diff --git "a/sct2_TextDefinition_Full-en_US1000124_20220901.txt.crdownload" "b/sct2_TextDefinition_Full-en_US1000124_20220901.txt.crdownload" new file mode 100644--- /dev/null +++ "b/sct2_TextDefinition_Full-en_US1000124_20220901.txt.crdownload" @@ -0,0 +1,6473 @@ +id effectiveTime active moduleId conceptId languageCode typeId term caseSignificanceId +2884452019 20040731 1 900000000000207008 410016009 en 900000000000550004 A decrease in lower leg circumference due to recurrent ulceration and fat necrosis causing loss of subcutaneous tissue in a patient with venous stasis disease 900000000000017005 +2884452019 20190731 0 900000000000207008 410016009 en 900000000000550004 A decrease in lower leg circumference due to recurrent ulceration and fat necrosis causing loss of subcutaneous tissue in a patient with venous stasis disease 900000000000017005 +2884453012 20050731 1 900000000000207008 416118004 en 900000000000550004 Introduction of a substance to the body 900000000000017005 +2884454018 20030731 1 900000000000207008 125097000 en 900000000000550004 Domestic goat 900000000000017005 +2884455017 20030731 1 900000000000207008 125099002 en 900000000000550004 Domestic sheep species 900000000000017005 +2884455017 20110131 0 900000000000207008 125099002 en 900000000000550004 Domestic sheep species 900000000000017005 +2884456016 20030731 1 900000000000207008 122868007 en 900000000000550004 An implantation of a staple 900000000000017005 +2884457013 20030731 1 900000000000207008 125085001 en 900000000000550004 Equus subspecies 900000000000017005 +2884457013 20100731 0 900000000000207008 125085001 en 900000000000550004 Equus subspecies 900000000000017005 +2884458015 20030731 1 900000000000207008 125671007 en 900000000000550004 Disruption of continuity of tissue, not necessarily due to external forces; may be due to weakness in the tissue or excessive internal pressures 900000000000017005 +2884459011 20030731 1 900000000000207008 127062003 en 900000000000550004 Peripheral blood red cell count above the normal range 900000000000017005 +2884460018 20030731 1 900000000000207008 2504000 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus and accompanies the pancreatic arteries 900000000000017005 +2884460018 20200131 0 900000000000207008 2504000 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus and accompanies the pancreatic arteries 900000000000017005 +2884461019 20030731 1 900000000000207008 1431002 en 900000000000550004 The act or operation of holding, suturing, or fastening in a fixed position 900000000000017005 +2884461019 20200131 0 900000000000207008 1431002 en 900000000000550004 The act or operation of holding, suturing, or fastening in a fixed position 900000000000017005 +2884462014 20030731 1 900000000000207008 14509009 en 900000000000550004 Radical excision of tissues and organs of a body cavity 900000000000017005 +2884463016 20030731 1 900000000000207008 128207002 en 900000000000550004 An autosomal recessive condition characterized by progressive degeneration of the central and peripheral nervous system with enlargement of axons 900000000000017005 +2884463016 20200131 0 900000000000207008 128207002 en 900000000000550004 An autosomal recessive condition characterized by progressive degeneration of the central and peripheral nervous system with enlargement of axons 900000000000017005 +2884464010 20030731 1 900000000000207008 24184005 en 900000000000550004 A finding of increased blood pressure; not necessarily hypertensive disorder 900000000000017005 +2884465011 20090131 1 900000000000207008 129152004 en 900000000000550004 Procedure on back including back of neck. 900000000000017005 +2884466012 20030731 1 900000000000207008 24736005 en 900000000000550004 Soft tissues enclosed within orbital region 900000000000017005 +2884467015 20030731 1 900000000000207008 12894003 en 900000000000550004 An evaluation of the performance of an organ, organ system, or body part 900000000000017005 +2884468013 20030731 1 900000000000207008 26386000 en 900000000000550004 The eye cavity that contains the vitreous 900000000000017005 +2884469017 20030731 1 900000000000207008 12763006 en 900000000000550004 A finding of decreased blood pressure; not necessarily hypotensive disorder 900000000000017005 +2884470016 20030731 1 900000000000207008 128065004 en 900000000000550004 Congenital portal-systemic shunt in which at least some portal blood perfuses the liver 900000000000017005 +2884470016 20210131 0 900000000000207008 128065004 en 900000000000550004 Congenital portal-systemic shunt in which at least some portal blood perfuses the liver 900000000000017005 +2884471017 20030731 1 900000000000207008 128489003 en 900000000000550004 Fine granular particles of rock or similar material 900000000000017005 +2884472012 20030731 1 900000000000207008 26701009 en 900000000000550004 Sympathetic and parasympathetic ganglia within pelvic plexi 900000000000017005 +2884472012 20180731 0 900000000000207008 26701009 en 900000000000550004 Sympathetic and parasympathetic ganglia within pelvic plexi 900000000000017005 +2884473019 20030731 1 900000000000207008 2677003 en 900000000000550004 A removal done by peeling, often using a stripper 900000000000017005 +2884474013 20030731 1 900000000000207008 127326005 en 900000000000550004 Disorders which occur in animals but not in man 900000000000017005 +2884474013 20140131 0 900000000000207008 127326005 en 900000000000550004 Disorders which occur in animals but not in man 900000000000017005 +2884475014 20030731 1 900000000000207008 127559009 en 900000000000550004 The structure representing the everted margin of a part 900000000000017005 +2884476010 20030731 1 900000000000207008 22649008 en 900000000000550004 Dermatitis caused by exposure to sunlight 900000000000017005 +2884476010 20140131 0 900000000000207008 22649008 en 900000000000550004 Dermatitis caused by exposure to sunlight 900000000000017005 +2884477018 20030731 1 900000000000207008 128533009 en 900000000000550004 Congenital small optic disc with normal visual function 900000000000017005 +2884478011 20030731 1 900000000000207008 24981001 en 900000000000550004 An autonomic plexus that branches from the inferior mesenteric plexus; accompanies superior rectal artery to rectum 900000000000017005 +2884478011 20120731 0 900000000000207008 24981001 en 900000000000550004 An autonomic plexus that branches from the inferior mesenteric plexus; accompanies superior rectal artery to rectum 900000000000017005 +2884479015 20030731 1 900000000000207008 13559005 en 900000000000550004 A continuation of the aortic plexus that leads to the right and left hypogastric nerves 900000000000017005 +2884480017 20030731 1 900000000000207008 128115005 en 900000000000550004 Any inherited disorder mimicking von Willebrand disease but lacking mutation at the VWF locus 900000000000017005 +2884481018 20030731 1 900000000000207008 14766002 en 900000000000550004 Extraction using negative pressure 900000000000017005 +2884482013 20030731 1 900000000000207008 128261004 en 900000000000550004 Includes pulmonary trunk and left and right main pulmonary arteries 900000000000017005 +2884483015 20030731 1 900000000000207008 128419007 en 900000000000550004 Deposition of mineral in normally non mineralized tissue 900000000000017005 +2884484014 20030731 1 900000000000207008 16076005 en 900000000000550004 A legal order to dispense and possibly prepare a substance or physical object 900000000000017005 +2884485010 20100131 1 900000000000207008 13810000 en 900000000000550004 Dislocation present at birth 900000000000017005 +2884486011 20030731 1 900000000000207008 15440009 en 900000000000550004 Amputation through a joint without cutting of bone 900000000000017005 +2884487019 20030731 1 900000000000207008 128045006 en 900000000000550004 Inflammation that may involve the skin and or subcutaneous tissues, and or muscle 900000000000017005 +2884487019 20140131 0 900000000000207008 128045006 en 900000000000550004 Inflammation that may involve the skin and or subcutaneous tissues, and or muscle 900000000000017005 +2884488012 20030731 1 900000000000207008 128553008 en 900000000000550004 A vein located in the antecubital fossa 900000000000017005 +2884489016 20030731 1 900000000000207008 14734007 en 900000000000550004 Procedure related to the administrative aspects of health care, including admission, discharge, transfer, disposition, referral, business, legal, financial, quality review, peer review, data reporting, notification, and so forth 900000000000017005 +2884490013 20030731 1 900000000000207008 15807005 en 900000000000550004 A financial procedure that assesses a financial situation 900000000000017005 +2884491012 20030731 1 900000000000207008 128176002 en 900000000000550004 Skin lesion, greater than 2 cm, flat, colored; differs from a macule only in size 900000000000017005 +2884492017 20030731 1 900000000000207008 128177006 en 900000000000550004 Skin lesion, greater than 2 cm, flat, colored; differs from a macule only in size 900000000000017005 +2884492017 20200131 0 900000000000207008 128177006 en 900000000000550004 Skin lesion, greater than 2 cm, flat, colored; differs from a macule only in size 900000000000017005 +2884493010 20030731 1 900000000000207008 15398002 en 900000000000550004 An autonomic plexus that is a subdivision of the aortic plexus, or derived from it, that accompanies the ovarian artery 900000000000017005 +2884494016 20030731 1 900000000000207008 1366004 en 900000000000550004 An administration into the respiratory tract by inspiration 900000000000017005 +2884495015 20030731 1 900000000000207008 14792009 en 900000000000550004 An injection of indelible pigments 900000000000017005 +2884496019 20030731 1 900000000000207008 128105004 en 900000000000550004 Includes true von Willebrand disease with mutation at the VWF locus, as well as mimicking disorders with other mutations (pseudo VWD) and acquired von Willebrand syndrome 900000000000017005 +2884497011 20030731 1 900000000000207008 128180007 en 900000000000550004 Appendix which is oriented posteriorly and inferiorly in the pelvic cavity 900000000000017005 +2884498018 20030731 1 900000000000207008 161006 en 900000000000550004 Injury due to increased heat 900000000000017005 +2884499014 20030731 1 900000000000207008 15420002 en 900000000000550004 Refitting a denture by replacing the denture base while keeping the occlusal relationship of the teeth the same 900000000000017005 +2884500017 20090731 1 900000000000207008 13930000 en 900000000000550004 Detection of protein in a location it should not normally be present 900000000000017005 +2884500017 20200131 0 900000000000207008 13930000 en 900000000000550004 Detection of protein in a location it should not normally be present 900000000000017005 +2884501018 20030731 1 900000000000207008 19359003 en 900000000000550004 A canal that runs from optic disc to lens that contains the hyaloid artery in the fetus 900000000000017005 +2884502013 20030731 1 900000000000207008 34896006 en 900000000000550004 Making a cut in something 900000000000017005 +2884503015 20030731 1 900000000000207008 21684005 en 900000000000550004 An autonomic plexus that is derived from the celiac plexus, more specifically renal and hypogastric plexi, that accompanies the ureteric artery to the ureter 900000000000017005 +2884503015 20200131 0 900000000000207008 21684005 en 900000000000550004 An autonomic plexus that is derived from the celiac plexus, more specifically renal and hypogastric plexi, that accompanies the ureteric artery to the ureter 900000000000017005 +2884504014 20030731 1 900000000000207008 19207007 en 900000000000550004 Skilled dextrous action of the hands directly applied to a body part 900000000000017005 +2884504014 20180131 0 900000000000207008 19207007 en 900000000000550004 Skilled dextrous action of the hands directly applied to a body part 900000000000017005 +2884505010 20030731 1 900000000000207008 20418004 en 900000000000550004 Excision of a wedge-shaped piece of tissue (often but not necessarily for diagnostic examination) 900000000000017005 +2884506011 20030731 1 900000000000207008 34109009 en 900000000000550004 An autonomic plexus accompanying the femoral artery and derived from the iliac plexus 900000000000017005 +2884507019 20030731 1 900000000000207008 32750006 en 900000000000550004 An exploration using the sense of sight, done with the eyes 900000000000017005 +2884508012 20030731 1 900000000000207008 19384000 en 900000000000550004 High-pitched diastolic murmur heard best at left sternal border, associated with pulmonary valve insufficiency 900000000000017005 +2884509016 20030731 1 900000000000207008 19168005 en 900000000000550004 Infection associated with hospitalization, not present or incubating prior to admission, but generally occurring more than 72 hours after admission 900000000000017005 +2884510014 20030731 1 900000000000207008 2044003 en 900000000000550004 Nerves running from uterovaginal plexus to vagina that are both sympathetic and parasympathetic 900000000000017005 +2884511013 20030731 1 900000000000207008 17630002 en 900000000000550004 A subdivision of inferior hypogastric plexus, maybe derived from it, that supplies nerves to the rectum 900000000000017005 +2884512018 20030731 1 900000000000207008 18115005 en 900000000000550004 Deposition of calcium in normally non calcified tissue 900000000000017005 +2884513011 20030731 1 900000000000207008 20364005 en 900000000000550004 Altered sense of hearing, other than simple decreased hearing or deafness 900000000000017005 +2884514017 20030731 1 900000000000207008 31808004 en 900000000000550004 Lymph node within the lung 900000000000017005 +2884515016 20070131 1 900000000000207008 17784009 en 900000000000550004 Hydrocarbon solvents with flash points above 38 degrees C 900000000000017005 +2884516015 20030731 1 900000000000207008 23680005 en 900000000000550004 Disorder occurring at the site of insertion of tendons or ligaments into bones or joint capsules 900000000000017005 +2884517012 20090131 1 900000000000207008 26029002 en 900000000000550004 Mild disease manifests factor VIII activity of greater than 5% of normal 900000000000017005 +2884518019 20030731 1 900000000000207008 19130008 en 900000000000550004 A structure damaged by an external force 900000000000017005 +2884519010 20030731 1 900000000000207008 19484001 en 900000000000550004 An incision that relieves abnormal pressure on a structure 900000000000017005 +2884520016 20030731 1 900000000000207008 21143006 en 900000000000550004 Traumatic hemorrhage into heel that persists as black dots 900000000000017005 +2884520016 20200131 0 900000000000207008 21143006 en 900000000000550004 Traumatic hemorrhage into heel that persists as black dots 900000000000017005 +2884521017 20030731 1 900000000000207008 27925004 en 900000000000550004 A 1 to 5 cm firm lesion raised above the surface of the surrounding skin; differs from a papule only in size 900000000000017005 +2884521017 20180731 0 900000000000207008 27925004 en 900000000000550004 A 1 to 5 cm firm lesion raised above the surface of the surrounding skin; differs from a papule only in size 900000000000017005 +2884522012 20030731 1 900000000000207008 28644007 en 900000000000550004 Excision of an enterocele, a posterior vaginal hernia 900000000000017005 +2884523019 20030731 1 900000000000207008 25694009 en 900000000000550004 A small, solid lesion, less than 1 cm in diameter, raised above the surface of the surrounding skin and hence palpable 900000000000017005 +2884524013 20030731 1 900000000000207008 367522007 en 900000000000550004 Inflammation of skin adjacent to an infectious site by autoinnoculation; appears as eczematous plaque with or without vesicles 900000000000017005 +2884524013 20150131 0 900000000000207008 367522007 en 900000000000550004 Inflammation of skin adjacent to an infectious site by autoinnoculation; appears as eczematous plaque with or without vesicles 900000000000017005 +2884525014 20090731 1 900000000000207008 2704003 en 900000000000550004 Any disease of sudden onset AND/OR short duration 900000000000017005 +2884526010 20030731 1 900000000000207008 2802005 en 900000000000550004 A dilation and stretching done by manipulation 900000000000017005 +2884527018 20030731 1 900000000000207008 3100007 en 900000000000550004 Portion of tooth exposed above gums, the part above the clinical root 900000000000017005 +2884528011 20030731 1 900000000000207008 27782009 en 900000000000550004 A transplantation where the donor and recipient spots are part of genetically identical organisms 900000000000017005 +2884529015 20030731 1 900000000000207008 27411008 en 900000000000550004 A destruction of tissue by burning or searing with a thermal instrument, an electric current, or a caustic substance 900000000000017005 +2884530013 20030731 1 900000000000207008 27941003 en 900000000000550004 Orbital structure; a fibrous ring that is the origin of the rectus muscles 900000000000017005 +2884531012 20030731 1 900000000000207008 30623001 en 900000000000550004 A sudden pain, usually sharp, occurring during movement, or exacerbated by movement, and prompting cessation of movement 900000000000017005 +2884532017 20030731 1 900000000000207008 29064005 en 900000000000550004 A chart-related administrative procedure that involves opening the chart 900000000000017005 +2884533010 20030731 1 900000000000207008 27706005 en 900000000000550004 One of the great vessels draining venous blood from the left lung 900000000000017005 +2884534016 20030731 1 900000000000207008 34810001 en 900000000000550004 The part of the oral cavity external to gums and teeth and internal to cheeks and lips 900000000000017005 +2884535015 20030731 1 900000000000207008 35328001 en 900000000000550004 An unpaired autonomic plexus that is part of the celiac plexus that lies on the hepatic artery and its branches in the liver 900000000000017005 +2884535015 20200131 0 900000000000207008 35328001 en 900000000000550004 An unpaired autonomic plexus that is part of the celiac plexus that lies on the hepatic artery and its branches in the liver 900000000000017005 +2884536019 20030731 1 900000000000207008 32615007 en 900000000000550004 A mid-to-late diastolic murmur heard best at the cardiac apex, heard in cases of aortic insufficiency 900000000000017005 +2884537011 20090131 1 900000000000207008 33344008 en 900000000000550004 Moderate disease manifests factor VIII activity of 2% to 5% of normal 900000000000017005 +2884538018 20030731 1 900000000000207008 33622007 en 900000000000550004 A spontaneous cardiomyopathy of unknown etiology that affects healthy poultry 900000000000017005 +2884538018 20140131 0 900000000000207008 33622007 en 900000000000550004 A spontaneous cardiomyopathy of unknown etiology that affects healthy poultry 900000000000017005 +2884539014 20030731 1 900000000000207008 32350008 en 900000000000550004 Delayed transfer flap-a flap graft that is partially raised from the donor bed to permit collateral circulation of the pedicle 900000000000017005 +2884539014 20220228 0 900000000000207008 32350008 en 900000000000550004 Delayed transfer flap-a flap graft that is partially raised from the donor bed to permit collateral circulation of the pedicle 900000000000017005 +2884540011 20030731 1 900000000000207008 33415007 en 900000000000550004 Shell-shaped structure of lateral nasal cavity above the superior nasal turbinate, including bone and covering mucous membrane 900000000000017005 +2884541010 20030731 1 900000000000207008 30021000 en 900000000000550004 Lower extremity from knee to ankle 900000000000017005 +2884541010 20200131 0 900000000000207008 30021000 en 900000000000550004 Lower extremity from knee to ankle 900000000000017005 +2884542015 20030731 1 900000000000207008 31201001 en 900000000000550004 Infection of perianal region of skin following abrasion, which is named for the occurrence in horsemen 900000000000017005 +2884543013 20030731 1 900000000000207008 29923002 en 900000000000550004 A scraping away of thin sections 900000000000017005 +2884544019 20030731 1 900000000000207008 339008 en 900000000000550004 A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter 900000000000017005 +2884545018 20030731 1 900000000000207008 3324009 en 900000000000550004 A photocoagulation using a laser beam 900000000000017005 +2884546017 20030731 1 900000000000207008 29836001 en 900000000000550004 The body part defined by the hip joint and surrounding structures, including the region from the iliac crest to the thigh 900000000000017005 +2884547014 20030731 1 900000000000207008 32166003 en 900000000000550004 A history taken by a self-administered questionnaire 900000000000017005 +2884548016 20030731 1 900000000000207008 31716004 en 900000000000550004 Category of human frozen plasma products, regardless of time from donation to freezing 900000000000017005 +2884549012 20030731 1 900000000000207008 3137001 en 900000000000550004 Implantation that is being revised 900000000000017005 +2884549012 20210731 0 900000000000207008 3137001 en 900000000000550004 Implantation that is being revised 900000000000017005 +2884550012 20030731 1 900000000000207008 32998005 en 900000000000550004 Repair of vesicovaginal fistula 900000000000017005 +2884551011 20090131 1 900000000000207008 33308003 en 900000000000550004 Disorder of back including back of neck. 900000000000017005 +2884552016 20030731 1 900000000000207008 30110007 en 900000000000550004 A depression of the anterior surface of the vitreous body where the lens fits 900000000000017005 +2884553014 20030731 1 900000000000207008 32485007 en 900000000000550004 Performance of the steps necessary to admit a patient to a hospital 900000000000017005 +2884554015 20030731 1 900000000000207008 33553000 en 900000000000550004 An unmarried person whose spouse has died 900000000000017005 +2884555019 20030731 1 900000000000207008 3377004 en 900000000000550004 Ridge on the lateral internal nasal wall due to the ethmoidal crest of the maxilla 900000000000017005 +2884556018 20030731 1 900000000000207008 40983000 en 900000000000550004 Upper extremity between shoulder and elbow 900000000000017005 +2884556018 20200131 0 900000000000207008 40983000 en 900000000000550004 Upper extremity between shoulder and elbow 900000000000017005 +2884557010 20090731 1 900000000000207008 3720003 en 900000000000550004 Detection of hemoglobin in a location it should not normally be present 900000000000017005 +2884557010 20200131 0 900000000000207008 3720003 en 900000000000550004 Detection of hemoglobin in a location it should not normally be present 900000000000017005 +2884558017 20040131 1 900000000000207008 53889007 en 900000000000550004 A cataract involving the nucleus of the lens 900000000000017005 +2884559013 20030731 1 900000000000207008 53892006 en 900000000000550004 Nerves in the pelvis that connect the superior hypogastric plexus to the inferior hypogastric plexus 900000000000017005 +2884560015 20030731 1 900000000000207008 40587007 en 900000000000550004 Pereyra procedure: Needle suspension and suture of bladder neck for stress incontinence 900000000000017005 +2884561016 20030731 1 900000000000207008 40617009 en 900000000000550004 An assistance of respiration 900000000000017005 +2884562011 20030731 1 900000000000207008 3789000 en 900000000000550004 Endocrine cell of the gut 900000000000017005 +2884563018 20030731 1 900000000000207008 3700004 en 900000000000550004 Intracapsular extraction of cataract using an erysiphake—an instrument used to aspirate a cataract 900000000000017005 +2884563018 20200131 0 900000000000207008 3700004 en 900000000000550004 Intracapsular extraction of cataract using an erysiphake—an instrument used to aspirate a cataract 900000000000017005 +2884564012 20030731 1 900000000000207008 51289009 en 900000000000550004 Entire digestive tract including mouth, esophagus, stomach, and intestines 900000000000017005 +2884564012 20200131 0 900000000000207008 51289009 en 900000000000550004 Entire digestive tract including mouth, esophagus, stomach, and intestines 900000000000017005 +2884565013 20030731 1 900000000000207008 37931006 en 900000000000550004 A listening to spontaneously generated body sounds 900000000000017005 +2884566014 20030731 1 900000000000207008 3791008 en 900000000000550004 Right shift of the hemoglobin oxygen dissociation curve due to lower pH with increased carbon dioxide 900000000000017005 +2884566014 20200131 0 900000000000207008 3791008 en 900000000000550004 Right shift of the hemoglobin oxygen dissociation curve due to lower pH with increased carbon dioxide 900000000000017005 +2884567017 20030731 1 900000000000207008 35764002 en 900000000000550004 The four ventricles of the brain, including the two lateral ventricles, the third ventricle, and the fourth ventricle 900000000000017005 +2884568010 20030731 1 900000000000207008 39250009 en 900000000000550004 A removal of an anatomic or pathologic structure in entirety without breakage 900000000000017005 +2884569019 20030731 1 900000000000207008 36576007 en 900000000000550004 An injection that is continuous 900000000000017005 +2884569019 20210731 0 900000000000207008 36576007 en 900000000000550004 An injection that is continuous 900000000000017005 +2884570018 20030731 1 900000000000207008 38954004 en 900000000000550004 Tooth adapted to shear flesh 900000000000017005 +2884570018 20140131 0 900000000000207008 38954004 en 900000000000550004 Tooth adapted to shear flesh 900000000000017005 +2884571019 20030731 1 900000000000207008 38809004 en 900000000000550004 Vein located within the thorax 900000000000017005 +2884572014 20030731 1 900000000000207008 43671000 en 900000000000550004 Nerves that supply sympathetic and parasympathetic innervation to erectile tissue of clitoris; derived from uterovaginal plexus 900000000000017005 +2884573016 20030731 1 900000000000207008 43802008 en 900000000000550004 A cauterization done with thermal energy 900000000000017005 +2884573016 20200131 0 900000000000207008 43802008 en 900000000000550004 A cauterization done with thermal energy 900000000000017005 +2884574010 20030731 1 900000000000207008 44764005 en 900000000000550004 Crowning—preparation and covering of the natural crown of a tooth with a veneer consisting of a metal, plastic resin, or porcelain or combinations 900000000000017005 +2884574010 20200131 0 900000000000207008 44764005 en 900000000000550004 Crowning—preparation and covering of the natural crown of a tooth with a veneer consisting of a metal, plastic resin, or porcelain or combinations 900000000000017005 +2884575011 20040731 1 900000000000207008 44808001 en 900000000000550004 Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities 900000000000017005 +2884575011 20140131 0 900000000000207008 44808001 en 900000000000550004 Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities 900000000000017005 +2884576012 20030731 1 900000000000207008 42965003 en 900000000000550004 A chart related administrative procedure done by the medical records department 900000000000017005 +2884577015 20090131 1 900000000000207008 42786005 en 900000000000550004 Localized swelling of the flexor pollicis longus muscle tendon that limits excursion within the tendon sheath and causes the tendon to be caught under the flexor tendon sheath, which typically causes a snap, pop or click when it releases with pressure. 900000000000017005 +2884578013 20030731 1 900000000000207008 4150005 en 900000000000550004 An autonomic plexus that is a superior subdivision of the aortic plexus that runs anterior to the aorta at the level of the celiac trunk T12; contains celiac ganglia and most visceral afferents pass though it 900000000000017005 +2884578013 20200131 0 900000000000207008 4150005 en 900000000000550004 An autonomic plexus that is a superior subdivision of the aortic plexus that runs anterior to the aorta at the level of the celiac trunk T12; contains celiac ganglia and most visceral afferents pass though it 900000000000017005 +2884579017 20030731 1 900000000000207008 42842009 en 900000000000550004 Cardiac murmur with no significant crescendo or decrescendo 900000000000017005 +2884580019 20030731 1 900000000000207008 44667005 en 900000000000550004 Skin region including some skin of finger AND some additional non finger skin 900000000000017005 +2884581015 20030731 1 900000000000207008 36777000 en 900000000000550004 Removal of devitalized tissue 900000000000017005 +2884581015 20211130 0 900000000000207008 36777000 en 900000000000550004 Removal of devitalized tissue 900000000000017005 +2884582010 20030731 1 900000000000207008 36364006 en 900000000000550004 Two nerves that supply sympathetic and parasympathetic innervation to vascular structures of corpus cavernosum, stimulating erection; derived from prostatic plexus 900000000000017005 +2884582010 20180731 0 900000000000207008 36364006 en 900000000000550004 Two nerves that supply sympathetic and parasympathetic innervation to vascular structures of corpus cavernosum, stimulating erection; derived from prostatic plexus 900000000000017005 +2884583017 20030731 1 900000000000207008 4365001 en 900000000000550004 Restoring, to the extent possible, the natural anatomical structure 900000000000017005 +2884583017 20220228 0 900000000000207008 4365001 en 900000000000550004 Restoring, to the extent possible, the natural anatomical structure 900000000000017005 +2884584011 20030731 1 900000000000207008 40015002 en 900000000000550004 Passage of gas by anus 900000000000017005 +2884584011 20200131 0 900000000000207008 40015002 en 900000000000550004 Passage of gas by anus 900000000000017005 +2884585012 20030731 1 900000000000207008 4116001 en 900000000000550004 A construction of openings or fenestrae 900000000000017005 +2884586013 20030731 1 900000000000207008 4592006 en 900000000000550004 A ‘galloping’ sound on cardiac auscultation because of an abnormally audible fourth heart sound 900000000000017005 +2884586013 20150131 0 900000000000207008 4592006 en 900000000000550004 A ‘galloping’ sound on cardiac auscultation because of an abnormally audible fourth heart sound 900000000000017005 +2884587016 20030731 1 900000000000207008 47290002 en 900000000000550004 Junglefowl 900000000000017005 +2884587016 20150131 0 900000000000207008 47290002 en 900000000000550004 Junglefowl 900000000000017005 +2884588014 20030731 1 900000000000207008 4905007 en 900000000000550004 Autonomic plexus with ganglia derived from inferior hypogastric plexus, that supplies uterus, vagina, ovary, erectile tissue of vestibule, and urethra 900000000000017005 +2884589018 20030731 1 900000000000207008 46809006 en 900000000000550004 Excision of the fibrous, cartilaginous, or bony fusion of two or more of the tarsal bones 900000000000017005 +2884590010 20030731 1 900000000000207008 47881004 en 900000000000550004 An autonomic plexus formed by the junction of the hypogastric nerve and the splanchnic nerve on each side; supplies pelvic viscera 900000000000017005 +2884591014 20030731 1 900000000000207008 44248001 en 900000000000550004 Abducent nerve paralysis with contralateral hemiparesis 900000000000017005 +2884592019 20030731 1 900000000000207008 4764004 en 900000000000550004 Jet ventilation phasically directs a high-velocity jet of humidified gas into the endotracheal tube at rapid frequencies, entraining additional fresh gas during insufflation 900000000000017005 +2884593012 20030731 1 900000000000207008 49412003 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus that accompanies the adrenal artery 900000000000017005 +2884593012 20200131 0 900000000000207008 49412003 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus that accompanies the adrenal artery 900000000000017005 +2884594018 20030731 1 900000000000207008 46947000 en 900000000000550004 A manipulation done by a chiropractor 900000000000017005 +2884595017 20080731 1 900000000000207008 47975008 en 900000000000550004 The root of the tongue is the posterior third, the dorsal surface of which forms the anterior wall of the oropharynx; it rests on the floor of the mouth, and the nerves and vessels that supply the intrinsic muscles of the tongue traverse it. 900000000000017005 +2884596016 20030731 1 900000000000207008 48333001 en 900000000000550004 Generic burn injury, including that due to excessive heat, as well as cauterization, friction, electricity, radiation, sunlight, and other causes 900000000000017005 +2884596016 20200131 0 900000000000207008 48333001 en 900000000000550004 Generic burn injury, including that due to excessive heat, as well as cauterization, friction, electricity, radiation, sunlight, and other causes 900000000000017005 +2884597013 20030731 1 900000000000207008 49549006 en 900000000000550004 The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways 900000000000017005 +2884598015 20030731 1 900000000000207008 48563009 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus that accompanies the renal artery 900000000000017005 +2884598015 20200131 0 900000000000207008 48563009 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus that accompanies the renal artery 900000000000017005 +2884599011 20030731 1 900000000000207008 47002008 en 900000000000550004 A vesicle filled with leukocytes 900000000000017005 +2884600014 20030731 1 900000000000207008 48537004 en 900000000000550004 A construction of a shunt using either biologic or synthetic material 900000000000017005 +2884601013 20090131 1 900000000000207008 102482005 en 900000000000550004 Episodic childhood musculoskeletal pain, usually brief (a few minutes), intense, nocturnal, involving both legs, with no identifiable cause or sequelae. 900000000000017005 +2884602018 20030731 1 900000000000207008 102704008 en 900000000000550004 Fatty acid with fewer than 10 carbon atoms 900000000000017005 +2884603011 20030731 1 900000000000207008 102705009 en 900000000000550004 Fatty acid with 10 to 14 carbon atoms 900000000000017005 +2884604017 20030731 1 900000000000207008 102706005 en 900000000000550004 Fatty acid with 10 or more carbon atoms 900000000000017005 +2884605016 20030731 1 900000000000207008 169283005 en 900000000000550004 An observation that generates a recording made from energy of the light spectrum 900000000000017005 +2884606015 20030731 1 900000000000207008 103741002 en 900000000000550004 An inspection by the passage of light through tissues or a body cavity 900000000000017005 +2884607012 20030731 1 900000000000207008 107724000 en 900000000000550004 Performance of the steps necessary to transfer a patient between locations of care delivery 900000000000017005 +2884608019 20030731 1 900000000000207008 184034005 en 900000000000550004 Range of sound intensity between the minimum audible intensity and the auditory pain threshold 900000000000017005 +2884609010 20030731 1 900000000000207008 107733003 en 900000000000550004 Introduction of object AND/OR substance into or onto body, including injection, implantation, infusion, perfusion, transfusion, irrigation, instillation, insertion, placement, replacement, packing, intubation, catheterization, cannulation 900000000000017005 +2884609010 20120731 0 900000000000207008 107733003 en 900000000000550004 Introduction of object AND/OR substance into or onto body, including injection, implantation, infusion, perfusion, transfusion, irrigation, instillation, insertion, placement, replacement, packing, intubation, catheterization, cannulation 900000000000017005 +2884610017 20030731 1 900000000000207008 106190000 en 900000000000550004 Known to have allergic reactions to particular substance(s) 900000000000017005 +2884611018 20030731 1 900000000000207008 105594005 en 900000000000550004 Burn injury due to excessive heat 900000000000017005 +2884612013 20030731 1 900000000000207008 189411005 en 900000000000550004 Antemortem blood clot in the cardiovascular system 900000000000017005 +2884613015 20030731 1 900000000000207008 107727007 en 900000000000550004 An administrative procedure that involves a medical record chart 900000000000017005 +2884614014 20030731 1 900000000000207008 107728002 en 900000000000550004 An evaluation of a medical chart by a health care professional 900000000000017005 +2884615010 20030731 1 900000000000207008 197157006 en 900000000000550004 An observation that generates a recording made from energy of the light spectrum 900000000000017005 +2884615010 20150731 0 900000000000207008 197157006 en 900000000000550004 An observation that generates a recording made from energy of the light spectrum 900000000000017005 +2884616011 20030731 1 900000000000207008 108372004 en 900000000000550004 Any bone that is part of the tarsus 900000000000017005 +2884617019 20030731 1 900000000000207008 109478007 en 900000000000550004 Ameliogenesis imperfecta, mental retardation, and epileptic seizures 900000000000017005 +2884617019 20150131 0 900000000000207008 109478007 en 900000000000550004 Ameliogenesis imperfecta, mental retardation, and epileptic seizures 900000000000017005 +2884618012 20090131 1 900000000000207008 228244001 en 900000000000550004 Any element of clothing that is worn on one's head 900000000000017005 +2884619016 20080731 1 900000000000207008 109750005 en 900000000000550004 Noncarious lesion, where tooth is fatigued, flexed, and deformed by biomechanical loading of tooth, primarily at the cervical region. Usually wedge-shaped lesions with sharp-line angles, but sometimes circular invaginations on occlusal surfaces. 900000000000017005 +2884620010 20030731 1 900000000000207008 111030006 en 900000000000550004 A form of diffuse palmoplantar keratoderma that occurs between the ages of 5 and 15 and may be associated with the subsequent development of esophageal cancer 900000000000017005 +2884620010 20200131 0 900000000000207008 111030006 en 900000000000550004 A form of diffuse palmoplantar keratoderma that occurs between the ages of 5 and 15 and may be associated with the subsequent development of esophageal cancer 900000000000017005 +2884621014 20030731 1 900000000000207008 110986000 en 900000000000550004 A keratotic cutaneous polyp containing abundant connective tissue 900000000000017005 +2884621014 20190731 0 900000000000207008 110986000 en 900000000000550004 A keratotic cutaneous polyp containing abundant connective tissue 900000000000017005 +2884622019 20030731 1 900000000000207008 239332003 en 900000000000550004 An immune system procedure that observes for evidence of hypersensitivity 900000000000017005 +2884622019 20150731 0 900000000000207008 239332003 en 900000000000550004 An immune system procedure that observes for evidence of hypersensitivity 900000000000017005 +2884623012 20030731 1 900000000000207008 11140008 en 900000000000550004 An artificial respiration done manually 900000000000017005 +2884624018 20030731 1 900000000000207008 111029001 en 900000000000550004 A developmental disorder characterized by keratotic papules of skin of hands and soles with disorganization of dermal elastic fibers that does not appear to be due to trauma or sunlight 900000000000017005 +2884624018 20200131 0 900000000000207008 111029001 en 900000000000550004 A developmental disorder characterized by keratotic papules of skin of hands and soles with disorganization of dermal elastic fibers that does not appear to be due to trauma or sunlight 900000000000017005 +2884625017 20030731 1 900000000000207008 109778006 en 900000000000550004 Symmetric excoriation of the hard palate often due to sucking in infants 900000000000017005 +2884626016 20030731 1 900000000000207008 109788007 en 900000000000550004 A fibroma of the gums with calcification and possibly ossification 900000000000017005 +2884627013 20030731 1 900000000000207008 109817001 en 900000000000550004 Hernia of part of the intestinal tract through the intersigmoid recess or fossa 900000000000017005 +2884628015 20030731 1 900000000000207008 109361004 en 900000000000550004 A cyst composed of maxillary sinus epithelium along a surgical line of entry 900000000000017005 +2884629011 20050131 1 900000000000207008 246464006 en 900000000000550004 Any function or property that is not mainly morphologic or structural, including both measurable and observable features and physiologic actions 900000000000017005 +2884630018 20030731 1 900000000000207008 112928008 en 900000000000550004 A method of external massage of the uterus to promote delivery of the placenta 900000000000017005 +2884630018 20190731 0 900000000000207008 112928008 en 900000000000550004 A method of external massage of the uterus to promote delivery of the placenta 900000000000017005 +2884631019 20030731 1 900000000000207008 112629002 en 900000000000550004 A flat lesion, less than 2 cm in diameter, not raised above the surface of the surrounding skin 900000000000017005 +2884632014 20030731 1 900000000000207008 112695004 en 900000000000550004 A repair that unites structures 900000000000017005 +2884633016 20100131 1 900000000000207008 238328000 en 900000000000550004 Thoracotomy with a smaller incision than a standard thoracotomy and with minimal or no rib spreading 900000000000017005 +2884634010 20030731 1 900000000000207008 112696003 en 900000000000550004 A repair done via manipulation 900000000000017005 +2884635011 20090131 1 900000000000207008 257383002 en 900000000000550004 A helmet that is worn as protection for the head in the event of a vehicular accident 900000000000017005 +2884636012 20030731 1 900000000000207008 264068005 en 900000000000550004 At location of left laterality and inferior 900000000000017005 +2884637015 20030731 1 900000000000207008 113343008 en 900000000000550004 An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary). 900000000000017005 +2884638013 20030731 1 900000000000207008 11421009 en 900000000000550004 Vibration felt on the chest wall, either by examiner or subjective 900000000000017005 +2884639017 20030731 1 900000000000207008 255482005 en 900000000000550004 At location of left laterality and superior 900000000000017005 +2884640015 20030731 1 900000000000207008 260674002 en 900000000000550004 The flow of an anatomic orifice. The orifice may be an opening such as a valve or stenosis. The direction may be valve retrograde flow (regurgitation) or antegrade flow. 900000000000017005 +2884640015 20110131 1 900000000000012004 260674002 en 900000000000550004 The flow of an anatomic orifice. The orifice may be an opening such as a valve or stenosis. The direction may be valve retrograde flow (regurgitation) or antegrade flow. 900000000000017005 +2884641016 20070731 1 900000000000207008 115537005 en 900000000000550004 An alcohol obtained from refinement of fusel oil; contains mainly isopentyl alcohol and 2-methyl-1-butanol 900000000000017005 +2884642011 20100731 1 900000000000207008 11530004 en 900000000000550004 Diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. 900000000000017005 +2884642011 20190731 0 900000000000207008 11530004 en 900000000000550004 Diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. 900000000000017005 +2884643018 20090731 1 900000000000207008 113076002 en 900000000000550004 Measurement of blood glucose in the fasting state and at specific intervals before and after oral or intravenous glucose load to determine the ability to maintain homeostasis of glucose. 900000000000017005 +2884644012 20030731 1 900000000000207008 252512005 en 900000000000550004 An immune system procedure that observes for evidence of hypersensitivity 900000000000017005 +2884645013 20030731 1 900000000000207008 113011001 en 900000000000550004 An exploration using the sense of touch 900000000000017005 +2884646014 20030731 1 900000000000207008 11326003 en 900000000000550004 Part of the pulp of tooth that is within the crown portion of the pulp cavity 900000000000017005 +2884647017 20030731 1 900000000000207008 255496004 en 900000000000550004 At location (or vessel branch as in pulmonary vein) of right laterality and inferior 900000000000017005 +2884648010 20030731 1 900000000000207008 255499006 en 900000000000550004 At location (or vessel branch as in pulmonary vein) of right laterality and superior 900000000000017005 +2884649019 20090131 1 900000000000207008 285695004 en 900000000000550004 Headwear designed to protect against injuries 900000000000017005 +2884650019 20100731 1 900000000000207008 290002008 en 900000000000550004 Type I diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. 900000000000017005 +2884650019 20130731 0 900000000000207008 290002008 en 900000000000550004 Type I diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. 900000000000017005 +2884651015 20030731 1 900000000000207008 118662001 en 900000000000550004 An administrative legal procedure 900000000000017005 +2884652010 20030731 1 900000000000207008 118630004 en 900000000000550004 An incision that separates something into two or more parts 900000000000017005 +2884653017 20030731 1 900000000000207008 118760003 en 900000000000550004 A large organ in the thorax, abdomen, or pelvis 900000000000017005 +2884654011 20030731 1 900000000000207008 118652008 en 900000000000550004 Denotes the pits or crypts, but not the glands that lie beneath them 900000000000017005 +2884655012 20030731 1 900000000000207008 118661008 en 900000000000550004 Service provided by physician 900000000000017005 +2884656013 20030731 1 900000000000207008 118659004 en 900000000000550004 Procedure to anchor a tendon to act as a suspensory ligament 900000000000017005 +2884657016 20030731 1 900000000000207008 118635009 en 900000000000550004 Repeating a prior procedure to correct or improve the results 900000000000017005 +2884657016 20180131 0 900000000000207008 118635009 en 900000000000550004 Repeating a prior procedure to correct or improve the results 900000000000017005 +2884658014 20030731 1 900000000000207008 118636005 en 900000000000550004 Evacuation using positive pressure 900000000000017005 +2884659018 20030731 1 900000000000207008 118626002 en 900000000000550004 An anastomosis that places a tubular structure between the cut ends of a previously contiguous tubular structure 900000000000017005 +2884660011 20030731 1 900000000000207008 118292001 en 900000000000550004 To take something off or out, to get rid of, to eliminate 900000000000017005 +2884661010 20030731 1 900000000000207008 118627006 en 900000000000550004 A construction of a pouch, achieved by resecting the anterior wall of a cyst or other enclosed cavity and suturing the cut edges of the remaining wall to adjacent edges of skin 900000000000017005 +2884661010 20200731 0 900000000000207008 118627006 en 900000000000550004 A construction of a pouch, achieved by resecting the anterior wall of a cyst or other enclosed cavity and suturing the cut edges of the remaining wall to adjacent edges of skin 900000000000017005 +2884662015 20030731 1 900000000000207008 118640001 en 900000000000550004 Radiation therapy using radiolabelled antibodies 900000000000017005 +2884662015 20200131 0 900000000000207008 118640001 en 900000000000550004 Radiation therapy using radiolabelled antibodies 900000000000017005 +2884663013 20030731 1 900000000000207008 11899006 en 900000000000550004 Lymph node along the esophagus, may be in either the mediastinum or the neck 900000000000017005 +2884663013 20200131 0 900000000000207008 11899006 en 900000000000550004 Lymph node along the esophagus, may be in either the mediastinum or the neck 900000000000017005 +2884664019 20060131 1 900000000000207008 118629009 en 900000000000550004 Procedure aimed at enhancing functioning, frequently includes repetition of actions to develop, re-create or maintain physiological/cognitive processes. 900000000000017005 +2884665018 20030731 1 900000000000207008 122546009 en 900000000000550004 Enlarging or distending a structure, increasing its internal wall stress 900000000000017005 +2884666017 20030731 1 900000000000207008 119249001 en 900000000000550004 Absence of the gamma fraction of serum globulin 900000000000017005 +2884666017 20210731 0 900000000000207008 119249001 en 900000000000550004 Absence of the gamma fraction of serum globulin 900000000000017005 +2884667014 20030731 1 900000000000207008 49928004 en 900000000000550004 Neck anterior to the vertebral column, including pharynx, larynx, and anterior surface 900000000000017005 +2884668016 20030731 1 900000000000207008 50015006 en 900000000000550004 A closure done by stapling 900000000000017005 +2884669012 20030731 1 900000000000207008 47538007 en 900000000000550004 Composite structure of hyaluronic acid gel within a stromal network of collagen fibrils 900000000000017005 +2884670013 20030731 1 900000000000207008 52250000 en 900000000000550004 Electromagnetic radiation of wavelength between approximately 001 nm and 10 nm 900000000000017005 +2884671012 20030731 1 900000000000207008 49864004 en 900000000000550004 A ‘galloping’ sound on cardiac auscultation because of an abnormally audible third heart sound 900000000000017005 +2884671012 20150131 0 900000000000207008 49864004 en 900000000000550004 A ‘galloping’ sound on cardiac auscultation because of an abnormally audible third heart sound 900000000000017005 +2884672017 20030731 1 900000000000207008 52765003 en 900000000000550004 An insertion of a tubular device into a canal, hollow organ, or cavity 900000000000017005 +2884672017 20210731 0 900000000000207008 52765003 en 900000000000550004 An insertion of a tubular device into a canal, hollow organ, or cavity 900000000000017005 +2884673010 20030731 1 900000000000207008 54134001 en 900000000000550004 The membranes which surround the embryo but are not involved in formation of the embryo itself 900000000000017005 +2884673010 20210731 0 900000000000207008 54134001 en 900000000000550004 The membranes which surround the embryo but are not involved in formation of the embryo itself 900000000000017005 +2884674016 20030731 1 900000000000207008 53120007 en 900000000000550004 Upper extremity, including shoulder, arm, forearm, wrist, and hand 900000000000017005 +2884675015 20030731 1 900000000000207008 5447007 en 900000000000550004 An infusion of blood or blood product 900000000000017005 +2884675015 20210731 0 900000000000207008 5447007 en 900000000000550004 An infusion of blood or blood product 900000000000017005 +2884676019 20030731 1 900000000000207008 50659003 en 900000000000550004 A quality of care determination performed retrospectively 900000000000017005 +2884677011 20030731 1 900000000000207008 53224005 en 900000000000550004 An autonomic plexus that branches from the aortic plexus, that sends nerves to intestines and with the vagus forms subserous, myenteric, and submucous plexus 900000000000017005 +2884678018 20030731 1 900000000000207008 53088000 en 900000000000550004 A transplantation where the donor and recipient spots are part of the same organism 900000000000017005 +2884679014 20030731 1 900000000000207008 54305003 en 900000000000550004 Obsolete procedure involving displacement of lens into vitreous for treatment of cataract 900000000000017005 +2884680012 20030731 1 900000000000207008 50223000 en 900000000000550004 A transplantation where the donor and recipient spots are from antigenically distinct individuals of the same species 900000000000017005 +2884681011 20030731 1 900000000000207008 59108006 en 900000000000550004 Administration using positive pressure and a needle or other equipment to drive a substance into the body 900000000000017005 +2884681011 20200131 0 900000000000207008 59108006 en 900000000000550004 Administration using positive pressure and a needle or other equipment to drive a substance into the body 900000000000017005 +2884682016 20030731 1 900000000000207008 57551006 en 900000000000550004 Stretching of the iris to increase the outflow of aqueous from the eye in glaucoma patients 900000000000017005 +2884683014 20030731 1 900000000000207008 55870005 en 900000000000550004 Administration of a liquid, drop by drop, into or onto the body 900000000000017005 +2884684015 20030731 1 900000000000207008 58759008 en 900000000000550004 Superficial dermatitis on opposed skin surfaces 900000000000017005 +2884684015 20200731 0 900000000000207008 58759008 en 900000000000550004 Superficial dermatitis on opposed skin surfaces 900000000000017005 +2884685019 20030731 1 900000000000207008 56275003 en 900000000000550004 A ligation where the surgical suture serves as a ligature 900000000000017005 +2884686018 20030731 1 900000000000207008 56242006 en 900000000000550004 Electromagnetic radiation in the visible range as well as parts of the ultraviolet and infrared ranges 900000000000017005 +2884687010 20030731 1 900000000000207008 5845006 en 900000000000550004 A destruction achieved by turning a solid into an emulsion 900000000000017005 +2884688017 20030731 1 900000000000207008 57554003 en 900000000000550004 Division of a fibrous capsule surrounding a prosthetic breast implant 900000000000017005 +2884689013 20030731 1 900000000000207008 56757003 en 900000000000550004 Removal from a surface by repeated strokes of an edged instrument 900000000000017005 +2884690016 20100131 1 900000000000207008 5880005 en 900000000000550004 An observation of the body or a body part using one of the five human senses (e.g. inspection, palpation, percussion, auscultation) 900000000000017005 +2884691017 20030731 1 900000000000207008 59719002 en 900000000000550004 To expose the inner surface of a structure to the external surface of the body 900000000000017005 +2884692012 20030731 1 900000000000207008 55080005 en 900000000000550004 Electromagnetic radiation from a RAdio Detection and Ranging device 900000000000017005 +2884693019 20030731 1 900000000000207008 57430006 en 900000000000550004 A chart-related administrative procedure that checks a chart for completion and accuracy and conformance to chart policy 900000000000017005 +2884693019 20200131 0 900000000000207008 57430006 en 900000000000550004 A chart-related administrative procedure that checks a chart for completion and accuracy and conformance to chart policy 900000000000017005 +2884694013 20030731 1 900000000000207008 56190005 en 900000000000550004 A line segment connecting anterior pole of cornea to posterior pole of sclera 900000000000017005 +2884695014 20030731 1 900000000000207008 54455007 en 900000000000550004 A financial audit to review and/or verify charges 900000000000017005 +2884696010 20030731 1 900000000000207008 58000006 en 900000000000550004 Performance of the steps necessary to discharge a patient from a location of care delivery 900000000000017005 +2884697018 20030731 1 900000000000207008 5668004 en 900000000000550004 Jejunum, ileum, colon, rectum, and anal canal 900000000000017005 +2884698011 20030731 1 900000000000207008 61653009 en 900000000000550004 Fracture and dislocation of the first metacarpal and the carpal-metacarpal joint 900000000000017005 +2884699015 20030731 1 900000000000207008 61685007 en 900000000000550004 Lower extremity, including hip, thigh, leg, ankle, and foot 900000000000017005 +2884699015 20190731 0 900000000000207008 61685007 en 900000000000550004 Lower extremity, including hip, thigh, leg, ankle, and foot 900000000000017005 +2884700019 20100131 1 900000000000207008 63697000 en 900000000000550004 Operation performed using a device that provides oxygenation of blood by diversion away from the heart and lungs through an extracorporeal oxygenation system. 900000000000017005 +2884701015 20030731 1 900000000000207008 62975006 en 900000000000550004 A colorless gas with a characteristic foul odor, used as a fuel and shipped as a liquefied compressed gas 900000000000017005 +2884702010 20030731 1 900000000000207008 6035001 en 900000000000550004 A chart related administrative procedure that involves abstracting information from the chart 900000000000017005 +2884703017 20030731 1 900000000000207008 633004 en 900000000000550004 A chart evaluation performed by a physician 900000000000017005 +2884704011 20030731 1 900000000000207008 61086009 en 900000000000550004 A pulse with repeated irregularity 900000000000017005 +2884705012 20030731 1 900000000000207008 62014003 en 900000000000550004 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA ‘Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting’). 900000000000017005 +2884705012 20210131 0 900000000000207008 62014003 en 900000000000550004 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA ‘Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting’). 900000000000017005 +2884706013 20030731 1 900000000000207008 62057008 en 900000000000550004 A dilation and a stretching 900000000000017005 +2884707016 20030731 1 900000000000207008 60962000 en 900000000000550004 Shell-shaped structure of lateral middle nasal cavity, including bone and covering mucous membrane 900000000000017005 +2884708014 20030731 1 900000000000207008 62972009 en 900000000000550004 Removal done by pulling 900000000000017005 +2884709018 20030731 1 900000000000207008 60726007 en 900000000000550004 A destruction done by injurious pressure. Note that this pressure can be mechanical, as in squeezing between two hard bodies, or can be a pressure wave, as is used to crush internal stones. 900000000000017005 +2884710011 20030731 1 900000000000207008 60753006 en 900000000000550004 Construction of an artificial vagina consisting of a mold covered with a split-thickness skin graft 900000000000017005 +2884711010 20030731 1 900000000000207008 64305001 en 900000000000550004 A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema 900000000000017005 +2884712015 20030731 1 900000000000207008 65801008 en 900000000000550004 Removal done with a cutting instrument 900000000000017005 +2884713013 20030731 1 900000000000207008 6553002 en 900000000000550004 Shell-shaped structure of lateral inferior nasal cavity, including bone and covering mucous membrane 900000000000017005 +2884714019 20030731 1 900000000000207008 68305005 en 900000000000550004 Autonomic plexus derived from the aortic plexus, accompanying iliac arteries 900000000000017005 +2884715018 20030731 1 900000000000207008 68028003 en 900000000000550004 Dilated part of esophagus for food storage in birds 900000000000017005 +2884715018 20140131 0 900000000000207008 68028003 en 900000000000550004 Dilated part of esophagus for food storage in birds 900000000000017005 +2884716017 20030731 1 900000000000207008 64597002 en 900000000000550004 Eradicating all or a portion of a body part 900000000000017005 +2884716017 20210131 0 900000000000207008 64597002 en 900000000000550004 Eradicating all or a portion of a body part 900000000000017005 +2884717014 20030731 1 900000000000207008 68641000 en 900000000000550004 An injection of a gas or powder into a body cavity by positive pressure 900000000000017005 +2884718016 20030731 1 900000000000207008 6595006 en 900000000000550004 Structure with calcium deposition 900000000000017005 +2884718016 20200731 0 900000000000207008 6595006 en 900000000000550004 Structure with calcium deposition 900000000000017005 +2884719012 20030731 1 900000000000207008 66391000 en 900000000000550004 The act of exerting a pulling force 900000000000017005 +2884720018 20030731 1 900000000000207008 64874008 en 900000000000550004 A denervation done using chemicals 900000000000017005 +2884721019 20030731 1 900000000000207008 68688001 en 900000000000550004 Scraping done with a curette 900000000000017005 +2884722014 20030731 1 900000000000207008 7119001 en 900000000000550004 Disease of skin in someone with Lupus erythematosis, though not necessarily systemic or subacute 900000000000017005 +2884722014 20150131 0 900000000000207008 7119001 en 900000000000550004 Disease of skin in someone with Lupus erythematosis, though not necessarily systemic or subacute 900000000000017005 +2884723016 20030731 1 900000000000207008 67889009 en 900000000000550004 Administration that washes with a stream of liquid 900000000000017005 +2884724010 20030731 1 900000000000207008 62834003 en 900000000000550004 Esophagus, stomach, and duodenum 900000000000017005 +2884724010 20200131 0 900000000000207008 62834003 en 900000000000550004 Esophagus, stomach, and duodenum 900000000000017005 +2884725011 20030731 1 900000000000207008 70302008 en 900000000000550004 A division made transversely across a long axis 900000000000017005 +2884726012 20030731 1 900000000000207008 70871006 en 900000000000550004 Biopsy that involves incision and removal of part of a lesion or organ, rather than excision of the entire lesion or organ 900000000000017005 +2884727015 20030731 1 900000000000207008 71937005 en 900000000000550004 A manipulation done by a physiatrist 900000000000017005 +2884728013 20030731 1 900000000000207008 71905009 en 900000000000550004 The sulcus (furrow) below the lower eyelid 900000000000017005 +2884729017 20030731 1 900000000000207008 69079004 en 900000000000550004 Autonomic plexus that runs through the capsule of the prostate and is derived from the inferior hypogastric plexus, and supplies the cavernous nerves of the erectile tissue of penis 900000000000017005 +2884730010 20030731 1 900000000000207008 69105007 en 900000000000550004 One of the common carotid, internal carotid, or external carotid arteries 900000000000017005 +2884731014 20030731 1 900000000000207008 70502009 en 900000000000550004 The act of making a thumb out of a digit (finger or toe) 900000000000017005 +2884732019 20030731 1 900000000000207008 7108004 en 900000000000550004 A destruction that purposefully results in a fracture of bone 900000000000017005 +2884733012 20030731 1 900000000000207008 70730006 en 900000000000550004 Increased destruction of erythrocyte precursors 900000000000017005 +2884734018 20030731 1 900000000000207008 69854003 en 900000000000550004 A subdivision of the enteric plexus that lies within the tunica muscularis of the intestinal tract 900000000000017005 +2884735017 20090131 1 900000000000207008 70881005 en 900000000000550004 Greylag goose subspecies 900000000000017005 +2884736016 20030731 1 900000000000207008 71617008 en 900000000000550004 The part of the oral cavity internal to the teeth and bounded posteriorly by the palatoglossal arch 900000000000017005 +2884737013 20030731 1 900000000000207008 70751009 en 900000000000550004 To bind with a ligature 900000000000017005 +2884738015 20030731 1 900000000000207008 71861002 en 900000000000550004 Introduction of a non biologic device 900000000000017005 +2884739011 20030731 1 900000000000207008 75076004 en 900000000000550004 Congenital absence of the spinal cord and brain 900000000000017005 +2884740013 20030731 1 900000000000207008 75152009 en 900000000000550004 An autogenous transplantation that does not entirely sever the topographic object from the donor spot, at least until it is united at the recipient spot 900000000000017005 +2884740013 20211031 0 900000000000207008 75152009 en 900000000000550004 An autogenous transplantation that does not entirely sever the topographic object from the donor spot, at least until it is united at the recipient spot 900000000000017005 +2884741012 20030731 1 900000000000207008 77066003 en 900000000000550004 Excision of appendix of testis—vestige of Mullerian duct 900000000000017005 +2884741012 20200131 0 900000000000207008 77066003 en 900000000000550004 Excision of appendix of testis—vestige of Mullerian duct 900000000000017005 +2884742017 20030731 1 900000000000207008 10012005 en 900000000000550004 An expulsion done by manipulation 900000000000017005 +2884743010 20030731 1 900000000000207008 119268003 en 900000000000550004 Insufflation of a hollow organ or body cavity with gas, causing it to distend or swell 900000000000017005 +2884744016 20030731 1 900000000000207008 122501008 en 900000000000550004 Procedure to cause two adjacent structures to be structurally joined together 900000000000017005 +2884745015 20030731 1 900000000000207008 122502001 en 900000000000550004 Procedure to fix a mobile or flexible structure to a rigid or inflexible structure 900000000000017005 +2884746019 20030731 1 900000000000207008 122504000 en 900000000000550004 The connection between the manubrium and sternum that has progressed from a symphysis to bony union (synostosis) 900000000000017005 +2884747011 20030731 1 900000000000207008 122458006 en 900000000000550004 An observation of the body or a body part done by inspection and/or palpation 900000000000017005 +2884748018 20030731 1 900000000000207008 122459003 en 900000000000550004 A separation of different structures along natural cleavage lines by dividing the connective tissue framework 900000000000017005 +2884748018 20160131 0 900000000000207008 122459003 en 900000000000550004 A separation of different structures along natural cleavage lines by dividing the connective tissue framework 900000000000017005 +2884749014 20030731 1 900000000000207008 122460008 en 900000000000550004 A repeated exploration 900000000000017005 +2884750014 20030731 1 900000000000207008 122545008 en 900000000000550004 Procedure to arouse the body or any of its parts or organs to increase functional activity 900000000000017005 +2884751013 20060131 1 900000000000207008 409073007 en 900000000000550004 Procedure that is synonymous with those activities such as teaching, demonstration, instruction, explanation, and advice that aim to increase knowledge and skills, change behaviors, assist coping and increase adherence to treatment. 900000000000017005 +2884752018 20030731 1 900000000000207008 122461007 en 900000000000550004 Removal of the contents of a body cavity or container 900000000000017005 +2884753011 20030731 1 900000000000207008 122462000 en 900000000000550004 Evacuation of liquid contents by gravity 900000000000017005 +2884754017 20030731 1 900000000000207008 312004007 en 900000000000550004 The state of reverse blood flow through a valve or orifice 900000000000017005 +2884754017 20150731 0 900000000000207008 312004007 en 900000000000550004 The state of reverse blood flow through a valve or orifice 900000000000017005 +2884755016 20030731 1 900000000000207008 119248009 en 900000000000550004 Increased serum albumin concentration 900000000000017005 +2884756015 20030731 1 900000000000207008 119265000 en 900000000000550004 Helping the body perform a function it normally does on its own 900000000000017005 +2884756015 20150731 0 900000000000207008 119265000 en 900000000000550004 Helping the body perform a function it normally does on its own 900000000000017005 +2884757012 20030731 1 900000000000207008 122489005 en 900000000000550004 Organs of urine formation and secretion 900000000000017005 +2884758019 20030731 1 900000000000207008 122497003 en 900000000000550004 Tendons involved in flexing the wrist joint, excluding flexor tendons that pass through the wrist that flex the fingers 900000000000017005 +2884759010 20030731 1 900000000000207008 122498008 en 900000000000550004 A potential space of the floor of the mouth; part of the submandibular space below the mylohyoid muscle 900000000000017005 +2884760017 20030731 1 900000000000207008 122463005 en 900000000000550004 An injection of some substance into the circulation to occlude vessels, either to arrest or prevent hemorrhaging or to devitalize a structure or organ by occluding its blood supply 900000000000017005 +2884761018 20030731 1 900000000000207008 122464004 en 900000000000550004 Procedure to increase the size, shape, or volume of a body structure 900000000000017005 +2884761018 20220228 0 900000000000207008 122464004 en 900000000000550004 Procedure to increase the size, shape, or volume of a body structure 900000000000017005 +2884762013 20030731 1 900000000000207008 122972007 en 900000000000550004 Any vein draining the lungs, including pulmonary veins proper and their tributaries 900000000000017005 +2884763015 20030731 1 900000000000207008 122465003 en 900000000000550004 A reparative construction that builds or rebuilds a structure that should normally be present 900000000000017005 +2884763015 20211031 0 900000000000207008 122465003 en 900000000000550004 A reparative construction that builds or rebuilds a structure that should normally be present 900000000000017005 +2884764014 20030731 1 900000000000207008 122467006 en 900000000000550004 A measurement or adjustment of a device or biologic material to the right shape or size so as to conform correctly when introduced or transplanted 900000000000017005 +2884765010 20030731 1 900000000000207008 119266004 en 900000000000550004 A destruction of tissue by means that results in condensation of protein material 900000000000017005 +2884766011 20030731 1 900000000000207008 122499000 en 900000000000550004 A potential space of the floor of the mouth; the medial part of the submaxillary space 900000000000017005 +2884767019 20030731 1 900000000000207008 122500009 en 900000000000550004 A potential space containing the pterygoid and masseter muscles 900000000000017005 +2884768012 20060131 1 900000000000207008 409063005 en 900000000000550004 Psychosocial procedure that involves listening, reflecting, etc. to facilitate recognition of course of action / solution. 900000000000017005 +2884769016 20030731 1 900000000000207008 119271006 en 900000000000550004 A destruction of a natural space or lumen by induced fibrosis or inflammation 900000000000017005 +2884770015 20030731 1 900000000000207008 119246008 en 900000000000550004 Muslim prayer leader 900000000000017005 +2884771016 20030731 1 900000000000207008 119283008 en 900000000000550004 Biopsy by open approach, as opposed to percutaneous or endoscopic methods 900000000000017005 +2884772011 20030731 1 900000000000207008 119270007 en 900000000000550004 A plan or recommendation for services, based on an evaluation 900000000000017005 +2884773018 20030731 1 900000000000207008 119247004 en 900000000000550004 Reduced serum albumin concentration 900000000000017005 +2884774012 20030731 1 900000000000207008 119250001 en 900000000000550004 Decreased concentration of the gamma fraction of serum globulin 900000000000017005 +2884775013 20030731 1 900000000000207008 119251002 en 900000000000550004 An inhalation reflex stimulated by an irritation of the mucous membrane of the nose 900000000000017005 +2884776014 20030731 1 900000000000207008 125101009 en 900000000000550004 Merino sheep breed group 900000000000017005 +2884777017 20030731 1 900000000000207008 125102002 en 900000000000550004 Mallard duck species 900000000000017005 +2884777017 20170731 0 900000000000207008 125102002 en 900000000000550004 Mallard duck species 900000000000017005 +2884778010 20030731 1 900000000000207008 125681006 en 900000000000550004 Not currently married 900000000000017005 +2884779019 20030731 1 900000000000207008 127346000 en 900000000000550004 Disorders characterized by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction 900000000000017005 +2884779019 20200131 0 900000000000207008 127346000 en 900000000000550004 Disorders characterized by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction 900000000000017005 +2884780016 20090131 1 900000000000207008 125104001 en 900000000000550004 Greylag goose species 900000000000017005 +2884780016 20170731 0 900000000000207008 125104001 en 900000000000550004 Greylag goose species 900000000000017005 +2884781017 20030731 1 900000000000207008 125105000 en 900000000000550004 Junglefowl genus 900000000000017005 +2884782012 20080731 1 900000000000207008 430975009 en 900000000000550004 A puncture action done to intentionally and non-transiently alter the body structure. 900000000000017005 +2884783019 20090131 1 900000000000207008 438156004 en 900000000000550004 Epileptic seizure provoked by anoxia 900000000000017005 +2884784013 20090131 1 900000000000207008 438113009 en 900000000000550004 Syncope followed by tonic or tonic-clonic movements due to cortical depression and not as a result of a cortical electrical seizure 900000000000017005 +2884785014 20090131 1 900000000000207008 437986008 en 900000000000550004 The triad of nuchal rigidity, photophobia and headache. Not the same as meningismus. 900000000000017005 +2884786010 20090131 1 900000000000207008 437882009 en 900000000000550004 For cerebral dominance, the presence of right dominance or preference for some functions (eye dominance, foot preference, hand preference), and left dominance or preference for others 900000000000017005 +2884787018 20030731 1 900000000000207008 15367004 en 900000000000550004 A medical audit of ancillary services (such as physical therapy, dietary) 900000000000017005 +2884788011 20030731 1 900000000000207008 174000 en 900000000000550004 Vaginopexy according to Williams and Richardson is an abdominal colposuspension by strips from external oblique 900000000000017005 +2884789015 20030731 1 900000000000207008 122865005 en 900000000000550004 Esophagus, stomach, small intestine, and large intestine together as a single entity 900000000000017005 +2884789015 20200131 0 900000000000207008 122865005 en 900000000000550004 Esophagus, stomach, small intestine, and large intestine together as a single entity 900000000000017005 +2884790012 20030731 1 900000000000207008 1648002 en 900000000000550004 Tumor-like mass in lungs composed of fibrous tissue or granulation tissue with inflammatory cells 900000000000017005 +2884790012 20200131 0 900000000000207008 1648002 en 900000000000550004 Tumor-like mass in lungs composed of fibrous tissue or granulation tissue with inflammatory cells 900000000000017005 +2884791011 20090131 1 900000000000207008 16872008 en 900000000000550004 Severe disease manifests factor VIII activity of less than 1%, except in the U.K. and Italy, where severe disease includes factor VIII activity levels of less than 2% 900000000000017005 +2884792016 20030731 1 900000000000207008 12371008 en 900000000000550004 A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs 900000000000017005 +2884792016 20120731 0 900000000000207008 12371008 en 900000000000550004 A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs 900000000000017005 +2884793014 20030731 1 900000000000207008 123976001 en 900000000000550004 A disorder that follows infection but is distinct from the infection itself and its usual manifestations 900000000000017005 +2884794015 20030731 1 900000000000207008 16992002 en 900000000000550004 A manipulation done by an osteopath 900000000000017005 +2884794015 20180131 0 900000000000207008 16992002 en 900000000000550004 A manipulation done by an osteopath 900000000000017005 +2884795019 20030731 1 900000000000207008 16817006 en 900000000000550004 A medical audit of direct care providers 900000000000017005 +2884796018 20030731 1 900000000000207008 1735007 en 900000000000550004 Vibration felt by examiner on the surface of the body 900000000000017005 +2884797010 20100731 1 900000000000207008 360153003 en 900000000000550004 To create a cast or mold of a structure by pressing a malleable material onto it. 900000000000017005 +2884798017 20030731 1 900000000000207008 122869004 en 900000000000550004 An observation, by some objective method, of amount, number, quantity, size, level, extent, or magnitude, resulting in an ordinal or quantitative value 900000000000017005 +2884799013 20030731 1 900000000000207008 122861001 en 900000000000550004 A potential space in the floor of the mouth; the part of the submandibular space above the mylohyoid muscle 900000000000017005 +2884800012 20030731 1 900000000000207008 15270002 en 900000000000550004 Complete obstruction of the intestine due to the presence in the lumen of blocking material, such as tumor, fecalith, gallstone, or foreign body 900000000000017005 +2884800012 20200131 0 900000000000207008 15270002 en 900000000000550004 Complete obstruction of the intestine due to the presence in the lumen of blocking material, such as tumor, fecalith, gallstone, or foreign body 900000000000017005 +2884801011 20030731 1 900000000000207008 1231004 en 900000000000550004 The three membranes that surround the brain and spinal cord, consisting of the dura mater, arachnoid, and pia mater. The pia and arachnoid in combination are referred to as the leptomeninges. 900000000000017005 +2884802016 20030731 1 900000000000207008 17374005 en 900000000000550004 Measurement of CSF pressure following compression of jugular vein 900000000000017005 +2884803014 20030731 1 900000000000207008 1677001 en 900000000000550004 Breast examination for malignancy in which patient leans forward and breasts are examined for abnormal contour 900000000000017005 +2884804015 20030731 1 900000000000207008 16982005 en 900000000000550004 The body part defined by the shoulder joint and its surrounding structures 900000000000017005 +2884805019 20050731 1 900000000000207008 417163006 en 900000000000550004 Disorder resulting from physical damage to the body 900000000000017005 +2884806018 20050731 1 900000000000207008 417746004 en 900000000000550004 Disorder resulting from physical damage to the body 900000000000017005 +2884806018 20150731 0 900000000000207008 417746004 en 900000000000550004 Disorder resulting from physical damage to the body 900000000000017005 +2884807010 20090731 1 900000000000207008 418506006 en 900000000000550004 Harmful physical force inflicted other than by accidental means in the context of a personal role relationship to the abused in which the action violates a social norm 900000000000017005 +2884808017 20030731 1 900000000000207008 125086000 en 900000000000550004 Intersubspecies equine hybrid 900000000000017005 +2884809013 20050131 1 900000000000207008 413577001 en 900000000000550004 Thoracic outlet syndrome, either nerve or vessel compression, due to a cervical rib 900000000000017005 +2884809013 20211130 0 900000000000207008 413577001 en 900000000000550004 Thoracic outlet syndrome, either nerve or vessel compression, due to a cervical rib 900000000000017005 +2884810015 20030731 1 900000000000207008 359593004 en 900000000000550004 Arthrodesis of one or more of the tarsal joints 900000000000017005 +2884811016 20030731 1 900000000000207008 123038009 en 900000000000550004 Material (structure, substance, device) removed from a source (patient, donor, physical location, product) 900000000000017005 +2884812011 20030731 1 900000000000207008 125093001 en 900000000000550004 Intergenus hybrid of cattle 900000000000017005 +2884813018 20030731 1 900000000000207008 125094007 en 900000000000550004 Intersubspecies cattle hybrid 900000000000017005 +2884814012 20030731 1 900000000000207008 125095008 en 900000000000550004 Interspecies hybrid of cattle 900000000000017005 +2884815013 20110131 1 900000000000207008 445967004 en 900000000000550004 A first neurologic episode caused by inflammation/demyelination of one or more central nervous system sites that lasts at least 24 hours. 900000000000017005 +2884816014 20110131 1 900000000000207008 26889001 en 900000000000550004 Inflammation of skeletal muscle, not including inflammation of cardiac muscle 900000000000017005 +2884817017 20030731 1 900000000000207008 23426006 en 900000000000550004 A procedure on the respiratory tract that observes pulmonary function 900000000000017005 +2884818010 20030731 1 900000000000207008 78817002 en 900000000000550004 A construction of an opening between two hollow structures, organs, or spaces, be they real or artificial 900000000000017005 +2884819019 20030731 1 900000000000207008 74923002 en 900000000000550004 A procedure that mobilizes or frees up an abnormally fixed structure 900000000000017005 +2884820013 20030731 1 900000000000207008 76440000 en 900000000000550004 Autonomic dysfunction of unknown etiology in horses, with gut paralysis as primary manifestation 900000000000017005 +2884820013 20140131 0 900000000000207008 76440000 en 900000000000550004 Autonomic dysfunction of unknown etiology in horses, with gut paralysis as primary manifestation 900000000000017005 +2884821012 20030731 1 900000000000207008 78678003 en 900000000000550004 Domestic pig subspecies 900000000000017005 +2884822017 20030731 1 900000000000207008 75180006 en 900000000000550004 A listening of the sounds produced in response to tapping the body surface 900000000000017005 +2884823010 20030731 1 900000000000207008 80406003 en 900000000000550004 Dislocation of joint caused by presence of another disease 900000000000017005 +2884824016 20030731 1 900000000000207008 79869003 en 900000000000550004 An autonomic plexus that branches from the aortic plexus, that sends nerves to descending colon, sigmoid, and rectum along the path of the inferior mesenteric artery 900000000000017005 +2884825015 20030731 1 900000000000207008 76248009 en 900000000000550004 The body part defined by the elbow joint and surrounding structures 900000000000017005 +2884826019 20030731 1 900000000000207008 75506009 en 900000000000550004 A construction of an abnormal passage between a cavity or hollow organ and the surface of the body 900000000000017005 +2884826019 20210930 0 900000000000207008 75506009 en 900000000000550004 A construction of an abnormal passage between a cavity or hollow organ and the surface of the body 900000000000017005 +2884827011 20030731 1 900000000000207008 75184002 en 900000000000550004 Electromagnetic radiation in the visible range 900000000000017005 +2884828018 20030731 1 900000000000207008 74636004 en 900000000000550004 A part of the celiac ganglion that is semidetached and contains sympathetic neurons that innervate the kidney 900000000000017005 +2884828018 20200131 0 900000000000207008 74636004 en 900000000000550004 A part of the celiac ganglion that is semidetached and contains sympathetic neurons that innervate the kidney 900000000000017005 +2884829014 20030731 1 900000000000207008 78141002 en 900000000000550004 A disorder of the superior trunk of the brachial plexus or the fifth and sixth cervical spinal nerves or motor roots, resulting in weakness of proximal upper extremity musculature innervated by these nerve roots 900000000000017005 +2884830016 20030731 1 900000000000207008 72696002 en 900000000000550004 The body part defined by the knee joint and its surrounding structures 900000000000017005 +2884831017 20030731 1 900000000000207008 76729009 en 900000000000550004 Outer coating of eyeball; has parts cornea and sclera 900000000000017005 +2884832012 20030731 1 900000000000207008 65690001 en 900000000000550004 Lymph node along the trachea; may be in either the thorax or the neck 900000000000017005 +2884833019 20030731 1 900000000000207008 65289004 en 900000000000550004 Shell-shaped structure of lateral superior nasal cavity, including bone and covering mucous membrane 900000000000017005 +2884834013 20030731 1 900000000000207008 81036009 en 900000000000550004 An autonomic plexus derived from inferior hypogastric plexus to supply sympathetic nerve fibers to urinary bladder, ureter, ductus deferens, and seminal vesicle 900000000000017005 +2884834013 20200131 0 900000000000207008 81036009 en 900000000000550004 An autonomic plexus derived from inferior hypogastric plexus to supply sympathetic nerve fibers to urinary bladder, ureter, ductus deferens, and seminal vesicle 900000000000017005 +2884835014 20030731 1 900000000000207008 77329001 en 900000000000550004 Habitual breathing through the mouth, usually associated with obstruction of nasal passages 900000000000017005 +2884836010 20030731 1 900000000000207008 77465005 en 900000000000550004 To move body tissue or cells from donor site to recipient site 900000000000017005 +2884837018 20030731 1 900000000000207008 83038001 en 900000000000550004 Anterior region of the thigh 900000000000017005 +2884838011 20030731 1 900000000000207008 79095000 en 900000000000550004 Complete excision and removal of an entire body organ 900000000000017005 +2884839015 20030731 1 900000000000207008 81040000 en 900000000000550004 Includes pulmonary trunk, left and right main pulmonary arteries, and all their branches 900000000000017005 +2884839015 20190731 0 900000000000207008 81040000 en 900000000000550004 Includes pulmonary trunk, left and right main pulmonary arteries, and all their branches 900000000000017005 +2884840018 20030731 1 900000000000207008 81099000 en 900000000000550004 The stiffening of one or more cervical joints by operative means 900000000000017005 +2884841019 20030731 1 900000000000207008 8205005 en 900000000000550004 The body part defined by the wrist joint and surrounding structures 900000000000017005 +2884842014 20030731 1 900000000000207008 64779008 en 900000000000550004 Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system 900000000000017005 +2884842014 20210731 0 900000000000207008 64779008 en 900000000000550004 Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system 900000000000017005 +2884843016 20030731 1 900000000000207008 64157005 en 900000000000550004 Autonomic plexi that are part of the celiac plexus that lies on the greater and lessor curvatures of the stomach 900000000000017005 +2884843016 20150131 0 900000000000207008 64157005 en 900000000000550004 Autonomic plexi that are part of the celiac plexus that lies on the greater and lessor curvatures of the stomach 900000000000017005 +2884844010 20030731 1 900000000000207008 81723002 en 900000000000550004 Excision of normal topography 900000000000017005 +2884845011 20030731 1 900000000000207008 64853007 en 900000000000550004 A vulvovaginoplasty procedure described by Williams to create a vaginal canal 900000000000017005 +2884846012 20030731 1 900000000000207008 67551009 en 900000000000550004 Any abnormality of the third heart sound 900000000000017005 +2884847015 20030731 1 900000000000207008 80917008 en 900000000000550004 Toxic, noxious, or poisonous substance that is produced by a living organism 900000000000017005 +2884848013 20030731 1 900000000000207008 86088003 en 900000000000550004 A puncture into a space with an aspiration of that space 900000000000017005 +2884849017 20030731 1 900000000000207008 8889005 en 900000000000550004 Biopsy that removes an entire lesion, with or without surrounding tissue 900000000000017005 +2884850017 20030731 1 900000000000207008 8389004 en 900000000000550004 The birth canal; consists of uterine cervix, vagina, and vulva 900000000000017005 +2884851018 20030731 1 900000000000207008 86273004 en 900000000000550004 Removal of tissue for diagnostic examination 900000000000017005 +2884851018 20160131 0 900000000000207008 86273004 en 900000000000550004 Removal of tissue for diagnostic examination 900000000000017005 +2884852013 20030731 1 900000000000207008 86588008 en 900000000000550004 Fascia enclosing the extrocular muscles 900000000000017005 +2884852013 20150131 0 900000000000207008 86588008 en 900000000000550004 Fascia enclosing the extrocular muscles 900000000000017005 +2884853015 20030731 1 900000000000207008 88834003 en 900000000000550004 A construction of an alternate route of passage of a bodily substance 900000000000017005 +2884854014 20030731 1 900000000000207008 91539005 en 900000000000550004 One of the great vessels draining venous blood from the right lung 900000000000017005 +2884855010 20030731 1 900000000000207008 85595005 en 900000000000550004 Pulse felt over the abdominal aorta 900000000000017005 +2884856011 20030731 1 900000000000207008 87193006 en 900000000000550004 A fixation that joins together two body parts, rendering them immobile with respect to each other 900000000000017005 +2884857019 20030731 1 900000000000207008 86484008 en 900000000000550004 Any abnormality of the fourth heart sound 900000000000017005 +2884858012 20030731 1 900000000000207008 86064000 en 900000000000550004 An autonomic plexus that is a subdivision of the aortic plexus, or derived from it, that accompanies the testicular artery 900000000000017005 +2884858012 20120731 0 900000000000207008 86064000 en 900000000000550004 An autonomic plexus that is a subdivision of the aortic plexus, or derived from it, that accompanies the testicular artery 900000000000017005 +2884859016 20030731 1 900000000000207008 91454002 en 900000000000550004 Presence of greater than normal number of cells in the cerebrospinal fluid 900000000000017005 +2884860014 20030731 1 900000000000207008 8595004 en 900000000000550004 Part of the enteric plexus situated in the intestinal submucosa 900000000000017005 +2884861013 20030731 1 900000000000207008 85921004 en 900000000000550004 A procedure done by piercing or penetrating with a pointed object or instrument 900000000000017005 +2884862018 20030731 1 900000000000207008 82515000 en 900000000000550004 A small (less than 1 cm) fluid-filled lesion, raised above the plane of surrounding skin 900000000000017005 +2884863011 20030731 1 900000000000207008 9134004 en 900000000000550004 Obsolete method for determining cardiac output by measuring recoil of body due to cardiac contraction 900000000000017005 +2884864017 20030731 1 900000000000207008 76777009 en 900000000000550004 Procedure that applies electrical stimulation to the phrenic nerve to achieve ventilation 900000000000017005 +2884865016 20030731 1 900000000000207008 76145000 en 900000000000550004 An incision done for the purpose of performing an exploration 900000000000017005 +2884866015 20030731 1 900000000000207008 91480001 en 900000000000550004 An administration into the tissues of an ionic substance by means of an electric current 900000000000017005 +2884867012 20030731 1 900000000000207008 76572000 en 900000000000550004 A pulmonary function test that measures lung volumes 900000000000017005 +2884868019 20030731 1 900000000000207008 86075001 en 900000000000550004 Includes both quantitative and qualitative disorders of procoagulants 900000000000017005 +2884869010 20090731 1 900000000000207008 90412006 en 900000000000550004 Device used to examine the entire colon 900000000000017005 +2884870011 20030731 1 900000000000207008 86078004 en 900000000000550004 A procedure that assesses the quality of health care service delivery 900000000000017005 +2884871010 20030731 1 900000000000207008 78064003 en 900000000000550004 Any function involved in the exchange of oxygen and carbon dioxide between the atmosphere and the cells of the body 900000000000017005 +2884872015 20030731 1 900000000000207008 88427007 en 900000000000550004 Colorless gas with a sweet odor, used as fuel and shipped as compressed gas 900000000000017005 +2884872015 20200131 0 900000000000207008 88427007 en 900000000000550004 Colorless gas with a sweet odor, used as fuel and shipped as compressed gas 900000000000017005 +2884873013 20030731 1 900000000000207008 9385004 en 900000000000550004 Subcutaneous tissue including some tissue of finger AND some additional non finger tissue 900000000000017005 +2884874019 20030731 1 900000000000207008 91739007 en 900000000000550004 Fine connective tissue sheath around a muscle fiber 900000000000017005 +2884875018 20030731 1 900000000000207008 95837007 en 900000000000550004 A form of cyanosis that occurs when there is a decrease in oxygen saturation in the arterial blood, usually with an SaO2 of below 75% 900000000000017005 +2884875018 20200731 0 900000000000207008 95837007 en 900000000000550004 A form of cyanosis that occurs when there is a decrease in oxygen saturation in the arterial blood, usually with an SaO2 of below 75% 900000000000017005 +2884876017 20030731 1 900000000000207008 95692001 en 900000000000550004 An abnormal milky appearance of arteries and veins of retina, for example due to lipids in blood greater than 5%, diabetes mellitus, or leukemia 900000000000017005 +2884877014 20090131 1 900000000000207008 95333004 en 900000000000550004 A dermatosis with pruritic sterile papules and pustules that come together to form plaques with papulovesicular borders, and a tendency toward central clearing and hyperpigmentation, with spontaneous exacerbations and remissions. Histologically variable with folliculitis of follicle sheath and perifollicular dermis and spongiosis of follicular epithelium, sometimes with peripheral leukocytosis and or eosinophilia and or eosinophilic abscesses. 900000000000017005 +2884878016 20030731 1 900000000000207008 95323007 en 900000000000550004 Hard non pitting edema and induration of the skin; a finding associated with Buschke’s disease 900000000000017005 +2884878016 20150131 0 900000000000207008 95323007 en 900000000000550004 Hard non pitting edema and induration of the skin; a finding associated with Buschke’s disease 900000000000017005 +2884879012 20030731 1 900000000000207008 9421007 en 900000000000550004 A dilation done with a bougie 900000000000017005 +2884880010 20090131 1 900000000000207008 95442007 en 900000000000550004 Finding characterized by slowing of blood flow to a peripheral body region in association with an increase in oxygen extraction from normally saturated arterial blood 900000000000017005 +2884880010 20200131 0 900000000000207008 95442007 en 900000000000550004 Finding characterized by slowing of blood flow to a peripheral body region in association with an increase in oxygen extraction from normally saturated arterial blood 900000000000017005 +2884881014 20030731 1 900000000000207008 85768003 en 900000000000550004 Median bar-a fibrotic structure across the neck of the prostate causing urethral obstruction 900000000000017005 +2884882019 20030731 1 900000000000207008 82254000 en 900000000000550004 A fixation that is being revised 900000000000017005 +2884883012 20030731 1 900000000000207008 95712005 en 900000000000550004 Eversion of the margin of the pupil 900000000000017005 +2884884018 20030731 1 900000000000207008 95564001 en 900000000000550004 Obstruction of the pancreatic duct leading to swelling of the pancreas as a whole 900000000000017005 +2884885017 20090131 1 900000000000207008 82345001 en 900000000000550004 Involuntary lifting of the legs upon lifting a patient's head. 900000000000017005 +2884886016 20030731 1 900000000000207008 82200002 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus that accompanies the splenic artery 900000000000017005 +2884886016 20200131 0 900000000000207008 82200002 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus that accompanies the splenic artery 900000000000017005 +2884887013 20030731 1 900000000000207008 84157002 en 900000000000550004 The location of the epiphyseal growth plate subsequent to its ossification 900000000000017005 +2884888015 20030731 1 900000000000207008 84299009 en 900000000000550004 Inflammation of a peripheral AND/OR cranial nerve 900000000000017005 +2884889011 20030731 1 900000000000207008 84757009 en 900000000000550004 A disorder characterized by recurrent seizures 900000000000017005 +2884889011 20200131 0 900000000000207008 84757009 en 900000000000550004 A disorder characterized by recurrent seizures 900000000000017005 +2884890019 20030731 1 900000000000207008 9667001 en 900000000000550004 A removal done by tearing away or forcible separation 900000000000017005 +2884891015 20030731 1 900000000000207008 84100007 en 900000000000550004 A clinically oriented interview of a patient or someone familiar with the patient 900000000000017005 +2884892010 20080731 1 900000000000207008 363162000 en 900000000000550004 A disorder of joint(s) caused by the presence of an infectious agent in the joint(s). 900000000000017005 +2884893017 20030731 1 900000000000207008 93040009 en 900000000000550004 A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi 900000000000017005 +2884894011 20030731 1 900000000000207008 90991008 en 900000000000550004 Excision of a fibrous capsule surrounding a prosthetic breast implant 900000000000017005 +2884895012 20030731 1 900000000000207008 94684003 en 900000000000550004 Congenital abnormal vertical shortness of eyelids 900000000000017005 +2884896013 20030731 1 900000000000207008 95336007 en 900000000000550004 Recurrent ulceration and fat necrosis, associated with loss of subcutaneous tissue and a decrease in lower leg circumference 900000000000017005 +2884896013 20190731 0 900000000000207008 95336007 en 900000000000550004 Recurrent ulceration and fat necrosis, associated with loss of subcutaneous tissue and a decrease in lower leg circumference 900000000000017005 +2884897016 20100131 1 900000000000207008 216800002 en 900000000000550004 Accidental poisoning by cadmium and/or cadmium compounds. 900000000000017005 +2884897016 20210930 0 900000000000207008 216800002 en 900000000000550004 Accidental poisoning by cadmium and/or cadmium compounds. 900000000000017005 +2884898014 20090131 1 900000000000207008 363687006 en 900000000000550004 A procedure in which an endoscope is used to access the procedure site. 900000000000017005 +2884899018 20100131 1 900000000000207008 248241002 en 900000000000550004 This is the original version, published in 1974. It has a maximum score of 14. 900000000000017005 +2884900011 20100131 1 900000000000207008 412726003 en 900000000000550004 Duration of the pregnancy 900000000000017005 +2884901010 20040731 1 900000000000207008 386053000 en 900000000000550004 Determination of a value, conclusion, or inference by evaluating evidence 900000000000017005 +2884902015 20100731 1 900000000000207008 391100008 en 900000000000550004 Death of an infant after 28 days of age and before 1 year of age 900000000000017005 +2884903013 20030731 1 900000000000207008 388445009 en 900000000000550004 Horse, donkey, mule genus 900000000000017005 +2884903013 20210131 0 900000000000207008 388445009 en 900000000000550004 Horse, donkey, mule genus 900000000000017005 +2884904019 20030731 1 900000000000207008 388168008 en 900000000000550004 Cattle genus 900000000000017005 +2884905018 20030731 1 900000000000207008 387713003 en 900000000000550004 Planned structural alteration of the body, usually requiring disruption of a body surface (usually skin or mucosa) 900000000000017005 +2884905018 20210731 0 900000000000207008 387713003 en 900000000000550004 Planned structural alteration of the body, usually requiring disruption of a body surface (usually skin or mucosa) 900000000000017005 +2884906017 20030731 1 900000000000207008 388393002 en 900000000000550004 Swine genus 900000000000017005 +2884907014 20030731 1 900000000000207008 387651008 en 900000000000550004 An exploration done using a probe 900000000000017005 +2884908016 20080731 1 900000000000207008 425764006 en 900000000000550004 Transection is a division across the longitudinal axis of a structure 900000000000017005 +2884909012 20030731 1 900000000000207008 384709000 en 900000000000550004 Injury to a ligament due to movement of joint beyond normal range 900000000000017005 +2884909012 20210131 0 900000000000207008 384709000 en 900000000000550004 Injury to a ligament due to movement of joint beyond normal range 900000000000017005 +2884910019 20070731 1 900000000000207008 387124009 en 900000000000550004 Tissue factor, the high-affinity receptor and cofactor for the plasma serine protease VII/VIIa 900000000000017005 +2884911015 20030731 1 900000000000207008 399039004 en 900000000000550004 The integral of the Doppler spectral profile of the diastolic component of pulmonary venous flow. 900000000000017005 +2884912010 20030731 1 900000000000207008 399235004 en 900000000000550004 Volume of blood contained in the left atrium at end-systole. 900000000000017005 +2884913017 20030731 1 900000000000207008 399058008 en 900000000000550004 Ratio of Aortic Valve Acceleration Time to Aortic Valve Ejection Time 900000000000017005 +2884913017 20200731 0 900000000000207008 399058008 en 900000000000550004 Ratio of Aortic Valve Acceleration Time to Aortic Valve Ejection Time 900000000000017005 +2884914011 20030731 1 900000000000207008 399271003 en 900000000000550004 Imaging plane with the transducer at the sternal border oriented along the short axis of the left ventricle, which includes the left ventricle at the level of the papillary muscles, and right ventricle. This plane is inferior to the cordae. 900000000000017005 +2884915012 20030731 1 900000000000207008 399064001 en 900000000000550004 2D, B-mode, B-scan image type 900000000000017005 +2884915012 20150131 0 900000000000207008 399064001 en 900000000000550004 2D, B-mode, B-scan image type 900000000000017005 +2884916013 20030731 1 900000000000207008 399104001 en 900000000000550004 The time interval from the closure of the 1st Doppler spectral taken from the mitral valve to the opening of the 2nd Doppler spectral of the mitral valve. 900000000000017005 +2884916013 20120731 0 900000000000207008 399104001 en 900000000000550004 The time interval from the closure of the 1st Doppler spectral taken from the mitral valve to the opening of the 2nd Doppler spectral of the mitral valve. 900000000000017005 +2884917016 20030731 1 900000000000207008 399106004 en 900000000000550004 Imaging plane with the transducer in the suprasternal notch, oriented along the long axis of the ascending aorta, aortic arch vessels, and proximal descending aorta. 900000000000017005 +2884918014 20080731 1 900000000000207008 399145009 en 900000000000550004 Imaging plane with transducer in suprasternal notch, oriented along short axis of aortic arch. This plane of section visualizes a cross-section of aorta, long axis of RPA, and in the pediatric patient, the left atrium and four pulmonary veins. 900000000000017005 +2884919018 20080731 1 900000000000207008 399036006 en 900000000000550004 Imaging plane with transducer at left sternal border oriented along short axis of left ventricle, which includes left ventricle at level of mitral valve leaflets, ventricular septum, and right ventricle. Plane is inferior to aortic valve at base of heart. 900000000000017005 +2884920012 20030731 1 900000000000207008 399287000 en 900000000000550004 (Diastolic Area – Systolic Area) / Diastolic Area 900000000000017005 +2884920012 20150131 0 900000000000207008 399287000 en 900000000000550004 (Diastolic Area – Systolic Area) / Diastolic Area 900000000000017005 +2884921011 20080731 1 900000000000207008 399371001 en 900000000000550004 Imaging plane with transducer at left sternal border oriented along short axis of left ventricle, which includes left ventricle at level of mitral chords, ventricular septum, and right ventricle. This plane is inferior to mitral valve. 900000000000017005 +2884922016 20030731 1 900000000000207008 399007006 en 900000000000550004 Myocardial tissue velocity by Pulsed Wave Doppler, typically adjacent to the mitral annulus, measured at the time of left atrial contraction. 900000000000017005 +2884923014 20030731 1 900000000000207008 399048009 en 900000000000550004 Peak velocity obtained from Pulsed Wave Doppler or continuous wave Doppler, positioned in the main pulmonary artery. 900000000000017005 +2884924015 20030731 1 900000000000207008 399214001 en 900000000000550004 A coronal imaging plane with the transducer at the cardiac apex which includes the left ventricle, left atrium, right ventricle and right atrium. 900000000000017005 +2884925019 20030731 1 900000000000207008 399301000 en 900000000000550004 Ratio of the Regurgitant Volume to the Stroke Volume: Regurgitant Volume / Inflow Volume. The Regurgitant Volume is the retrograde flow. The Inflow Volume is total antegrade volume. which is the sum of the Regurgitant Volume and net antegrade volume. 900000000000017005 +2884926018 20030731 1 900000000000207008 399339008 en 900000000000550004 Imaging plane with the transducer at the cardiac apex, which includes the left ventricle, left atrium, aortic outflow tract and proximal aorta. Usually visualizes a small portion of the right ventricle in the near field. 900000000000017005 +2884927010 20030731 1 900000000000207008 398998003 en 900000000000550004 View of the Portion of the right ventricle adjacent to the tricuspid valve, the inflow portion of the RV. Common acronym: RVIT. 900000000000017005 +2884928017 20030731 1 900000000000207008 399232001 en 900000000000550004 Imaging plane with the transducer at the cardiac apex, which includes the left ventricle and left atrium. 900000000000017005 +2884929013 20030731 1 900000000000207008 399293008 en 900000000000550004 Epicardial area of the left ventricle, cross section [parasternal short axis view] at the level of the papillary muscles in diastole. 900000000000017005 +2884930015 20080731 1 900000000000207008 399139001 en 900000000000550004 Imaging plane with transducer at left sternal border oriented along long axis of left ventricle, which includes left ventricle, left atrium, aortic outflow tract and proximal aorta. Usually visualizes a small portion of right ventricle. 900000000000017005 +2884931016 20030731 1 900000000000207008 399140004 en 900000000000550004 Transmitral velocity measured at the leaflet tips at the onset of diastole divided by the myocardial velocity measured at the same point in the cardiac cycle. Correlates with left ventricular filling pressure. 900000000000017005 +2884932011 20030731 1 900000000000207008 399023006 en 900000000000550004 Right ventricular systolic pressure calculated from the peak right ventricular-right atrial systolic gradient (from the peak tricuspid regurgitation velocity using the modified Bernoulli equation) plus estimated right atrial/central venous pressure. 900000000000017005 +2884933018 20030731 1 900000000000207008 399062002 en 900000000000550004 Ratio of the Mitral Valve Acceleration Time to the Mitral Valve Deceleration Time. 900000000000017005 +2884934012 20030731 1 900000000000207008 399063007 en 900000000000550004 Semi-major axis is the dimension from the widest minor axis to the apex of the left ventricle at end diastole. 900000000000017005 +2884935013 20030731 1 900000000000207008 399229004 en 900000000000550004 Duration of the transmitral velocity wave during atrial contraction. 900000000000017005 +2884936014 20030731 1 900000000000207008 399354002 en 900000000000550004 The time interval from the peak of the transmitral Doppler early filling velocity to the intersection with the Doppler baseline derived from the slope of the transmitral early filling wave. 900000000000017005 +2884937017 20030731 1 900000000000207008 399030000 en 900000000000550004 Area measurement of the left ventricle in systole. 900000000000017005 +2884938010 20030731 1 900000000000207008 399086000 en 900000000000550004 Area of the mitral annulus adjacent to the left ventricular posterolateral wall. 900000000000017005 +2884939019 20030731 1 900000000000207008 399167005 en 900000000000550004 Myocardial tissue velocity by Pulsed Wave Doppler, typically adjacent to the mitral annulus, measured during left ventricular systole. 900000000000017005 +2884940017 20050131 1 900000000000207008 402567004 en 900000000000550004 Self-limited vesicular eruption of palms and soles 900000000000017005 +2884941018 20040731 1 900000000000207008 410619003 en 900000000000550004 Introduction of a substance or device to the surface of the body 900000000000017005 +2884942013 20040731 1 900000000000207008 410614008 en 900000000000550004 The act of building something 900000000000017005 +2884943015 20090131 1 900000000000207008 439397009 en 900000000000550004 Procedure for treatment of ischemic steal syndrome due to a hemodialysis fistula by creation of a bypass between the proximal portion of the artery and the distal portion of the artery 900000000000017005 +2884943015 20200131 0 900000000000207008 439397009 en 900000000000550004 Procedure for treatment of ischemic steal syndrome due to a hemodialysis fistula by creation of a bypass between the proximal portion of the artery and the distal portion of the artery 900000000000017005 +2884944014 20030731 1 900000000000207008 399154007 en 900000000000550004 (TCO-ET(RVOT))/ET(RVOT), where TCO is TV Closure to Opening time and ET is Ejection Time. 900000000000017005 +2884944014 20150131 0 900000000000207008 399154007 en 900000000000550004 (TCO-ET(RVOT))/ET(RVOT), where TCO is TV Closure to Opening time and ET is Ejection Time. 900000000000017005 +2884945010 20030731 1 900000000000207008 399200001 en 900000000000550004 Imaging plane with the transducer at the subcostal space oriented along the short axis of the left ventricle, either at the aortic valve level (base of heart) or more inferior plane of section through the left ventricle 900000000000017005 +2884946011 20030731 1 900000000000207008 399367004 en 900000000000550004 Area of an orifice as calculated byOrifice area = Peak Instantaneous Flow Rate / Maximal Velocity of the Regurgitant jet at the Jet Orifice 900000000000017005 +2884946011 20150131 0 900000000000207008 399367004 en 900000000000550004 Area of an orifice as calculated byOrifice area = Peak Instantaneous Flow Rate / Maximal Velocity of the Regurgitant jet at the Jet Orifice 900000000000017005 +2884947019 20030731 1 900000000000207008 399266005 en 900000000000550004 (MCO-ET(Left Ventricle OT))/ET(Left Ventricle OT), where MCO is MV Closure to Opening time and ET is Ejection Time. 900000000000017005 +2884947019 20150131 0 900000000000207008 399266005 en 900000000000550004 (MCO-ET(Left Ventricle OT))/ET(Left Ventricle OT), where MCO is MV Closure to Opening time and ET is Ejection Time. 900000000000017005 +2884948012 20030731 1 900000000000207008 399267001 en 900000000000550004 The integral of the Doppler spectral profile of the systolic component of pulmonary venous flow. 900000000000017005 +2884949016 20030731 1 900000000000207008 399309003 en 900000000000550004 Truncated semi-major axis is from widest short axis diameter to the mitral annulus plane in the left ventricle at diastole. 900000000000017005 +2884950016 20080731 1 900000000000207008 399310008 en 900000000000550004 Imaging plane with transducer at subcostal space (inferior to sternum) oriented along long axis of left ventricle, which includes left ventricle and left atrium, right ventricle and right atrium, ventricular septum, and atrial septum. 900000000000017005 +2884951017 20090131 1 900000000000207008 439458000 en 900000000000550004 Disease that manifests either a quantitative or a qualitative defect of factor I 900000000000017005 +2884952012 20030731 1 900000000000207008 399070007 en 900000000000550004 Duration of the retrograde velocity in the pulmonary vein during atrial contraction. 900000000000017005 +2884953019 20030731 1 900000000000207008 399109006 en 900000000000550004 Area measurement of the left ventricle in diastole. 900000000000017005 +2884954013 20030731 1 900000000000207008 399195005 en 900000000000550004 View of the portion of the right ventricle adjacent to the pulmonic valve, the outflow portion of the RV. Common Acronym: RVOT. 900000000000017005 +2884955014 20030731 1 900000000000207008 399238002 en 900000000000550004 Ratio of Pulmonic Valve Acceleration Time to Pulmonic Valve Ejection Time 900000000000017005 +2884956010 20030731 1 900000000000207008 399239005 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the short axis of the left ventricle, at the base of the heart, IVC, atrial septum, tricuspid valve, which includes the aortic valve, right and left atria, right ventricular outflow tract and pulmonic valve, pulmonary artery, and in some patients, the LPA and RPA. 900000000000017005 +2884957018 20030731 1 900000000000207008 399282006 en 900000000000550004 The time interval from the closure of the 1st Doppler spectral taken from the tricuspid valve to the opening of the 2nd Doppler spectral of the tricuspid valve. 900000000000017005 +2884957018 20120731 0 900000000000207008 399282006 en 900000000000550004 The time interval from the closure of the 1st Doppler spectral taken from the tricuspid valve to the opening of the 2nd Doppler spectral of the tricuspid valve. 900000000000017005 +2884958011 20030731 1 900000000000207008 399051002 en 900000000000550004 The time interval from mitral valve closure to aortic valve opening. Measured as the interval between the mitral valve closing click and the aortic valve opening click on Continuous Wave Doppler. 900000000000017005 +2884959015 20030731 1 900000000000207008 399093001 en 900000000000550004 Area of the mitral annulus adjacent to the left ventricular septum and outflow tract. 900000000000017005 +2884960013 20030731 1 900000000000207008 399133000 en 900000000000550004 Myocardial tissue velocity by Pulsed Wave Doppler, typically adjacent to the mitral annulus, measured in early diastole. 900000000000017005 +2884961012 20030731 1 900000000000207008 399264008 en 900000000000550004 Image mode refers to the type of image acquisition (modality). For example, most ultrasound systems use 2D, Color Flow, M Mode and Doppler modes. 900000000000017005 +2884962017 20030731 1 900000000000207008 399306005 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the short axis of the left ventricle. 900000000000017005 +2884963010 20060131 1 900000000000207008 399345000 en 900000000000550004 Document title of adult echocardiography procedure (evidence) report. 900000000000017005 +2884964016 20100731 1 900000000000207008 445084008 en 900000000000550004 Optical filter allowing transmission of blue light 900000000000017005 +2884965015 20100731 1 900000000000207008 445340000 en 900000000000550004 Optical filter allowing transmission of yellow-green light 900000000000017005 +2884966019 20100131 1 900000000000207008 443694000 en 900000000000550004 Type II diabetes mellitus in which the blood glucose levels over time exceed levels such that tests that reflect long-term variation of blood glucose, such as HbA1c, exceed limits that are expected to be achieved by available therapies 900000000000017005 +2884967011 20090731 1 900000000000207008 442084003 en 900000000000550004 Victim of an intentional exertion of physical force so as to cause injury, damage or death 900000000000017005 +2884968018 20100731 1 900000000000207008 445097005 en 900000000000550004 Sexual relations with a person with whom the subject has not previously had such relations within a time frame relevant to some current health issue 900000000000017005 +2884969014 20100731 1 900000000000207008 445165008 en 900000000000550004 Optical filter allowing transmission of blue-green light 900000000000017005 +2884970010 20100731 1 900000000000207008 445278001 en 900000000000550004 Optical filter allowing transmission of violet light 900000000000017005 +2884971014 20100131 1 900000000000207008 443920001 en 900000000000550004 A simple laceration is one without any significant debris or contamination which can be repaired by a single-layer repair 900000000000017005 +2884972019 20090131 1 900000000000207008 439237009 en 900000000000550004 Action taken to restore the structure and or function of a mechanical device 900000000000017005 +2884973012 20100731 1 900000000000207008 445000002 en 900000000000550004 Undertaking a trip from one place to another via aircraft in the sufficiently recent past to be relevant to some current health issue 900000000000017005 +2884974018 20100731 1 900000000000207008 445465004 en 900000000000550004 Optical filter allowing transmission of green light 900000000000017005 +2884975017 20100731 1 900000000000207008 445279009 en 900000000000550004 Optical filter allowing transmission of red light 900000000000017005 +2884976016 20100731 1 900000000000207008 445169002 en 900000000000550004 Optical filter blocking transmission of infrared radiation 900000000000017005 +2884977013 20090731 1 900000000000207008 441915005 en 900000000000550004 Measurement of any function carried out by the kidney or any of its parts as opposed to the function of the whole kidney 900000000000017005 +2884978015 20100131 1 900000000000207008 444422007 en 900000000000550004 Lymph nodes with foci of metastatic neoplasm that measure > 2mm 900000000000017005 +2884979011 20100131 1 900000000000207008 444511005 en 900000000000550004 Number of lymph nodes with metastatic foci of neoplasm that measure > 0.2 mm but < 2 mm and/or consist of > 200 cells 900000000000017005 +2884980014 20100731 1 900000000000207008 444862003 en 900000000000550004 Body mass index at or above 95th percentile as compared to children of the same age and sex 900000000000017005 +2884981013 20090731 1 900000000000207008 441952005 en 900000000000550004 Poisoning due to any chemical substance as defined in the Substance hierarchy. 900000000000017005 +2884982018 20100731 1 900000000000207008 445300006 en 900000000000550004 Emergency room record from admission until discharge or transfer to the ward. 900000000000017005 +2884983011 20100731 1 900000000000207008 445353002 en 900000000000550004 Type II diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. 900000000000017005 +2884984017 20100131 1 900000000000207008 444323003 en 900000000000550004 This is the revised version, published in 1976. It has a maximum score of 15. 900000000000017005 +2884985016 20100131 1 900000000000207008 444074000 en 900000000000550004 Type I diabetes mellitus in which the blood glucose levels over time are kept within a range such that tests that reflect long-term variation of blood glucose, such as HbA1c, do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 +2884986015 20100131 1 900000000000207008 444073006 en 900000000000550004 Type I diabetes mellitus in which the blood glucose levels over time exceed levels such that tests that reflect long-term variation of blood glucose, such as HbA1c, exceed limits that are expected to be achieved by available therapies. 900000000000017005 +2884987012 20100131 1 900000000000207008 444110003 en 900000000000550004 Type I diabetes mellitus in which the blood glucose levels over time are kept within a range such that tests that reflect long-term variation of blood glucose, such as HbA1c, do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 +2884987012 20130731 0 900000000000207008 444110003 en 900000000000550004 Type I diabetes mellitus in which the blood glucose levels over time are kept within a range such that tests that reflect long-term variation of blood glucose, such as HbA1c, do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 +2884988019 20100131 1 900000000000207008 444059002 en 900000000000550004 Hypercholestrolemia in which the blood cholesterol levels over time do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 +2884988019 20150131 0 900000000000207008 444059002 en 900000000000550004 Hypercholestrolemia in which the blood cholesterol levels over time do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 +2884989010 20030731 1 900000000000207008 15778005 en 900000000000550004 Goose genus 900000000000017005 +2884990018 20030731 1 900000000000207008 396620009 en 900000000000550004 Duck genus 900000000000017005 +2884991019 20030731 1 900000000000207008 55566008 en 900000000000550004 Accidental physical contact or exposure with potential or actual harmful effect 900000000000017005 +2884992014 20100731 1 900000000000207008 445254006 en 900000000000550004 Optical filter blocking transmission of ultraviolet radiation 900000000000017005 +2884993016 20100131 1 900000000000207008 444510006 en 900000000000550004 Lymph nodes with foci of metastatic neoplasm that measure ≤ 0.2 mm and consist of ≤ 200 cells 900000000000017005 +2885012018 20030731 1 900000000000207008 45829000 en 900000000000550004 The act of building something 900000000000017005 +2885012018 20040731 0 900000000000207008 45829000 en 900000000000550004 The act of building something 900000000000017005 +2885013011 20030731 1 900000000000207008 399036006 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the short axis of the left ventricle, which includes the left ventricle at the level of the mitral valve leaflets, ventricular septum, and right ventricle. This plane is inferior to the aortic valve at the base of the heart. 900000000000017005 +2885013011 20080731 0 900000000000207008 399036006 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the short axis of the left ventricle, which includes the left ventricle at the level of the mitral valve leaflets, ventricular septum, and right ventricle. This plane is inferior to the aortic valve at the base of the heart. 900000000000017005 +2885014017 20040731 1 900000000000207008 47975008 en 900000000000550004 The pharyngeal part of the tongue, forming the anterior wall of the oropharynx 900000000000017005 +2885014017 20080731 0 900000000000207008 47975008 en 900000000000550004 The pharyngeal part of the tongue, forming the anterior wall of the oropharynx 900000000000017005 +2885015016 20030731 1 900000000000207008 399345000 en 900000000000550004 Document title of aduct echocardiography procedure (evidence) report. 900000000000017005 +2885015016 20060131 0 900000000000207008 399345000 en 900000000000550004 Document title of aduct echocardiography procedure (evidence) report. 900000000000017005 +2885016015 20030731 1 900000000000207008 118629009 en 900000000000550004 An education that includes hands-on practice by the recipient of the education 900000000000017005 +2885016015 20060131 0 900000000000207008 118629009 en 900000000000550004 An education that includes hands-on practice by the recipient of the education 900000000000017005 +2885017012 20030731 1 900000000000207008 50857004 en 900000000000550004 Tissue factor, the high-affinity receptor and cofactor for the plasma serine protease VII/VIIa 900000000000017005 +2885017012 20070731 0 900000000000207008 50857004 en 900000000000550004 Tissue factor, the high-affinity receptor and cofactor for the plasma serine protease VII/VIIa 900000000000017005 +2885018019 20030731 1 900000000000207008 385539003 en 900000000000550004 Determination of a value, conclusion, or inference by evaluating evidence 900000000000017005 +2885018019 20040731 0 900000000000207008 385539003 en 900000000000550004 Determination of a value, conclusion, or inference by evaluating evidence 900000000000017005 +2885019010 20050731 1 900000000000207008 225426007 en 900000000000550004 Introduction of a substance to the body 900000000000017005 +2885019010 20080731 0 900000000000207008 225426007 en 900000000000550004 Introduction of a substance to the body 900000000000017005 +2885020016 20030731 1 900000000000207008 70881005 en 900000000000550004 Greyleg goose subspecies 900000000000017005 +2885020016 20090131 0 900000000000207008 70881005 en 900000000000550004 Greyleg goose subspecies 900000000000017005 +2885021017 20030731 1 900000000000207008 122549002 en 900000000000550004 Disorder resulting from physical damage to the body 900000000000017005 +2885021017 20050731 0 900000000000207008 122549002 en 900000000000550004 Disorder resulting from physical damage to the body 900000000000017005 +2885022012 20030731 1 900000000000207008 47975008 en 900000000000550004 The part of the tongue that is on the floor of the mouth, and is not covered by mucous membrane 900000000000017005 +2885022012 20080731 0 900000000000207008 47975008 en 900000000000550004 The part of the tongue that is on the floor of the mouth, and is not covered by mucous membrane 900000000000017005 +2885023019 20030731 1 900000000000207008 399139001 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the long axis of the left ventricle, which includes the left ventricle, left atrium, aortic outflow tract and proximal aorta. Usually visualizes a small portion of the right ventricle. 900000000000017005 +2885023019 20080731 0 900000000000207008 399139001 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the long axis of the left ventricle, which includes the left ventricle, left atrium, aortic outflow tract and proximal aorta. Usually visualizes a small portion of the right ventricle. 900000000000017005 +2885024013 20030731 1 900000000000207008 399371001 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the short axis of the left ventricle, which includes the left ventricle at the level of the mitral chords, ventricular septum, and right ventricle. This plane is inferior to the mitral valve. 900000000000017005 +2885024013 20080731 0 900000000000207008 399371001 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the short axis of the left ventricle, which includes the left ventricle at the level of the mitral chords, ventricular septum, and right ventricle. This plane is inferior to the mitral valve. 900000000000017005 +2885025014 20030731 1 900000000000207008 68014009 en 900000000000550004 Domestic dog subspecies 900000000000017005 +2885025014 20090131 0 900000000000207008 68014009 en 900000000000550004 Domestic dog subspecies 900000000000017005 +2885026010 20030731 1 900000000000207008 7283002 en 900000000000550004 The pharyngeal part of the tongue, forming the anterior wall of the oropharynx 900000000000017005 +2885026010 20040731 0 900000000000207008 7283002 en 900000000000550004 The pharyngeal part of the tongue, forming the anterior wall of the oropharynx 900000000000017005 +2885027018 20030731 1 900000000000207008 95442007 en 900000000000550004 Disorder characterized by slowing of blood flow to a body region in association with an increase in oxygen extraction from normally saturated arterial blood 900000000000017005 +2885027018 20090131 0 900000000000207008 95442007 en 900000000000550004 Disorder characterized by slowing of blood flow to a body region in association with an increase in oxygen extraction from normally saturated arterial blood 900000000000017005 +2885028011 20030731 1 900000000000207008 373414000 en 900000000000550004 Increased density of lens that occurs with aging; precedes senile nuclear cataract 900000000000017005 +2885028011 20040131 0 900000000000207008 373414000 en 900000000000550004 Increased density of lens that occurs with aging; precedes senile nuclear cataract 900000000000017005 +2885029015 20030731 1 900000000000207008 5880005 en 900000000000550004 An observation of the body or a body part using one of the five human senses (e.g., inspection, palpation, percussion, auscultation) 900000000000017005 +2885029015 20100131 0 900000000000207008 5880005 en 900000000000550004 An observation of the body or a body part using one of the five human senses (e.g., inspection, palpation, percussion, auscultation) 900000000000017005 +2885030013 20030731 1 900000000000207008 56703005 en 900000000000550004 An alcohol obtained from refinement of fusel oil; contains mainly isopentyl alcohol and 2-methyl-1-butanol 900000000000017005 +2885030013 20070731 0 900000000000207008 56703005 en 900000000000550004 An alcohol obtained from refinement of fusel oil; contains mainly isopentyl alcohol and 2-methyl-1-butanol 900000000000017005 +2885031012 20030731 1 900000000000207008 399310008 en 900000000000550004 Imaging plane with the transducer at the subcostal space (inferior to sternum) oriented along the long axis of the left ventricle, which includes the left ventricle, left atrium, right ventricle and right atrium, septum between left and right ventricles, and septum between the left and right atria. 900000000000017005 +2885031012 20080731 0 900000000000207008 399310008 en 900000000000550004 Imaging plane with the transducer at the subcostal space (inferior to sternum) oriented along the long axis of the left ventricle, which includes the left ventricle, left atrium, right ventricle and right atrium, septum between left and right ventricles, and septum between the left and right atria. 900000000000017005 +2885032017 20030731 1 900000000000207008 125104001 en 900000000000550004 Greyleg goose species 900000000000017005 +2885032017 20090131 0 900000000000207008 125104001 en 900000000000550004 Greyleg goose species 900000000000017005 +2885033010 20030731 1 900000000000207008 46197000 en 900000000000550004 Any function or property that is not mainly morphologic or structural, including both measurable and observable features and physiologic actions 900000000000017005 +2885033010 20050131 0 900000000000207008 46197000 en 900000000000550004 Any function or property that is not mainly morphologic or structural, including both measurable and observable features and physiologic actions 900000000000017005 +2885034016 20030731 1 900000000000207008 118628001 en 900000000000550004 Providing knowledge to someone 900000000000017005 +2885034016 20040731 0 900000000000207008 118628001 en 900000000000550004 Providing knowledge to someone 900000000000017005 +2885035015 20030731 1 900000000000207008 363687006 en 900000000000550004 An inspection done with an endoscope 900000000000017005 +2885035015 20090131 0 900000000000207008 363687006 en 900000000000550004 An inspection done with an endoscope 900000000000017005 +2885036019 20030731 1 900000000000207008 399145009 en 900000000000550004 Imaging plane with the transducer in the suprasternal notch, oriented along the short axis of the aortic arch. This plane of section visualizes a cross-section of the aorta, long axis of the RPA, and in the pediatric patient, the left atrium and four pulmonary veins. 900000000000017005 +2885036019 20080731 0 900000000000207008 399145009 en 900000000000550004 Imaging plane with the transducer in the suprasternal notch, oriented along the short axis of the aortic arch. This plane of section visualizes a cross-section of the aorta, long axis of the RPA, and in the pediatric patient, the left atrium and four pulmonary veins. 900000000000017005 +2885037011 20030731 1 900000000000207008 119413000 en 900000000000550004 Hydrocarbon solvents with flash points above 38 degrees C 900000000000017005 +2885037011 20070131 0 900000000000207008 119413000 en 900000000000550004 Hydrocarbon solvents with flash points above 38 degrees C 900000000000017005 +2885038018 20030731 1 900000000000207008 271781008 en 900000000000550004 An assertion about the state of the patient (or the subject of study), including findings, diseases, disorders, observations, assessments, conclusions, inferences, and so forth 900000000000017005 +2885038018 20040131 0 900000000000207008 271781008 en 900000000000550004 An assertion about the state of the patient (or the subject of study), including findings, diseases, disorders, observations, assessments, conclusions, inferences, and so forth 900000000000017005 +2885039014 20030731 1 900000000000207008 109750005 en 900000000000550004 Noncarious lesion, where tooth is fatigued, flexed, and deformed by biomechanical loading of the tooth structure, primarily at the cervical region. These are usually wedge-shaped lesions with sharp-line angles, but sometimes are circular invaginations on occlusal surfaces. 900000000000017005 +2885039014 20080731 0 900000000000207008 109750005 en 900000000000550004 Noncarious lesion, where tooth is fatigued, flexed, and deformed by biomechanical loading of the tooth structure, primarily at the cervical region. These are usually wedge-shaped lesions with sharp-line angles, but sometimes are circular invaginations on occlusal surfaces. 900000000000017005 +2885040011 20030731 1 900000000000207008 82413005 en 900000000000550004 A crushing of calculi (stone). 900000000000017005 +2885040011 20070731 0 900000000000207008 82413005 en 900000000000550004 A crushing of calculi (stone). 900000000000017005 +2885041010 20030731 1 900000000000207008 74478000 en 900000000000550004 Anomalous flow of blood between different parts of the circulation 900000000000017005 +2885041010 20090731 0 900000000000207008 74478000 en 900000000000550004 Anomalous flow of blood between different parts of the circulation 900000000000017005 +2885042015 20030731 1 900000000000207008 125096009 en 900000000000550004 Intergenus cattle hybrid 900000000000017005 +2885042015 20040131 0 900000000000207008 125096009 en 900000000000550004 Intergenus cattle hybrid 900000000000017005 +2885043013 20030731 1 900000000000207008 95333004 en 900000000000550004 A dermatosis with pruritic sterile papules and pustules that come together to form plaques with papulovesicular borders, and a tendency toward central clearing and hyperpigmentation, with spontaneous exacerbations and remissions. Histologically variable with folliculitis of follicle sheath and perifollicular dermis and spongiosis of follicular epithelium, sometimes with peripheral leukocytosis and or eosinophilia and or eosinophilic abscesses. 900000000000017005 +2885043013 20090131 0 900000000000207008 95333004 en 900000000000550004 A dermatosis with pruritic sterile papules and pustules that come together to form plaques with papulovesicular borders, and a tendency toward central clearing and hyperpigmentation, with spontaneous exacerbations and remissions. Histologically variable with folliculitis of follicle sheath and perifollicular dermis and spongiosis of follicular epithelium, sometimes with peripheral leukocytosis and or eosinophilia and or eosinophilic abscesses. 900000000000017005 +2885044019 20030731 1 900000000000207008 53488008 en 900000000000550004 Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities 900000000000017005 +2885044019 20040731 0 900000000000207008 53488008 en 900000000000550004 Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities 900000000000017005 +2885045018 20030731 1 900000000000207008 25560004 en 900000000000550004 Self -limited vesicular eruption of palms and soles 900000000000017005 +2885045018 20050131 0 900000000000207008 25560004 en 900000000000550004 Self -limited vesicular eruption of palms and soles 900000000000017005 +2885046017 20030731 1 900000000000207008 108234007 en 900000000000550004 Introduction of a substance to the body 900000000000017005 +2885046017 20050731 0 900000000000207008 108234007 en 900000000000550004 Introduction of a substance to the body 900000000000017005 +2885047014 20030731 1 900000000000207008 95409006 en 900000000000550004 Thoracic outlet syndrome, either nerve or vessel compression, due to a cervical rib 900000000000017005 +2885047014 20050131 0 900000000000207008 95409006 en 900000000000550004 Thoracic outlet syndrome, either nerve or vessel compression, due to a cervical rib 900000000000017005 +2885048016 20030731 1 900000000000207008 65073006 en 900000000000550004 Introduction of a substance or device to the surface of the body 900000000000017005 +2885048016 20040731 0 900000000000207008 65073006 en 900000000000550004 Introduction of a substance or device to the surface of the body 900000000000017005 +2885049012 20030731 1 900000000000207008 95335006 en 900000000000550004 A decrease in lower leg circumference due to recurrent ulceration and fat necrosis causing loss of subcutaneous tissue in a patient with venous stasis disease 900000000000017005 +2885049012 20040731 0 900000000000207008 95335006 en 900000000000550004 A decrease in lower leg circumference due to recurrent ulceration and fat necrosis causing loss of subcutaneous tissue in a patient with venous stasis disease 900000000000017005 +2902380018 20110731 1 900000000000207008 447227007 en 900000000000550004 An otic route that begins across the tympanic cavity. 900000000000017005 +2902381019 20110731 1 900000000000207008 447964005 en 900000000000550004 A route that begins anywhere in the digestive tract extending from the mouth through the rectum. 900000000000017005 +2902382014 20110731 1 900000000000207008 447694001 en 900000000000550004 A route that begins within the respiratory tract, including the oropharynx and nasopharynx. 900000000000017005 +2902383016 20110731 1 900000000000207008 418821007 en 900000000000550004 An intraocular route that begins in the anterior chamber of the eyeball. 900000000000017005 +2902384010 20110731 1 900000000000207008 447052000 en 900000000000550004 A dental route that begins around a tooth. 900000000000017005 +2902385011 20110731 1 900000000000207008 419243002 en 900000000000550004 A route that begins through the cervix. 900000000000017005 +2902386012 20110731 1 900000000000207008 419778001 en 900000000000550004 An intrapulmonary tract route that begins within the bronchus. 900000000000017005 +2902387015 20110731 1 900000000000207008 37161004 en 900000000000550004 An intracolonic route that begins in the rectum. 900000000000017005 +2902388013 20110731 1 900000000000207008 418730005 en 900000000000550004 An intrajejunal route that begins through the nose and into the jejunum by means of a tube. 900000000000017005 +2902389017 20110731 1 900000000000207008 372473007 en 900000000000550004 An oral route that begins on the moist tissue lining the oral cavity. 900000000000017005 +2902390014 20110731 1 900000000000207008 418877009 en 900000000000550004 An intra-articular route that begins within the synovial cavity of a joint. 900000000000017005 +2902391013 20110731 1 900000000000207008 419021003 en 900000000000550004 An intratumor route that begins within a tumor cavity. 900000000000017005 +2902392018 20110731 1 900000000000207008 419762003 en 900000000000550004 A route that begins around a tendon. 900000000000017005 +2902393011 20110731 1 900000000000207008 418892005 en 900000000000550004 An intracranial and intrathecal route that begins within the cisterna magna cerebellomedullaris. 900000000000017005 +2902394017 20110731 1 900000000000207008 418162004 en 900000000000550004 An intracolonic and gastro-intestinal stoma route that begins through a surgically created opening into the colon (part of the large intestine measured from the cecum to the rectum). 900000000000017005 +2902395016 20110731 1 900000000000207008 447122006 en 900000000000550004 A route that begins within a tumor. 900000000000017005 +2902396015 20110731 1 900000000000207008 418813001 en 900000000000550004 A route that begins through a surgical drain. 900000000000017005 +2902397012 20110731 1 900000000000207008 372463005 en 900000000000550004 An intra-arterial route that begins within the coronary arteries. 900000000000017005 +2902398019 20110731 1 900000000000207008 372458006 en 900000000000550004 An intrauterine route that begins on the inside of the amniotic cavity. 900000000000017005 +2902399010 20110731 1 900000000000207008 418204005 en 900000000000550004 A route that begins within or around the tissues surrounding the urethra. 900000000000017005 +2902400015 20110731 1 900000000000207008 418287000 en 900000000000550004 A dental route that begins within a portion of a tooth which is covered by enamel and which is separated from the roots by a slightly constricted region known as the neck. 900000000000017005 +2902401016 20110731 1 900000000000207008 418947002 en 900000000000550004 A route that begins within the testicles (male reproductive glands). 900000000000017005 +2902402011 20110731 1 900000000000207008 372471009 en 900000000000550004 A body cavity route that begins within the bladder cavity. 900000000000017005 +2902403018 20110731 1 900000000000207008 448826009 en 900000000000550004 A short contemporaneous record of surgery, often followed by a complete and detailed procedure record 900000000000017005 +2902404012 20110731 1 900000000000207008 417985001 en 900000000000550004 A gastroenteral route that begins in the intestinal tract (within the small and large intestines). 900000000000017005 +2902405013 20110731 1 900000000000207008 419810008 en 900000000000550004 A route that begins within the prostate gland. 900000000000017005 +2902406014 20110731 1 900000000000207008 372457001 en 900000000000550004 An oral and topical route that begins on the gingivae. 900000000000017005 +2902407017 20110731 1 900000000000207008 372461007 en 900000000000550004 A route that begins within a pathologic cavity. 900000000000017005 +2902408010 20110731 1 900000000000207008 372452007 en 900000000000550004 A respiratory tract route that begins within the trachea. 900000000000017005 +2902409019 20110731 1 900000000000207008 72607000 en 900000000000550004 An intrameningeal route that begins within the subarachnoid space in the cerebrospinal fluid, at any level of the cerebrospinal axis, including within the cerebral ventricles. 900000000000017005 +2902410012 20110731 1 900000000000207008 418331006 en 900000000000550004 A periarticular route that begins within the articular cartilage. 900000000000017005 +2902411011 20110731 1 900000000000207008 446435000 en 900000000000550004 An intracardiac route that begins in the endocardium. 900000000000017005 +2902412016 20110731 1 900000000000207008 445755006 en 900000000000550004 A route that begins with the vascular system. 900000000000017005 +2902413014 20110731 1 900000000000207008 446105004 en 900000000000550004 An ophthalmic and topical route that begins on the conjunctiva. 900000000000017005 +2902414015 20110731 1 900000000000207008 419320008 en 900000000000550004 A route that begins beneath a tendon. 900000000000017005 +2902415019 20110731 1 900000000000207008 445769006 en 900000000000550004 A route that begins within the dilatable spaces of the corpus cavernosa of the penis. 900000000000017005 +2902416018 20110731 1 900000000000207008 419684008 en 900000000000550004 A route that begins within a ureter. 900000000000017005 +2902417010 20110731 1 900000000000207008 428191002 en 900000000000550004 A topical route that begins on the skin and that has the propensity to be absorbed through the skin. 900000000000017005 +2902418017 20110731 1 900000000000207008 419894000 en 900000000000550004 A route that begins within a surgical cavity. 900000000000017005 +2902419013 20110731 1 900000000000207008 448077001 en 900000000000550004 A route that begins within the epidermis of the skin. 900000000000017005 +2902420019 20110731 1 900000000000207008 445756007 en 900000000000550004 A meningeal route that begins within the dura. 900000000000017005 +2902421015 20110731 1 900000000000207008 447080003 en 900000000000550004 A meningeal route that begins within the space surrounding the dura mater of the spinal cord. 900000000000017005 +2902422010 20110731 1 900000000000207008 446407004 en 900000000000550004 An intrathoracic route that begins within the epicardium. 900000000000017005 +2902423017 20110731 1 900000000000207008 445771006 en 900000000000550004 An intrathoracic route that begins within the pericardium. 900000000000017005 +2902424011 20110731 1 900000000000207008 445767008 en 900000000000550004 A route that begins within the meninges. 900000000000017005 +2902425012 20110731 1 900000000000207008 445754005 en 900000000000550004 An oral route that begins within the gingivae. 900000000000017005 +2902426013 20110731 1 900000000000207008 447229005 en 900000000000550004 An endotracheopulmonary route that begins through the wall of the trachea. 900000000000017005 +2902427016 20110731 1 900000000000207008 447931005 en 900000000000550004 Presence of either fever, hypotension, or oliguria in a patient who meets the following three criteria: blood was not cultured or no microorganism was isolated; there was no apparent infection at another site; and appropriate antimicrobial therapy for sepsis was initiated. 900000000000017005 +2902428014 20110731 1 900000000000207008 446442000 en 900000000000550004 An intrauterine route for a substance that has the propensity for fetal absorption via the placenta. 900000000000017005 +2902429018 20110731 1 900000000000207008 445768003 en 900000000000550004 A gastroenteral route that begins within the stomach. 900000000000017005 +2902430011 20110731 1 900000000000207008 445752009 en 900000000000550004 A gastroenteral route that begins within the esophagus. 900000000000017005 +2902431010 20110731 1 900000000000207008 446540005 en 900000000000550004 An intracranial route that begins within the cerebrum. 900000000000017005 +2902432015 20110731 1 900000000000207008 372454008 en 900000000000550004 A digestive tract route that begins in the gastrointestinal tract (from the upper esophagus through the rectum). 900000000000017005 +2902433013 20110731 1 900000000000207008 448564004 en 900000000000550004 Atresia of the pulmonary valve and/or the subvalvular region of the pulmonary valve 900000000000017005 +2902434019 20110731 1 900000000000207008 448491004 en 900000000000550004 An enteral route that begins within the jejunum. 900000000000017005 +2902435018 20110731 1 900000000000207008 448492006 en 900000000000550004 An enteral route that begins within the colon. 900000000000017005 +2902436017 20110731 1 900000000000207008 404815008 en 900000000000550004 A route that begins on the surface of mucosal tissue and has the propensity for systemic absorption via the submucosa. 900000000000017005 +2902437014 20110731 1 900000000000207008 448598008 en 900000000000550004 A topical route that begins on the skin or cutaneous wounds and/or nails and/or hair in order to obtain a local effect. 900000000000017005 +2902438016 20110731 1 900000000000207008 447026006 en 900000000000550004 An enteral route that begins within the ileum. 900000000000017005 +2902439012 20110731 1 900000000000207008 419954003 en 900000000000550004 An intraileal and gastro-intestinal stoma route that begins through a surgically created opening into the ileum. 900000000000017005 +2902440014 20110731 1 900000000000207008 372470005 en 900000000000550004 An intraosseous route that begins within the bone marrow of the sternum. 900000000000017005 +2902441013 20110731 1 900000000000207008 372460008 en 900000000000550004 A route that begins within the heart. 900000000000017005 +2902442018 20110731 1 900000000000207008 418851001 en 900000000000550004 A route that begins next to the uterine cervix. 900000000000017005 +2902443011 20110731 1 900000000000207008 16857009 en 900000000000550004 A route that begins in the vagina. 900000000000017005 +2902444017 20110731 1 900000000000207008 127490009 en 900000000000550004 An intragastric and gastrointestinal stoma route that begins through a surgically created opening into the stomach. 900000000000017005 +2902445016 20110731 1 900000000000207008 372466002 en 900000000000550004 A route that begins within a localized lesion. 900000000000017005 +2902446015 20110731 1 900000000000207008 372449004 en 900000000000550004 An oral route that begins on or around the teeth or in the teeth. 900000000000017005 +2902447012 20110731 1 900000000000207008 58100008 en 900000000000550004 An intravascular route that begins within an artery. 900000000000017005 +2902448019 20110731 1 900000000000207008 420287000 en 900000000000550004 An intracardiac route that begins within a cardiac ventricle. 900000000000017005 +2902449010 20110731 1 900000000000207008 372465003 en 900000000000550004 An intraspinal route that begins within a fibrocartilaginous intervertebral disc. 900000000000017005 +2902450010 20110731 1 900000000000207008 90028008 en 900000000000550004 A route that begins within the urethra. 900000000000017005 +2902451014 20110731 1 900000000000207008 37839007 en 900000000000550004 An oromucosal route that begins beneath the tongue. 900000000000017005 +2902452019 20110731 1 900000000000207008 418418000 en 900000000000550004 A route that begins within the vertebral column. 900000000000017005 +2902453012 20110731 1 900000000000207008 420218003 en 900000000000550004 An intraduodenal route that begins through the nose and into the duodenum, usually by means of a tube. 900000000000017005 +2902454018 20110731 1 900000000000207008 404819002 en 900000000000550004 A route that begins within the bile, bile ducts or gallbladder. 900000000000017005 +2902455017 20110731 1 900000000000207008 78421000 en 900000000000550004 A route that begins within a muscle. 900000000000017005 +2902456016 20110731 1 900000000000207008 127491008 en 900000000000550004 An enteral and gastro-intestinal stoma route that begins through a surgically created opening in the jejunum. 900000000000017005 +2902457013 20110731 1 900000000000207008 418401004 en 900000000000550004 An intraocular route that begins within the vitreous humor of the eyeball. 900000000000017005 +2902458015 20110731 1 900000000000207008 12130007 en 900000000000550004 A route that begins within a joint. 900000000000017005 +2902459011 20110731 1 900000000000207008 54471007 en 900000000000550004 An oromucosal route that begins on the moist tissue lining of the cheek within the oral cavity. 900000000000017005 +2902460018 20110731 1 900000000000207008 47625008 en 900000000000550004 An intravascular route that begins within a vein. 900000000000017005 +2902461019 20110731 1 900000000000207008 418586008 en 900000000000550004 A route that begins within a tendon. 900000000000017005 +2902462014 20110731 1 900000000000207008 127492001 en 900000000000550004 An intragastric route that begins through the nose and into the stomach by means of a tube. 900000000000017005 +2902463016 20110731 1 900000000000207008 420719007 en 900000000000550004 An intracerebral and intrathecal route that begins within a cerebral ventricle. 900000000000017005 +2902464010 20110731 1 900000000000207008 26643006 en 900000000000550004 A digestive tract route that begins in the mouth. 900000000000017005 +2902465011 20110731 1 900000000000207008 62226000 en 900000000000550004 A body cavity route that begins within the uterine cavity. 900000000000017005 +2902466012 20110731 1 900000000000207008 372468001 en 900000000000550004 An ophthalmic route that begins within the eyeball. 900000000000017005 +2902467015 20110731 1 900000000000207008 419231003 en 900000000000550004 A respiratory tract route that begins within the nasal or periorbital sinuses. 900000000000017005 +2902468013 20110731 1 900000000000207008 420201002 en 900000000000550004 A respiratory tract route that begins within the lungs or its bronchi. 900000000000017005 +2902469017 20110731 1 900000000000207008 37737002 en 900000000000550004 A route that begins within the channel of a tubular structure or tubular organ. 900000000000017005 +2902470016 20110731 1 900000000000207008 372450004 en 900000000000550004 A route that begins within the canal of the cervix uteri. 900000000000017005 +2902471017 20110731 1 900000000000207008 417989007 en 900000000000550004 A route that begins within the duct of a gland. 900000000000017005 +2902472012 20110731 1 900000000000207008 45890007 en 900000000000550004 A topical route that begins on the skin and has the propensity for systemic absorption via the dermal layer. 900000000000017005 +2902473019 20110731 1 900000000000207008 34206005 en 900000000000550004 A route that begins in subcutaneous tissue. 900000000000017005 +2902474013 20110731 1 900000000000207008 418722009 en 900000000000550004 An ophthalmic route that begins around the eyeball. 900000000000017005 +2902475014 20110731 1 900000000000207008 418664002 en 900000000000550004 A respiratory tract route that begins with direct application to the oropharynx. 900000000000017005 +2902476010 20110731 1 900000000000207008 417950001 en 900000000000550004 A route that begins within the thorax internal to the ribs. 900000000000017005 +2902477018 20110731 1 900000000000207008 416174007 en 900000000000550004 An ophthalmic route that begins beneath the orbit of the eye. 900000000000017005 +2902478011 20110731 1 900000000000207008 417070009 en 900000000000550004 An intraspinal route that begins within the cauda equina. 900000000000017005 +2902479015 20110731 1 900000000000207008 372459003 en 900000000000550004 A route that begins within a bursa. 900000000000017005 +2902480017 20110731 1 900000000000207008 46713006 en 900000000000550004 A respiratory tract route that begins in the nasal cavity. 900000000000017005 +2902481018 20110731 1 900000000000207008 420254004 en 900000000000550004 A route that begins within a non-pathologic hollow cavity, such as that of the abdominal cavity or uterus. 900000000000017005 +2902482013 20110731 1 900000000000207008 420185003 en 900000000000550004 A respiratory tract route that begins on the larynx. 900000000000017005 +2902483015 20110731 1 900000000000207008 420204005 en 900000000000550004 A fistula route that begins within a mucous fistula. 900000000000017005 +2902484014 20110731 1 900000000000207008 418987007 en 900000000000550004 A route that begins within the skull. 900000000000017005 +2902485010 20110731 1 900000000000207008 419165009 en 900000000000550004 A route that begins next to one or more vertebra. 900000000000017005 +2902486011 20110731 1 900000000000207008 418114005 en 900000000000550004 An intravenous route that begins within the jugular, subclavian or femoral veins. 900000000000017005 +2902487019 20110731 1 900000000000207008 419396008 en 900000000000550004 A route that begins within the abdomen. 900000000000017005 +2902488012 20110731 1 900000000000207008 38239002 en 900000000000550004 A body cavity route that begins within the peritoneal cavity and that has the propensity for absorption via the peritoneal membrane. 900000000000017005 +2902489016 20110731 1 900000000000207008 372451000 en 900000000000550004 An intrasinal route that begins within the nasal sinus. 900000000000017005 +2902490013 20110731 1 900000000000207008 418136008 en 900000000000550004 A gastroenteral route that begins through a surgically created opening into the gastrointestinal tract. 900000000000017005 +2902491012 20110731 1 900000000000207008 420047004 en 900000000000550004 A route that begins within the periosteum. 900000000000017005 +2902492017 20110731 1 900000000000207008 418511008 en 900000000000550004 A urethral route that begins through the urethra. 900000000000017005 +2902493010 20110731 1 900000000000207008 420163009 en 900000000000550004 An intraesophageal and gastrointestinal stoma route that begins through a surgically created opening into the esophagus. 900000000000017005 +2902494016 20110731 1 900000000000207008 372467006 en 900000000000550004 A route that begins within the lymphatic vessels or nodes. 900000000000017005 +2902495015 20110731 1 900000000000207008 417255000 en 900000000000550004 A route that begins within the bone. 900000000000017005 +2902496019 20110731 1 900000000000207008 372476004 en 900000000000550004 An ophthalmic route that begins beneath the conjunctiva. 900000000000017005 +2902497011 20110731 1 900000000000207008 418091004 en 900000000000550004 An otic route that begins within the auris media. 900000000000017005 +2902498018 20110731 1 900000000000207008 419601003 en 900000000000550004 A gingival route that begins beneath the free margin of the gingivae. 900000000000017005 +2902499014 20110731 1 900000000000207008 10547007 en 900000000000550004 A route that begins on, in or by way of the ear. 900000000000017005 +2902500017 20110731 1 900000000000207008 372475000 en 900000000000550004 A route that begins around a nerve or nerves. 900000000000017005 +2902501018 20110731 1 900000000000207008 419874009 en 900000000000550004 A route that begins beneath the mucous membrane. 900000000000017005 +2902502013 20110731 1 900000000000207008 418441008 en 900000000000550004 An intragastric route that begins through the mouth and into the stomach by means of a tube. 900000000000017005 +2902503015 20110731 1 900000000000207008 54485002 en 900000000000550004 A route that begins in the eye region. 900000000000017005 +2902504014 20110731 1 900000000000207008 418887008 en 900000000000550004 An enteral route that begins within the duodenum. 900000000000017005 +2902505010 20110731 1 900000000000207008 372464004 en 900000000000550004 A route that begins within the dermis of the skin. 900000000000017005 +2902506011 20110731 1 900000000000207008 404820008 en 900000000000550004 A meningeal route that begins within the space surrounding the dura mater within the epidural space. 900000000000017005 +2902507019 20110731 1 900000000000207008 6064005 en 900000000000550004 A route that begins on the surface of the body. 900000000000017005 +2902508012 20110731 1 900000000000207008 60213007 en 900000000000550004 An intraosseous route that begins within the marrow cavity of a bone. 900000000000017005 +2902509016 20110731 1 900000000000207008 372453002 en 900000000000550004 An intrauterine route that is introduced between the amnion and the chorion. 900000000000017005 +2902510014 20110731 1 900000000000207008 445941009 en 900000000000550004 A route that begins within the liver. 900000000000017005 +2902511013 20110731 1 900000000000207008 445913005 en 900000000000550004 An oral route that begins in the tongue. 900000000000017005 +2902512018 20110731 1 900000000000207008 429817007 en 900000000000550004 A route that begins within the interstices of a tissue. 900000000000017005 +2902513011 20110731 1 900000000000207008 418321004 en 900000000000550004 An ophthalmic route that begins behind the eyeball or pons of the eye. 900000000000017005 +2902514017 20110731 1 900000000000207008 372469009 en 900000000000550004 A route that begins within the pleura or pleural space. 900000000000017005 +2902515016 20110731 1 900000000000207008 372474001 en 900000000000550004 A route that begins within the tissues surrounding a joint. 900000000000017005 +2902516015 20110731 1 900000000000207008 419993007 en 900000000000550004 An intravenous route that begins in a peripheral vein. 900000000000017005 +2902517012 20110731 1 900000000000207008 418608002 en 900000000000550004 An ophthalmic route that begins within the cornea. 900000000000017005 +2902518019 20110731 1 900000000000207008 419631009 en 900000000000550004 A route that begins within an ovary or ovaries. 900000000000017005 +2902519010 20110731 1 900000000000207008 447242005 en 900000000000550004 A gastroenteral route that begins within the ruminant stomach. 900000000000017005 +2902519010 20140131 0 900000000000207008 447242005 en 900000000000550004 A gastroenteral route that begins within the ruminant stomach. 900000000000017005 +2902520016 20110731 1 900000000000207008 418743005 en 900000000000550004 A route that begins through a fistula. 900000000000017005 +2902521017 20110731 1 900000000000207008 447121004 en 900000000000550004 A route that begins within the breast. 900000000000017005 +2902522012 20110731 1 900000000000207008 420168000 en 900000000000550004 A route that begins through a surgically created opening into the urinary tract. 900000000000017005 +2902523019 20110731 1 900000000000207008 418133000 en 900000000000550004 A route that begins within the myometrium. 900000000000017005 +2913204014 20120131 1 900000000000207008 449808000 en 900000000000550004 Laceration of perineum during delivery involving more than 50 percent of external anal sphincter thickness 900000000000017005 +2913205010 20120131 1 900000000000207008 449807005 en 900000000000550004 Laceration of perineum during delivery involving less than 50 percent of external anal sphincter thickness 900000000000017005 +2913206011 20120131 1 900000000000207008 95453001 en 900000000000550004 A collection of extravascular blood in the intracranial subdural space 900000000000017005 +2913207019 20120131 1 900000000000207008 449809008 en 900000000000550004 Laceration of perineum during delivery involving internal anal sphincter 900000000000017005 +2913208012 20120131 1 900000000000207008 35486000 en 900000000000550004 Bleeding into the intracranial subdural space 900000000000017005 +2913226010 20120131 1 900000000000207008 31092005 en 900000000000550004 An area of pseudoinfarction with congestion and parenchymal atrophy but no infarction 900000000000017005 +2916661015 20120731 1 900000000000207008 450451007 en 900000000000550004 Body mass index percentile above the 85th and below the 95th percentile as compared to children of the same age and sex. 900000000000017005 +2916662010 20120731 1 900000000000207008 21454007 en 900000000000550004 Bleeding into the intracranial subarachnoid space 900000000000017005 +2916663017 20120731 1 900000000000207008 82999001 en 900000000000550004 Bleeding into the intracranial extradural space 900000000000017005 +2916664011 20120731 1 900000000000207008 230710000 en 900000000000550004 Bleeding into the cortex or white matter of a cerebral lobe 900000000000017005 +2917010019 20120731 1 900000000000207008 238850005 en 900000000000550004 A rare syndrome that presents with recurrent aphthous ulcers and relapsing polychondritis, and often but not always is accompanied by the features of Behcet's syndrome, which include genital ulcers and uveitis. 900000000000017005 +2921164012 20120731 1 900000000000207008 107733003 en 900000000000550004 Introduction of object AND/OR substance into or onto body, including injection, implantation, infusion, perfusion, transfusion, irrigation, instillation, insertion, placement, replacement, packing, intubation, catheterization, cannulation. 900000000000017005 +2921164012 20190731 0 900000000000207008 107733003 en 900000000000550004 Introduction of object AND/OR substance into or onto body, including injection, implantation, infusion, perfusion, transfusion, irrigation, instillation, insertion, placement, replacement, packing, intubation, catheterization, cannulation. 900000000000017005 +2921165013 20120731 1 900000000000207008 12371008 en 900000000000550004 A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs 900000000000017005 +2921165013 20150131 0 900000000000207008 12371008 en 900000000000550004 A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs 900000000000017005 +2921166014 20120731 1 900000000000207008 86064000 en 900000000000550004 An autonomic plexus that is a subdivision of the aortic plexus, or derived from it, that accompanies the testicular artery. 900000000000017005 +2921167017 20120731 1 900000000000207008 399282006 en 900000000000550004 The time interval from the closure of the 1st Doppler spectral taken from the tricuspid valve to the opening of the 2nd Doppler spectral of the tricuspid valve. 900000000000017005 +2921168010 20120731 1 900000000000207008 8009008 en 900000000000550004 Intermittent incontinence of urine while sleeping, regardless of whether intermittent daytime urinary incontinence is also present or not. 900000000000017005 +2921169019 20120731 1 900000000000207008 24981001 en 900000000000550004 An autonomic plexus that branches from the inferior mesenteric plexus; accompanies superior rectal artery to rectum. 900000000000017005 +2921170018 20120731 1 900000000000207008 399104001 en 900000000000550004 The time interval from the closure of the 1st Doppler spectral taken from the mitral valve to the opening of the 2nd Doppler spectral of the mitral valve. 900000000000017005 +2950921010 20130131 1 900000000000207008 471296006 en 900000000000550004 An animal action to maintain or regulate access to an item of value. 900000000000017005 +2950921010 20140131 0 900000000000207008 471296006 en 900000000000550004 An animal action to maintain or regulate access to an item of value. 900000000000017005 +2955721015 20130131 1 900000000000207008 473011001 en 900000000000550004 The disposition to develop an allergic reaction, the allergic reaction itself or its consequences. 900000000000017005 +2955723017 20130131 1 900000000000207008 473010000 en 900000000000550004 The disposition to develop hypersensitivity or the manifestation of such a disposition. 900000000000017005 +2955723017 20130731 0 900000000000207008 473010000 en 900000000000550004 The disposition to develop hypersensitivity or the manifestation of such a disposition. 900000000000017005 +2956189015 20130131 1 900000000000207008 473085002 en 900000000000550004 Undertaking cruise travel in the sufficiently recent past to be relevant to a current health issue. 900000000000017005 +2956685010 20130131 1 900000000000207008 17771000119103 en 900000000000550004 Myelomeningocele that occurs in the region L4 to L5. 900000000000017005 +2956686011 20130131 1 900000000000207008 17761000119109 en 900000000000550004 Myelomeningocele that occurs in the region L1 to L3. 900000000000017005 +2956950013 20130131 1 900000000000207008 288451000119108 en 900000000000550004 The subject attempts to persuade or coerce their child in ways that are not suitable or proper in the circumstances. 900000000000017005 +2957074017 20130131 1 900000000000207008 473447008 en 900000000000550004 Attempting to persuade or coerce one's child in ways that are not suitable or proper in the circumstances. 900000000000017005 +2959479013 20130731 1 900000000000207008 123471000119103 en 900000000000550004 Fever within the usual recovery period with the possibility that it is etiologically linked to the vaccination and may indicate a complication. 900000000000017005 +2959480011 20130731 1 900000000000207008 130091000119103 en 900000000000550004 Fever within the usual recovery period with the possibility that it is etiologically linked to the procedure and may indicate a complication. 900000000000017005 +2959481010 20130731 1 900000000000207008 609328004 en 900000000000550004 The disposition to develop an allergic reaction. 900000000000017005 +2959481010 20190131 0 900000000000207008 609328004 en 900000000000550004 The disposition to develop an allergic reaction. 900000000000017005 +2959484019 20130731 1 900000000000207008 609327009 en 900000000000550004 A process characterized by a humoral or cell-mediated immune response to a foreign antigen resulting in the production of specific antibodies and/or immune cells which may then lead to an allergic disposition. 900000000000017005 +2959484019 20150731 0 900000000000207008 609327009 en 900000000000550004 A process characterized by a humoral or cell-mediated immune response to a foreign antigen resulting in the production of specific antibodies and/or immune cells which may then lead to an allergic disposition. 900000000000017005 +2959842019 20130731 1 900000000000207008 609373006 en 900000000000550004 Good rapport with the dentist, interest in the dental procedures, laughter and enjoyment. 900000000000017005 +2959843012 20130731 1 900000000000207008 609371008 en 900000000000550004 Reluctance to accept treatment, uncooperative, some evidence of negative attitude but not pronounced (sullen, withdrawn). 900000000000017005 +2959844018 20130731 1 900000000000207008 191788006 en 900000000000550004 Behavioral characteristics of a boy which are considered typical of the gender role of a female. 900000000000017005 +2959845017 20130731 1 900000000000207008 609372001 en 900000000000550004 Acceptance of treatment; cautious behavior at times; willingness to comply with the dentist, at times with reservation, but patient follows the dentist’s directions cooperatively. 900000000000017005 +2959845017 20210131 0 900000000000207008 609372001 en 900000000000550004 Acceptance of treatment; cautious behavior at times; willingness to comply with the dentist, at times with reservation, but patient follows the dentist’s directions cooperatively. 900000000000017005 +2959846016 20130731 1 900000000000207008 191789003 en 900000000000550004 Behavioral characteristics of a girl which are considered typical of the gender role of a male. 900000000000017005 +2959847013 20130731 1 900000000000207008 609370009 en 900000000000550004 Refusal of treatment, forceful crying, fearfulness, or any other overt evidence of extreme negativism. 900000000000017005 +2965707015 20130731 1 900000000000207008 609404002 en 900000000000550004 A type of non-immune hypersensitivity process that represents the underlying mechanism of pseudoallergic conditions 900000000000017005 +2965707015 20140131 0 900000000000207008 609404002 en 900000000000550004 A type of non-immune hypersensitivity process that represents the underlying mechanism of pseudoallergic conditions 900000000000017005 +2967318018 20130731 1 900000000000207008 609517002 en 900000000000550004 Abnormal proliferation of trophoblasts during pregnancy, of a type which is invasive or metastatic. 900000000000017005 +2967319014 20130731 1 900000000000207008 609519004 en 900000000000550004 Disorder characterized by abnormal proliferation of trophoblasts during pregnancy, of a type which is invasive or metastatic. 900000000000017005 +2967401016 20130731 1 900000000000207008 40275004 en 900000000000550004 A polymorphic pattern of inflammatory reaction of the skin in response to contact with external irritants or allergens. 900000000000017005 +2967403018 20130731 1 900000000000207008 434601000124108 en 900000000000550004 Administration of steroid for advancing lung maturation in fetuses with a risk of premature birth. 900000000000017005 +2967790012 20130731 1 900000000000207008 232350006 en 900000000000550004 The disposition to develop an allergic reaction to a substance derived from dust mites e.g. Der p1, rather than the dust mite organism itself. 900000000000017005 +2967791011 20130731 1 900000000000207008 472963003 en 900000000000550004 An immune or non-immune mediated pathological process that represents the underlying mechanism of hypersensitivity conditions. 900000000000017005 +2967792016 20130731 1 900000000000207008 609433001 en 900000000000550004 The disposition to develop hypersensitivity. 900000000000017005 +2967792016 20140731 0 900000000000207008 609433001 en 900000000000550004 The disposition to develop hypersensitivity. 900000000000017005 +2967793014 20130731 1 900000000000207008 419238009 en 900000000000550004 An allergy to a substance derived from an adhesive bandage rather than the physical bandage itself. 900000000000017005 +2967794015 20130731 1 900000000000207008 421961002 en 900000000000550004 A pathological process initiated by exposure to a defined stimulus at a dose tolerated by normal persons. It may be the manifestation of a disposition to hypersensitivity. 900000000000017005 +2967795019 20130731 1 900000000000207008 609405001 en 900000000000550004 The disposition to develop a pseudoallergic reaction, the pseudoallergic reaction itself or its consequences. 900000000000017005 +2967796018 20130731 1 900000000000207008 609495006 en 900000000000550004 Complete tear of ankle ligament. 900000000000017005 +2967797010 20130731 1 900000000000207008 473010000 en 900000000000550004 The disposition to develop an allergic or pseudoallergic reaction, the reaction itself or its consequences. 900000000000017005 +2967798017 20130731 1 900000000000207008 29268000 en 900000000000550004 A hypersensitivity condition of skin or mucous membranes at the site of direct surface contact with irritants or allergens. A general class that includes both immunologic and non-immunologic conditions. 900000000000017005 +2967799013 20130731 1 900000000000207008 609526004 en 900000000000550004 Itching sensation referred to a site distant from the stimulation site. 900000000000017005 +2967800012 20130731 1 900000000000207008 1791000119105 en 900000000000550004 Microscopic tears of ankle ligament. 900000000000017005 +2967801011 20130731 1 900000000000207008 145611000119107 en 900000000000550004 Migraine triggered by an allergic inflammatory process. 900000000000017005 +2967802016 20130731 1 900000000000207008 402594000 en 900000000000550004 The disposition to develop an allergic reaction to a substance derived from a plant, rather than the plant itself. 900000000000017005 +2967803014 20130731 1 900000000000207008 609396006 en 900000000000550004 The disposition to develop a pseudoallergic reaction. 900000000000017005 +2967804015 20130731 1 900000000000207008 609406000 en 900000000000550004 A nonimmune hypersensitivity reaction directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the manifestation of the pseudoallergic state. 900000000000017005 +2967804015 20140131 0 900000000000207008 609406000 en 900000000000550004 A nonimmune hypersensitivity reaction directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the manifestation of the pseudoallergic state. 900000000000017005 +2967805019 20130731 1 900000000000207008 472965005 en 900000000000550004 A type of allergic process that results in an immune response to a foreign antigen. 900000000000017005 +2967806018 20130731 1 900000000000207008 472964009 en 900000000000550004 A type of immune mediated hypersensitivity process that represents the underlying mechanism of allergic conditions. 900000000000017005 +2967807010 20130731 1 900000000000207008 418176003 en 900000000000550004 An allergic reaction to an allergen substance derived from a non-food plant, rather than a reaction to the plant organism itself. 900000000000017005 +2967808017 20130731 1 900000000000207008 1781000119107 en 900000000000550004 Incomplete tear of ankle ligament. 900000000000017005 +2967889011 20130731 1 900000000000207008 444110003 en 900000000000550004 Type 2 diabetes mellitus in which the blood glucose levels over time are kept within a range such that tests that reflect long-term variation of blood glucose, such as HbA1c, do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 +2967890019 20130731 1 900000000000207008 290002008 en 900000000000550004 Type 1 diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. 900000000000017005 +2967921011 20130731 1 900000000000207008 609389009 en 900000000000550004 A structurally abnormal heart condition, without symptoms of heart failure, that confers a high risk of progression to symptomatic heart failure. 900000000000017005 +2967922016 20130731 1 900000000000207008 609585002 en 900000000000550004 A syndrome of emergence or increment of neuropsychiatric symptoms, such as confusion and behavioral disturbances, in the late afternoon, early evening or at night. 900000000000017005 +2967923014 20130731 1 900000000000207008 609388001 en 900000000000550004 A condition that confers a high risk of progression to actual heart failure but lacks actual structural or functional disorder of the heart. 900000000000017005 +2967929013 20130731 1 900000000000207008 9631000119102 en 900000000000550004 In response to carotid sinus baroreceptor stimulation, a ventricular pause lasting greater than 3 seconds and/or a fall in systolic BP of greater than 50 mmHg. 900000000000017005 +2968070010 20130731 1 900000000000207008 419474003 en 900000000000550004 Allergic disposition to the substance derived from the mold rather than the intact mold organism itself. 900000000000017005 +2968366011 20140131 1 900000000000207008 697931003 en 900000000000550004 A difference in the height of the marginal edges of adjacent teeth. 900000000000017005 +2968406012 20140131 1 900000000000207008 697988001 en 900000000000550004 Stool which assumes the shape of the container. 900000000000017005 +2969258013 20140131 1 900000000000207008 697964003 en 900000000000550004 A tear with a flap displaced to the vertical or horizontal direction. 900000000000017005 +2970084017 20140131 1 900000000000207008 225737007 en 900000000000550004 A place where the bodies of dead persons are kept temporarily pending identification or release for burial or autopsy. 900000000000017005 +2970810018 20140131 1 900000000000207008 233947005 en 900000000000550004 The persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries, leading to an increase in pulmonary vascular resistance and progressive right heart failure. 900000000000017005 +2972086014 20140131 1 900000000000207008 315058005 en 900000000000550004 Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. 900000000000017005 +2972873018 20140131 1 900000000000207008 698247007 en 900000000000550004 Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities 900000000000017005 +2972873018 20140731 0 900000000000207008 698247007 en 900000000000550004 Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities 900000000000017005 +2973601010 20140131 1 900000000000207008 62950007 en 900000000000550004 A disorder characterized by inflammation of both the brain and the spinal cord. 900000000000017005 +2973642013 20140131 1 900000000000207008 418818005 en 900000000000550004 Clinical manifestations of cardiac syncope, ventricular tachycardia, ventricular fibrillation, or sudden death in conjunction with a genetic mutation associated with Brugada Syndrome and/or a Brugada pattern ECG (spontaneous or provoked). 900000000000017005 +2973775010 20140131 1 900000000000207008 698275009 en 900000000000550004 Where a significant amount of gingival tissue can be seen as a person smiles. 900000000000017005 +2982402014 20140131 1 900000000000207008 237061004 en 900000000000550004 A condition occurring in women who have had a bilateral salpingo-oophorectomy, with or without hysterectomy, that leaves behind ovarian tissue. This residual ovarian tissue then results in pelvic symptoms such as pain or mass. 900000000000017005 +2982403016 20140131 1 900000000000207008 69911009 en 900000000000550004 An abnormality involving one or more ovaries, occurring in women who have had a hysterectomy without bilateral oophorectomy. 900000000000017005 +2983208019 20140131 1 900000000000207008 699220008 en 900000000000550004 A common taste disorder where there is a lingering, often unpleasant taste despite the absence of any stimulus to initiate the distorted taste. 900000000000017005 +2983210017 20140131 1 900000000000207008 699197006 en 900000000000550004 Characterized by upper and lower incisors that have emerged forward making the teeth and lips protrude. 900000000000017005 +2983211018 20140131 1 900000000000207008 699221007 en 900000000000550004 Slightly pigmented smooth or warty papules that are flesh colored and found on the upper surface of hands and feet. 900000000000017005 +2983212013 20140131 1 900000000000207008 699189004 en 900000000000550004 Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis. 900000000000017005 +2983743017 20140131 1 900000000000207008 699303006 en 900000000000550004 Making vocal utterances that are distressing sounding and socially inappropriate due to their intensity, frequency, duration and/or setting, as a manifestation of some form of brain disease, usually dementia. 900000000000017005 +2983977019 20140131 1 900000000000207008 85830006 en 900000000000550004 Restoring to the extent possible the natural anatomical structure of the heart valve. Does not include heart valve replacement. 900000000000017005 +2984428013 20140131 1 900000000000207008 143521000119103 en 900000000000550004 Bleeding into the tissue of the brain not due to a significant external force. Despite the word "cerebral" this includes all regions of brain tissue, not merely telencephalon. 900000000000017005 +2984428013 20210930 0 900000000000207008 143521000119103 en 900000000000550004 Bleeding into the tissue of the brain not due to a significant external force. Despite the word "cerebral" this includes all regions of brain tissue, not merely telencephalon. 900000000000017005 +2984883011 20140131 1 900000000000207008 699533003 en 900000000000550004 Any force that causes slippage between a pair of contiguous articulated parts in a direction that parallels the plane in which they contact 900000000000017005 +2985157012 20140131 1 900000000000207008 361348008 en 900000000000550004 Space of the compartment of the trunk, enclosed by the body wall, and containing serous sacs, viscera and other organs. 900000000000017005 +2985333015 20140131 1 900000000000207008 362605009 en 900000000000550004 Immaterial anatomical entity which has three spatial dimensions. 900000000000017005 +2985334014 20140131 1 900000000000207008 699591004 en 900000000000550004 Anatomical cluster which has as its parts one or more anatomical structures surrounding an anatomical compartment space, and the contents of that space. 900000000000017005 +2985335010 20140131 1 900000000000207008 698965000 en 900000000000550004 An anatomical space, group of spaces, or massless line or plane. 900000000000017005 +2985336011 20140131 1 900000000000207008 346802004 en 900000000000550004 The anatomical compartment of the trunk, enclosed by the body wall, and containing serous sacs, viscera, and other organs of the trunk. 900000000000017005 +2985337019 20140131 1 900000000000207008 699589007 en 900000000000550004 Anatomical structure which has as its parts a heterogeneous collection of organs, organ parts, cells, cell parts or body part subdivisions that are adjacent to, or continuous with one another; does not constitute a cell part, cell, tissue, organ, or body part subdivision. 900000000000017005 +2985919011 20140131 1 900000000000207008 699666008 en 900000000000550004 Flattest corneal meridian defined as the axis in degrees wherein power is least and radius of curvature is longest. 900000000000017005 +2985920017 20140131 1 900000000000207008 699288003 en 900000000000550004 An artificial connection from artery to vein that can sustain three consecutive two-needle cannulations with no infiltrations at the prescribed needle gauge and blood flow rate. 900000000000017005 +2985921018 20140131 1 900000000000207008 699807003 en 900000000000550004 Test for assessing the strength of the knee extensor muscles. 900000000000017005 +2985922013 20140131 1 900000000000207008 89461002 en 900000000000550004 Disease of the heart muscle associated with electrical or mechanical dysfunction, in which the heart is the sole or predominantly involved organ. 900000000000017005 +2985923015 20140131 1 900000000000207008 699670000 en 900000000000550004 Thickening or cording of lymphatic tissues following axillary node biopsy or dissection. 900000000000017005 +2985924014 20140131 1 900000000000207008 699664006 en 900000000000550004 Refractive power of the cornea at the flattest meridian defined as least power measured in diopters, and longest radius of curvature measured in mm. 900000000000017005 +2985925010 20140131 1 900000000000207008 699663000 en 900000000000550004 Steepest corneal meridian defined as the axis in degrees wherein power is greatest and radius of curvature is shortest. 900000000000017005 +2985926011 20140131 1 900000000000207008 699654002 en 900000000000550004 Present when both the upper and lower jaws are posterior to the normal limits of the face. 900000000000017005 +2985928012 20140131 1 900000000000207008 699424002 en 900000000000550004 Superficial chemical burn or reaction to the detergent or flavoring compounds associated with use of certain brands of toothpastes. 900000000000017005 +2985929016 20140131 1 900000000000207008 699662005 en 900000000000550004 Refractive power of the cornea at the steepest meridian defined as greatest power measured in diopters, and shortest radius of curvature measured in mm. 900000000000017005 +2985930014 20140131 1 900000000000207008 699677002 en 900000000000550004 Creation of a fluid wave to assess response to treatment. 900000000000017005 +2985931013 20140131 1 900000000000207008 699382004 en 900000000000550004 A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait. 900000000000017005 +2985933011 20140131 1 900000000000207008 699684005 en 900000000000550004 Presence of inflammation in the soft tissue surrounding a dental implant without signs of any loss of supporting bone 900000000000017005 +2985933011 20220630 0 900000000000207008 699684005 en 900000000000550004 Presence of inflammation in the soft tissue surrounding a dental implant without signs of any loss of supporting bone 900000000000017005 +2986148012 20140131 1 900000000000207008 699854004 en 900000000000550004 An establishment with facilities for the preparation of the dead for burial or cremation; for the viewing of the body and for funerals. 900000000000017005 +2986149016 20140131 1 900000000000207008 698271000 en 900000000000550004 A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events. 900000000000017005 +2986150016 20140131 1 900000000000207008 699828007 en 900000000000550004 Occurs where the relationship between the teeth of a normal jaw and a complete denture (or between two complete dentures) is not harmonious. 900000000000017005 +2986151017 20140131 1 900000000000207008 58372006 en 900000000000550004 Placement of implant material which extends from a pulpal space into bone beyond the end of the root. 900000000000017005 +2986291011 20140131 1 900000000000207008 128045006 en 900000000000550004 Inflammation located in and spreading along planes of connective tissue. In regions of the body covered by skin, it involves subcutaneous tissue and also the dermis. It may spread to deeper fascial layers and muscle. 900000000000017005 +2987064010 20140131 1 900000000000207008 698055008 en 900000000000550004 An inflammatory necrotizing lesion occurring in minor salivary glands. 900000000000017005 +2987065011 20140131 1 900000000000207008 32273002 en 900000000000550004 An autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia. 900000000000017005 +2987155015 20140131 1 900000000000207008 36813001 en 900000000000550004 A condition in which the placenta is located over or near the internal os of the cervix, increasing the risk of hemorrhage. 900000000000017005 +2987156019 20140131 1 900000000000207008 11763009 en 900000000000550004 Morbidly adherent placenta in which the chorionic villi invade into the myometrium. 900000000000017005 +2987157011 20140131 1 900000000000207008 271813007 en 900000000000550004 A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage. 900000000000017005 +2987158018 20140131 1 900000000000207008 22649008 en 900000000000550004 An abnormal inflammatory skin condition resulting from exposure to ultraviolet light, most commonly sunlight. May result from phototoxic or photoallergic reactions or both. 900000000000017005 +2987159014 20140131 1 900000000000207008 25585008 en 900000000000550004 Morbidly adherent placenta in which the chorionic villi invade through the myometrium. 900000000000017005 +2987160016 20140131 1 900000000000207008 70129008 en 900000000000550004 Morbidly adherent placenta in which the chorionic villi attach to the myometrium, rather than being restricted to the decidua basalis. 900000000000017005 +2987304015 20140131 1 900000000000207008 699964009 en 900000000000550004 Acquired crosswise defect in structural continuity of a longitudinal structure. 900000000000017005 +2987453016 20140131 1 900000000000207008 700007009 en 900000000000550004 The proximal segment of the lower limb which links the free lower limb to the trunk. 900000000000017005 +2987454010 20140131 1 900000000000207008 61594008 en 900000000000550004 The propagation of microorganisms or of living tissue cells in media conducive to their growth. 900000000000017005 +2987651013 20140131 1 900000000000207008 699877004 en 900000000000550004 The rat specific species of Pneumocystis. 900000000000017005 +2988746011 20140131 1 900000000000207008 79909001 en 900000000000550004 The human specific species of Pneumocystis. 900000000000017005 +2988747019 20140131 1 900000000000207008 699274002 en 900000000000550004 Increased distance between the maxillary anterior teeth and the mandibular anterior teeth in the anterior-posterior axis. 900000000000017005 +2988749016 20140131 1 900000000000207008 60476005 en 900000000000550004 Increased superior-inferior overlap of the maxillary central incisors over the mandibular central incisors relative to the incisal ridges. 900000000000017005 +2988750016 20140131 1 900000000000207008 698008003 en 900000000000550004 Enlargement of the parotid gland due to air insufflation. 900000000000017005 +2988807015 20140131 1 900000000000207008 609406000 en 900000000000550004 A non-immune hypersensitivity reaction directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the manifestation of the pseudoallergic state. 900000000000017005 +2988807015 20140731 0 900000000000207008 609406000 en 900000000000550004 A non-immune hypersensitivity reaction directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the manifestation of the pseudoallergic state. 900000000000017005 +2988808013 20140131 1 900000000000207008 699528002 en 900000000000550004 Rapidly developing osteoporosis characterized primarily by bone marrow edema of a self-limiting nature. 900000000000017005 +2988809017 20140131 1 900000000000207008 699536006 en 900000000000550004 Injury to a joint due to an extension beyond the normal range of motion 900000000000017005 +2988811014 20140131 1 900000000000207008 699418008 en 900000000000550004 Incisor that has marked lateral borders occurring lingually. 900000000000017005 +2988812019 20140131 1 900000000000207008 609404002 en 900000000000550004 A type of non-immune hypersensitivity process that represents the underlying mechanism of pseudoallergic conditions. 900000000000017005 +2988813012 20140131 1 900000000000207008 699532008 en 900000000000550004 A fracture of the articular surface of a bone, produced by a force transmitted from the articular surface of a contiguous bone across the joint and through the articular cartilage to the subchondral trabeculae of the fractured bone. The cartilage itself is not necessarily torn. 900000000000017005 +2988814018 20140131 1 900000000000207008 699381006 en 900000000000550004 An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment. 900000000000017005 +2988815017 20140131 1 900000000000207008 699535005 en 900000000000550004 Injury to a joint due to flexion of a joint beyond its normal range of movement. 900000000000017005 +2988816016 20140131 1 900000000000207008 699530000 en 900000000000550004 Mixture of fat and blood in a joint cavity following trauma. 900000000000017005 +2988954017 20140131 1 900000000000207008 699683004 en 900000000000550004 Caries in which the lesion has removed so much of the crown that its original site of initiation cannot be determined with any certainty. 900000000000017005 +2988955016 20140131 1 900000000000207008 699190008 en 900000000000550004 An autosomal dominant disorder due to a sodium channelopathy and characterized by skin flushing and severe pain. Attacks can start in infancy where the pain is typically concentrated in the lower part of the body, with progression of age the location of pain may change to affect the head and face. 900000000000017005 +2988956015 20140131 1 900000000000207008 699811009 en 900000000000550004 Test for suspected osteochondritis dissecans. 900000000000017005 +2988957012 20140131 1 900000000000207008 698270004 en 900000000000550004 A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. 900000000000017005 +2988958019 20140131 1 900000000000207008 431193003 en 900000000000550004 The presence of live pathogens in the blood causing significant clinical consequences such as fever, chills, or hypotension. 900000000000017005 +2988959010 20140131 1 900000000000207008 446033002 en 900000000000550004 Tool used in the collection of specimen e.g. bronchoscopy. 900000000000017005 +2988960017 20140131 1 900000000000207008 700050004 en 900000000000550004 Severe life-threatening illness resulting from infection, usually meningitis or sepsis, in an individual lacking a spleen, whether congenital asplenia or post-splenectomy. 900000000000017005 +2989562013 20140731 1 900000000000207008 3961000119101 en 900000000000550004 Head circumference is less than two standard deviations above the mean, but appears disproportionately large when other factors such as stature are considered. 900000000000017005 +2989691019 20140731 1 900000000000207008 700237005 en 900000000000550004 Occurs where a missing tooth or delayed replacement of lost teeth leads to extrusion of the opposing teeth into the edentulous space. 900000000000017005 +2989692014 20140731 1 900000000000207008 700211007 en 900000000000550004 An extremely rare inherited disorder characterized by malformations of the ulnar ray, hypoplasia and dysfunction of the axillary apocrine and mammary glands, endocrine dysfunction, dental anomalies, and occasional visceral malformations. 900000000000017005 +2989693016 20140731 1 900000000000207008 700242002 en 900000000000550004 Characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. May also be associated with polycystic ovaries in some women. 900000000000017005 +2989694010 20140731 1 900000000000207008 700226009 en 900000000000550004 Sexual grooming is the deliberate befriending and establishing of an emotional connection with a victim in order to sexually abuse. 900000000000017005 +2989768014 20140731 1 900000000000207008 441774005 en 900000000000550004 Time when personnel begin setting up in the operating or procedure room the supplies and equipment for the next case. 900000000000017005 +2989769018 20140731 1 900000000000207008 442126001 en 900000000000550004 Time at which the nursing or surgical team begins positioning or prepping the patient for the procedure. 900000000000017005 +2989770017 20140731 1 900000000000207008 442272006 en 900000000000550004 Time when all preparations required prior to transport to operating or procedure facility have been completed. 900000000000017005 +2989771018 20140731 1 900000000000207008 85461000119106 en 900000000000550004 An ulcerated nodule of cornea or conjunctiva. 900000000000017005 +2989772013 20140731 1 900000000000207008 441765008 en 900000000000550004 Time when the anesthesia care provider begins the administration of agents intended to provide the level of anesthesia required for the scheduled procedure. 900000000000017005 +2989774014 20140731 1 900000000000207008 441969007 en 900000000000550004 Time at which patient leaves operating or procedure room. 900000000000017005 +2989775010 20140731 1 900000000000207008 442385007 en 900000000000550004 Time when patient enters the operating or procedure room. 900000000000017005 +2989776011 20140731 1 900000000000207008 441927008 en 900000000000550004 Time at which the patient was brought into the anesthetic room. 900000000000017005 +2989777019 20140731 1 900000000000207008 442431006 en 900000000000550004 Time patient is transported out of the post anesthesia care unit. 900000000000017005 +2989778012 20140731 1 900000000000207008 442534000 en 900000000000550004 Time the patient arrives in the pre-procedure area of the operating room or procedure room. 900000000000017005 +2989779016 20140731 1 900000000000207008 442415003 en 900000000000550004 Time of arrival in anesthetizing location of anesthesia care provider of record. 900000000000017005 +2989780018 20140731 1 900000000000207008 442335003 en 900000000000550004 Time at which patient has a sufficient level of anesthesia established to begin surgical preparation of the patient, and remaining anesthetic chores do not preclude positioning and prepping. 900000000000017005 +2989781019 20140731 1 900000000000207008 442463000 en 900000000000550004 Time that patient is assessed to be ready for discharge from the post anesthesia care unit. 900000000000017005 +2989782014 20140731 1 900000000000207008 441869008 en 900000000000550004 Time operating room is clean and ready for setup of supplies and equipment for the next case. 900000000000017005 +2989783016 20140731 1 900000000000207008 442336002 en 900000000000550004 Time at which prepping and draping have been completed and the patient is ready for the procedure or surgery to start. 900000000000017005 +2989784010 20140731 1 900000000000207008 442371002 en 900000000000550004 Time the procedure is begun. 900000000000017005 +2989785011 20140731 1 900000000000207008 442273001 en 900000000000550004 Time when operating or procedure room is cleaned and supplied and equipment necessary for beginning of next case are present. 900000000000017005 +2989786012 20140731 1 900000000000207008 442370001 en 900000000000550004 Time when transporting service is notified to deliver the patient to the operating or procedure room. 900000000000017005 +2989787015 20140731 1 900000000000207008 442275008 en 900000000000550004 The time at which the patient was transferred into the recovery area. 900000000000017005 +2989788013 20140731 1 900000000000207008 441968004 en 900000000000550004 Time patient arrives at health care facility. 900000000000017005 +2989789017 20140731 1 900000000000207008 442137000 en 900000000000550004 Time when all instrument and sponge counts are completed and verified as correct, all post procedure radiological studies to be done in procedure room are completed, all dressings and drains are secured, and the physician or surgeons have completed all procedure related activities on the patient. 900000000000017005 +2990282018 20140731 1 900000000000207008 67681000119109 en 900000000000550004 A severe form of astigmatism. 900000000000017005 +2990283011 20140731 1 900000000000207008 8611000119100 en 900000000000550004 Nonsyndromic premature fusion of multiple sutures. 900000000000017005 +2990284017 20140731 1 900000000000207008 255581000119100 en 900000000000550004 Nonsyndromic premature fusion of a single suture. 900000000000017005 +2990285016 20140731 1 900000000000207008 700364009 en 900000000000550004 Neurodevelopmental disorder is a behavioural and cognitive disorder with onset during the developmental period that involve impaired or aberrant development of intellectual, motor, or social functions. 900000000000017005 +2990285016 20200131 0 900000000000207008 700364009 en 900000000000550004 Neurodevelopmental disorder is a behavioural and cognitive disorder with onset during the developmental period that involve impaired or aberrant development of intellectual, motor, or social functions. 900000000000017005 +2990286015 20140731 1 900000000000207008 700364009 en 900000000000550004 Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involve impaired or aberrant development of intellectual, motor, or social functions. 900000000000017005 +2990286015 20200131 0 900000000000207008 700364009 en 900000000000550004 Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involve impaired or aberrant development of intellectual, motor, or social functions. 900000000000017005 +2990451015 20140731 1 900000000000207008 700399008 en 900000000000550004 Morphological alterations to squamous cells that fall short of low-grade dyskaryosis but that cannot be identified with certainty as the consequence of inflammatory, reactive, metaplastic, or hormonal processes. 900000000000017005 +2990472017 20140731 1 900000000000207008 700400001 en 900000000000550004 Crowded cells with pseudostratification but little nuclear abnormality, or coarsely clumped chromatin with entirely normal architecture. 900000000000017005 +2990555010 20140731 1 900000000000207008 307001000119105 en 900000000000550004 A tooth whose root canal system has been filled in three dimensions and where a surplus of material extrudes beyond the foramina. 900000000000017005 +2990556011 20140731 1 900000000000207008 296041000119103 en 900000000000550004 Enlargement of femoral head as a result of insult to the femoral head or epiphysis in childhood. 900000000000017005 +2990786019 20140731 1 900000000000207008 252005008 en 900000000000550004 A condition characterized by the herniation of the bladder into the vagina due to tearing of the tough fibrous wall between a woman's bladder and her vagina (the pubovesical fascia). 900000000000017005 +2990786019 20190131 0 900000000000207008 252005008 en 900000000000550004 A condition characterized by the herniation of the bladder into the vagina due to tearing of the tough fibrous wall between a woman's bladder and her vagina (the pubovesical fascia). 900000000000017005 +2990788018 20140731 1 900000000000207008 700486009 en 900000000000550004 A persons ability to walk between locations in a room. 900000000000017005 +2990788018 20150131 0 900000000000207008 700486009 en 900000000000550004 A persons ability to walk between locations in a room. 900000000000017005 +2990793015 20140731 1 900000000000207008 700487000 en 900000000000550004 A persons ability to walk in corridor on unit. 900000000000017005 +2990793015 20150131 0 900000000000207008 700487000 en 900000000000550004 A persons ability to walk in corridor on unit. 900000000000017005 +2990794014 20140731 1 900000000000207008 700467001 en 900000000000550004 Syndrome is characterized by severe headaches, with or without other acute neurological symptoms, and diffuse segmental constriction of cerebral arteries that resolves spontaneously within 3 months. 900000000000017005 +2990796011 20140731 1 900000000000207008 698247007 en 900000000000550004 A disorder in which there is abnormal electrical activity in the heart. 900000000000017005 +2990798012 20140731 1 900000000000207008 700473000 en 900000000000550004 Type of medicinal pill made of thick liquid that has been solidified and is meant to be consumed by light chewing and allowing it to dissolve in the mouth. 900000000000017005 +2990800017 20140731 1 900000000000207008 44808001 en 900000000000550004 Any abnormal alteration of atrioventricular conduction. 900000000000017005 +2990803015 20140731 1 900000000000207008 700489002 en 900000000000550004 Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15. 900000000000017005 +2990846017 20140731 1 900000000000207008 193114000 en 900000000000550004 Persistent postural and motor experiences of the limb after physical loss. 900000000000017005 +2990847014 20140731 1 900000000000207008 193116003 en 900000000000550004 Awareness of external senses of the limb after physical loss. 900000000000017005 +2990848016 20140731 1 900000000000207008 700507000 en 900000000000550004 Awareness of an illusory extra limb in addition to the real regular limbs. 900000000000017005 +2995945017 20140731 1 900000000000207008 278512001 en 900000000000550004 A subtype of non-spastic cerebral palsy with loss of muscular coordination with abnormal force and rhythm, and impairment of accuracy; commonly presents with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus and other abnormal eye movements, and hypotonia. Low tone is a prominent feature. 900000000000017005 +2995946016 20140731 1 900000000000207008 123581000119101 en 900000000000550004 Asymmetry between native breast and reconstructed breast. 900000000000017005 +2995947013 20140731 1 900000000000207008 107411000119108 en 900000000000550004 Abnormality of the vulva and/or vagina caused by harmful procedures to the female genitalia for non-medical purposes, for example: pricking, piercing, incising, scraping, cauterization. 900000000000017005 +2995947013 20200131 0 900000000000207008 107411000119108 en 900000000000550004 Abnormality of the vulva and/or vagina caused by harmful procedures to the female genitalia for non-medical purposes, for example: pricking, piercing, incising, scraping, cauterization. 900000000000017005 +2995948015 20140731 1 900000000000207008 130611000119103 en 900000000000550004 Narrowing of the vaginal orifice with a covering seal, occurring as a result of cutting and appositioning the labia minora and/or the labia majora, with or without excision of the clitoris for non medical reasons. 900000000000017005 +2995948015 20200131 0 900000000000207008 130611000119103 en 900000000000550004 Narrowing of the vaginal orifice with a covering seal, occurring as a result of cutting and appositioning the labia minora and/or the labia majora, with or without excision of the clitoris for non medical reasons. 900000000000017005 +2995955018 20140731 1 900000000000207008 130631000119108 en 900000000000550004 Abnormality of vulva caused by partial or total removal of the clitoris and/or the prepuce for non medical reasons. 900000000000017005 +2995955018 20200131 0 900000000000207008 130631000119108 en 900000000000550004 Abnormality of vulva caused by partial or total removal of the clitoris and/or the prepuce for non medical reasons. 900000000000017005 +2995956017 20140731 1 900000000000207008 48721008 en 900000000000550004 A form of spastic cerebral palsy affecting all four limbs; the term bilateral hemiplegia may also be used when one side has a significantly different tone compared with the other. 900000000000017005 +2995957014 20140731 1 900000000000207008 95041000119101 en 900000000000550004 Caused by all procedures involving partial or total removal of the external female genitalia or other injury to the female genital organs for non-medical reasons. 900000000000017005 +2995959012 20140731 1 900000000000207008 702320006 en 900000000000550004 A form of spastic cerebral palsy affecting three limbs; this could be both arms and a leg, or both legs and an arm. In some instances, it has referred to one upper and one lower extremity and the face. 900000000000017005 +2995960019 20140731 1 900000000000207008 702446006 en 900000000000550004 Form of acute myeloid leukemia having a shortage of all types of mature blood cells with onset in childhood or young adulthood. 900000000000017005 +2995962010 20140731 1 900000000000207008 307011000119108 en 900000000000550004 A tooth whose root canal system has been inadequately obturated in any dimension, leaving large reservoirs for recontamination. 900000000000017005 +2995966013 20140731 1 900000000000207008 192958009 en 900000000000550004 A form of non-spastic cerebral palsy with decreased muscle tone; noticeably "floppy" muscles with poor or no head control 900000000000017005 +2995966013 20210930 0 900000000000207008 192958009 en 900000000000550004 A form of non-spastic cerebral palsy with decreased muscle tone; noticeably "floppy" muscles with poor or no head control 900000000000017005 +2995968014 20140731 1 900000000000207008 702313004 en 900000000000550004 A genetic syndrome characterized by the absence of all four limbs. 900000000000017005 +2995969018 20140731 1 900000000000207008 702323008 en 900000000000550004 Abrupt onset of dystonia with parkinsonism over a period of hours to days. 900000000000017005 +2995970017 20140731 1 900000000000207008 130621000119105 en 900000000000550004 Abnormality of vulva caused by partial or total removal of the clitoris and the labia minora, with or without excision of the labia majora for non medical reasons. 900000000000017005 +2995970017 20200131 0 900000000000207008 130621000119105 en 900000000000550004 Abnormality of vulva caused by partial or total removal of the clitoris and the labia minora, with or without excision of the labia majora for non medical reasons. 900000000000017005 +2995972013 20140731 1 900000000000207008 702364003 en 900000000000550004 An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. 900000000000017005 +2995975010 20140731 1 900000000000207008 702318008 en 900000000000550004 A form of cerebral palsy where no predominant motion can be determined; when it is a mixed CP form, i.e. spasticity with ataxia and/or dyskinesia, the child should be classified according to the dominant clinical feature 900000000000017005 +2995976011 20140731 1 900000000000207008 56409008 en 900000000000550004 A form of spastic cerebral palsy affecting only one limb 900000000000017005 +3004396013 20140731 1 900000000000207008 472328003 en 900000000000550004 Impaction of ulnar head against the triangular fibrocartilage complex and ulnar carpus resulting in progressive degeneration of those structures. 900000000000017005 +3004527010 20140731 1 900000000000207008 254024005 en 900000000000550004 Distortion of the infantile cranium secondary to the application of prenatal and postnatal external forces. 900000000000017005 +3004528017 20140731 1 900000000000207008 127701000119109 en 900000000000550004 Condition where the ulna projects more distally relative to the radius. 900000000000017005 +3004819014 20140731 1 900000000000207008 72781000119105 en 900000000000550004 A painful restriction of joint motion due to post-traumatic excessive scarring. 900000000000017005 +3004820015 20140731 1 900000000000207008 314621000119104 en 900000000000550004 Lack of posterior tooth contact in any occluding position of the anterior teeth. 900000000000017005 +3004821016 20140731 1 900000000000207008 314611000119106 en 900000000000550004 Lack of anterior tooth contact in any occluding position of the anterior teeth. 900000000000017005 +3005197017 20140731 1 900000000000207008 112581000119104 en 900000000000550004 Arthralgia of knee less than three months. 900000000000017005 +3005198010 20140731 1 900000000000207008 12011000119105 en 900000000000550004 Condition where foot exhibits an arch when non-weight bearing but shows collapse of the arch in stance. 900000000000017005 +3005199019 20140731 1 900000000000207008 51881000119109 en 900000000000550004 Ankle pain lasting longer than three to six months. 900000000000017005 +3005200016 20140731 1 900000000000207008 25201000119104 en 900000000000550004 Condition with either the sacralization of the lowest lumbar segment or the lumbarization of the most superior sacral segment of the spine. 900000000000017005 +3005201017 20140731 1 900000000000207008 702600000 en 900000000000550004 Continuous involuntary contraction of the masticatory muscle. 900000000000017005 +3005431013 20140731 1 900000000000207008 702632000 en 900000000000550004 An injury to the brain which is not hereditary, congenital, or degenerative. 900000000000017005 +3005487017 20140731 1 900000000000207008 702642003 en 900000000000550004 A process characterized by an initial immune response to a foreign tissue antigen of the same species resulting in the production of specific immunologic memory cells, antibodies and immune effector cells which may lead to cellular destruction or transplant rejection. 900000000000017005 +3005488010 20140731 1 900000000000207008 702641005 en 900000000000550004 A process characterized by an initial immune response to a foreign or self antigen resulting in the production of specific immunologic memory cells, antibodies and immune effector cells. 900000000000017005 +3005888018 20140731 1 900000000000207008 702561005 en 900000000000550004 Fracture caused by normal stress upon weakened bone. 900000000000017005 +3006129019 20140731 1 900000000000207008 702788003 en 900000000000550004 Forced expiratory volume in one second (FEV1)/forced vital capacity (FVC) ratio is less than lower limits of normal (LLN), but FEV1 is more than its LLN. 900000000000017005 +3006183016 20140731 1 900000000000207008 442415003 en 900000000000550004 Time of arrival in anaesthetising location of anaesthesia care provider of record. 900000000000017005 +3006184010 20140731 1 900000000000207008 441868000 en 900000000000550004 Time housekeeping or room personnel begin clean up of the operating or procedure room. 900000000000017005 +3006185011 20140731 1 900000000000207008 442335003 en 900000000000550004 Time at which patient has a sufficient level of anaesthesia established to begin surgical preparation of the patient, and remaining anaesthetic chores do not preclude positioning and prepping. 900000000000017005 +3006186012 20140731 1 900000000000207008 702809001 en 900000000000550004 A drug hypersensitivity reaction with a relatively long latency period after exposure characterized by rash,fever, lymphadenopathy, hematologic abnormalities including eosinophilia and atypical lymphocytosis and internal organ involvement. Clinical presentation is highly variable. Eosinophilia is present in 50-90% of cases. 900000000000017005 +3006186012 20150131 0 900000000000207008 702809001 en 900000000000550004 A drug hypersensitivity reaction with a relatively long latency period after exposure characterized by rash,fever, lymphadenopathy, hematologic abnormalities including eosinophilia and atypical lymphocytosis and internal organ involvement. Clinical presentation is highly variable. Eosinophilia is present in 50-90% of cases. 900000000000017005 +3006187015 20140731 1 900000000000207008 442463000 en 900000000000550004 Time that patient is assessed to be ready for discharge from the post anaesthesia care unit. 900000000000017005 +3006188013 20140731 1 900000000000207008 441927008 en 900000000000550004 Time at which the patient was brought into the anaesthetic room. 900000000000017005 +3006189017 20140731 1 900000000000207008 441765008 en 900000000000550004 Time when the anaesthesia care provider begins the administration of agents intended to provide the level of anaesthesia required for the scheduled procedure. 900000000000017005 +3006274015 20140731 1 900000000000207008 702829000 en 900000000000550004 A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations 900000000000017005 +3006275019 20140731 1 900000000000207008 702817009 en 900000000000550004 Average of two or more properly measured readings at each of two or more visits after an initial screen with a systolic 120 to 139 mmHg or diastolic 80 to 89 mmHg. 900000000000017005 +3006690010 20140731 1 900000000000207008 702976005 en 900000000000550004 Inflammation of the temporomandibular joint in the area located posterior to the articular disc. 900000000000017005 +3006691014 20140731 1 900000000000207008 702969000 en 900000000000550004 The reactivation of latent hepatitis C infection usually caused by a medicinal agent, such as an immunosuppressant. 900000000000017005 +3006824010 20140731 1 900000000000207008 703039001 en 900000000000550004 Desired ultimate achievement of the health care activities in a care plan. 900000000000017005 +3007005019 20140731 1 900000000000207008 702949005 en 900000000000550004 Proopiomelanocortin deficiency causes severe obesity beginning at an early age. Affected individuals also have low levels of adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin. 900000000000017005 +3007169012 20140731 1 900000000000207008 51741000119105 en 900000000000550004 Ankle pain lasting less than three months. 900000000000017005 +3007329018 20140731 1 900000000000207008 703132007 en 900000000000550004 An ectopic tooth that has erupted on the lingual aspect of the maxilla or mandible. 900000000000017005 +3008053018 20140731 1 900000000000207008 703166003 en 900000000000550004 Formed by an abnormal connection between arteries within the dura mater and veins that normally drain the brain. 900000000000017005 +3008054012 20140731 1 900000000000207008 703218000 en 900000000000550004 Characterized by severe headaches, with or without other acute neurological symptoms and diffuse segmental constriction of cerebral arteries. 900000000000017005 +3008056014 20140731 1 900000000000207008 703218000 en 900000000000550004 Characterised by severe headaches, with or without other acute neurological symptoms and diffuse segmental constriction of cerebral arteries. 900000000000017005 +3008057017 20140731 1 900000000000207008 703162001 en 900000000000550004 Slow escape rhythm associated with hemodynamic collapse. 900000000000017005 +3008058010 20140731 1 900000000000207008 703196008 en 900000000000550004 This is a postprocedural valvular heart disease which results in the narrowing of the orifice of the tricuspid valve of the heart. It is a relatively rare condition that causes stenosis- increased resistance to blood flow through the valve. 900000000000017005 +3008059019 20140731 1 900000000000207008 703234002 en 900000000000550004 A familial condition where too much aldosterone is produced by the adrenal glands which can lead to lowered levels of potassium in the blood. 900000000000017005 +3008060012 20140731 1 900000000000207008 703220002 en 900000000000550004 A rare fatal amyloid disease in young people caused by a mutation in cystatin C. This condition predisposes towards intracerebral haemorrhage and dementia and is inherited in a dominant pattern. 900000000000017005 +3008061011 20140731 1 900000000000207008 703178004 en 900000000000550004 This is a non-rheumatic heart valve disorder in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve, with regurgitation. 900000000000017005 +3008062016 20140731 1 900000000000207008 703156006 en 900000000000550004 Acute neurological dysfunction caused by hemorrhage localized to the subcortex, basal ganglia, and the diencephalon. 900000000000017005 +3008063014 20140731 1 900000000000207008 703194006 en 900000000000550004 This refers to the postprocedural failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat some blood passes from the right ventricle to the right atrium, the opposite of the normal direction. 900000000000017005 +3008064015 20140731 1 900000000000207008 703217005 en 900000000000550004 Bleeding into the area between the arachnoid membrane and the pia mater surrounding the brain. Only intrasulcal bleeding within the hemispheric convexities, it does not result from aneurysm or trauma. 900000000000017005 +3008065019 20140731 1 900000000000207008 703156006 en 900000000000550004 Acute neurological dysfunction caused by haemorrhage localised to the subcortex, basal ganglia, and the diencephalon. 900000000000017005 +3008066018 20140731 1 900000000000207008 703182002 en 900000000000550004 Typically thunderclap headache recurring over 1-2 weeks, often triggered by sexual activity, exertion, Valsalva maneuvers and/or emotion. Headache can remain the sole symptom of reversible cerebral vasoconstriction syndrome. 900000000000017005 +3008067010 20140731 1 900000000000207008 703220002 en 900000000000550004 A rare fatal amyloid disease in young people caused by a mutation in cystatin C. This condition predisposes towards intracerebral hemorrhage and dementia and is inherited in a dominant pattern. 900000000000017005 +3008068017 20140731 1 900000000000207008 703233008 en 900000000000550004 A genetic cause of hypertension secondary to primary aldosteronism that is not suppressed with dexamethasone. Patients present with an adrenal adenoma that secretes aldosterone. 900000000000017005 +3008069013 20140731 1 900000000000207008 703232003 en 900000000000550004 A rare inherited disorder due to the ectopic expression of the aldosterone synthase in the fascicular zone of the adrenal gland and marked with early severe hypertension (often occurring before the age of 20), biological signs of primary aldosteronism of variable intensity, and an abnormal elevated level of 18-oxo- and 18-hydroxycortisol. 900000000000017005 +3008070014 20140731 1 900000000000207008 703186004 en 900000000000550004 This is a neopulmonary heart valve disorder in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve. 900000000000017005 +3008070014 20150131 0 900000000000207008 703186004 en 900000000000550004 This is a neopulmonary heart valve disorder in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve. 900000000000017005 +3008071013 20140731 1 900000000000207008 703192005 en 900000000000550004 This is a postprocedural heart valve disorder in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve. 900000000000017005 +3008072018 20140731 1 900000000000207008 703185000 en 900000000000550004 This is a neopulmonary condition where the pulmonary valve is not strong enough to prevent backflow to the right ventricle. 900000000000017005 +3008072018 20150131 0 900000000000207008 703185000 en 900000000000550004 This is a neopulmonary condition where the pulmonary valve is not strong enough to prevent backflow to the right ventricle. 900000000000017005 +3008073011 20140731 1 900000000000207008 703195007 en 900000000000550004 This refers to neoaortic valve of the heart that causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. 900000000000017005 +3008073011 20150131 0 900000000000207008 703195007 en 900000000000550004 This refers to neoaortic valve of the heart that causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. 900000000000017005 +3008074017 20140731 1 900000000000207008 703162001 en 900000000000550004 Slow escape rhythm associated with haemodynamic collapse. 900000000000017005 +3008075016 20140731 1 900000000000207008 703215002 en 900000000000550004 Subarachnoid hemorrhage not due to rupture of aneurysm. 900000000000017005 +3008076015 20140731 1 900000000000207008 703215002 en 900000000000550004 Subarachnoid haemorrhage not due to rupture of aneurysm. 900000000000017005 +3008220019 20140731 1 900000000000207008 703256004 en 900000000000550004 A rare autosomal recessive disorder characterized by very early-onset and severe hypertension, low renin levels, low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. 900000000000017005 +3008221015 20140731 1 900000000000207008 703254001 en 900000000000550004 An autosomal dominant disease characterized by increased serum potassium levels, hypertension, short stature, increased urinary calcium excretion and hyperchloremic metabolic acidosis. 900000000000017005 +3008222010 20140731 1 900000000000207008 703264005 en 900000000000550004 Osteoporosis that results from medical conditions or treatments that interfere with the attainment of peak bone mass, contributing to the structural deterioration of bone tissue. 900000000000017005 +3008223017 20140731 1 900000000000207008 703256004 en 900000000000550004 A rare autosomal recessive disorder characterised by very early-onset and severe hypertension, low renin levels, low aldosterone, metabolic alkalosis, hypernatraemia, and hypokalaemia. 900000000000017005 +3008224011 20140731 1 900000000000207008 703254001 en 900000000000550004 An autosomal dominant disease characterised by increased serum potassium levels, hypertension, short stature, increased urinary calcium excretion and hyperchloraemic metabolic acidosis. 900000000000017005 +3008556015 20140731 1 900000000000207008 703392003 en 900000000000550004 Immature red blood cells (erythroid cells) in the bone marrow are abnormal in size, shape, organization, and/or number. 900000000000017005 +3008557012 20140731 1 900000000000207008 703401001 en 900000000000550004 Insufficient distance between the peri-implant mucosa margin and the bone crest. 900000000000017005 +3008558019 20140731 1 900000000000207008 703392003 en 900000000000550004 Immature red blood cells (erythroid cells) in the bone marrow are abnormal in size, shape, organisation, and/or number. 900000000000017005 +3008723018 20140731 1 900000000000207008 224571005 en 900000000000550004 Nurse Practitioners (NPs), are registered nurses with additional education and experience who are able to order and interpret diagnostic tests,communicate diagnoses,prescribe pharmaceuticals and perform specific procedures. 900000000000017005 +3008723018 20150131 0 900000000000207008 224571005 en 900000000000550004 Nurse Practitioners (NPs), are registered nurses with additional education and experience who are able to order and interpret diagnostic tests,communicate diagnoses,prescribe pharmaceuticals and perform specific procedures. 900000000000017005 +3008724012 20140731 1 900000000000207008 703069008 en 900000000000550004 Site where general primary health care services are provided by registered nurses with additional education and experience who are able to order and interpret diagnostic tests, communicate diagnoses, prescribe pharmaceuticals and perform specific procedures. 900000000000017005 +3008725013 20140731 1 900000000000207008 84261000119106 en 900000000000550004 Acute otitis media which persists after one or two empiric antimicrobial courses of treatment. 900000000000017005 +3008726014 20140731 1 900000000000207008 703476007 en 900000000000550004 Daytime study for patients having difficulty tolerating positive airway pressure therapy. 900000000000017005 +3008854011 20140731 1 900000000000207008 703503000 en 900000000000550004 Word or set of words by which a person is known, addressed, or referred to. 900000000000017005 +3008855012 20140731 1 900000000000207008 703500002 en 900000000000550004 Coma scale for the direct assessment of overall reaction level in patients with acute brain disorders. 900000000000017005 +3008857016 20140731 1 900000000000207008 408677003 en 900000000000550004 Personal name used with a family name to form a full name. 900000000000017005 +3009858018 20140731 1 900000000000207008 427167008 en 900000000000550004 Hereditary angioedema without abnormal C1 inhibitor levels or function. Found mostly in females in which symptoms may be triggered by pregnancy or estrogen-containing oral contraceptives. A few cases have been associated with gain of function mutations of coagulation factor XII 900000000000017005 +3009858018 20200731 0 900000000000207008 427167008 en 900000000000550004 Hereditary angioedema without abnormal C1 inhibitor levels or function. Found mostly in females in which symptoms may be triggered by pregnancy or estrogen-containing oral contraceptives. A few cases have been associated with gain of function mutations of coagulation factor XII 900000000000017005 +3009860016 20140731 1 900000000000207008 703802001 en 900000000000550004 Acquired angio-oedema due to the presence of neutralising antibodies against C1 inhibitor. 900000000000017005 +3009861017 20140731 1 900000000000207008 241955009 en 900000000000550004 Acquired form of angioedema due to deficiency of C1 inhibitor 900000000000017005 +3009861017 20220430 0 900000000000207008 241955009 en 900000000000550004 Acquired form of angioedema due to deficiency of C1 inhibitor 900000000000017005 +3009862012 20140731 1 900000000000207008 284821007 en 900000000000550004 The ability to kneel in a bath and perform activities of bathing. 900000000000017005 +3009863019 20140731 1 900000000000207008 703698008 en 900000000000550004 Essure is a non-surgical procedure that accesses the fallopian tubes through the vagina and cervix and using a small catheter, a small barrier, shaped like a tiny spring, is inserted into the fallopian tubes 900000000000017005 +3009863019 20160131 0 900000000000207008 703698008 en 900000000000550004 Essure is a non-surgical procedure that accesses the fallopian tubes through the vagina and cervix and using a small catheter, a small barrier, shaped like a tiny spring, is inserted into the fallopian tubes 900000000000017005 +3009864013 20140731 1 900000000000207008 703629008 en 900000000000550004 A reactive fibrous lesion of adductor magnus and aponeurotic origin of the medial head of gastrocnemius of the distal femur. 900000000000017005 +3009865014 20140731 1 900000000000207008 284808000 en 900000000000550004 The ability to sit in a bath and perform activities of bathing. 900000000000017005 +3009867018 20140731 1 900000000000207008 703627005 en 900000000000550004 CPPD crystals are demonstrated in tissues or synovial fluid by definite means (for example, chemical analysis) or by compensated polarised light microscopy and typical calcifications are seen on radiographs. 900000000000017005 +3009869015 20140731 1 900000000000207008 703802001 en 900000000000550004 Acquired angioedema due to the presence of neutralizing antibodies against C1 inhibitor. 900000000000017005 +3009873017 20140731 1 900000000000207008 284815008 en 900000000000550004 The ability to stand in a bath and perform activities of bathing. 900000000000017005 +3009874011 20140731 1 900000000000207008 703764006 en 900000000000550004 Near the time of peak substance concentration after administration of a substance. 900000000000017005 +3009875012 20140731 1 900000000000207008 703765007 en 900000000000550004 Near the time of trough substance concentration after administration of a substance. 900000000000017005 +3009876013 20140731 1 900000000000207008 82966003 en 900000000000550004 Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms leading to increased levels of bradykinin 900000000000017005 +3009876013 20200731 0 900000000000207008 82966003 en 900000000000550004 Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms leading to increased levels of bradykinin 900000000000017005 +3009881016 20140731 1 900000000000207008 703216001 en 900000000000550004 Bleeding into the area between the arachnoid membrane and the pia mater, limited to the subarachnoid spaces around the midbrain. 900000000000017005 +3010066013 20140731 1 900000000000207008 419076005 en 900000000000550004 A pathological immune process generally directed towards a foreign antigen, which results in tissue injury, which is usually transient. It is the realization of the allergic disposition. It is most often applied to type I hypersensitivity but other hypersensitivity types especially type IV (e.g. allergic contact dermatitis) may be involved. 900000000000017005 +3010067016 20140731 1 900000000000207008 703841004 en 900000000000550004 Class of chemicals that are analogs or derivatives of 1-phenylpropan-2-amine, including synthetic and naturally occurring amphetamines. 900000000000017005 +3010068014 20140731 1 900000000000207008 703619001 en 900000000000550004 Pelvic girdle pain is experienced between the posterior iliac crest and the gluteal fold, in particular in the sacroiliac joint. The pain may radiate to the posterior thigh. The condition is generally related to pregnancy, trauma, arthritis and osteoarthritis. 900000000000017005 +3010069018 20140731 1 900000000000207008 609406000 en 900000000000550004 A pathological nonimmune process generally directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the realization of the pseudoallergic disposition. A variety of mechanisms such as direct histamine release, complement activation, cyclooxygenase activation and bradykinin generation may be involved. 900000000000017005 +3010070017 20140731 1 900000000000207008 609433001 en 900000000000550004 The disposition to develop an allergic or pseudoallergic reaction. 900000000000017005 +3010070017 20190131 0 900000000000207008 609433001 en 900000000000550004 The disposition to develop an allergic or pseudoallergic reaction. 900000000000017005 +3010071018 20140731 1 900000000000207008 703842006 en 900000000000550004 Chemical racemic free base or equal parts of enantiomers levoamphetamine and dextroamphetatmine in their pure amine or salt forms. 900000000000017005 +3010071018 20150131 0 900000000000207008 703842006 en 900000000000550004 Chemical racemic free base or equal parts of enantiomers levoamphetamine and dextroamphetatmine in their pure amine or salt forms. 900000000000017005 +3010081019 20140731 1 900000000000207008 397678008 en 900000000000550004 Family name of person. 900000000000017005 +3010082014 20140731 1 900000000000207008 703529000 en 900000000000550004 Characterization of the nature of an abnormality based on appearance, form, and structure, which may include any or all of macroscopic, cellular, and microscopic appearance, form and structure. 900000000000017005 +3010083016 20140731 1 900000000000207008 702772003 en 900000000000550004 Idiopathic environmental intolerance (IEI) formerly called multiple chemical sensitivity, is a subjective illness marked by recurrent, nonspecific symptoms attributed to low levels of chemical, biologic or physical agents. 900000000000017005 +3010125011 20140731 1 900000000000207008 702316007 en 900000000000550004 A form of dyskinetic cerebral palsy with irregular movements that are not repetitive or rhythmic, and tend to be more jerky and shaky. 900000000000017005 +3010126012 20140731 1 900000000000207008 702321005 en 900000000000550004 A form of spastic cerebral palsy affecting all four limbs with neck and head paralysis, often accompanied by eating and breathing complications. 900000000000017005 +3010127015 20140731 1 900000000000207008 75019001 en 900000000000550004 A form of dyskinetic cerebral palsy with slow, writhing movements that are often repetitive, sinuous, and rhythmic. 900000000000017005 +3010128013 20140731 1 900000000000207008 371079004 en 900000000000550004 A form of spastic cerebral palsy affecting the lower half of the body, including both legs. 900000000000017005 +3010129017 20140731 1 900000000000207008 702314005 en 900000000000550004 A less common type of cerebral palsy defined by decreased and/or fluctuating muscle tone; multiple forms of non-spastic cerebral palsy are each characterized by particular impairments; one of the main characteristics of non-spastic cerebral palsy is involuntary movement. Subtypes include ataxic and dyskinetic forms. 900000000000017005 +3010131014 20140731 1 900000000000207008 230780007 en 900000000000550004 A subtype of non-spastic cerebral palsy with involuntary, uncontrolled recurring, and occasionally stereotyped movements with a varying muscle tone; primitive reflex patterns predominate. 900000000000017005 +3010132019 20140731 1 900000000000207008 128188000 en 900000000000550004 A permanent disorder of the development of movement, posture and motor function, causing activity limitation, caused by non-progressive disturbances in the developing fetal or infant brain. 900000000000017005 +3010133012 20140731 1 900000000000207008 230773005 en 900000000000550004 A type of cerebral palsy defined by increased tone and pathological reflexes resulting in an abnormal pattern of movement and posture. 900000000000017005 +3010134018 20140731 1 900000000000207008 58193001 en 900000000000550004 A form of spastic cerebral palsy affecting two limbs; usually the legs are affected more than the arms. 900000000000017005 +3010135017 20140731 1 900000000000207008 43486001 en 900000000000550004 A form of spastic cerebral palsy affecting the arm and/or leg on one side of the body. An ipsilateral upper and/or lower extremity is affected. 900000000000017005 +3010136016 20140731 1 900000000000207008 16171003 en 900000000000550004 A form of athetoid cerebral palsy with bilateral involuntary movements. 900000000000017005 +3010137013 20140731 1 900000000000207008 702317003 en 900000000000550004 A form of dyskinetic cerebral palsy with a combination of chorea and athetosis; movements are irregular, but twisting and curving. 900000000000017005 +3010138015 20140731 1 900000000000207008 702315006 en 900000000000550004 A form of dyskinetic cerebral palsy with involuntary movements accompanied by an abnormal, sustained posture. 900000000000017005 +3010214011 20140731 1 900000000000207008 700502006 en 900000000000550004 Internationally recognized Choice and Partnership Approach (CAPA) choice appointment for CAMHS - recording checkpoints of the process. 900000000000017005 +3010215012 20140731 1 900000000000207008 702625009 en 900000000000550004 Resection of 5 to 10 grams of myocardium from the proximal ventricular septum. 900000000000017005 +3010216013 20140731 1 900000000000207008 700502006 en 900000000000550004 Internationally recognised Choice and Partnership Approach (CAPA) choice appointment for CAMHS - recording checkpoints of the process. 900000000000017005 +3010217016 20140731 1 900000000000207008 702575003 en 900000000000550004 An arteriopathy characterized by visual loss, progressive or episodic deafness, and abnormal fundoscopy. 900000000000017005 +3010218014 20140731 1 900000000000207008 702319000 en 900000000000550004 A form of spastic cerebral palsy affecting both sides of the body; the Surveillance of Cerebral Palsy in Europe (SCPE) does not recommend the use of diplegia/quadriplegia terms, and recommends using instead the term bilateral spastic cerebral palsy and subtypes. 900000000000017005 +3010219018 20140731 1 900000000000207008 702575003 en 900000000000550004 An arteriopathy characterised by visual loss, progressive or episodic deafness, and abnormal fundoscopy. 900000000000017005 +3010220012 20140731 1 900000000000207008 703749006 en 900000000000550004 The Infant Behavioral Assessment and Intervention Program (IBAIP) is an education and training program for health care and community early intervention professionals to support these specialists, as well as parents. 900000000000017005 +3010221011 20140731 1 900000000000207008 703801008 en 900000000000550004 Acquired angioedema due to activation of the classical complement pathway related to an underlying lymphoreticular disorder particularly lymphoma or monoclonal gammopathy of unknown significance (MGUS) 900000000000017005 +3010222016 20140731 1 900000000000207008 703749006 en 900000000000550004 The Infant Behavioural Assessment and Intervention Programme (IBAIP) is an education and training programme for health care and community early intervention professionals to support these specialists, as well as parents. 900000000000017005 +3012492018 20150131 1 900000000000207008 704243004 en 900000000000550004 Full animal head, decapitated and removed from body. 900000000000017005 +3012493011 20150131 1 900000000000207008 703884003 en 900000000000550004 A biofield therapy that relies upon a belief in an invisible energy that may be transmitted from healer to patient through intention. 900000000000017005 +3012494017 20150131 1 900000000000207008 308698004 en 900000000000550004 Subjective experience of excessive gas which is passed as flatus. 900000000000017005 +3012495016 20150131 1 900000000000207008 264287008 en 900000000000550004 Material shed by animals that is comprised of some combination of dead skin, dried salivary proteins, hair, sebum, urine and microorganisms. 900000000000017005 +3012496015 20150131 1 900000000000207008 703955006 en 900000000000550004 A way for prescriptions for medical practitioners to be ordered by phone call to pharmacy 900000000000017005 +3012497012 20150131 1 900000000000207008 392481002 en 900000000000550004 A rare disorder of the eye in which the endothelium lining the interior of the cornea proliferates causing unusually high pressure in the eye, distortion of the iris and corneal oedema. 900000000000017005 +3012498019 20150131 1 900000000000207008 703985001 en 900000000000550004 A first aid technique to unblock the airway in cases of choking. when abdominal thrusts would be dangerous (such as in infants) or impossible (such as in pregnant women). In a chest thrust, the first-aider places a fist in the other hand, and, pressing against the victim’s lower breastbone, thrusts the chest wall inwards up to five times. The pressure simulates the coughing reflex and may expel the obstruction. 900000000000017005 +3012498019 20210131 0 900000000000207008 703985001 en 900000000000550004 A first aid technique to unblock the airway in cases of choking. when abdominal thrusts would be dangerous (such as in infants) or impossible (such as in pregnant women). In a chest thrust, the first-aider places a fist in the other hand, and, pressing against the victim’s lower breastbone, thrusts the chest wall inwards up to five times. The pressure simulates the coughing reflex and may expel the obstruction. 900000000000017005 +3012499010 20150131 1 900000000000207008 704190008 en 900000000000550004 A rare solid tumor like condition seen in young women, characterized by an accumulation of fluid within the ovarian stroma separating normal follicular structures. 900000000000017005 +3012500018 20150131 1 900000000000207008 704076007 en 900000000000550004 Physical stance often assumed by people experiencing respiratory distress or who are simply out of breath. In this position, a person sits or stands leaning forward and supports the upper body with hands on knees or other surface. 900000000000017005 +3012501019 20150131 1 900000000000207008 392481002 en 900000000000550004 A rare disorder of the eye in which the endothelium lining the interior of the cornea proliferates causing unusually high pressure in the eye, distortion of the iris and corneal edema. 900000000000017005 +3012502014 20150131 1 900000000000207008 704190008 en 900000000000550004 A rare solid tumour like condition seen in young women, characterised by an accumulation of fluid within the ovarian stroma separating normal follicular structures. 900000000000017005 +3012969010 20150131 1 900000000000012004 704325000 en 900000000000550004 This attribute is used to specify the denominator of a relational property type, such as a ratio or proportion. 900000000000017005 +3012970011 20150131 1 900000000000012004 246501002 en 900000000000550004 This attribute is used to specify the systematic method of a procedure used to accomplish a specific activity. 900000000000017005 +3012971010 20150131 1 900000000000207008 704366000 en 900000000000550004 Disclosing information about oneself that is seen as a violation of social norms. 900000000000017005 +3012973013 20150131 1 900000000000012004 704318007 en 900000000000550004 This attribute is used to specify the type of inherent quality or process that is to be observed. Its values are abstract types of quality (length, odor, concentration) or abstract types of process features (rate, speed), and do not include qualities that are located (length of arm, odor of urine), or given a value (elevated concentration). 900000000000017005 +3012974019 20150131 1 900000000000012004 704347000 en 900000000000550004 This attribute specifies the direct object of an observation procedure. 900000000000017005 +3012976017 20150131 1 900000000000012004 704346009 en 900000000000550004 This attribute specifies the observation procedure that defines an observable entity. 900000000000017005 +3012977014 20150131 1 900000000000012004 704322002 en 900000000000550004 This attribute is used to specify the continuant (such as a body structure or organism) that is causally active in the process on which the property depends. 900000000000017005 +3012978016 20150131 1 900000000000012004 704324001 en 900000000000550004 This attribute specifies the substance produced by the process characterized by the observable property type. 900000000000017005 +3012978016 20160131 0 900000000000012004 704324001 en 900000000000550004 This attribute specifies the substance produced by the process characterized by the observable property type. 900000000000017005 +3012979012 20150131 1 900000000000012004 704323007 en 900000000000550004 This attribute specifies the duration of the process characterized by the observable property type. 900000000000017005 +3012980010 20150131 1 900000000000012004 246514001 en 900000000000550004 This attribute represents the units used in assigning a value to an observation. 900000000000017005 +3012981014 20150131 1 900000000000012004 704326004 en 900000000000550004 This attribute is used to specify body state, timing, challenges, and other situations that must be true of the entity to be observed. 900000000000017005 +3012982019 20150131 1 900000000000012004 704321009 en 900000000000550004 This attribute specifies the process which the property describes, and on which the property (of this observable) depends. The process can be very general. 900000000000017005 +3012983012 20150131 1 900000000000012004 370132008 en 900000000000550004 This attribute refers to the scale of the result of an observation or a diagnostic test. 900000000000017005 +3012985017 20150131 1 900000000000012004 704327008 en 900000000000550004 This attribute represents the specific entity on which the observation is directly made, and is used when the observation is indirect, such as when a direct observation is not possible to be done on the entity in which the observable inheres. 900000000000017005 +3013031012 20150131 1 900000000000207008 704368004 en 900000000000550004 A purposeful and often repeated attempt to leave a healthcare setting. 900000000000017005 +3013032017 20150131 1 900000000000207008 704369007 en 900000000000550004 Mental and physical fatigue from prolonged or difficult treatment. 900000000000017005 +3013243016 20150131 1 900000000000207008 12371008 en 900000000000550004 A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs. 900000000000017005 +3013657014 20150131 1 900000000000207008 704491001 en 900000000000550004 Traditional therapy is often called complementary or alternative therapy. It is the knowledge, skills and practices based on the theories, beliefs, and experiences indigenous to different cultures used in the maintenance of health and prevention, diagnosis, improvement or treatment of physical and mental illness. 900000000000017005 +3014179012 20150131 1 900000000000207008 704682009 en 900000000000550004 At risk of injury when moving location. 900000000000017005 +3014183012 20150131 1 900000000000207008 704676006 en 900000000000550004 Nurse controlled analgesia is a technique by which the nurse or health professional licensed to administer medications, gives the patient a pre-programmed amount of an intravenous or subcutaneous analgesic solution as a bolus dose by the press of a button. 900000000000017005 +3014184018 20150131 1 900000000000207008 704674009 en 900000000000550004 Failure to follow the predictable course of grieving to resolution. 900000000000017005 +3014185017 20150131 1 900000000000207008 704681002 en 900000000000550004 At risk of negative quality of life in terms of health and happiness, measured by a person's ability to enjoy normal life activities. 900000000000017005 +3015045015 20150131 1 900000000000207008 367522007 en 900000000000550004 Inflammation of skin adjacent to an infectious site by autoinoculation; appears as eczematous plaque with or without vesicles 900000000000017005 +3015046019 20150131 1 900000000000207008 704679004 en 900000000000550004 Knowledge of the process encompassing motivation, will and actions necessary to abandon behaviors that compromise health and to adopt behaviors that maintain and enhance health. 900000000000017005 +3015047011 20150131 1 900000000000207008 704679004 en 900000000000550004 Knowledge of the process encompassing motivation, will and actions necessary to abandon behaviours that compromise health and to adopt behaviours that maintain and enhance health. 900000000000017005 +3015091011 20150131 1 900000000000207008 44247006 en 900000000000550004 Fetus with birthweight of 1000-2499 grams AND/OR gestation of 28-37 weeks 900000000000017005 +3015092016 20150131 1 900000000000207008 44247006 en 900000000000550004 Foetus with birthweight of 1000-2499 grammes AND/OR gestation of 28-37 weeks 900000000000017005 +3015118019 20150131 1 900000000000207008 705000008 en 900000000000550004 Lack of ability to exercise restraint or control over feelings, emotions or reactions. 900000000000017005 +3015196016 20150131 1 900000000000207008 129561000119108 en 900000000000550004 Pre-renal acute kidney injury (AKI), also called acute renal failure, occurs when a sudden reduction in blood flow to the kidney (renal hypoperfusion) causes a loss of kidney function. In pre-renal acute kidney injury, there is nothing wrong with the kidney itself. 900000000000017005 +3015196016 20200731 0 900000000000207008 129561000119108 en 900000000000550004 Pre-renal acute kidney injury (AKI), also called acute renal failure, occurs when a sudden reduction in blood flow to the kidney (renal hypoperfusion) causes a loss of kidney function. In pre-renal acute kidney injury, there is nothing wrong with the kidney itself. 900000000000017005 +3015242011 20150131 1 900000000000207008 399363000 en 900000000000550004 Fetal death after 22 week gestation affecting management of mother 900000000000017005 +3015244012 20150131 1 900000000000207008 399363000 en 900000000000550004 Foetal death after 22 week gestation affecting management of mother 900000000000017005 +3015245013 20150131 1 900000000000207008 705016005 en 900000000000550004 A difficult or dangerous health situation that needs urgent attention. 900000000000017005 +3015294013 20150131 1 900000000000207008 705039004 en 900000000000550004 The caregiver's attitude conflicts with the patient and/or the treatment plan. 900000000000017005 +3015480010 20150131 1 900000000000207008 108051000119101 en 900000000000550004 Laterognathia is understood as a lateral crossbite of individual or all side teeth with mandibular dislocation of the lower jaw's centre. 900000000000017005 +3023072013 20150131 1 900000000000207008 427565006 en 900000000000550004 Fetal heart rate variability not detected during intrapartum fetal heart monitoring. 900000000000017005 +3023619013 20150131 1 900000000000207008 705172001 en 900000000000550004 Collection of urine specimen via cystostomy tube 900000000000017005 +3023620019 20150131 1 900000000000207008 705156009 en 900000000000550004 Collection of urine using a sterile single use catheter 900000000000017005 +3023620019 20210131 0 900000000000207008 705156009 en 900000000000550004 Collection of urine using a sterile single use catheter 900000000000017005 +3027265016 20150131 1 900000000000207008 706873003 en 900000000000550004 State of severe distress associated with events that threaten the intactness of the person, can be physical, mental, or emotional. 900000000000017005 +3027312013 20150131 1 900000000000207008 705013002 en 900000000000550004 ST segment elevation in leads I and/or aVL with ST segment elevation in leads II and/or III and/or aVF. 900000000000017005 +3027313015 20150131 1 900000000000207008 705012007 en 900000000000550004 ST segment elevation in precordial leads (V2-5) with ST segment elevation in leads II and/or III and/or aVF. 900000000000017005 +3027314014 20150131 1 900000000000207008 705007006 en 900000000000550004 ST segment elevation in leads II and/or III and/or aVF. 900000000000017005 +3027315010 20150131 1 900000000000207008 705006002 en 900000000000550004 ST segment elevation in lead I and/or precordial leads V5-8 and/or aVL. 900000000000017005 +3027632016 20150131 1 900000000000207008 706893006 en 900000000000550004 Intimate partner abuse is defined as physical, sexual or psychological harm perpetrated by a current or former partner. The abuse can occur among heterosexual or same-sex couples and does not require sexual intimacy. 900000000000017005 +3027633014 20150131 1 900000000000207008 399266005 en 900000000000550004 Index calculated as (MCO-ET(Left Ventricle OT))/ET(Left Ventricle OT), where MCO is MV Closure to Opening time and ET is Ejection Time. 900000000000017005 +3027635019 20150131 1 900000000000207008 399154007 en 900000000000550004 Index calculated as (TCO-ET(RVOT))/ET(RVOT), where TCO is TV Closure to Opening time and ET is Ejection Time. 900000000000017005 +3027636018 20150131 1 900000000000207008 706892001 en 900000000000550004 Intimate partner abuse is defined as physical, sexual or psychological harm perpetrated by a current or former partner. The abuse can occur among heterosexual or same-sex couples and does not require sexual intimacy. 900000000000017005 +3027636018 20150731 0 900000000000207008 706892001 en 900000000000550004 Intimate partner abuse is defined as physical, sexual or psychological harm perpetrated by a current or former partner. The abuse can occur among heterosexual or same-sex couples and does not require sexual intimacy. 900000000000017005 +3027849013 20150131 1 900000000000207008 706906006 en 900000000000550004 No progress has been made towards the targeted objective. 900000000000017005 +3027850013 20150131 1 900000000000207008 706905005 en 900000000000550004 The targeted objective cannot be achieved. 900000000000017005 +3027851012 20150131 1 900000000000207008 706908007 en 900000000000550004 There has been some digression away from the targeted objective. 900000000000017005 +3027959010 20150131 1 900000000000207008 706923002 en 900000000000550004 Continuous atrial fibrillation of greater than 12 months duration. 900000000000017005 +3027960017 20150131 1 900000000000207008 706886007 en 900000000000550004 Bone fracture not accompanied by a break in the skin. 900000000000017005 +3028069016 20150131 1 900000000000207008 706970001 en 900000000000550004 The absence of staining for estrogen receptor, progesterone receptor, and hormone epidermal growth factor receptor 2 (HER2/neu) 900000000000017005 +3028069016 20190731 0 900000000000207008 706970001 en 900000000000550004 The absence of staining for estrogen receptor, progesterone receptor, and hormone epidermal growth factor receptor 2 (HER2/neu) 900000000000017005 +3028153014 20150131 1 900000000000207008 235865005 en 900000000000550004 Acute hepatitis D infection in carrier person with chronic hepatitis B virus infection. 900000000000017005 +3028154015 20150131 1 900000000000207008 47382004 en 900000000000550004 Fungal infection of the skin. 900000000000017005 +3028154015 20210731 0 900000000000207008 47382004 en 900000000000550004 Fungal infection of the skin. 900000000000017005 +3028641011 20150131 1 900000000000207008 49864004 en 900000000000550004 A galloping sound on cardiac auscultation because of an abnormally audible third heart sound. 900000000000017005 +3028643014 20150131 1 900000000000207008 399064001 en 900000000000550004 A two dimensional cross section view made up of numerous brightness mode scan lines. 900000000000017005 +3028644015 20150131 1 900000000000207008 86588008 en 900000000000550004 Fascia enclosing the extraocular muscles. 900000000000017005 +3028645019 20150131 1 900000000000207008 444059002 en 900000000000550004 Hypercholesterolemia in which the blood cholesterol levels over time do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 +3028646018 20150131 1 900000000000207008 399287000 en 900000000000550004 Calculated as the (Diastolic Area – Systolic Area) / Diastolic Area. 900000000000017005 +3028647010 20150131 1 900000000000207008 95323007 en 900000000000550004 Hard non pitting edema and induration of the skin; a finding associated with Buschke’s disease. 900000000000017005 +3028647010 20210131 0 900000000000207008 95323007 en 900000000000550004 Hard non pitting edema and induration of the skin; a finding associated with Buschke’s disease. 900000000000017005 +3028648017 20150131 1 900000000000207008 64157005 en 900000000000550004 Autonomic plexi that are part of the celiac plexus that lies on the greater and lesser curvatures of the stomach. 900000000000017005 +3028649013 20150131 1 900000000000207008 7119001 en 900000000000550004 Disease of skin in someone with Lupus erythematosus, though not necessarily systemic or subacute. 900000000000017005 +3028650013 20150131 1 900000000000207008 399367004 en 900000000000550004 Area of an orifice as calculated by Orifice area = Peak Instantaneous Flow Rate / Maximal Velocity of the Regurgitant jet at the Jet Orifice. 900000000000017005 +3028651012 20150131 1 900000000000207008 4592006 en 900000000000550004 A galloping sound on cardiac auscultation because of an abnormally audible fourth heart sound. 900000000000017005 +3028652017 20150131 1 900000000000207008 703842006 en 900000000000550004 Chemical racemic free base or equal parts of enantiomers levoamphetamine and dextroamphetamine in their pure amine or salt forms. 900000000000017005 +3028653010 20150131 1 900000000000207008 702809001 en 900000000000550004 A drug hypersensitivity reaction with a relatively long latency period after exposure characterized by rash, fever, lymphadenopathy, hematologic abnormalities including eosinophilia and atypical lymphocytosis and internal organ involvement. Clinical presentation is highly variable. Eosinophilia is present in 50-90% of cases. 900000000000017005 +3028654016 20150131 1 900000000000207008 705008001 en 900000000000550004 ST segment elevation in precordial leads. 900000000000017005 +3028655015 20150131 1 900000000000207008 444059002 en 900000000000550004 Hypercholesterolaemia in which the blood cholesterol levels over time do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 +3028911012 20150131 1 900000000000207008 707144009 en 900000000000550004 The condition of a natural tooth as it relates to its position and strength to serve as an abutment for a fixed prosthesis. 900000000000017005 +3028913010 20150131 1 900000000000207008 707147002 en 900000000000550004 Congenital or functional absence of spleen 900000000000017005 +3029216015 20150131 1 900000000000207008 707193004 en 900000000000550004 A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that is well aligned, but has had previous restorations or other damage in 3 sextants of the tooth that reduce its potential strength. 900000000000017005 +3029217012 20150131 1 900000000000207008 707194005 en 900000000000550004 A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that is well aligned, but has had previous restorations or other damage in 1 or 2 sextants of the tooth that reduce its potential strength. 900000000000017005 +3029218019 20150131 1 900000000000207008 707195006 en 900000000000550004 A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that is well aligned, but has had previous restorations or other damage to 4 or more sextants of the tooth that reduce its potential strength. 900000000000017005 +3029219010 20150131 1 900000000000207008 707190001 en 900000000000550004 A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that is well aligned with no previous restorations or other damage that would compromise its strength. 900000000000017005 +3029220016 20150131 1 900000000000207008 707192009 en 900000000000550004 A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that may have had limited previous treatment or is not perfectly aligned. 900000000000017005 +3029631018 20150131 1 900000000000207008 707276009 en 900000000000550004 A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia. 900000000000017005 +3029632013 20150131 1 900000000000207008 707276009 en 900000000000550004 A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. 900000000000017005 +3029876016 20150131 1 900000000000207008 707301001 en 900000000000550004 Lupus erythematosus affecting oral mucosa. This may be associated with either cutaneous or systemic lupus erythematosus and presents most commonly as mucosal ulceration. 900000000000017005 +3029877013 20150131 1 900000000000207008 707318002 en 900000000000550004 A form of chronic oral candidosis involving multiple oral sites with angular cheilitis, retrocommissural leukoplakia, median rhomboid glossitis and palatal lesions. 900000000000017005 +3030133019 20150131 1 900000000000207008 707436001 en 900000000000550004 A small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage without any underlying systemic disease. 900000000000017005 +3030134013 20150131 1 900000000000207008 707436001 en 900000000000550004 A small vessel vasculitis restricted to the lungs that may induce diffuse alveolar haemorrhage without any underlying systemic disease. 900000000000017005 +3030500019 20150131 1 900000000000207008 224571005 en 900000000000550004 Nurse Practitioners (NPs), are registered nurses with additional education and experience who are able to order and interpret diagnostic tests, communicate diagnoses, prescribe pharmaceuticals and perform specific procedures. 900000000000017005 +3030933015 20150131 1 900000000000012004 704320005 en 900000000000550004 This attribute is used to specify the third element of a relational quality, the first two elements being the type of property and the entity in which the quality inheres. The type of property is typically a concentration, and the entity in which it inheres is typically a fluid such as plasma, serum or blood. The third element typically is the substance or molecule that is the thing being measured as a concentration. The concentration of sodium in blood would be "property type" concentration, "towards" sodium, "inheres in" blood. 900000000000017005 +3030934014 20150131 1 900000000000207008 707606004 en 900000000000550004 Gingival disease with an aetiology other than dental plaque, such as bacterial, viral, fungal or genetic origin, due to systemic conditions, trauma, foreign body reactions, or other causes. 900000000000017005 +3030935010 20150131 1 900000000000207008 707624002 en 900000000000550004 Excessive swallowing of saliva. 900000000000017005 +3030936011 20150131 1 900000000000207008 707607008 en 900000000000550004 Associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications and delay of tooth eruption. 900000000000017005 +3030937019 20150131 1 900000000000012004 704647008 en 900000000000550004 This attribute links an information entity to the non-information entity to which it refers, i.e. the thing it is about. 900000000000017005 +3030938012 20150131 1 900000000000012004 704319004 en 900000000000550004 This attribute specifies the independent continuant which bears the quality, and on which the dependent quality (of this observable) depends. 900000000000017005 +3030939016 20150131 1 900000000000207008 707607008 en 900000000000550004 Associates gingival fibromatosis with dental abnormalities including generalised thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications and delay of tooth eruption. 900000000000017005 +3030940019 20150131 1 900000000000207008 707606004 en 900000000000550004 Gingival disease with an etiology other than dental plaque, such as bacterial, viral, fungal or genetic origin, due to systemic conditions, trauma, foreign body reactions, or other causes. 900000000000017005 +3031412012 20150131 1 900000000000207008 315184001 en 900000000000550004 A procedure to ascertain the level of antigen in a specimen. 900000000000017005 +3032079017 20150131 1 900000000000207008 707851002 en 900000000000550004 Based on symptomatology, the patient does not require hospitalization 900000000000017005 +3032080019 20150131 1 900000000000207008 707851002 en 900000000000550004 Based on symptomatology, the patient does not require hospitalisation 900000000000017005 +3032081015 20150131 1 900000000000207008 707852009 en 900000000000550004 Based on symptomatology, the patient requires hospitalization 900000000000017005 +3032082010 20150131 1 900000000000207008 707852009 en 900000000000550004 Based on symptomatology, the patient requires hospitalisation 900000000000017005 +3032084011 20150131 1 900000000000207008 707854005 en 900000000000550004 Based on the CDC guidelines: Testing is indicated for patients with symptomatology and history of exposure to the Ebola virus 900000000000017005 +3032089018 20150131 1 900000000000207008 707860005 en 900000000000550004 A patient speculated to have Ebola virus disease (EVD) based on symptomatology and history of exposure to the Ebola virus 900000000000017005 +3032834017 20150131 1 900000000000207008 708037001 en 900000000000550004 Mild Asperger's syndrome present in an adult. 900000000000017005 +3032835016 20150131 1 900000000000207008 703195007 en 900000000000550004 A condition following an arterial switch operation to correct transposition of the great arteries, in which the old pulmonary root becomes the new aortic root and where the new aortic valve does not prevent backflow to the left ventricle. 900000000000017005 +3032836015 20150131 1 900000000000207008 707985000 en 900000000000550004 Suppression of the secretion of saliva. 900000000000017005 +3032837012 20150131 1 900000000000207008 703318003 en 900000000000550004 A condition following an arterial switch operation to correct transposition of the great arteries, in which the old pulmonary root becomes the new aortic root and where the new aortic valve is narrowed. 900000000000017005 +3032838019 20150131 1 900000000000207008 708016009 en 900000000000550004 High muscle attachment in the mouth resulting in abnormal pull on the gingiva leading to gingival recession and/or inflammation. 900000000000017005 +3032839010 20150131 1 900000000000207008 704659007 en 900000000000550004 Child at risk of being abused. 900000000000017005 +3032840012 20150131 1 900000000000207008 416280009 en 900000000000550004 A venous and lymphatic drainage technique applied through the lower extremities. 900000000000017005 +3032841011 20150131 1 900000000000207008 703185000 en 900000000000550004 A condition following an arterial switch operation to correct transposition of the great arteries, in which the old aortic root becomes the new pulmonary root and where the new pulmonary valve does not prevent backflow to the right ventricle. 900000000000017005 +3032842016 20150131 1 900000000000207008 707989006 en 900000000000550004 Inflammation of the gingivae and oral mucosa due to contact with irritants or allergens but without specification of which mechanism is involved. 900000000000017005 +3032843014 20150131 1 900000000000207008 708027006 en 900000000000550004 Structural abnormality of a valve in which the valve opening is narrowed and the valve fails to close properly. 900000000000017005 +3032844015 20150131 1 900000000000207008 703186004 en 900000000000550004 A condition following an arterial switch operation to correct transposition of the great arteries, in which the old aortic root becomes the new pulmonary root and where outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve. 900000000000017005 +3032845019 20150131 1 900000000000207008 708024004 en 900000000000550004 Structural abnormality in which a valve fails to close properly. This includes abnormalities of the valve leaflets as well as so-called functional insufficiency due to other abnormalities such as annular dilatation in the presence of morphologically normal leaflets. 900000000000017005 +3032846018 20150131 1 900000000000207008 704658004 en 900000000000550004 Child at risk of being neglected by others. 900000000000017005 +3033050019 20150131 1 900000000000207008 708080005 en 900000000000550004 Endocardium of region of the left atrium and/or left ventricle which is continuous with the leaflets of the mitral valve. 900000000000017005 +3034362019 20150131 1 900000000000207008 708127008 en 900000000000550004 An idiopathic glomerular disease characterized by massive accumulation of atypical type III collagen fibrils within the mesangial matrix and subendothelial space of glomeruli. 900000000000017005 +3034363012 20150131 1 900000000000207008 708252004 en 900000000000550004 Discharge from a virtual ward that uses the systems, staffing, and daily routine of a hospital ward to deliver preventive care to patients in their own home. 900000000000017005 +3034364018 20150131 1 900000000000207008 708474007 en 900000000000550004 Formation of an epidermal layer which lacks nuclei during normal keratinization. 900000000000017005 +3034365017 20150131 1 900000000000207008 708127008 en 900000000000550004 An idiopathic glomerular disease characterised by massive accumulation of atypical type III collagen fibrils within the mesangial matrix and subendothelial space of glomeruli. 900000000000017005 +3034732010 20150131 1 900000000000207008 123744001 en 900000000000550004 A cut or tear to an internal structure without a communication with the outside of the body. Note that this is does not refer to a laceration that has been repaired by a closure technique. 900000000000017005 +3034761011 20150131 1 900000000000207008 700487000 en 900000000000550004 A person's ability to walk in corridor on unit. 900000000000017005 +3034762016 20150131 1 900000000000207008 700486009 en 900000000000550004 A person's ability to walk between locations in a room. 900000000000017005 +3034821017 20150131 1 900000000000207008 705136008 en 900000000000550004 The association of the transverse plus posterior wall fracture combines a transverse acetabular fracture with one or more separate posterior wall fragments. The transverse component of this fracture could be transtectal, juxtatectal, or infratectal. 900000000000017005 +3034822012 20150131 1 900000000000207008 708484008 en 900000000000550004 Alteration to skin and/or mucous membrane epithelial integrity manifest by vesicular inflammation and superficial ulceration. These may be a result of disease that presents with cell and/or humoral immunity-mediated attack on epithelial-connective tissue targets. 900000000000017005 +3034866014 20150131 1 900000000000207008 704999008 en 900000000000550004 T wave inversion in leads v2-5. 900000000000017005 +3034867017 20150131 1 900000000000207008 704998000 en 900000000000550004 ST segment depression seen in multiple regions, including anterior, lateral and inferior. 900000000000017005 +3034868010 20150131 1 900000000000207008 704997005 en 900000000000550004 ST segment depression in leads II and/or III and/or aVF. 900000000000017005 +3034869019 20150131 1 900000000000207008 705011000 en 900000000000550004 ST segment depression in leads V3-5. 900000000000017005 +3034870018 20150131 1 900000000000207008 705009009 en 900000000000550004 ST segment depression in posteriorly placed precordial leads (V7-10). 900000000000017005 +3035160011 20150131 1 900000000000207008 705095008 en 900000000000550004 ST segment elevation in leads II and/or III and/or aVF with ST segment elevation in V3R and/or V4R. 900000000000017005 +3035161010 20150131 1 900000000000207008 706907002 en 900000000000550004 Partial progress has been made towards the targeted objective. 900000000000017005 +3035174016 20150131 1 900000000000207008 129721000119106 en 900000000000550004 On dialysis to treat acute renal failure. 900000000000017005 +3035221017 20150131 1 900000000000207008 109478007 en 900000000000550004 Amelogenesis imperfecta, intellectual disability, and epileptic seizures. 900000000000017005 +3035222012 20150131 1 900000000000207008 3761000119104 en 900000000000550004 Abnormally low testosterone production; possibly due to testicular dysfunction (primary hypogonadism) or hypothalamic-pituitary dysfunction (secondary hypogonadism) and may be congenital or acquired. 900000000000017005 +3035223019 20150131 1 900000000000207008 367821000119106 en 900000000000550004 Hypertension that develops following long-standing compression of renal parenchyma by sub-capsular renal collection, e.g. haematoma, seroma, urinoma. 900000000000017005 +3035224013 20150131 1 900000000000207008 140051000119109 en 900000000000550004 A benign proliferation of pigment cells of the oral mucosa producing brown or bluish dome-shaped or sessile mass, usually with a smooth surface. 900000000000017005 +3035225014 20150131 1 900000000000207008 707074004 en 900000000000550004 High molecular weight fragment of ACTH. 900000000000017005 +3035226010 20150131 1 900000000000207008 707859000 en 900000000000550004 A patient without symptomatology or history to suggest concern for EVD. 900000000000017005 +3035240011 20150131 1 900000000000207008 707858008 en 900000000000550004 Someone who has been determined to be at high risk for developing EVD. This may include criteria such as CDC: 1) Percutaneous or mucous membrane exposure to blood or body fluids of an EVD patient; 2) Direct skin contact with, or exposure to blood or body fluids of, an EVD patient without appropriate personal protective equipment (PPE); 3) Processing blood or body fluids of a person with Ebola while the person was symptomatic without appropriate PPE or standard biosafety precautions; 4) Direct contact with a dead body without appropriate PPE in a country where an EVD outbreak is occurring; 5) Having lived in the immediate household and provided direct care to a person with Ebola while the person was symptomatic. 900000000000017005 +3035240011 20210131 0 900000000000207008 707858008 en 900000000000550004 Someone who has been determined to be at high risk for developing EVD. This may include criteria such as CDC: 1) Percutaneous or mucous membrane exposure to blood or body fluids of an EVD patient; 2) Direct skin contact with, or exposure to blood or body fluids of, an EVD patient without appropriate personal protective equipment (PPE); 3) Processing blood or body fluids of a person with Ebola while the person was symptomatic without appropriate PPE or standard biosafety precautions; 4) Direct contact with a dead body without appropriate PPE in a country where an EVD outbreak is occurring; 5) Having lived in the immediate household and provided direct care to a person with Ebola while the person was symptomatic. 900000000000017005 +3035241010 20150131 1 900000000000207008 707853004 en 900000000000550004 Testing is not indicated for patients without symptomatology or history of exposure to the Ebola virus. 900000000000017005 +3035242015 20150131 1 900000000000207008 707856007 en 900000000000550004 Someone who has been determined to be at low risk for developing EVD. This may include criteria such as CDC: 1) Having been in a country with widespread Ebola virus transmission within the past 21 days and having had no known exposures; 2) Direct contact while using appropriate personal protective equipment (PPE) with a person with Ebola while the person was symptomatic; 3) Brief proximity with a person with Ebola while the person was symptomatic; 4) Traveled on an aircraft with a person with Ebola while the person was symptomatic. 900000000000017005 +3035242015 20210131 0 900000000000207008 707856007 en 900000000000550004 Someone who has been determined to be at low risk for developing EVD. This may include criteria such as CDC: 1) Having been in a country with widespread Ebola virus transmission within the past 21 days and having had no known exposures; 2) Direct contact while using appropriate personal protective equipment (PPE) with a person with Ebola while the person was symptomatic; 3) Brief proximity with a person with Ebola while the person was symptomatic; 4) Traveled on an aircraft with a person with Ebola while the person was symptomatic. 900000000000017005 +3035243013 20150131 1 900000000000207008 707855006 en 900000000000550004 A person with no known exposure to Ebola virus. This includes anyone who has been in a country in which an EVD outbreak occurred within the past 21 days and has had no high or low risk exposures to the Ebola virus. 900000000000017005 +3035651019 20150731 1 900000000000207008 708573003 en 900000000000550004 The surface is not intact with visible breakdown (hole) and extensive loss of mineral, extensive localized demineralization where there is observable localized breakdown or distinct cavity (hole). 900000000000017005 +3035652014 20150731 1 900000000000207008 708576006 en 900000000000550004 Dental caries involving a discrete area of tooth not including an existing restoration. 900000000000017005 +3035653016 20150731 1 900000000000207008 708574009 en 900000000000550004 The surface remains intact with visible change, loss of mineral, localized demineralization where there is no observable localized breakdown or distinct cavity (hole). 900000000000017005 +3035654010 20150731 1 900000000000207008 708579004 en 900000000000550004 The area in dentin between the inner one third the distance to the pulp and the pulp. 900000000000017005 +3035655011 20150731 1 900000000000207008 708575005 en 900000000000550004 Recurrent dental caries involving a discrete area of a tooth including an area adjacent to an existing restoration or sealant. 900000000000017005 +3035656012 20150731 1 900000000000207008 708583004 en 900000000000550004 The area from the outer dentin surface to half the distance to the pulp. 900000000000017005 +3035658013 20150731 1 900000000000207008 708578007 en 900000000000550004 Progressing carious lesion. 900000000000017005 +3035659017 20150731 1 900000000000207008 708586007 en 900000000000550004 Interface between the pulp and the dentin. 900000000000017005 +3035660010 20150731 1 900000000000207008 708577002 en 900000000000550004 Arrested carious lesion that is not advancing. 900000000000017005 +3035662019 20150731 1 900000000000207008 708581002 en 900000000000550004 The area from the outer dentin surface to one third the distance to the pulp of tooth. 900000000000017005 +3035663012 20150731 1 900000000000207008 708582009 en 900000000000550004 The area in dentin between half the distance to the pulp and the pulp. 900000000000017005 +3035664018 20150731 1 900000000000207008 708596003 en 900000000000550004 Loss of access hole filling material in screw-retained implants. 900000000000017005 +3035665017 20150731 1 900000000000207008 708580001 en 900000000000550004 The area in dentin between the outer one third the distance to the pulp and the inner one third the distance to the pulp. 900000000000017005 +3035667013 20150731 1 900000000000207008 708585006 en 900000000000550004 The area between the surface of the enamel to half the distance to the dentinoenamel junction. 900000000000017005 +3036606012 20150731 1 900000000000207008 708654005 en 900000000000550004 Condition where roots of adjacent teeth approximate each other resulting in minimal bone between teeth. 900000000000017005 +3036607015 20150731 1 900000000000207008 708638007 en 900000000000550004 Decreased or absent display of maxillary and/or the mandibular incisal edge at rest. 900000000000017005 +3036608013 20150731 1 900000000000207008 708668003 en 900000000000550004 Angle formed by the junction of the posterior and lower borders of the lower jaw is below average. 900000000000017005 +3036609017 20150731 1 900000000000207008 708672004 en 900000000000550004 Tooth specific inherited disorder of mineral metabolism caused by gene mutation, encoding tissue non-specific alkaline phosphatase (TNAP). 900000000000017005 +3036612019 20150731 1 900000000000207008 708675002 en 900000000000550004 Angle formed by the junction of the posterior and lower borders of the lower jaw. 900000000000017005 +3036613012 20150731 1 900000000000207008 708667008 en 900000000000550004 Angle formed by the junction of the posterior and lower borders of the lower jaw is above average. 900000000000017005 +3036614018 20150731 1 900000000000207008 708722008 en 900000000000550004 A water well and related storage equipment that form the basis of municipal water supply system, from where many households are drawing their water. 900000000000017005 +3036615017 20150731 1 900000000000207008 708637002 en 900000000000550004 Increased display of maxillary and/or mandibular incisal edge when the jaws are at rest. This translates to >1.91 mm for men and 3.40 mm in women for the maxilla; and >1.23 mm for men and 0.49 mm in women for the mandible. 900000000000017005 +3037894011 20150731 1 900000000000207008 708700001 en 900000000000550004 A water well and related storage equipment that form the basis for a private residence water supply. It may supply more than one building but is not operated under direction of a municipality. 900000000000017005 +3037895012 20150731 1 900000000000207008 709002005 en 900000000000550004 Small white or flesh-colored waxy papules ranging in size from 0.5 to 1.2 cm. 900000000000017005 +3037896013 20150731 1 900000000000207008 708673009 en 900000000000550004 Inability of the brain to properly identify an odors natural smell and instead transcribing it into an unpleasant aroma. 900000000000017005 +3037896013 20170131 0 900000000000207008 708673009 en 900000000000550004 Inability of the brain to properly identify an odors natural smell and instead transcribing it into an unpleasant aroma. 900000000000017005 +3037897016 20150731 1 900000000000207008 708673009 en 900000000000550004 Inability of the brain to properly identify an odours natural smell and instead transcribing it into an unpleasant aroma. 900000000000017005 +3037897016 20170131 0 900000000000207008 708673009 en 900000000000550004 Inability of the brain to properly identify an odours natural smell and instead transcribing it into an unpleasant aroma. 900000000000017005 +3037898014 20150731 1 900000000000207008 708980008 en 900000000000550004 The shape of ridge following loss of teeth; the residual ridge morphology is the most objective criteria for the maxilla on examination of the oral cavity since measurement of the residual bone height by radiography is not reliable. 900000000000017005 +3037900011 20150731 1 900000000000207008 708584005 en 900000000000550004 The area between half the distance to the dentinoenamel junction and the dentinoenamel junction. 900000000000017005 +3037901010 20150731 1 900000000000207008 103286000 en 900000000000550004 Dizziness experienced on lying down. 900000000000017005 +3037902015 20150731 1 900000000000207008 708671006 en 900000000000550004 Decreased display of the maxillary incisal during a posed smile. Normal display should involve the whole maxillary incisors and interdental gingiva. 900000000000017005 +3037904019 20150731 1 900000000000207008 22053006 en 900000000000550004 A male with two or more X chromosomes. 900000000000017005 +3038214016 20150731 1 900000000000207008 709079002 en 900000000000550004 A complex mixture consisting of allergenic proteins derived from natural sources. May be used for diagnosis or therapy. Extracts used for diagnosis have the same active ingredients as those used for therapy but may differ by concentration, diluent or other additives. 900000000000017005 +3038215015 20150731 1 900000000000207008 609327009 en 900000000000550004 A process characterised by an initial humoral or cell-mediated immune response to a foreign antigen resulting in the production of specific antibodies and/or immune cells which may then lead to an allergic disposition. 900000000000017005 +3038216019 20150731 1 900000000000207008 609327009 en 900000000000550004 A process characterized by an initial humoral or cell-mediated immune response to a foreign antigen resulting in the production of specific antibodies and/or immune cells which may then lead to an allergic disposition. 900000000000017005 +3038218018 20150731 1 900000000000207008 346313005 en 900000000000550004 A complex mixture consisting of allergenic proteins derived from natural sources used for allergy treatment by subcutaneous or oral/sublingual route. 900000000000017005 +3038219014 20150731 1 900000000000207008 411123000 en 900000000000550004 A complex mixture consisting of allergenic proteins derived from natural sources used for allergy diagnosis by skin or provocation testing 900000000000017005 +3038219014 20160131 0 900000000000207008 411123000 en 900000000000550004 A complex mixture consisting of allergenic proteins derived from natural sources used for allergy diagnosis by skin or provocation testing 900000000000017005 +3038220015 20150731 1 900000000000207008 708573003 en 900000000000550004 The surface is not intact with visible breakdown (hole) and extensive loss of mineral, extensive localised demineralisation where there is observable localised breakdown or distinct cavity (hole). 900000000000017005 +3038221016 20150731 1 900000000000207008 709073001 en 900000000000550004 A disorder characterized by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. 900000000000017005 +3038222011 20150731 1 900000000000207008 709064009 en 900000000000550004 Finding of shortened, hypertonic pelvic floor musculature 900000000000017005 +3038223018 20150731 1 900000000000207008 709073001 en 900000000000550004 A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. 900000000000017005 +3038224012 20150731 1 900000000000207008 708574009 en 900000000000550004 The surface remains intact with visible change, loss of mineral, localised demineralisation where there is no observable localised breakdown or distinct cavity (hole). 900000000000017005 +3038703015 20150731 1 900000000000207008 709109004 en 900000000000550004 Respiratory failure due to a high level of carbon dioxide in the blood. 900000000000017005 +3038768010 20150731 1 900000000000207008 233765002 en 900000000000550004 Respiratory failure due to a low level of oxygen in the blood without a high level of carbon dioxide. 900000000000017005 +3039238012 20150731 1 900000000000207008 709199006 en 900000000000550004 Pelvic rest is part of the treatment plan for conditions or procedures including preterm labor, early pregnancy emergencies, gynecologic disorders, pelvic inflammatory disease, miscarriage, gynecologic surgery, high-risk pregnancy, dilation and curettage. Pelvic rest requires abstinence from douching, intercourse, tampon use and heavy lifting. 900000000000017005 +3039239016 20150731 1 900000000000207008 709199006 en 900000000000550004 Pelvic rest is part of the treatment plan for conditions or procedures including preterm labour, early pregnancy emergencies, gynecologic disorders, pelvic inflammatory disease, miscarriage, gynecologic surgery, high-risk pregnancy, dilation and curettage. Pelvic rest requires abstinence from douching, intercourse, tampon use and heavy lifting. 900000000000017005 +3040355017 20150731 1 900000000000207008 709495007 en 900000000000550004 A horizontal streak found on the inner surface of the cheek at the level of the biting plane. It usually extends from the commissure to the posterior teeth and can extend to the inner lip mucosa and corners of the mouth. It is a common finding and most likely associated with pressure, frictional irritation, or sucking trauma from the facial surfaces of the teeth. 900000000000017005 +3040356016 20150731 1 900000000000207008 709461008 en 900000000000550004 A Z-shaped cut in the first metatarsal in order to separate the head of the plantar half of the shaft from the rest of the bone. This allows the head-shaft complex to be translated and rotated in order to achieve correction of the deformity while maintaining articular congruity. 900000000000017005 +3040649018 20150731 1 900000000000207008 709612002 en 900000000000550004 A tongue position where the tongue is pulled back in the mouth altering the shape of the sublingual space. 900000000000017005 +3040983010 20150731 1 900000000000207008 709667001 en 900000000000550004 Chemical, biochemical and/or electrochemical actions causing the degradation of the hard tissue of the tooth. 900000000000017005 +3042465016 20150731 1 900000000000207008 709850005 en 900000000000550004 Any posterior maxillary or mandibular span that is greater than 3 missing teeth or 2 molars; any edentulous span including anterior and posterior areas of 3 or more missing teeth. 900000000000017005 +3042466015 20150731 1 900000000000207008 709852002 en 900000000000550004 A lesion as a result of galvanic current in the oral cavity due to the presence of two or more dissimilar metals in dental restorations that are bathed in saliva, or a single metal restoration and two electrolytes, saliva and pulp tissue fluid, thus producing an electrolytic cell and an electric current. When such restorations touch each other, the current may be high enough to irritate the dental pulp and cause sharp pain. The anodic restoration or areas of a restoration are subject to electrolytic corrosion. 900000000000017005 +3042467012 20150731 1 900000000000207008 312004007 en 900000000000550004 The state of reverse fluid flow through a valve or orifice. 900000000000017005 +3042468019 20150731 1 900000000000207008 709847007 en 900000000000550004 The edentulous span is confined to a single arch and one of the following: Any anterior maxillary span that does not exceed 2 missing incisors; any anterior mandibular span that does not exceed 4 missing incisors; or any posterior maxillary or mandibular span that does not exceed 2 premolars or 1 premolar and 1 molar. 900000000000017005 +3042469010 20150731 1 900000000000207008 709846003 en 900000000000550004 The edentulous span is confined to a single arch. 900000000000017005 +3042470011 20150731 1 900000000000207008 709848002 en 900000000000550004 The edentulous span is in both arches and one of the following: Any anterior maxillary span that does not exceed 2 missing incisors; any anterior mandibular span that does not exceed 4 missing incisors; any posterior maxillary or mandibular span that does not exceed 2 premolars or 1 premolar and 1 molar; or the maxillary or mandibular canine is missing. 900000000000017005 +3042731018 20150731 1 900000000000207008 710005006 en 900000000000550004 Referral to physical training instructor, these instructors can run sporting programs, fitness programs as well as rehabilitation programs. 900000000000017005 +3042733015 20150731 1 900000000000207008 710005006 en 900000000000550004 Referral to physical training instructor, these instructors can run sporting programmes, fitness programmes as well as rehabilitation programmes. 900000000000017005 +3042734014 20150731 1 900000000000207008 709984005 en 900000000000550004 The form and arrangement of the occlusal contacts in natural and artificial dentition. 900000000000017005 +3042735010 20150731 1 900000000000207008 239332003 en 900000000000550004 An immune system percutaneous procedure that observes for evidence of hypersensitivity. 900000000000017005 +3042736011 20150731 1 900000000000207008 710004005 en 900000000000550004 Distance between most retruded contact position and maximum intercuspation of the mandible. 900000000000017005 +3042878011 20150731 1 900000000000207008 710021001 en 900000000000550004 Palatal vault morphology that offers minimal resistance to vertical and horizontal movement of the denture base. 900000000000017005 +3042879015 20150731 1 900000000000207008 710024009 en 900000000000550004 Hyperplastic, mobile anterior ridge that offers minimum support and stability of the denture base. 900000000000017005 +3042880017 20150731 1 900000000000207008 710023003 en 900000000000550004 Loss of posterior buccal vestibule. 900000000000017005 +3042881018 20150731 1 900000000000207008 710022008 en 900000000000550004 Palatal vault morphology that does not resist vertical or horizontal movement of the denture base. 900000000000017005 +3042882013 20150731 1 900000000000207008 710026006 en 900000000000550004 Hyperplastic, redundant anterior ridge. 900000000000017005 +3042964011 20150731 1 900000000000207008 710007003 en 900000000000550004 Unusually large or small tooth with abnormalities of the crown form or root configuration. 900000000000017005 +3043319012 20150731 1 900000000000207008 710101000 en 900000000000550004 Extreme cant to the condylar head beyond the usual normal range. 900000000000017005 +3043320018 20150731 1 900000000000207008 234975001 en 900000000000550004 Dental decay that occurs on the root portion of a tooth. 900000000000017005 +3043321019 20150731 1 900000000000207008 710085008 en 900000000000550004 Residual bone height of 16–20mm measured at the least vertical height of the mandible. 900000000000017005 +3043322014 20150731 1 900000000000207008 710110008 en 900000000000550004 Pain felt as if it were arising in an absent or amputated limb, organ or body part. 900000000000017005 +3043323016 20150731 1 900000000000207008 710090006 en 900000000000550004 The upper canine is positioned distally to the embrasure between the lower canine and first premolar, the canine occlusion is called Class III. 900000000000017005 +3043324010 20150731 1 900000000000207008 709987003 en 900000000000550004 Occlusal scheme that requires localized adjunctive therapy. 900000000000017005 +3043325011 20150731 1 900000000000207008 710087000 en 900000000000550004 Residual vertical bone height of 10mm or less measured at the least vertical height of the mandible. 900000000000017005 +3043326012 20150731 1 900000000000207008 710084007 en 900000000000550004 Residual bone height of 21mm or greater measured at the least vertical height of the mandible. 900000000000017005 +3043327015 20150731 1 900000000000207008 710098004 en 900000000000550004 Either the direction towards the biting surface of the posterior teeth, or to something relating to this surface. 900000000000017005 +3043328013 20150731 1 900000000000207008 709999005 en 900000000000550004 A supernumerary tooth resembling a molar tooth especially in shape. 900000000000017005 +3043329017 20150731 1 900000000000207008 709987003 en 900000000000550004 Occlusal scheme that requires localised adjunctive therapy. 900000000000017005 +3043330010 20150731 1 900000000000207008 710083001 en 900000000000550004 A finding of mandible bone height in edentulous patients by examination of the oral cavity in prosthodontics; part of prosthodontic classification in assessment for dentures/devices. 900000000000017005 +3043331014 20150731 1 900000000000207008 710106005 en 900000000000550004 Extensively drug resistant TB are strains of TB that are resistant to at least rifampicin and isoniazid, and also resistant to a fluoroquinolone and to at least one of the three injectable TB drugs, capreomycin, kanamycin and amikacin. 900000000000017005 +3043332019 20150731 1 900000000000207008 710094002 en 900000000000550004 Pathology that affects the coronal morphology of 4 or more teeth in three or more sextants. 900000000000017005 +3043333012 20150731 1 900000000000207008 709986007 en 900000000000550004 Occlusal scheme in dentate patient that requires localised adjunctive therapy. 900000000000017005 +3043334018 20150731 1 900000000000207008 709995004 en 900000000000550004 Occlusal scheme in partially dentate patient that requires reestablishment, but without any change in vertical dimension of occlusion. 900000000000017005 +3043335017 20150731 1 900000000000207008 710000001 en 900000000000550004 A less aggressive and self-limited pathologic process that can develop without any obvious eliciting factor and is characterized by exposed necrotic bone involving the lingual mandible approximately at the level of the mylohyoid ridge. 900000000000017005 +3043336016 20150731 1 900000000000207008 710100004 en 900000000000550004 A measure of the slope of the occlusal plane on the left to the Frankfort horizontal in degrees, related to tooth eruption. 900000000000017005 +3043337013 20150731 1 900000000000207008 709994000 en 900000000000550004 Occlusal scheme that requires reestablishment, but without any change in vertical dimension of occlusion. 900000000000017005 +3043338015 20150731 1 900000000000207008 710072005 en 900000000000550004 The presence of the following interrelated signs observed in active women and girls: low energy availability with or without disordered eating; menstrual dysfunction; low bone mineral density. 900000000000017005 +3043339011 20150731 1 900000000000207008 710089002 en 900000000000550004 The upper canine is positioned mesial to the embrasure between the lower canine and first premolar, the canine occlusion is called Class II. 900000000000017005 +3043340013 20150731 1 900000000000207008 422481005 en 900000000000550004 Totally (extremely) drug resistant TB is TB which is resistant to all the first and second line TB drugs. 900000000000017005 +3043341012 20150731 1 900000000000207008 709991008 en 900000000000550004 Occlusal scheme that requires reestablishment with changes in the vertical dimension of occlusion. 900000000000017005 +3043342017 20150731 1 900000000000207008 710102007 en 900000000000550004 A measure of the slope of the occlusal plane on the right to the Frankfort horizontal in degrees, related to tooth eruption. 900000000000017005 +3043343010 20150731 1 900000000000207008 709997007 en 900000000000550004 Excessive divergence of the skeletal plane; A steep mandibular plane angle would be present in a Hyperdivergent Skeletal Pattern with a long anterior lower face height with open bite tendency, lip incompetence and often associated with Class II malocclusion. 900000000000017005 +3043344016 20150731 1 900000000000207008 710088005 en 900000000000550004 The upper canine is positioned in the embrasure between the lower canine and first premolar, the canine occlusion is called Class I. 900000000000017005 +3043345015 20150731 1 900000000000207008 710092003 en 900000000000550004 No significant morphology affecting the coronal morphology of the teeth. 900000000000017005 +3043346019 20150731 1 900000000000207008 709993006 en 900000000000550004 Occlusal scheme in dentate patient that requires reestablishment, but without any change in vertical dimension of occlusion. 900000000000017005 +3043347011 20150731 1 900000000000207008 709988008 en 900000000000550004 Occlusal scheme in partially dentate patient that requires localised adjunctive therapy. 900000000000017005 +3043348018 20150731 1 900000000000207008 709992001 en 900000000000550004 Occlusal scheme in partially dentate patient that requires reestablishment with changes in the vertical dimension of occlusion. 900000000000017005 +3043349014 20150731 1 900000000000207008 710093008 en 900000000000550004 Pathology that affects the coronal morphology of three or less teeth in a sextant. 900000000000017005 +3043350014 20150731 1 900000000000207008 710000001 en 900000000000550004 A less aggressive and self-limited pathologic process that can develop without any obvious eliciting factor and is characterised by exposed necrotic bone involving the lingual mandible approximately at the level of the mylohyoid ridge. 900000000000017005 +3043351013 20150731 1 900000000000207008 710099007 en 900000000000550004 The direction towards the anterior midline in a dental arch. 900000000000017005 +3043352018 20150731 1 900000000000207008 710097009 en 900000000000550004 Either the direction towards the biting edge of the anterior teeth, or to something relating to this edge. 900000000000017005 +3043353011 20150731 1 900000000000207008 710108006 en 900000000000550004 Span of mandible from Xi point to Pb. 900000000000017005 +3043354017 20150731 1 900000000000207008 710086009 en 900000000000550004 Residual alveolar bone height of 11–15mm measured at the least vertical height of the mandible. 900000000000017005 +3043355016 20150731 1 900000000000207008 709988008 en 900000000000550004 Occlusal scheme in partially dentate patient that requires localized adjunctive therapy. 900000000000017005 +3043356015 20150731 1 900000000000207008 709989000 en 900000000000550004 Occlusal scheme in dentate patient that requires reestablishment with changes in the vertical dimension of occlusion. 900000000000017005 +3043357012 20150731 1 900000000000207008 5661000124106 en 900000000000550004 Characterized by irregular macular hyperpigmentation of the oral mucosa. 900000000000017005 +3043358019 20150731 1 900000000000207008 710095001 en 900000000000550004 Pathology that affects the coronal morphology of 4 or more teeth in all sextants. 900000000000017005 +3043359010 20150731 1 900000000000207008 709986007 en 900000000000550004 Occlusal scheme in dentate patient that requires localized adjunctive therapy. 900000000000017005 +3043360017 20150731 1 900000000000207008 710091005 en 900000000000550004 For the permanent dentition having 32 teeth. For the primary dentition having 20 teeth. 900000000000017005 +3043577018 20150731 1 900000000000207008 710135002 en 900000000000550004 An activity that supports or encourages a cause or goal. 900000000000017005 +3043578011 20150731 1 900000000000207008 710160002 en 900000000000550004 Position and activity of the tongue that can effect the stability and retention of a mandibular complete denture. 900000000000017005 +3043579015 20150731 1 900000000000207008 710117006 en 900000000000550004 A complex composed of aspartate aminotransferase and immunoglobulin. 900000000000017005 +3043755019 20150731 1 900000000000207008 123571000119104 en 900000000000550004 Less serious form of hypersensitivity reaction which occurs in response to medicines, infections, or illness. 900000000000017005 +3044039010 20150731 1 900000000000207008 710191008 en 900000000000550004 Advanced oxidation protein products (AOPP) are derivatives of oxidation-modified albumin which are formed in conditions of intensified oxidative stress. 900000000000017005 +3044218011 20150731 1 900000000000207008 710243000 en 900000000000550004 A flat mandibular plane angle correlates with short anterior facial vertical dimensions (height) and anterior deep bite malocclusion. 900000000000017005 +3044219015 20150731 1 900000000000207008 3921000175107 en 900000000000550004 Details where a patient's birth plan is stored and/or located. 900000000000017005 +3046127015 20150731 1 900000000000207008 710713001 en 900000000000550004 Hyperplastic epithelial cells with nodular distribution. 900000000000017005 +3046128013 20150731 1 900000000000207008 710729009 en 900000000000550004 Woody tongue includes the involvement of the sublingual space causing elevation, posterior enlargement and protrusion of the tongue. 900000000000017005 +3046311017 20150731 1 900000000000207008 709849005 en 900000000000550004 Edentulous areas are found in both arches and the physiologic abutment support is compromised. 900000000000017005 +3046441016 20150731 1 900000000000207008 124911000119100 en 900000000000550004 Severe mucocutaneous reactions; skin detachment of 10 to 30 percent of body surface area most commonly triggered by medications, characterised by extensive necrosis and detachment of the epidermis. 900000000000017005 +3046442011 20150731 1 900000000000207008 710782002 en 900000000000550004 A distal placement of the mandibular molar, a mesial relationship of the maxillary, or a combination of the two. The mesiobuccal cusp of the maxillary first molar occludes mesial to the buccal groove of the mandibular first molar, usually near the embrasure between the mandibular molar and second premolar. Subdivision of any malocclusion category denotes a unilateral malocclusion classification. 900000000000017005 +3046443018 20150731 1 900000000000207008 22951000119104 en 900000000000550004 Noninfectious variant with a clinical presentation similar to that of the acute disease but with less coryza. 900000000000017005 +3046445013 20150731 1 900000000000207008 710787008 en 900000000000550004 Below the xiphoid. 900000000000017005 +3046446014 20150731 1 900000000000207008 710793000 en 900000000000550004 A measurement of the occlusal plane to the Frankfort horizontal plane. 900000000000017005 +3046447017 20150731 1 900000000000207008 710784001 en 900000000000550004 Mobile removable partial denture in the vertical direction. 900000000000017005 +3046573013 20150731 1 900000000000207008 10692761000119107 en 900000000000550004 Disorder characterized by persistent airflow limitation with several features usually associated with asthma and several features usually associated with COPD; identified by the features that it shares with both asthma and COPD. 900000000000017005 +3046575018 20150731 1 900000000000207008 10692761000119107 en 900000000000550004 Disorder characterised by persistent airflow limitation with several features usually associated with asthma and several features usually associated with COPD; identified by the features that it shares with both asthma and COPD. 900000000000017005 +3046751016 20150731 1 900000000000207008 710923000 en 900000000000550004 Activities done in preparation for sleep that promote sleep. 900000000000017005 +3046752011 20150731 1 900000000000207008 710896001 en 900000000000550004 Teaching about use of eg. pillows, air ring, mattresses - devices used to support patient positioning and or relieve pressure. 900000000000017005 +3046753018 20150731 1 900000000000207008 710881000 en 900000000000550004 Education about eating patterns; includes the temporal distribution of eating across the 24-hour day, meal size, and meal location. 900000000000017005 +3046754012 20150731 1 900000000000207008 124911000119100 en 900000000000550004 Severe mucocutaneous reactions; skin detachment of 10 to 30 percent of body surface area most commonly triggered by medications, characterized by extensive necrosis and detachment of the epidermis. 900000000000017005 +3046755013 20150731 1 900000000000207008 710883002 en 900000000000550004 Education about strategies to increase activity tolerance. 900000000000017005 +3046756014 20150731 1 900000000000207008 710895002 en 900000000000550004 Teaching about use of protective shields eg, hip protector, heel protector, eye patch, wound dressing. 900000000000017005 +3046833010 20150731 1 900000000000207008 709078005 en 900000000000550004 Products containing allergenic substances used for allergy diagnosis or treatment. 900000000000017005 +3046884011 20150731 1 900000000000207008 710952002 en 900000000000550004 Advocating for breastfeeding to move it into the public health arena and restore breastfeeding as the cultural norm. 900000000000017005 +3046885012 20150731 1 900000000000207008 710951009 en 900000000000550004 A care management intervention that is implemented when a patient is discharged to home with a device. 900000000000017005 +3047037016 20150731 1 900000000000207008 710978006 en 900000000000550004 Measures to limit noise and conversation in the patient’s room; keep light levels low and minimise tactile stimulation. 900000000000017005 +3047037016 20210131 0 900000000000207008 710978006 en 900000000000550004 Measures to limit noise and conversation in the patient’s room; keep light levels low and minimise tactile stimulation. 900000000000017005 +3047038014 20150731 1 900000000000207008 710980000 en 900000000000550004 Cross-infection is the transmittal of an infection from one patient in a hospital or health care setting to another patient with different pathogenic microorganisms in the same environment. 900000000000017005 +3047039018 20150731 1 900000000000207008 710971000 en 900000000000550004 Keeping air passage open from mouth to lung alveoli through ability to clear secretions or obstructions from the respiratory tract 900000000000017005 +3047040016 20150731 1 900000000000207008 710979003 en 900000000000550004 Noticing and carefully watching the impaired mental registration of a sensory stimulus, for example hallucination, illusion, pain, itching. 900000000000017005 +3047041017 20150731 1 900000000000207008 710960001 en 900000000000550004 Refers to the use of a transfer technique (without a device) to transfer a patient in order to avoid injury. 900000000000017005 +3047042012 20150731 1 900000000000207008 710978006 en 900000000000550004 Measures to limit noise and conversation in the patient’s room; keep light levels low and minimize tactile stimulation. 900000000000017005 +3047042012 20210131 0 900000000000207008 710978006 en 900000000000550004 Measures to limit noise and conversation in the patient’s room; keep light levels low and minimize tactile stimulation. 900000000000017005 +3047043019 20150731 1 900000000000207008 2360001000004109 en 900000000000550004 Asthmatic attacks requiring supplemental corticosteroids. 900000000000017005 +3047309017 20150731 1 900000000000207008 711038007 en 900000000000550004 Actions and behavioral processes of enhancing impregnation and the physiological process of conception such as monitoring ovulation through basal body temperature and other physiological indicators. 900000000000017005 +3047310010 20150731 1 900000000000207008 711025004 en 900000000000550004 Providing all hands on care at one time to allow for periods of rest. 900000000000017005 +3047311014 20150731 1 900000000000207008 711039004 en 900000000000550004 An abnormally high skull with shortness of anterior-posterior dimension. A type of craniosynostosis in which there is premature closure of the coronal suture resulting in an abnormally short anteroposterior diameter of the cranium. 900000000000017005 +3047314018 20150731 1 900000000000207008 711038007 en 900000000000550004 Actions and behavioural processes of enhancing impregnation and the physiological process of conception such as monitoring ovulation through basal body temperature and other physiological indicators. 900000000000017005 +3047315017 20150731 1 900000000000207008 711040002 en 900000000000550004 Undesirable contact of opposing occlusal surfaces on the nonworking side. 900000000000017005 +3047352017 20150731 1 900000000000207008 711102002 en 900000000000550004 The most posterior point on the spine of the palatine bone. 900000000000017005 +3047353010 20150731 1 900000000000207008 711103007 en 900000000000550004 Characterized by spillage of melanin from the basal keratinocytes into the underlying connective tissue of the lips. 900000000000017005 +3047354016 20150731 1 900000000000207008 711045007 en 900000000000550004 Assessment of school health service's ability to deal with a student's health condition in the school setting. 900000000000017005 +3047355015 20150731 1 900000000000207008 711103007 en 900000000000550004 Characterised by spillage of melanin from the basal keratinocytes into the underlying connective tissue of the lips. 900000000000017005 +3047356019 20150731 1 900000000000207008 711101009 en 900000000000550004 Immaterial anatomical entity which has no spatial dimension. 900000000000017005 +3047492019 20150731 1 900000000000207008 711133000 en 900000000000550004 Administration of fluids as a treatment or preventative measure. 900000000000017005 +3047659015 20150731 1 900000000000207008 15970001000004108 en 900000000000550004 A fracture that occurs in proximity to an implant. 900000000000017005 +3047660013 20150731 1 900000000000207008 14070001000004105 en 900000000000550004 Autonomic disorder involving unilateral hyperhydrosis and flushing of the head and neck. 900000000000017005 +3047862015 20150731 1 900000000000207008 711175004 en 900000000000550004 Carious lesion of any cervical (gingival) or other smooth surface area of tooth. 900000000000017005 +3047863013 20150731 1 900000000000207008 711174000 en 900000000000550004 Carious lesion of interproximal origin arising on any approximal smooth surface of the tooth contacting an adjacent tooth. 900000000000017005 +3047864019 20150731 1 900000000000207008 32570681000036106 en 900000000000550004 Outer genital organs are not visually male or female. 900000000000017005 +3047865018 20150731 1 900000000000207008 711173006 en 900000000000550004 Carious lesion of pit and fissure origin in occlusal areas and buccal or lingual pits. 900000000000017005 +3076133018 20150731 1 900000000000207008 283545005 en 900000000000550004 Physical trauma sustained from the discharge of arms or munitions. 900000000000017005 +3076134012 20150731 1 900000000000207008 711191001 en 900000000000550004 The plate is located between the epiphysis and the metaphysis in long bone and transforms into epiphyseal line in adult life. 900000000000017005 +3076246019 20150731 1 900000000000207008 711284007 en 900000000000550004 An assessment approach involving a team of professionals all of the same discipline. 900000000000017005 +3076247011 20150731 1 900000000000207008 711283001 en 900000000000550004 A cognitive behaviour therapy approach involving a team of professionals all of the same discipline. 900000000000017005 +3076248018 20150731 1 900000000000207008 5399005 en 900000000000550004 Extravasation of blood into the arterial wall following a tear in the intima and leading to separation of the layers of the wall. 900000000000017005 +3076249014 20150731 1 900000000000207008 711292003 en 900000000000550004 The distance between the angle of the throat and soft tissue menton less than 51mm+/-6mm. 900000000000017005 +3076250014 20150731 1 900000000000207008 711290006 en 900000000000550004 An assessment approach involving a multidisciplinary team that can include professional and non-professional workers. 900000000000017005 +3076251013 20150731 1 900000000000207008 711291005 en 900000000000550004 The distance between the angle of the throat and soft tissue menton greater than 51mm+/-6mm. 900000000000017005 +3076252018 20150731 1 900000000000207008 711283001 en 900000000000550004 A cognitive behavior therapy approach involving a team of professionals all of the same discipline. 900000000000017005 +3076253011 20150731 1 900000000000207008 710950005 en 900000000000550004 Planned movements performed in a sequential manner in order to achieve gradual restoration of normal mobility. 900000000000017005 +3078095017 20150731 1 900000000000207008 711329002 en 900000000000550004 A small solid benign tumor with clear-cut border above surrounding tissue. 900000000000017005 +3078096016 20150731 1 900000000000207008 440181000 en 900000000000550004 An acute, unexplained episode that is frightening to the caretaker and that includes one of the following features: apnoea, colour change, marked change in muscle tone, choking or gagging. 900000000000017005 +3078097013 20150731 1 900000000000207008 440181000 en 900000000000550004 An acute, unexplained episode that is frightening to the caretaker and that includes one of the following features: apnea, color change, marked change in muscle tone, choking or gagging. 900000000000017005 +3078309010 20150731 1 900000000000207008 711360002 en 900000000000550004 Application of the drugs within a nerve. 900000000000017005 +3078618018 20150731 1 900000000000207008 711431005 en 900000000000550004 Restore or return to the country of origin, allegiance or citizenship by road. 900000000000017005 +3078619014 20150731 1 900000000000207008 711459006 en 900000000000550004 The distance between the base of the nose and the inferior aspect of the chin. 900000000000017005 +3078620015 20150731 1 900000000000207008 711433008 en 900000000000550004 An acute, unexplained episode that is frightening to the caretaker and that includes one of the following features: apnea, color change, marked change in muscle tone, choking or gagging. 900000000000017005 +3078621016 20150731 1 900000000000207008 711462009 en 900000000000550004 Distance between the sella and gonion. 900000000000017005 +3078622011 20150731 1 900000000000207008 711458003 en 900000000000550004 An encounter that may be done to qualify someone for a specific position that has physical or psychological requirements or after a medical leave to ensure they can return to full duties that are required for the position. 900000000000017005 +3078626014 20150731 1 900000000000207008 711432003 en 900000000000550004 Restore or return to the country of origin, allegiance or citizenship by air travel. 900000000000017005 +3078627017 20150731 1 900000000000207008 711433008 en 900000000000550004 An acute, unexplained episode that is frightening to the caretaker and that includes one of the following features: apnoea, colour change, marked change in muscle tone, choking or gagging. 900000000000017005 +3078628010 20150731 1 900000000000207008 711446003 en 900000000000550004 Evaluation over an extended period of time involving tests, history taking, and preparation. 900000000000017005 +3078928013 20150731 1 900000000000207008 711499009 en 900000000000550004 A rare histopathological disorder of unknown aetiology characterised by the deposition of a subepithelial collagen band with accompanying inflammatory infiltrate. 900000000000017005 +3078929017 20150731 1 900000000000207008 711545001 en 900000000000550004 Migraine is due to low oestrogen level during the contraceptive pill-free interval. 900000000000017005 +3078930010 20150731 1 900000000000207008 711499009 en 900000000000550004 A rare histopathological disorder of unknown etiology characterized by the deposition of a subepithelial collagen band with accompanying inflammatory infiltrate. 900000000000017005 +3078931014 20150731 1 900000000000207008 711495003 en 900000000000550004 A stepdown or lower dependency care unit from cardiac intensive care. 900000000000017005 +3078932019 20150731 1 900000000000207008 711544002 en 900000000000550004 In vitro fertilisation with subsequent transfer to an unrelated surrogate. 900000000000017005 +3078933012 20150731 1 900000000000207008 711545001 en 900000000000550004 Migraine is due to low estrogen level during the contraceptive pill-free interval. 900000000000017005 +3078935017 20150731 1 900000000000207008 711544002 en 900000000000550004 In vitro fertilization with subsequent transfer to an unrelated surrogate. 900000000000017005 +3078936016 20150731 1 900000000000207008 711534004 en 900000000000550004 Cervical assessment done anytime during the obstetric period. 900000000000017005 +3079092013 20150731 1 900000000000207008 706892001 en 900000000000550004 At risk of intimate partner abuse which is defined as physical, sexual or psychological harm perpetrated by a current or former partner. The abuse can occur among heterosexual or same-sex couples and does not require sexual intimacy. 900000000000017005 +3079093015 20150731 1 900000000000207008 8530001000004108 en 900000000000550004 A closed ipsilateral double vertical fracture of the superior pubic ramus and the ischiopubic ramus with fracture or dislocation of the sacroiliac joint. 900000000000017005 +3079094014 20150731 1 900000000000207008 8540001000004109 en 900000000000550004 An open ipsilateral double vertical fracture of the superior pubic ramus and the ischiopubic ramus with fracture or dislocation of the sacroiliac joint. 900000000000017005 +3079095010 20150731 1 900000000000207008 711464005 en 900000000000550004 Vertical distance between the anterior nasal spine and the menton. 900000000000017005 +3079096011 20150731 1 900000000000207008 711527001 en 900000000000550004 Reconstruction using a free flap that receives vascular augmentation from an unrelated source vessel. 900000000000017005 +3082998018 20150731 1 900000000000207008 712555000 en 900000000000550004 Liaising with any member of the health care team regarding the patient's dietary regime. 900000000000017005 +3082999014 20150731 1 900000000000207008 712556004 en 900000000000550004 The process of creating a plan for pain management. 900000000000017005 +3083513013 20150731 1 900000000000207008 712705005 en 900000000000550004 A non-sterile, urine drainage device for men that typically consists of a flexible tube attached to a condom-like sheath. The sheath is fitted over the penis to channel urine, via the tube, into a collection bag. 900000000000017005 +3083514019 20150731 1 900000000000207008 712661008 en 900000000000550004 Injury to any structure of the eyelids, eye and optic nerve, including penetrating injury, from exposure to a blast source. 900000000000017005 +3083515018 20150731 1 900000000000207008 712651001 en 900000000000550004 Teaching about pain e.g. types of pain, what it is and what causes pain. 900000000000017005 +3083601010 20150731 1 900000000000207008 708901009 en 900000000000550004 A benign vasoproliferative lesion in which lymph node sinuses become converted to anastomosing endothelial-lined channels. 900000000000017005 +3083602015 20150731 1 900000000000207008 15071000119107 en 900000000000550004 Past history of artificial enlargement of breast due to choice. 900000000000017005 +3083639019 20150731 1 900000000000207008 119265000 en 900000000000550004 To give support or aid to; help; to be associated with as an assistant or helper. 900000000000017005 +3083989012 20150731 1 900000000000207008 10685111000119102 en 900000000000550004 Upper respiratory tract infection symptoms include: laryngitis, pharyngitis, nasal congestion, rhinorrhea, sneezing and coryza. 900000000000017005 +3083990015 20150731 1 900000000000207008 10685111000119102 en 900000000000550004 Upper respiratory tract infection symptoms include: laryngitis, pharyngitis, nasal congestion, rhinorrhoea, sneezing and coryza. 900000000000017005 +3084085012 20150731 1 900000000000207008 709002005 en 900000000000550004 Small white or flesh-coloured waxy papules ranging in size from 0.5 to 1.2 cm. 900000000000017005 +3084086013 20150731 1 900000000000207008 711364006 en 900000000000550004 Robot surgery is developed on the technique of endoscopic surgery where surgical tools are inserted into the patient through ports that are connected to robotic arms which are controlled by the surgeon. 900000000000017005 +3084102011 20150731 1 900000000000207008 711409002 en 900000000000550004 A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease. 900000000000017005 +3285411013 20160131 1 900000000000207008 712756001 en 900000000000550004 Involves the administration of a short-acting vasodilator followed by measurement of the haemodynamic response using a right heart catheterisation. 900000000000017005 +3285412018 20160131 1 900000000000207008 712756001 en 900000000000550004 Involves the administration of a short-acting vasodilator followed by measurement of the hemodynamic response using a right heart catheterization. 900000000000017005 +3285506013 20160131 1 900000000000207008 712798003 en 900000000000550004 Clusters of enlarged lymph nodes which are small, often hard and usually of no clinical concern. They have a similar feel to buckshot or pellets. 900000000000017005 +3285681013 20160131 1 900000000000207008 712832005 en 900000000000550004 A systolic blood pressure ≥150 mm Hg or diastolic blood pressure ≥90 mm Hg while lying down. 900000000000017005 +3285682018 20160131 1 900000000000207008 712825001 en 900000000000550004 A score for hospitalised patients which predicts the risk of patients returning for avoidable reasons. 900000000000017005 +3285683011 20160131 1 900000000000207008 302283001 en 900000000000550004 The person actively helps with dressing, they may lift their feet for a pant opening or a child may help by pushing their arm through a sleeve. 900000000000017005 +3285684017 20160131 1 900000000000207008 712825001 en 900000000000550004 A score for hospitalized patients which predicts the risk of patients returning for avoidable reasons. 900000000000017005 +3285685016 20160131 1 900000000000207008 302284007 en 900000000000550004 The person may not be able to actively assist but they act jointly to being dressed and do not, for example, fight the caretaker. 900000000000017005 +3286254014 20160131 1 900000000000207008 712877007 en 900000000000550004 An area set up to provide health care services on a temporary basis for a specific short-lived period during an outbreak of illness eg. influenza. 900000000000017005 +3286255010 20160131 1 900000000000207008 411123000 en 900000000000550004 A complex mixture consisting of allergenic proteins derived from natural sources used for allergy diagnosis by skin or provocation testing. 900000000000017005 +3286262018 20160131 1 900000000000207008 30956003 en 900000000000550004 Bilateral removal of more than 50% of each lobe including the isthmus. 900000000000017005 +3286263011 20160131 1 900000000000207008 53533006 en 900000000000550004 Excision of a thyroid nodule with a large margin of normal thyroid tissue. 900000000000017005 +3286263011 20180131 0 900000000000207008 53533006 en 900000000000550004 Excision of a thyroid nodule with a large margin of normal thyroid tissue. 900000000000017005 +3287428012 20160131 1 900000000000207008 176028006 en 900000000000550004 End-to-end anastomosis of the segments of the same ureter, with excision of the intervening injured or scarred ureter. 900000000000017005 +3288024018 20160131 1 900000000000207008 713054000 en 900000000000550004 Person has been witness to an adult misusing alcohol. 900000000000017005 +3288025017 20160131 1 900000000000207008 713053006 en 900000000000550004 Person has been witness to an adult misusing substances. 900000000000017005 +3288026016 20160131 1 900000000000207008 713040008 en 900000000000550004 Non-invasive change of the pressure setting of an implanted adjustable valve without the need for another surgical procedure. 900000000000017005 +3288048010 20160131 1 900000000000207008 713042000 en 900000000000550004 With the individual at the center, this is a map of everything that may affect an individual including interactions with family, friends, business associations, religious community, and any other social or educational groups or clubs. It is often used in counseling by social workers or nurses. 900000000000017005 +3288049019 20160131 1 900000000000207008 713042000 en 900000000000550004 With the individual at the centre, this is a map of everything that may affect an individual including interactions with family, friends, business associations, religious community, and any other social or educational groups or clubs. It is often used in counselling by social workers or nurses. 900000000000017005 +3288188019 20160131 1 900000000000012004 704324001 en 900000000000550004 This attribute specifies the substance or body structure produced by the process characterized by the observable property type. 900000000000017005 +3288188019 20210131 0 900000000000012004 704324001 en 900000000000550004 This attribute specifies the substance or body structure produced by the process characterized by the observable property type. 900000000000017005 +3288238015 20160131 1 900000000000207008 713149007 en 900000000000550004 Facilitating a patient's ability to perform a role--e.g., parenting role, work role. 900000000000017005 +3288238015 20200131 0 900000000000207008 713149007 en 900000000000550004 Facilitating a patient's ability to perform a role--e.g., parenting role, work role. 900000000000017005 +3288239011 20160131 1 900000000000207008 713148004 en 900000000000550004 Care given to improve the quality of life of patients who have a serious or life-threatening disease. The goal of symptom management is to prevent or treat as early as possible the symptoms of a disease, side effects caused by treatment of a disease, and psychological, social, and spiritual problems related to a disease or its treatment. 900000000000017005 +3288372014 20160131 1 900000000000207008 713194001 en 900000000000550004 Oxygen saturation of blood sampled from a central venous catheter. 900000000000017005 +3288740014 20160131 1 900000000000207008 86273004 en 900000000000550004 Removal of tissue for diagnostic examination. 900000000000017005 +3288741013 20160131 1 900000000000207008 122459003 en 900000000000550004 A separation of different structures along natural cleavage lines by dividing the connective tissue framework. 900000000000017005 +3289189015 20160131 1 900000000000207008 713400007 en 900000000000550004 Activation of a call to a medical rapid response team to assess and treat acutely ill and rapidly deteriorating patients. This may or may not include cardiac arrest. 900000000000017005 +3289328019 20160131 1 900000000000207008 713411004 en 900000000000550004 Inability to evacuate bowels properly, characterized by difficulty passing motions and a sensation of blockage or incomplete emptying. 900000000000017005 +3289950013 20160131 1 900000000000207008 105651000119100 en 900000000000550004 History of high blood pressure and protein in urine during pregnancy. 900000000000017005 +3290273019 20160131 1 900000000000207008 31031000119102 en 900000000000550004 The multiple, potentially reversible changes in body systems brought about by physical inactivity and disuse. 900000000000017005 +3290275014 20160131 1 900000000000207008 691471000119109 en 900000000000550004 Transitory imbalance that may be caused by exercise, tachycardia, or emotion. It is characterized by angina because of the increased oxygen demand. 900000000000017005 +3297681011 20160131 1 900000000000207008 713772004 en 900000000000550004 A line extending from the incisal tip of the most protrusive lower incisor thru the root tip. 900000000000017005 +3297682016 20160131 1 900000000000207008 713768003 en 900000000000550004 A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the most anterior point of the alveolar process of the mandible (infradentale). 900000000000017005 +3297683014 20160131 1 900000000000207008 713777005 en 900000000000550004 A form of spondyloarthritis in which the predominant symptom is back pain, and where radiographic sacroiliitis might or might not be present. 900000000000017005 +3297684015 20160131 1 900000000000207008 713771006 en 900000000000550004 A line extending from the most inferior point of the mandibular symphysis in the midsagittal plane (menton) to the most posterior inferior point on the outline of the angle of the mandible (gonion). 900000000000017005 +3297686018 20160131 1 900000000000207008 713756007 en 900000000000550004 A line joining points sella and nasion. 900000000000017005 +3297687010 20160131 1 900000000000207008 713775002 en 900000000000550004 A new narcotic or psychotropic drug that is not controlled by the United Nations drug conventions, but which may pose a public health threat comparable to that posed by substances listed in these conventions. 900000000000017005 +3297688017 20160131 1 900000000000207008 713767008 en 900000000000550004 A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the junction of frontal bone and nasal bone (a point). 900000000000017005 +3297689013 20160131 1 900000000000207008 713755006 en 900000000000550004 An anatomic point located in the centre of the rectangle, at the intersection of the diagonals, formed by the Frankfort horizontal and pterygoid root vertical planes (PTV). 900000000000017005 +3297690016 20160131 1 900000000000207008 713766004 en 900000000000550004 A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the most posterior inferior point on the outline of the angle of the mandible (gonion). 900000000000017005 +3297691017 20160131 1 900000000000207008 713770007 en 900000000000550004 The mesial contact point of the maxillary permanent first molar. 900000000000017005 +3297692012 20160131 1 900000000000207008 713765000 en 900000000000550004 A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the most anterior point of bony chin (pogonion). 900000000000017005 +3297693019 20160131 1 900000000000207008 713744006 en 900000000000550004 A line connecting the midpoint of the sella turcica (Sella) to the most anterior inferior point of chin (Gnathion). 900000000000017005 +3297694013 20160131 1 900000000000207008 713755006 en 900000000000550004 An anatomic point located in the center of the rectangle, at the intersection of the diagonals, formed by the Frankfort horizontal and pterygoid root vertical planes (PTV). 900000000000017005 +3297695014 20160131 1 900000000000207008 713759000 en 900000000000550004 A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the most inferior anterior point on the maxillary alveolar process, between the central incisors (prosthion). 900000000000017005 +3297854014 20160131 1 900000000000207008 713864005 en 900000000000550004 The center point of sella turcica used as a landmark in cephalometrics. 900000000000017005 +3297855010 20160131 1 900000000000207008 713834002 en 900000000000550004 A form of sexual abuse where the child is sexually exploited for money, power or status. 900000000000017005 +3297856011 20160131 1 900000000000207008 713849005 en 900000000000550004 The point of the upper alveolar process that projects most anteriorly in the midline. 900000000000017005 +3297857019 20160131 1 900000000000207008 713836000 en 900000000000550004 The issuing of any medication that is provided to anticipate possible exacerbation of a chronic condition such as asthma or chronic obstructive pulmonary disease. 900000000000017005 +3297858012 20160131 1 900000000000207008 713852002 en 900000000000550004 The most anterior inferior point on the bony outline of the chin in the midsagittal plane. 900000000000017005 +3297859016 20160131 1 900000000000207008 713850005 en 900000000000550004 The lowest point on the anterior rim of the foramen magnum. 900000000000017005 +3297860014 20160131 1 900000000000207008 713848002 en 900000000000550004 A line connecting the anterior nasal spine to the posterior nasal spine. 900000000000017005 +3297861013 20160131 1 900000000000207008 713864005 en 900000000000550004 The centre point of sella turcica used as a landmark in cephalometrics. 900000000000017005 +3297862018 20160131 1 900000000000207008 713838004 en 900000000000550004 Ensuring the patient is taking their medicine as intended in order to support the management of long-term conditions, multimorbidities and polypharmacy. 900000000000017005 +3297863011 20160131 1 900000000000207008 713875009 en 900000000000550004 Nerve block between pectoralis major and minor with the therapeutic goal of blocking the medial and lateral pectoral nerves. 900000000000017005 +3297864017 20160131 1 900000000000207008 713851009 en 900000000000550004 A line extending from a constructed point representing the intersection of the inferior surface of the cranial base and the posterior outlines of the mandibular condyles to the most posterior inferior point on the outline of the angle of the mandible. 900000000000017005 +3298048012 20160131 1 900000000000207008 713879003 en 900000000000550004 Local contributing factors include improperly contoured restorations, missing or worn restorations, or gingival architecture that is unusual and allows for accumulation of food debris. 900000000000017005 +3298282014 20160131 1 900000000000207008 713973003 en 900000000000550004 An imaginary curved plane formed by the incisal edges of the anterior teeth and the occlusal surfaces of the posterior teeth. 900000000000017005 +3298283016 20160131 1 900000000000207008 713966008 en 900000000000550004 Chronic hepatitis B with negative hepatitis B surface antigen and low level viral replication but positive hepatitis B virus deoxyribonucleic acid test. 900000000000017005 +3298743013 20160131 1 900000000000207008 713126005 en 900000000000550004 Formal, planned, and structured event separate from regular contacts. Provides holistic, coordinated, and integrated multidisciplinary services and includes where possible and appropriate, the client and family members/close supports. 900000000000017005 +3298744019 20160131 1 900000000000207008 714150002 en 900000000000550004 A radiographic technique used for showing true dimensions by moving a narrow orthogonal beam of x-rays along the length of the structure being measured. 900000000000017005 +3298745018 20160131 1 900000000000207008 714107007 en 900000000000550004 Failure of neuromuscular block reversal agents to antagonise a neuro muscular blocking drug. 900000000000017005 +3298746017 20160131 1 900000000000207008 714126004 en 900000000000550004 Gingivitis involving the entire mouth or more than 30 percent of the surfaces. 900000000000017005 +3298747014 20160131 1 900000000000207008 714093000 en 900000000000550004 Sexual activity has occurred in the six months prior to the current time. 900000000000017005 +3298748016 20160131 1 900000000000207008 714096008 en 900000000000550004 Sexual activity has occurred in the month prior to the current time. 900000000000017005 +3298750012 20160131 1 900000000000207008 714095007 en 900000000000550004 Sexual activity has occurred in the year prior to the current time. 900000000000017005 +3299932015 20160131 1 900000000000207008 714250007 en 900000000000550004 A sterile, flexible, single-lumen tube intended to be introduced into the trachea of a neonate for the administration of exogenous surfactant as part of pulmonary surfactant therapy. 900000000000017005 +3299933013 20160131 1 900000000000207008 714478005 en 900000000000550004 Inflammation characterised by gingival redness and swelling with bleeding on probing (provocation). 900000000000017005 +3299934019 20160131 1 900000000000207008 714477000 en 900000000000550004 Inflammation characterized by gingival redness and swelling with spontaneous bleeding. 900000000000017005 +3299936017 20160131 1 900000000000207008 714280002 en 900000000000550004 The point at which the lower margin of the nasal septum meets the upper lip in the midsagittal plane. 900000000000017005 +3299937014 20160131 1 900000000000207008 714279000 en 900000000000550004 A progressive chronic inflammatory disease of the central nervous system with the aetiologic agent Human T cell lymphotropic virus type I (HTLV-I), the disease is characterised by unremitting myelopathic symptoms such as spastic paraparesis, bowel and/or bladder dysfunction and sensory changes of the lower limbs. 900000000000017005 +3299938016 20160131 1 900000000000207008 714628002 en 900000000000550004 Characterized by blood glucose levels that are higher than normal but not yet high enough to be classed as diabetes. Indicates a relatively high risk for the future development of diabetes. 900000000000017005 +3299939012 20160131 1 900000000000207008 714628002 en 900000000000550004 Characterised by blood glucose levels that are higher than normal but not yet high enough to be classed as diabetes. Indicates a relatively high risk for the future development of diabetes. 900000000000017005 +3299940014 20160131 1 900000000000207008 714477000 en 900000000000550004 Inflammation characterised by gingival redness and swelling with spontaneous bleeding. 900000000000017005 +3299941013 20160131 1 900000000000207008 714249007 en 900000000000550004 Gingival redness and swelling. 900000000000017005 +3299942018 20160131 1 900000000000207008 714485009 en 900000000000550004 Gingivitis involving less than 30% of the gingiva. 900000000000017005 +3299943011 20160131 1 900000000000207008 714279000 en 900000000000550004 A progressive chronic inflammatory disease of the central nervous system with the etiologic agent Human T cell lymphotropic virus type I (HTLV-I), the disease is characterized by unremitting myelopathic symptoms such as spastic paraparesis, bowel and/or bladder dysfunction and sensory changes of the lower limbs. 900000000000017005 +3299944017 20160131 1 900000000000207008 714478005 en 900000000000550004 Inflammation characterized by gingival redness and swelling with bleeding on probing (provocation). 900000000000017005 +3300040018 20160131 1 900000000000207008 714743009 en 900000000000550004 A route that occurs outside of the body. 900000000000017005 +3300222012 20160131 1 900000000000207008 713351000 en 900000000000550004 Multi Drug Resistance (MDR) is defined as non-susceptibility to at least one agent in three or more epidemiologically significant antimicrobial categories. Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. http://onlinelibrary.wiley.com/enhanced/doi/10.1111/j.1469-0691.2011.03570.x/ (Accessed on 6 October 2015) 900000000000017005 +3300222012 20170131 0 900000000000207008 713351000 en 900000000000550004 Multi Drug Resistance (MDR) is defined as non-susceptibility to at least one agent in three or more epidemiologically significant antimicrobial categories. Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. http://onlinelibrary.wiley.com/enhanced/doi/10.1111/j.1469-0691.2011.03570.x/ (Accessed on 6 October 2015) 900000000000017005 +3300223019 20160131 1 900000000000207008 713757003 en 900000000000550004 A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the anterior limit of the mandibular basal bone (b point). 900000000000017005 +3300224013 20160131 1 900000000000207008 714789002 en 900000000000550004 Extensive drug resistance (XDR) is defined as non-susceptibility to at least one agent in all but two or fewer epidemiologically significant antimicrobial categories (i.e. bacterial isolates remain susceptible to only one or two categories). Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. http://onlinelibrary.wiley.com/enhanced/doi/10.1111/j.1469-0691.2011.03570.x/ (Accessed on 6 October 2015) 900000000000017005 +3300224013 20170131 0 900000000000207008 714789002 en 900000000000550004 Extensive drug resistance (XDR) is defined as non-susceptibility to at least one agent in all but two or fewer epidemiologically significant antimicrobial categories (i.e. bacterial isolates remain susceptible to only one or two categories). Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. http://onlinelibrary.wiley.com/enhanced/doi/10.1111/j.1469-0691.2011.03570.x/ (Accessed on 6 October 2015) 900000000000017005 +3300225014 20160131 1 900000000000207008 714792003 en 900000000000550004 Pandrug resistance (PDR) is defined as non-susceptibility to all agents in all epidemiologically significant antimicrobial categories (i.e. no agents tested as susceptible for that organism). Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. http://onlinelibrary.wiley.com/enhanced/doi/10.1111/j.1469-0691.2011.03570.x/ (Accessed on 6 October 2015) 900000000000017005 +3300225014 20170131 0 900000000000207008 714792003 en 900000000000550004 Pandrug resistance (PDR) is defined as non-susceptibility to all agents in all epidemiologically significant antimicrobial categories (i.e. no agents tested as susceptible for that organism). Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. http://onlinelibrary.wiley.com/enhanced/doi/10.1111/j.1469-0691.2011.03570.x/ (Accessed on 6 October 2015) 900000000000017005 +3301330018 20160131 1 900000000000207008 713381008 en 900000000000550004 The administration of lipid emulsion solutions (parenteral nutrition solutions such as intralipid) to treat local anaesthetic toxicity. 900000000000017005 +3301330018 20220630 0 900000000000207008 713381008 en 900000000000550004 The administration of lipid emulsion solutions (parenteral nutrition solutions such as intralipid) to treat local anaesthetic toxicity. 900000000000017005 +3301331019 20160131 1 900000000000207008 713381008 en 900000000000550004 The administration of lipid emulsion solutions (parenteral nutrition solutions such as intralipid) to treat local anesthetic toxicity. 900000000000017005 +3301331019 20220630 0 900000000000207008 713381008 en 900000000000550004 The administration of lipid emulsion solutions (parenteral nutrition solutions such as intralipid) to treat local anesthetic toxicity. 900000000000017005 +3301699010 20160131 1 900000000000207008 404818005 en 900000000000550004 A route that begins inside of the trachea specifically, and does not include the potential administration directly to pulmonary locations. 900000000000017005 +3301700011 20160131 1 900000000000207008 715074009 en 900000000000550004 Insertion of an osseointegrated prosthesis to form a direct interface between the implant and the bone, without intervening soft tissue. 900000000000017005 +3301843014 20160731 1 900000000000207008 715197005 en 900000000000550004 Fetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias. 900000000000017005 +3301854016 20160731 1 900000000000207008 715201005 en 900000000000550004 A rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive. 900000000000017005 +3301897014 20160731 1 900000000000207008 715216008 en 900000000000550004 Rare multiple congenital contracture syndrome characterized by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. 900000000000017005 +3301906013 20160731 1 900000000000207008 715218009 en 900000000000550004 Characterized by severe hypercalcemia from birth and associated with major hyperparathyroidism. The prevalence is unknown, clinical manifestations are early and severe including respiratory distress, bone under mineralization and multiple fractures. 900000000000017005 +3301960017 20160731 1 900000000000207008 715215007 en 900000000000550004 Syndrome associated with an increased risk of developing Wilms tumor, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation. 900000000000017005 +3301961018 20160731 1 900000000000207008 715215007 en 900000000000550004 Syndrome associated with an increased risk of developing Wilms tumour, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation. 900000000000017005 +3301962013 20160731 1 900000000000207008 715218009 en 900000000000550004 Characterised by severe hypercalcaemia from birth and associated with major hyperparathyroidism. The prevalence is unknown, clinical manifestations are early and severe including respiratory distress, bone under mineralisation and multiple fractures. 900000000000017005 +3301964014 20160731 1 900000000000207008 715216008 en 900000000000550004 Rare multiple congenital contracture syndrome characterised by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. 900000000000017005 +3301965010 20160731 1 900000000000207008 715201005 en 900000000000550004 A rare intestinal disorder of neonates of unknown aetiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhoea, vomiting and failure to thrive. 900000000000017005 +3301971016 20160731 1 900000000000207008 715241001 en 900000000000550004 Characterized by bilateral renal agenesis or dysplasia, megacystis secondary to urethral obstruction and sirenomelia. The disorder is lethal. 900000000000017005 +3301972011 20160731 1 900000000000207008 715241001 en 900000000000550004 Characterised by bilateral renal agenesis or dysplasia, megacystis secondary to urethral obstruction and sirenomelia. The disorder is lethal. 900000000000017005 +3302083019 20160731 1 900000000000207008 715282001 en 900000000000550004 Used in the prevention of problems associated with poor diet and inactivity for example in schizophrenia where drug side effects can cause weight gain. 900000000000017005 +3302093014 20160731 1 900000000000207008 715285004 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 1-2 millimeters of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3302095019 20160731 1 900000000000207008 715285004 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 1-2 millimetres of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3302098017 20160731 1 900000000000207008 715286003 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 3-4 millimeters of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3302099013 20160731 1 900000000000207008 715286003 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 3-4 millimetres of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3302103015 20160731 1 900000000000207008 715287007 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 5 millimeters or more of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3302104014 20160731 1 900000000000207008 715287007 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 5 millimetres or more of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3302126010 20160731 1 900000000000207008 715192004 en 900000000000550004 Characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter relaxation in response to deglutition. A rare disease with no gender predilection, the peak incidence occurs between 30 and 60 years of age. Although the precise etiology is unknown, it is often thought to be either autoimmune, viral immune, or neurodegenerative. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant etiologic factor. 900000000000017005 +3302127018 20160731 1 900000000000207008 715192004 en 900000000000550004 Characterised by loss of oesophageal peristalsis and insufficient lower oesophageal sphincter relaxation in response to deglutition. A rare disease with no gender predilection, the peak incidence occurs between 30 and 60 years of age. Although the precise aetiology is unknown, it is often thought to be either autoimmune, viral immune, or neurodegenerative. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant aetiologic factor. 900000000000017005 +3302196016 20160731 1 900000000000207008 715314008 en 900000000000550004 An autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis. 900000000000017005 +3302197013 20160731 1 900000000000207008 715314008 en 900000000000550004 An autosomal dominant congenital anomaly characterised by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis 900000000000017005 +3302201013 20160731 1 900000000000207008 715316005 en 900000000000550004 A form of arthrogryposis multiplex congenital characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy. 900000000000017005 +3302202018 20160731 1 900000000000207008 715316005 en 900000000000550004 A form of arthrogryposis multiplex congenital characterised by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy. 900000000000017005 +3302208019 20160731 1 900000000000207008 715317001 en 900000000000550004 A multisystemic disease characterised by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21). 900000000000017005 +3302209010 20160731 1 900000000000207008 715317001 en 900000000000550004 A multisystemic disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21). 900000000000017005 +3302213015 20160731 1 900000000000207008 715318006 en 900000000000550004 A form of Ehlers-Danlos syndrome that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility. 900000000000017005 +3302214014 20160731 1 900000000000207008 715318006 en 900000000000550004 A form of Ehlers-Danlos syndrome that affects the soft connective tissue and is characterised by skin hyperextensibility, widened atrophic scars and joint hypermobility. 900000000000017005 +3302264019 20160731 1 900000000000207008 715223009 en 900000000000550004 Acquired developmental anomaly syndrome characterized by skin, neural, ocular, limbs and growth defects secondary to Varicella-Zoster virus infection. 900000000000017005 +3302265018 20160731 1 900000000000207008 715223009 en 900000000000550004 Acquired developmental anomaly syndrome characterised by skin, neural, ocular, limbs and growth defects secondary to Varicella-Zoster virus infection. 900000000000017005 +3302267014 20160731 1 900000000000207008 715337002 en 900000000000550004 A group of anomalies that may result from maternal infection and subsequent fetal infection with the Herpes virus. The virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent. Pregnancy complications including preterm delivery, intrauterine growth retardation, and neonatal infection have been attributed to the Herpes virus. Exposure of the fetus to Herpes virus at the time of delivery carries a serious risk of infection for the newborn. 900000000000017005 +3302272017 20160731 1 900000000000207008 715338007 en 900000000000550004 Congenital lactic acidosis is defined by the presence of a metabolic acidosis due to the accumulation of lactic acid in blood. Congenital defects of any one of the multiple enzymatic steps of pyruvate utilization induce accumulation of pyruvate and lactate, but usually to levels that do not provoke metabolic acidosis. Lactic acidosis is therefore an extreme situation, due either to very severe defects or to acute metabolic crisis associated with less severe defects. It occurs mostly in neonates or very young infants, with polypnea, severe hypotonia, lethargy, and vomiting, after a silent period during which the children were considered as normal. Facial dysmorphism and cerebral malformations may be noted, as well as diverse organ involvement such as hypertrophic myocardiopathy, tubulopathy, or liver insufficiency. 900000000000017005 +3302273010 20160731 1 900000000000207008 715338007 en 900000000000550004 Congenital lactic acidosis is defined by the presence of a metabolic acidosis due to the accumulation of lactic acid in blood. Congenital defects of any one of the multiple enzymatic steps of pyruvate utilisation induce accumulation of pyruvate and lactate, but usually to levels that do not provoke metabolic acidosis. Lactic acidosis is therefore an extreme situation, due either to very severe defects or to acute metabolic crisis associated with less severe defects. It occurs mostly in neonates or very young infants, with polypnoea, severe hypotonia, lethargy, and vomiting, after a silent period during which the children were considered as normal. Facial dysmorphism and cerebral malformations may be noted, as well as diverse organ involvement such as hypertrophic myocardiopathy, tubulopathy, or liver insufficiency. 900000000000017005 +3302277011 20160731 1 900000000000207008 715339004 en 900000000000550004 Opacification and vascularization of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. 900000000000017005 +3302278018 20160731 1 900000000000207008 715339004 en 900000000000550004 Opacification and vascularisation of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. 900000000000017005 +3302281011 20160731 1 900000000000207008 715340002 en 900000000000550004 Limb girdle muscular dystrophy characterized by limb-girdle weakness and calf pseudohypertrophy. 900000000000017005 +3302282016 20160731 1 900000000000207008 715340002 en 900000000000550004 Limb girdle muscular dystrophy characterised by limb-girdle weakness and calf pseudohypertrophy. 900000000000017005 +3302287010 20160731 1 900000000000207008 715341003 en 900000000000550004 A limb girdle muscular dystrophy characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances. 900000000000017005 +3302288017 20160731 1 900000000000207008 715341003 en 900000000000550004 A limb girdle muscular dystrophy characterised by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances. 900000000000017005 +3302294013 20160731 1 900000000000207008 715342005 en 900000000000550004 In males the syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. This syndrome is X-linked recessive and results from mutations in the ATRX gene. 900000000000017005 +3302295014 20160731 1 900000000000207008 715342005 en 900000000000550004 In males the syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. Female carriers are usually physically and intellectually normal. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behavior. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. This syndrome is X-linked recessive and results from mutations in the ATRX gene. 900000000000017005 +3302299015 20160731 1 900000000000207008 715343000 en 900000000000550004 A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance. 900000000000017005 +3302305018 20160731 1 900000000000207008 715344006 en 900000000000550004 A variant of neurofibromatosis type 1 characterized by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity. 900000000000017005 +3302306017 20160731 1 900000000000207008 715344006 en 900000000000550004 A variant of neurofibromatosis type 1 characterised by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity. 900000000000017005 +3302312010 20160731 1 900000000000207008 715345007 en 900000000000550004 A form of Parkinson disease with age of onset between 21 and 45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints, falls and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms. The exact etiology is still unknown. Gene mutations have been implicated in some cases, most cases are sporadic however familial cases have been reported in which an autosomal recessive mode of inheritance has been suggested. 900000000000017005 +3302313017 20160731 1 900000000000207008 715345007 en 900000000000550004 A form of Parkinson disease with age of onset between 21 and 45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints, falls and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms. The exact aetiology is still unknown. Gene mutations have been implicated in some cases, most cases are sporadic however familial cases have been reported in which an autosomal recessive mode of inheritance has been suggested. 900000000000017005 +3302365015 20160731 1 900000000000207008 715365000 en 900000000000550004 A very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. 900000000000017005 +3302373012 20160731 1 900000000000207008 715366004 en 900000000000550004 A rare autosomal recessive cerebellar ataxia characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. Cerebellar ataxia is the first manifestation of AOA1 with progressive gait imbalance followed by dysarthria, and limb dysmetria. Later, peripheral axonal motor neuropathy dominates the clinical picture. Oculomotor apraxia is present in almost all individuals with AOA1. Chorea is present at onset in 80% of patients and upper limb dystonia occurs in about 50% of individuals. Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy. Variable intellectual disability is observed. 900000000000017005 +3302374018 20160731 1 900000000000207008 715366004 en 900000000000550004 A rare autosomal recessive cerebellar ataxia characterised by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminaemia. Cerebellar ataxia is the first manifestation of AOA1 with progressive gait imbalance followed by dysarthria, and limb dysmetria. Later, peripheral axonal motor neuropathy dominates the clinical picture. Oculomotor apraxia is present in almost all individuals with AOA1. Chorea is present at onset in 80% of patients and upper limb dystonia occurs in about 50% of individuals. Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy. Variable intellectual disability is observed. 900000000000017005 +3302381013 20160731 1 900000000000207008 715369006 en 900000000000550004 In this disorder cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive. 900000000000017005 +3302382018 20160731 1 900000000000207008 715369006 en 900000000000550004 In this disorder cerebellar ataxia is congenital (non-progressive) and characterised by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive. 900000000000017005 +3302388019 20160731 1 900000000000207008 715371006 en 900000000000550004 A very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy. 900000000000017005 +3302389010 20160731 1 900000000000207008 715371006 en 900000000000550004 A very rare disease, characterised by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy. 900000000000017005 +3302397015 20160731 1 900000000000207008 715374003 en 900000000000550004 A variant of autosomal dominant optic atrophy associating typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness. ADOA plus is caused by mutations in the OPA1 gene (3q29), encoding a dynamin-like GTPase involved in the fusion of the inner mitochondrial membrane. The phenotypes observed in ADOA plus are thus related to mitochondrial DNA instability resulting in multiple mitochondrial DNA deletions. Transmission is autosomal dominant with variable penetrance. 900000000000017005 +3302433019 20160731 1 900000000000207008 715365000 en 900000000000550004 A very rare chromosomal disorder of unknown prevalence characterised by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. 900000000000017005 +3302435014 20160731 1 900000000000207008 715391004 en 900000000000550004 An ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus that can appear associated with or without premature ovarian failure. The disorder is congenital. Additional features include lacrimal duct anomalies, broad nasal bridge, low-set ears, and a short philtrum. Occurs either sporadically (de novo) or, for the eyelid phenotype, is inherited in an autosomal dominant manner with complete penetrance. 900000000000017005 +3302436010 20160731 1 900000000000207008 715391004 en 900000000000550004 An ophthalmic disorder characterised by blepharophimosis, ptosis, epicanthus inversus, and telecanthus that can appear associated with or without premature ovarian failure. The disorder is congenital. Additional features include lacrimal duct anomalies, broad nasal bridge, low-set ears, and a short philtrum. Occurs either sporadically (de novo) or, for the eyelid phenotype, is inherited in an autosomal dominant manner with complete penetrance. 900000000000017005 +3302452013 20160731 1 900000000000207008 715395008 en 900000000000550004 Inherited atrial fibrillation that is not due to a structural abnormality or secondary cause. The condition usually occurs in people under 60 years of age. 900000000000017005 +3302458012 20160731 1 900000000000207008 715397000 en 900000000000550004 A rare benign liver tumor of childhood that usually presents before the age of 2. The tumor is of mesenchymal origin and has a variable clinical presentation. 900000000000017005 +3302459016 20160731 1 900000000000207008 715397000 en 900000000000550004 A rare benign liver tumour of childhood that usually presents before the age of 2. The tumour is of mesenchymal origin and has a variable clinical presentation. 900000000000017005 +3302474019 20160731 1 900000000000207008 715401008 en 900000000000550004 An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive. 900000000000017005 +3302475018 20160731 1 900000000000207008 715401008 en 900000000000550004 An autoimmune disorder characterised by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive. 900000000000017005 +3302478016 20160731 1 900000000000207008 715402001 en 900000000000550004 A rare condition characterized by generalized, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the GR gene. 900000000000017005 +3302479012 20160731 1 900000000000207008 715402001 en 900000000000550004 A rare condition characterised by generalised, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the GR gene. 900000000000017005 +3302485017 20160731 1 900000000000207008 715403006 en 900000000000550004 Neoplasm of the heart that manifests in adults, 75% of heart tumors are benign, with myxoma being the most common benign tumor. 900000000000017005 +3302486016 20160731 1 900000000000207008 715403006 en 900000000000550004 Neoplasm of the heart that manifests in adults, 75% of heart tumours are benign, with myxoma being the most common benign tumour. 900000000000017005 +3302490019 20160731 1 900000000000207008 715404000 en 900000000000550004 A rare syndrome comprising hypocalcified-hypoplastic tooth enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis. 900000000000017005 +3302495012 20160731 1 900000000000207008 715406003 en 900000000000550004 A diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures. 900000000000017005 +3302503012 20160731 1 900000000000207008 715409005 en 900000000000550004 A rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. The etiology of C syndrome is still unknown. Although most of the reported patients are sporadic, rare cases of familial occurrence have been described. 900000000000017005 +3302504018 20160731 1 900000000000207008 715409005 en 900000000000550004 A rare multiple congenital anomaly/intellectual disability syndrome characterised by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. The aetiology of C syndrome is still unknown. Although most of the reported patients are sporadic, rare cases of familial occurrence have been described. 900000000000017005 +3302514010 20160731 1 900000000000207008 715412008 en 900000000000550004 A malignant tumour of the prostate with an early onset. Is either asymptomatic or causes symptoms on micturition, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterised by familial antecedents. 900000000000017005 +3302515011 20160731 1 900000000000207008 715412008 en 900000000000550004 A malignant tumor of the prostate with an early onset. Is either asymptomatic or causes symptoms on micturition, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents. 900000000000017005 +3302519017 20160731 1 900000000000207008 715414009 en 900000000000550004 Defined by the presence of pancreatic cancer in two or more first-degree relatives. In familial cases, disease onset occurs before 50 years of age, earlier than for the other forms of pancreatic cancer. Prognosis is poor. 900000000000017005 +3302522015 20160731 1 900000000000207008 715415005 en 900000000000550004 An extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. 900000000000017005 +3302523013 20160731 1 900000000000207008 715415005 en 900000000000550004 An extremely rare neurodegenerative disorder characterised by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. 900000000000017005 +3302533017 20160731 1 900000000000207008 715417002 en 900000000000550004 This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. 900000000000017005 +3302538014 20160731 1 900000000000207008 715418007 en 900000000000550004 An autosomal recessive disorder that is the most severe, neonatally lethal form of arthrogryposis a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. 900000000000017005 +3302539018 20160731 1 900000000000207008 715418007 en 900000000000550004 An autosomal recessive disorder that is the most severe, neonatally lethal form of arthrogryposis a disorder characterised by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. 900000000000017005 +3302546010 20160731 1 900000000000207008 715419004 en 900000000000550004 Autosomal recessive disorder originally described in Finnish families. Diagnostic criteria are early fetal hydrops and akinesia, specific neuropathology with degeneration of anterior horn neurons, and extreme skeletal muscle atrophy. The Israeli-Bedouin pedigree is characterized by congenital contractures and additional unique phenotypic abnormalities, suggesting it represents a novel variant of autosomal recessive LCCS. Features distinguishing the novel disorder, LCCS2, from the Finnish type of LCCS included additional craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy. The major unique and previously undescribed clinical feature in the Israeli Bedouin disorder is markedly distended urinary bladder. 900000000000017005 +3302547018 20160731 1 900000000000207008 715419004 en 900000000000550004 Autosomal recessive disorder originally described in Finnish families. Diagnostic criteria are early foetal hydrops and akinesia, specific neuropathology with degeneration of anterior horn neurons, and extreme skeletal muscle atrophy. The Israeli-Bedouin pedigree is characterised by congenital contractures and additional unique phenotypic abnormalities, suggesting it represents a novel variant of autosomal recessive LCCS. Features distinguishing the novel disorder, LCCS2, from the Finnish type of LCCS included additional craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy. The major unique and previously undescribed clinical feature in the Israeli Bedouin disorder is markedly distended urinary bladder. 900000000000017005 +3302555013 20160731 1 900000000000207008 715420005 en 900000000000550004 Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. 900000000000017005 +3302561011 20160731 1 900000000000207008 715421009 en 900000000000550004 An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). 900000000000017005 +3302562016 20160731 1 900000000000207008 715421009 en 900000000000550004 An X-linked malformation syndrome characterised by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). 900000000000017005 +3302565019 20160731 1 900000000000207008 715422002 en 900000000000550004 Characterized by frontal encephalocele, craniosynostosis, and developmental delay. 900000000000017005 +3302566018 20160731 1 900000000000207008 715422002 en 900000000000550004 Characterised by frontal encephalocoele, craniosynostosis, and developmental delay. 900000000000017005 +3302573011 20160731 1 900000000000207008 312929003 en 900000000000550004 Acute zonal occult outer retinopathy (AZOOR) is typified by acute loss of 1 or more zones of outer retinal function associated with photopsia, minimal funduscopic changes, and abnormal ERG findings 900000000000017005 +3302580013 20160731 1 900000000000207008 715426004 en 900000000000550004 An exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. 900000000000017005 +3302581012 20160731 1 900000000000207008 715426004 en 900000000000550004 An exceedingly rare, benign, congenital, corneal tumour characterised by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. 900000000000017005 +3302581012 20210930 0 900000000000207008 715426004 en 900000000000550004 An exceedingly rare, benign, congenital, corneal tumour characterised by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. 900000000000017005 +3302585015 20160731 1 900000000000207008 715427008 en 900000000000550004 A rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nail malformations as well as intellectual disability. 900000000000017005 +3302585015 20210131 0 900000000000207008 715427008 en 900000000000550004 A rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nail malformations as well as intellectual disability. 900000000000017005 +3302586019 20160731 1 900000000000207008 715427008 en 900000000000550004 A rare variant of frontonasal dysplasia characterised by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nail malformations as well as intellectual disability. 900000000000017005 +3302586019 20210131 0 900000000000207008 715427008 en 900000000000550004 A rare variant of frontonasal dysplasia characterised by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nail malformations as well as intellectual disability. 900000000000017005 +3302590017 20160731 1 900000000000207008 715428003 en 900000000000550004 Moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait. 900000000000017005 +3302594014 20160731 1 900000000000207008 715429006 en 900000000000550004 This syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission appears to be autosomal recessive. 900000000000017005 +3302595010 20160731 1 900000000000207008 715429006 en 900000000000550004 This syndrome is characterised by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission appears to be autosomal recessive. 900000000000017005 +3302600018 20160731 1 900000000000207008 715430001 en 900000000000550004 A group of symptoms which may be observed in the fetus or newborn when the mother has taken indomethacin, a nonsteroidal anti-inflammatory drug during pregnancy. The drug crosses the human placenta readily throughout gestation, but its effects on the embryo/fetus vary according to the stage of pregnancy. 900000000000017005 +3302601019 20160731 1 900000000000207008 715625007 en 900000000000550004 Variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Additional features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum). Prevalence is unknown, may be caused by a variety of genetic defects. 900000000000017005 +3302604010 20160731 1 900000000000207008 715431002 en 900000000000550004 A teratogenic disorder associated with intrauterine exposure to phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but at an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism. 900000000000017005 +3302627019 20160731 1 900000000000207008 715437003 en 900000000000550004 A very rare multisystem neurodegenerative disorder characterised by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioural or cognitive difficulties. Most cases are sporadic. 900000000000017005 +3302638019 20160731 1 900000000000207008 715439000 en 900000000000550004 A rare form of genetic lipodystrophy with loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance. Inherited in an autosomal dominant manner. 900000000000017005 +3302643014 20160731 1 900000000000207008 715440003 en 900000000000550004 Complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). 900000000000017005 +3302646018 20160731 1 900000000000207008 715441004 en 900000000000550004 Belongs to the group of multiple congenital anomalies/mental retardation syndromes with intellectual deficit, distinctive facies (upward slanting palpebral fissures, squint), kyphoscoliosis, diastasis recti, cryptorchidism, and a congenital heart defect. Autosomal recessive inheritance suggested. 900000000000017005 +3302710016 20160731 1 900000000000207008 715462003 en 900000000000550004 A very rare disorder, features include microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. 900000000000017005 +3302715014 20160731 1 900000000000207008 715463008 en 900000000000550004 The most common subtype of pontocerebellar hypoplasia with features of neonatal onset, lack of voluntary motor development and later progressive microencephaly, general clonus, development of chorea and spasticity.The majority of patients will not reach puberty. Inherited in an autosomal recessive manner. 900000000000017005 +3302720014 20160731 1 900000000000207008 715464002 en 900000000000550004 Extremely rare syndrome with features of microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. This syndrome is transmitted as an X-linked trait. 900000000000017005 +3302726015 20160731 1 900000000000207008 715465001 en 900000000000550004 Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic. 900000000000017005 +3302738012 20160731 1 900000000000207008 715470008 en 900000000000550004 A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, with features of bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints. Manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly has been reported in a few patients with the disorder. 900000000000017005 +3302743017 20160731 1 900000000000207008 715471007 en 900000000000550004 This syndrome manifests with mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. Transmission is autosomal recessive. 900000000000017005 +3302749018 20160731 1 900000000000207008 715472000 en 900000000000550004 Disproportionate short stature present from birth with dysplasia of the ulna and fibula. Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described. The syndrome is transmitted in an autosomal dominant manner. 900000000000017005 +3302760010 20160731 1 900000000000207008 715474004 en 900000000000550004 Severe reduction or absence of the fibula and complex brachydactyly. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene. 900000000000017005 +3302777010 20160731 1 900000000000207008 715482004 en 900000000000550004 Growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. Transmission is autosomal recessive. 900000000000017005 +3302783013 20160731 1 900000000000207008 715483009 en 900000000000550004 Infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. 900000000000017005 +3302788016 20160731 1 900000000000207008 715484003 en 900000000000550004 Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested. 900000000000017005 +3302797017 20160731 1 900000000000207008 715487005 en 900000000000550004 Rare disorder with features of severe resorption of the hands and feet and absence of the distal and middle phalanges. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. 900000000000017005 +3302808010 20160731 1 900000000000207008 715491000 en 900000000000550004 Progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. Autosomal recessive spastic paraplegia type 11 is a form of complicated spastic paraplegia with neurological features such as mental impairment and thin corpus callosum in addition to spasticity. 900000000000017005 +3302854018 20160731 1 900000000000207008 715504003 en 900000000000550004 A chronic neurodegenerative disorder with features of spastic paraparesis (beginning at about 10 years of age) and hearing deficits. It has been described in affecting at least six male members spanning three generations of a large family. Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials. 900000000000017005 +3302861019 20160731 1 900000000000207008 715506001 en 900000000000550004 Rare syndrome with features of phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients from two unrelated families. 900000000000017005 +3302908011 20160731 1 900000000000207008 715522000 en 900000000000550004 Skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. Only a few cases have been described. Patients have intercalary limb deficiencies (phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia) and skull defects. Additional features may include thoracic dystrophy, unusual facies (dysplastic and large ears, and a high and narrow palate), and genital malformations.Growth and mental development are normal. 900000000000017005 +3302911012 20160731 1 900000000000207008 715523005 en 900000000000550004 Rare syndrome with manifestations of mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus also reported. So far, it has been described in four unrelated infants, it is suggested that the syndrome is caused by defective expression of a developmental control gene. 900000000000017005 +3302922011 20160731 1 900000000000207008 715526002 en 900000000000550004 A rare hemolytic anemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant. 900000000000017005 +3302923018 20160731 1 900000000000207008 715526002 en 900000000000550004 A rare haemolytic anaemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated haemolysis. Pseudohyperkalaemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant. 900000000000017005 +3302926014 20160731 1 900000000000207008 715527006 en 900000000000550004 Rare syndrome with manifestation of sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Transmission appears to be autosomal recessive. 900000000000017005 +3302930012 20160731 1 900000000000207008 715528001 en 900000000000550004 Rare syndrome with manifestation of progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far reported in two families. Transmission is autosomal dominant. 900000000000017005 +3302936018 20160731 1 900000000000207008 715529009 en 900000000000550004 A hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). 900000000000017005 +3302946016 20160731 1 900000000000207008 715531000 en 900000000000550004 A rare condition with features of congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. 900000000000017005 +3302949011 20160731 1 900000000000207008 715532007 en 900000000000550004 An apparently familial disorder with features of anterior bowing of tibiae and fibulae and cortical hyperostosis on the concave side of the curvature. Associated anomalies may include short stature and in some cases mental retardation. 900000000000017005 +3302955018 20160731 1 900000000000207008 715533002 en 900000000000550004 A congenital syndromic form of split-hand/foot malformation with features of microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP. 900000000000017005 +3302960019 20160731 1 900000000000207008 715534008 en 900000000000550004 A rare neurological condition with manifestation of seizures during the first year of life and choreoathetotic dyskinetic attacks during childhood or adolescence. Benign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures. Seizures are afebrile and normally disappear after the first year of life. During childhood or adolescence, affected individuals present with paroxysmal kinesigenic dyskinesia with frequent and recurrent episodic choreathetotic or dystonic movements that last less than 1 minute. Can present as sporadic or familial, in the latter case, it is transmitted as an autosomal dominant trait that can be variably expressed within the same family. 900000000000017005 +3302966013 20160731 1 900000000000207008 715535009 en 900000000000550004 A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the disease. 900000000000017005 +3303023014 20160731 1 900000000000207008 715559004 en 900000000000550004 An inherited bleeding disorder caused by the reduction in activity and antigen levels of both factor V and factor VIII with manifestation of mild-to-moderate bleeding symptoms. Caused by mutations either in the LMAN1 gene (chromosome 18; q21) or in the MCFD2 gene (chromosome 2). Transmission is autosomal recessive. 900000000000017005 +3303026018 20160731 1 900000000000207008 715560009 en 900000000000550004 A rare rhythm disorder with sustained tachycardia in newborns and infants and an atrial rate often at around 440 beats/minute. May manifest as asymptomatic tachycardia, congestive heart failure or hydrops. 900000000000017005 +3303029013 20160731 1 900000000000207008 715561008 en 900000000000550004 A familial predisposition for developing bilateral and multifocal type 1 papillary renal carcinoma. Transmitted as an autosomal dominant trait with reduced penetrance, the syndrome is associated with germline mutations in the MET proto-oncogene (7q31). 900000000000017005 +3303048012 20160731 1 900000000000207008 715568002 en 900000000000550004 A bone dysplasia with manifestation of bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones. Autosomal dominant mode of transmission. 900000000000017005 +3303062017 20160731 1 900000000000207008 715574002 en 900000000000550004 A rare progressive neurodegenerative disorder with typical onset between 50 and 65 years of age. Manifestation is of progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities. Prevalence is unknown, largely due to the lack of awareness of the syndrome and the inaccurate terminology referring to it. Alzheimer's disease is the most common underlying pathology, but cases attributable to Dementia with Lewy Bodies, corticobasal degeneration or prion disease have also been reported. 900000000000017005 +3303066019 20160731 1 900000000000207008 715575001 en 900000000000550004 An inherited developmental defect syndrome with features of multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. 900000000000017005 +3303069014 20160731 1 900000000000207008 715576000 en 900000000000550004 A rare disorder with manifestation of hypo or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients are born with multiple teeth. Hair anomalies (sparse body and scalp hair) also reported. Inheritance is autosomal dominant. 900000000000017005 +3303073012 20160731 1 900000000000207008 715577009 en 900000000000550004 The association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. Patients present typically with the following main features: age less than 40 years at onset of symptoms, recurrence of biliary symptoms after cholecystectomy, intrahepatic hyperechoic foci or sludge or microlithiasis along the biliary tree. A defect in ABCB4 function causes the production of bile with low phospholipid content, increased lithogenicity and high detergent properties leading to bile duct luminal membrane injuries and resulting in cholestasis with increased serum gamma-glutamyltransferase (GGT) activity. 900000000000017005 +3303205014 20160731 1 900000000000207008 715624006 en 900000000000550004 A rare chronic immune-mediated demyelinating polyneuropathy. The exact prevalence is unknown but less than 30 cases have been reported in the literature. The clinical picture comprises a chronic neuropathy with marked sensory ataxia and areflexia, and with relatively preserved motor function in the limbs. Motor weakness affecting the oculomotor and bulbar muscles is present as either a fixed or relapsing-remitting feature. 900000000000017005 +3303216019 20160731 1 900000000000207008 715626008 en 900000000000550004 A restrictive cardiopathy with manifestation of endocardial fibrosis. This disorder occurs almost exclusively in tropical and subtropical regions. The prevalence is unknown but the disorder is extremely rare in Europe. The fibrosis may affect the right ventricle (leading to adiastole with tricuspid insufficiency) or the left ventricle (causing acute mitral insufficiency, and early and severe pulmonary hypertension). The fibrosis can also be bilateral. The cause is unknown. 900000000000017005 +3303224012 20160731 1 900000000000207008 715628009 en 900000000000550004 Syndrome with the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34. 900000000000017005 +3303228010 20160731 1 900000000000207008 715629001 en 900000000000550004 This syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Transmission is autosomal dominant. 900000000000017005 +3303229019 20160731 1 900000000000207008 715629001 en 900000000000550004 This syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Transmission is autosomal dominant. 900000000000017005 +3303235019 20160731 1 900000000000207008 715630006 en 900000000000550004 Patches of hyperpigmentation in the skin, which are present at birth or in early infancy and increase in size and number with age. A rare autosomal dominant disorder. 900000000000017005 +3303239013 20160731 1 900000000000207008 715631005 en 900000000000550004 Chondrodysplasia punctata syndrome with stippled epiphyses, mild facial anomalies, short stature, and ocular colobomata. Congenital heart disease and central nervous system anomalies are also reported. 900000000000017005 +3303242019 20160731 1 900000000000207008 715632003 en 900000000000550004 A type of Oculocutaneous albinism with varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Cutaneous hypopigmentation is often visible at birth and signs of nystagmus and strabismus present in the first year of life. Visual changes are not progressive. Caused by mutations in the membrane-associated transporter protein (MATP) gene, SLC45A2, encoding a transporter protein which is thought to mediate melanin synthesis. Inheritance is autosomal recessive. 900000000000017005 +3303246016 20160731 1 900000000000207008 715633008 en 900000000000550004 Refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome but that do not carry WRN gene mutations. Similar to classical Werner Syndrome caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. Compared to Werner Syndrome, it has an earlier age of onset (early 20s or earlier) and a more rapid rate of progression. 900000000000017005 +3303251010 20160731 1 900000000000207008 715634002 en 900000000000550004 A rare fibro-osseous lesion of the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Multiple dense lobulated bone lesions often symmetrical are located in various regions of the jaw and can be seen on radiological examination. 900000000000017005 +3303277019 20160731 1 900000000000207008 715644000 en 900000000000550004 Hereditary vascular malformations featuring the presence of small, multifocal bluish-purple venous lesions involving the skin. May be present at birth, and slowly expand during childhood. New small lesions appear with time. Often painful on palpation and cannot be completely emptied by compression. They are usually multifocal and are located mainly on the extremities, involving the skin and subcutis. Caused by mutations in the gene encoding glomulin and inherited in an autosomal dominant manner. 900000000000017005 +3303286012 20160731 1 900000000000207008 715647007 en 900000000000550004 Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration. 900000000000017005 +3303296015 20160731 1 900000000000207008 715649005 en 900000000000550004 Skin of eyelid fold arises in the lower eyelid tarsal region and extends up through the medial canthus towards the brow. 900000000000017005 +3303298019 20160731 1 900000000000207008 715651009 en 900000000000550004 Skin of eyelid fold arises in the region of the upper tarsal plate and extends to the medial canthus. 900000000000017005 +3303302010 20160731 1 900000000000207008 715652002 en 900000000000550004 Severely hypoplastic and triangular-shaped tibiae and absence of the fibulae.Two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia also reported. 900000000000017005 +3303310011 20160731 1 900000000000207008 715654001 en 900000000000550004 Very rare poorly-defined bone disease with manifestation of ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism. 900000000000017005 +3303316017 20160731 1 900000000000207008 715655000 en 900000000000550004 Hereditary transthyretin related systemic amyloidosis with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. Prevalence is unknown, patients present during adulthood with restrictive cardiomyopathy. Over 80 pathogenetic mutations in the TTR gene (18q12.1) have been reported so far. Transmitted as an autosomal dominant trait. 900000000000017005 +3303320018 20160731 1 900000000000207008 715656004 en 900000000000550004 A rare autosomal dominant disorder with features of aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying manifestations from infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. 900000000000017005 +3303323016 20160731 1 900000000000207008 715657008 en 900000000000550004 A severely disabling disease with manifestation of progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. Familial forms appear to be very rare, with only three families identified so far. Age of onset in these familial cases ranges from 15-48. Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members. 900000000000017005 +3303339011 20160731 1 900000000000207008 715437003 en 900000000000550004 A very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioral or cognitive difficulties. Most cases are sporadic. 900000000000017005 +3303346019 20160731 1 900000000000207008 715665006 en 900000000000550004 An autosomal dominant form of hereditary motor and sensory neuropathy with dominant proximal involvement. Manifestations include adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidemia, and diabetes mellitus. 900000000000017005 +3303347011 20160731 1 900000000000207008 715665006 en 900000000000550004 An autosomal dominant form of hereditary motor and sensory neuropathy with dominant proximal involvement. Manifestations include adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidaemia, and diabetes mellitus. 900000000000017005 +3303355016 20160731 1 900000000000207008 715667003 en 900000000000550004 An acquired form of intestinal lymphangiectasia manifesting as a protein-losing enteropathy. May be due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome or in patients who have undergone a Fontan operation. 900000000000017005 +3303358019 20160731 1 900000000000207008 715668008 en 900000000000550004 Pituitary deficiency due to a disorder that involves the sella turcica, a bony structure at the base of the brain that surrounds and protects the pituitary gland. 900000000000017005 +3303359010 20160731 1 900000000000207008 715669000 en 900000000000550004 A congenital enteropathy presenting with early-onset severe intractable diarrhea sometimes causing irreversible intestinal failure. Infants develop a watery diarrhea within the first days after birth and the diarrhea persists in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal, rectal or esophageal atresia. Autosomal recessive transmission but the causative gene has not been yet identified. 900000000000017005 +3303360017 20160731 1 900000000000207008 715669000 en 900000000000550004 A congenital enteropathy presenting with early-onset severe intractable diarrhoea sometimes causing irreversible intestinal failure. Infants develop a watery diarrhoea within the first days after birth and the diarrhoea persists in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal, rectal or oesophageal atresia. Autosomal recessive transmission but the causative gene has not been yet identified. 900000000000017005 +3303371016 20160731 1 900000000000207008 715671000 en 900000000000550004 An autosomal recessive form of brachyolmia a group of rare genetic skeletal disorders, with features of short stature, short trunk, platyspondyly and corneal opacities. 900000000000017005 +3303375013 20160731 1 900000000000207008 715672007 en 900000000000550004 A multiple epiphyseal dysplasia with a late-childhood onset manifesting as joint pain involving hips, knees, wrists and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees, scoliosis and slightly reduced adult height. Follows an autosomal recessive mode of transmission 900000000000017005 +3303379019 20160731 1 900000000000207008 715673002 en 900000000000550004 A form of multiple epiphyseal dysplasia manifesting as normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early onset osteoarthrosis. Specific features include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. The disease follows an autosomal dominant mode of transmission. 900000000000017005 +3303383019 20160731 1 900000000000207008 715674008 en 900000000000550004 A type of multiple epiphyseal dysplasia manifesting with early onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Specific features include normal stature and lesser incidence of gait abnormalities. Follows an autosomal dominant mode of transmission. 900000000000017005 +3303483018 20160731 1 900000000000207008 715707008 en 900000000000550004 In postaxial polydactyly type B the extra digit is rudimentary and poorly developed. 900000000000017005 +3303484012 20160731 1 900000000000207008 715704001 en 900000000000550004 In postaxial polydactyly type A the extra digit is well formed and articulates with the fifth or an extra metacarpal. 900000000000017005 +3303489019 20160731 1 900000000000207008 715710001 en 900000000000550004 Features the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane. Also associated with systemic syndromes including Holt-Oram syndrome. 900000000000017005 +3303510012 20160731 1 900000000000207008 715720006 en 900000000000550004 A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait. 900000000000017005 +3303514015 20160731 1 900000000000207008 715721005 en 900000000000550004 A very rare congenital malformation with brachymesophalangy affecting mainly the second and the fifth digit. When the fourth digit is affected, it results in an abnormally shaped middle phalanx, leading to radial deviation of the distal phalanx. Absence of the middle phalanges of the lateral four toes has been reported. Autosomal dominant inheritance is suggested. 900000000000017005 +3303518017 20160731 1 900000000000207008 715722003 en 900000000000550004 Manifestations of brachymesophalangy with mesomelic short limbs and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. Transmission appears to be autosomal dominant. 900000000000017005 +3303521015 20160731 1 900000000000207008 715723008 en 900000000000550004 A distal limb malformation with manifestation of complete or partial webbing between the third and fourth fingers and/or the second and third toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges. Inherited as an autosomal dominant trait. 900000000000017005 +3303525012 20160731 1 900000000000207008 715724002 en 900000000000550004 A rare congenital distal limb malformation with the combination of syndactyly and polydactyly. In most cases affects the third and fourth fingers and the fourth and fifth toes bilaterally. Additional features include fifth finger clinodactyly, camptodactyly and/or brachydactyly. Inherited in an autosomal dominant manner. 900000000000017005 +3303529018 20160731 1 900000000000207008 715725001 en 900000000000550004 A rare congenital distal limb malformation with complete and bilateral syndactyly between the fourth and fifth fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The feet are not affected. Inherited in an autosomal dominant manner. 900000000000017005 +3303534019 20160731 1 900000000000207008 715726000 en 900000000000550004 A neurodegenerative disorder with progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Manifestations that present in infancy and early childhood include muscle weakness, wasting, hypotonia, poor feeding, failure to thrive and loss of motor milestones. Inherited autosomal dominantly. The prognosis depends on the age of symptom onset. An earlier onset is associated with a more severe and rapidly progressive disease. 900000000000017005 +3303538016 20160731 1 900000000000207008 715727009 en 900000000000550004 A congenital abnormality of the pituitary that is responsible for pituitary deficiency with usual manifestation of a triad of very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary and hypoplasia or aplasia of the anterior pituitary. In the majority of cases no genetic cause is found, however, the presence of familial forms and the association with microphallus and congenital abnormalities, particularly of the eyes, suggest an antenatal origin. 900000000000017005 +3303554018 20160731 1 900000000000207008 715733000 en 900000000000550004 A unique form of congenital adrenal hyperplasia characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilization of external genitalia in girls and undervirilization in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance. 900000000000017005 +3303555017 20160731 1 900000000000207008 715733000 en 900000000000550004 A unique form of congenital adrenal hyperplasia characterised by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilisation of external genitalia in girls and undervirilisation in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance. 900000000000017005 +3303560018 20160731 1 900000000000207008 715734006 en 900000000000550004 An absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. In symptomatic cases, clinical features and signs may include decreased activity and increased sleep, feeding difficulty, constipation and prolonged jaundice. Slow linear growth and developmental delay may also occur. Some familial cases have been reported suggesting genetic factors but to date none have been identified in humans. 900000000000017005 +3303564010 20160731 1 900000000000207008 715735007 en 900000000000550004 A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy. 900000000000017005 +3303568013 20160731 1 900000000000207008 715736008 en 900000000000550004 A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained through sporadic pseudohypoparathyroidism type 1b and have paternal UPD20 involving variable segments of the long arm of chromosome 20. 900000000000017005 +3303572012 20160731 1 900000000000207008 715737004 en 900000000000550004 Main features described as symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction. Prevalence is unknown, but a higher number of cases have been described in the French West Indies. This form of atypical parkinsonism may be related to exposure to tropical plants containing mitochondrial complex I inhibitors. Guadelupian parkinsonism may actually be a tauopathy identical or closely related to progressive supranuclear palsy. Most patients are L-dopa unresponsive. 900000000000017005 +3303597011 20160731 1 900000000000207008 715748006 en 900000000000550004 Main features described as dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. The disease typically presents in the fourth decade. Ataxia gradually progresses and additional features may emerge including proprioceptive loss, hypoactive reflexes, ophthalmoparesis, and mild optic neuropathy. Initial presentation with blepharospasm, oromandibular dystonia, and retrocollis preceding ataxia has been reported. Caused by CAG repeat expansions in the ATXN1 gene region on chromosome 6p23. 900000000000017005 +3303606018 20160731 1 900000000000207008 715751004 en 900000000000550004 Main features described as truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Presents in the third or fourth decade, Parkinsonism is also a less common but well-documented manifestation. There is no distinct clinical feature that reliably distinguishes type 1 from type 2 although tremor and autonomic dysfunction are more common in type 2. 900000000000017005 +3303609013 20160731 1 900000000000207008 715752006 en 900000000000550004 Main features described as late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. The mean age of onset is 45 years but can range from the ages of 16 to 72 years. It usually presents with the cerebellar signs of ataxia and dysarthria as well as dysphagia. Some patients also have episodic vertigo and diplopia. Parkinsonism, dystonia, myoclonus, tremor and cognitive impairment have been reported in rare cases. 900000000000017005 +3303612011 20160731 1 900000000000207008 715753001 en 900000000000550004 Main features described as cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. Other features include dysexecutive disorders and commonly psychiatric disorders. 900000000000017005 +3303615013 20160731 1 900000000000207008 715754007 en 900000000000550004 Main features described as slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. Prevalence is unknown. Many kindreds have been found in Mexican and Brazilian populations. Age of onset ranges from 18 to 45 years. Caused by an ATTCT pentanucleotide repeat expansion in intron 9 of the ATXN10 gene (22q13). Exact pathogenesis has not been determined but RNA processing may be involved. 900000000000017005 +3303618010 20160731 1 900000000000207008 715755008 en 900000000000550004 A very rare progressive and untreatable disease with manifestations of ataxia with sensory neuropathy. Prevalence is unknown, typically starts in middle-aged adults and presents with cerebellar ataxia, pyramidal signs, and peripheral sensory loss. The disease has been linked to chromosome 16q22.1 in kindreds from Utah (USA) and Germany but the mutation is yet unknown and does not appear to involve trinucleotide repeats. 900000000000017005 +3303621012 20160731 1 900000000000207008 715756009 en 900000000000550004 Training for adjustments to lifestyle resulting from illness or disability. 900000000000017005 +3303656011 20160731 1 900000000000207008 715768000 en 900000000000550004 A rare neurometabolic disorder with main features described as childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa and that may be associated with parkinsonism at an older age. Inherited in an autosomal dominant manner, but due to gender-based incomplete penetrance, not everyone with a mutation will display the disease phenotype. 900000000000017005 +3303664017 20160731 1 900000000000207008 715770009 en 900000000000550004 A pure motor axonal form of Guillain-Barré syndrome that presents with rapid onset of muscle weakness and absent reflexes. The clinical course tends to be more severe than in the more frequent, demyelinating form of Guillain-Barré syndrome. In the majority of cases, this disease occurs following Campylobacter jejuni infection, in particular following infection with strains of C jejuni that cause enteritis. 900000000000017005 +3303669010 20160731 1 900000000000207008 715771008 en 900000000000550004 A developmental disorder of the eye with manifestation of unilateral or bilateral microphthalmia associated with ocular coloboma. 900000000000017005 +3303680010 20160731 1 900000000000207008 715776003 en 900000000000550004 A form of hereditary spastic paraplegia with onset usually in adulthood of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia. 900000000000017005 +3303684018 20160731 1 900000000000207008 715777007 en 900000000000550004 Segmental dystonia that manifests with involuntary posturing affecting predominantly the feet. The exact prevalence is unknown. The disease is reported in a limited number of Jewish and Gypsy families. The onset of the symptoms is early in childhood or adolescence. 900000000000017005 +3303692010 20160731 1 900000000000207008 715780008 en 900000000000550004 A semi-dominant X-linked disease with intellectual deficiency and seizures that is more severe in male patients. Boys presenting with lissencephaly show an abnormally thick cortex with very few gyri (pachygyria) or even none (agyria). Clinical manifestations include swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as ''doublecortex'' or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy to refractory epileptic seizures and severe intellectual deficiency. The condition is caused by doublecortin (DCX, located at Xq22.3-q23) gene mutations. 900000000000017005 +3303692010 20210930 0 900000000000207008 715780008 en 900000000000550004 A semi-dominant X-linked disease with intellectual deficiency and seizures that is more severe in male patients. Boys presenting with lissencephaly show an abnormally thick cortex with very few gyri (pachygyria) or even none (agyria). Clinical manifestations include swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as ''doublecortex'' or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy to refractory epileptic seizures and severe intellectual deficiency. The condition is caused by doublecortin (DCX, located at Xq22.3-q23) gene mutations. 900000000000017005 +3303706011 20160731 1 900000000000207008 715787006 en 900000000000550004 Surgical dissection to remove levels VI and VII cervical lymph nodes of neck. 900000000000017005 +3303713011 20160731 1 900000000000207008 715788001 en 900000000000550004 A form of potassium-aggravated myotonia which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. Fluctuating myotonia develops during childhood or adolescence and involves the extraocular, bulbar and limb muscles. Myotonia fluctuans is a sodium muscle channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant. 900000000000017005 +3303717012 20160731 1 900000000000207008 715789009 en 900000000000550004 A very rare, persistent and more severe form of potassium-aggravated myotonia. Begins during childhood (usually before 10 years of age) and involves mainly the face, neck, limbs, and thoracic muscles. It can be aggravated by exercise or potassium ingestion and less often by cold. Myotonia permanens is a muscle sodium channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant. 900000000000017005 +3303736019 20160731 1 900000000000207008 715794009 en 900000000000550004 RAVINE syndrome is an extremely rare genetic neurological disorder reported in a small number of patients in a specific community on Reunion Island (France) with manifestation of infantile anorexia, irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of posterior fossa along with supra-tentorial periventricular white-matter hyperintensities and basal ganglion anomalies. 900000000000017005 +3303740011 20160731 1 900000000000207008 715795005 en 900000000000550004 Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. 900000000000017005 +3303746017 20160731 1 900000000000207008 715797002 en 900000000000550004 Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis. CMT4C is a relatively frequent form of CMT4: it was first described in Algeria but families have since been reported from Morocco, Mediterranean countries and from Germany, the Netherlands and France. Scoliosis may be the inaugural feature of the disease, with onset usually occurring in childhood. CMT4C is caused by mutations in the SH3TC2 gene (5q32). Transmitted in an autosomal recessive manner. 900000000000017005 +3303747014 20160731 1 900000000000207008 715796006 en 900000000000550004 Charcot-Marie-Tooth disease type 4A (CMT4A) is a severe, early-onset form of demyelinating Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with manifestation of severe motor retardation and progressive scoliosis. Considered the most frequent of all autosomal recessive forms of CMT. Onset usually occurs in infancy with distal muscle weakness and foot atrophy followed by proximal involvement and then distal weakness in the upper extremities and atrophy of the hands. Vocal cord paresis may also occur. CMT4A is caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. Transmitted in an autosomal recessive manner. 900000000000017005 +3303750012 20160731 1 900000000000207008 715798007 en 900000000000550004 Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4, a demyelinating hereditary motor and sensory neuropathy. Main features described as gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade and sensorineural deafness usually manifesting in the second or third decade of life. CMT4D was first reported in the Bulgarian Romani community of Lom and to date, has mainly been associated with the Roma population. CMT4D is caused by a single ancestral mutation (p.R148X) in the NDRG1 gene (8q24) coding for the NDRG1 protein that has a role in the peripheral nervous system, possibly in Schwann cell signaling necessary for axonal survival. Transmission is autosomal recessive. 900000000000017005 +3303754015 20160731 1 900000000000207008 715799004 en 900000000000550004 Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy. Onset occurs between 8 and 16 years of age with distal lower limb weakness, followed by distal upper limb involvement with a more variable age of onset of between 10 and 43 years. Sensory loss is also a prominent feature. The disease-causing gene has not yet been identified but linkage analysis and recombination mapping have led to identification of a small interval on 10q23.2. Transmitted in an autosomal recessive manner. 900000000000017005 +3303757010 20160731 1 900000000000207008 715800000 en 900000000000550004 Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. Clinically and pathologically very similar to Charcot-Marie-Tooth type 4B1 with childhood-onset of muscle weakness, sensory loss, reduced nerve conduction velocities, characteristic myelin outfoldings and a severe disease course. However, in addition to the severe neuropathy, patients from some CMT4B2 families also develop early-onset glaucoma. Caused by mutations in the MTMR13/SBF2 gene encoding a protein involved in polyphosphoinositide signaling. Transmitted in an autosomal recessive manner. 900000000000017005 +3303760015 20160731 1 900000000000207008 715801001 en 900000000000550004 Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It is a rare form of CMT4 but the few reported families are from diverse ethnic groups: Lebanese Shiite Muslims, Hispanic North Americans, Northern Europeans and a Vietnamese family. Onset generally occurs in childhood but severity varies. Early onset with delayed motor milestones, and proximal and distal muscle weakness has been reported but a family in which the clinical picture was marked initially by sensory neuropathy has also been described. CMT4 is caused by mutations in the PRX gene (19q13.2). Transmitted in an autosomal recessive manner. 900000000000017005 +3303763018 20160731 1 900000000000207008 715802008 en 900000000000550004 Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It has been described in 10 individuals from two large consanguineous families from Lebanon and Algeria. Onset occurs within the first two years of life with slowly progressive muscle weakness in the distal extremities. Other common features include delayed walking, an abnormal gait, scoliosis and pes equines with toe retraction. CMT4H is caused by mutations in the FGD4 gene (12p11.1). Transmitted in an autosomal recessive manner. 900000000000017005 +3303766014 20160731 1 900000000000207008 715803003 en 900000000000550004 Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. It was initially described in an Italian family and around 10 additional families have been described so far. Onset occurs during early childhood with distal and proximal muscular weakness starting in the lower extremities, sensory loss and cranial nerve involvement. Foot deformities are frequent and diaphragmatic and facial involvement has been reported. CMT4B1 is caused by mutations in the gene encoding myotubularin-related protein 2 (MTMR2; 11q22), involved in polyphosphoinositide signaling. Transmitted in an autosomal recessive manner. 900000000000017005 +3303767017 20160731 1 900000000000207008 715793003 en 900000000000550004 A form of potassium-aggravated myotonia which shows dramatic improvement with the use of acetazolamide. Symptoms generally manifest during childhood (before 10 years old), with myotonia of the facial, limbs and/or intercostal muscles that is triggered by potassium ingestion, fasting and mildly by cold exposure and exercise. Muscle stiffness is generally painful. Acetazolamide-responsive myotonia is a sodium muscle channelopathy due to missense mutations of the SCN4A gene, encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant. 900000000000017005 +3303811019 20160731 1 900000000000207008 715819005 en 900000000000550004 A form of lissencephaly with cerebellar hypoplasia with main features of subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic feature on imaging. 900000000000017005 +3303815011 20160731 1 900000000000207008 715820004 en 900000000000550004 A severe form of lissencephaly with cerebellar hypoplasia with main features of severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. 900000000000017005 +3303819017 20160731 1 900000000000207008 715821000 en 900000000000550004 A form of lissencephaly with cerebellar hypoplasia with main features of pronounced microcephaly, intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. 900000000000017005 +3303823013 20160731 1 900000000000207008 715822007 en 900000000000550004 A severe form of lissencephaly with cerebellar hypoplasia with main features microcephaly of at least 3 standard deviations and a thick cortex associated with complete absence of the corpus callosum. 900000000000017005 +3303831015 20160731 1 900000000000207008 715824008 en 900000000000550004 Spinocerebellar ataxia type 28 (SCA28) is very rare with main features of juvenile onset and slowly progressive cerebellar ataxia due to Purkinje cell degeneration. The mean age of symptom onset was 19.5 years in the original kindred. Some patients show cognitive impairment. In more advanced stages of the disorder, ophthalmoparesis, slowed saccades, ptosis and pyramidal signs are reported. SCA28 is caused by mutations in the AFG3L2 gene located to chromosome 18p11.21. Inherited autosomal dominantly. 900000000000017005 +3303835012 20160731 1 900000000000207008 715825009 en 900000000000550004 Spinocerebellar ataxia type 29 (SCA29) is a rare disease with main features of very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. SCA29 presents at birth, or shortly, after with manifestations of very slowly progressive or non-progressive gait and limb ataxia causing delayed walking and frequent falling in children. Mild developmental delay, learning difficulties, and language dysfunction are frequently reported. Other manifestations include nystagmus, dysarthria, dysmetria, and dysdiadochokinesia. SCA29 is due to mutations in the ITPR1 gene (3p26.1), which is equally the causal gene of SCA15. Inherited autosomal dominantly. 900000000000017005 +3303838014 20160731 1 900000000000207008 715826005 en 900000000000550004 Spinocerebellar ataxia type 31 (SCA31) is a very rare disease with manifestation of late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties. The mean age of disease onset is 58 years but it can present between the ages of 8 to 83 years. SCA31 is due to non-coding pentanucleotide repeat expansions in the brain expressed, associated with NEDD4, 1 (BEAN1) gene (16q21). Inherited autosomal dominantly with incomplete penetrance. 900000000000017005 +3303843019 20160731 1 900000000000207008 715827001 en 900000000000550004 Autosomal recessive dopa responsive dystonia (DYT5b) is a very rare neurometabolic disorder with a spectrum of symptoms ranging from those seen in dopa responsive dystonia to progressive infantile encephalopathy. Disease presents in infancy (most frequently in the first year of life) with a progressive hypokinetic rigid syndrome, involuntary jerky movements, postural tremor, or gait disturbances that may fluctuate during the day and show good or excellent responsiveness to levodopa in most cases. DYT5b is caused by mutations in the tyrosine hydroxylase TH gene (11p15.5). Inherited in an autosomal recessive manner. 900000000000017005 +3303847018 20160731 1 900000000000207008 715828006 en 900000000000550004 A rare congenital facial abnormality with manifestation of failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye. The disorder is therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. Also associated with other craniofacial abnormalities such as orbital anomalies and cleft lip/palate. 900000000000017005 +3303850015 20160731 1 900000000000207008 715829003 en 900000000000550004 A very rare circadian rhythm sleep disorder with main features of very early sleep onset and offset possibly resulting in emotional and physical disruptions. 900000000000017005 +3303892013 20160731 1 900000000000207008 715842003 en 900000000000550004 Attachment loss of greater than 2 millimeters between the gingival epithelium and the cementoenamel junction in the absence of infection or inflammation. 900000000000017005 +3303893015 20160731 1 900000000000207008 715842003 en 900000000000550004 Attachment loss of greater than 2 millimetres between the gingival epithelium and the cementoenamel junction in the absence of infection or inflammation. 900000000000017005 +3303899016 20160731 1 900000000000207008 715843008 en 900000000000550004 Acute separation of the periodontal tissue from the root by 1-2 millimeters of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3303900014 20160731 1 900000000000207008 715843008 en 900000000000550004 Acute separation of the periodontal tissue from the root by 1-2 millimetres of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3303949019 20160731 1 900000000000207008 715859008 en 900000000000550004 Acute separation of the periodontal tissue from the root by 3-4 millimeters of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3303950019 20160731 1 900000000000207008 715859008 en 900000000000550004 Acute separation of the periodontal tissue from the root by 3-4 millimetres of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3303956013 20160731 1 900000000000207008 715860003 en 900000000000550004 Acute separation of the periodontal tissue from the root by 5 millimeters or more of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3303957016 20160731 1 900000000000207008 715860003 en 900000000000550004 Acute separation of the periodontal tissue from the root by 5 millimetres or more of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3303961010 20160731 1 900000000000207008 715861004 en 900000000000550004 A mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. Clinical manifestations may include a waddling gait, genu valgum, hip pain and restricted movement, although these manifestations are usually transient and the majority of patients are asymptomatic. 900000000000017005 +3303962015 20160731 1 900000000000207008 715861004 en 900000000000550004 A mild localised form of skeletal dysplasia characterised by delayed, irregular ossification of femoral capital epiphysis. Clinical manifestations may include a waddling gait, genu valgum, hip pain and restricted movement, although these manifestations are usually transient and the majority of patients are asymptomatic. 900000000000017005 +3303965018 20160731 1 900000000000207008 715862006 en 900000000000550004 A rare spondyloepimetaphyseal dysplasia with the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features and normal intelligence. 900000000000017005 +3303971012 20160731 1 900000000000207008 715863001 en 900000000000550004 A rare form of idiopathic inflammatory myopathy with clinical manifestation of acute or subacute proximal muscle weakness and histopathological features of myocyte necrosis and regeneration without significant inflammation. The main presenting feature is subacute severe symmetrical proximal myopathy with a markedly elevated creatine kinase level. The course is often severe but may be self-limiting and recovery may occur within weeks to months of discontinuing the causative agent, if identified. The disease is thought to be related to an immune response possibly triggered by drug therapy, connective tissue diseases, or cancer. The exact mechanism underling the disorder is not known but some autoantibodies appear to be a likely cause. Malignancy may be involved. 900000000000017005 +3303976019 20160731 1 900000000000207008 715864007 en 900000000000550004 A rare copper-overload liver disease with rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency. Specific pathological aspects; pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining. 900000000000017005 +3303981011 20160731 1 900000000000207008 715865008 en 900000000000550004 Familial autosomal dominant form of arrhythmogenic right ventricular dysplasia, a heart muscle disease with life-threatening ventricular arrhythmias and left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks. 900000000000017005 +3303985019 20160731 1 900000000000207008 715866009 en 900000000000550004 A mild form of familial adenomatous polyposis with main features described as the presence of fewer than 100 adenomatous polyposis, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features. 900000000000017005 +3303989013 20160731 1 900000000000207008 715867000 en 900000000000550004 A developmental anomaly syndrome that resembles aminopterin embryopathy without history of exposure in utero to aminopterin. Main features include craniosynostosis, dysmorphic features including ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears.Limb anomalies include brachydactyly, syndactyly and clinodactyly. Also associated with mild-to-moderate intellectual deficit and short stature. 900000000000017005 +3303992012 20160731 1 900000000000207008 715868005 en 900000000000550004 A surgically correctable form of primary hyperaldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. May be associated with hypokalemia, which, when present, may be symptomatic with muscular weakness, cramps, paresthesia or palpitations with or without atrial fibrillation.The etiology is not known. Unilateral adrenalectomy abolishes aldosterone hypersecretion and hypokalemia in most patients. 900000000000017005 +3303993019 20160731 1 900000000000207008 715868005 en 900000000000550004 A surgically correctable form of primary hyperaldosteronism characterised by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. May be associated with hypokalaemia, which, when present, may be symptomatic with muscular weakness, cramps, paresthesia or palpitations with or without atrial fibrillation.The aetiology is not known. Unilateral adrenalectomy abolishes aldosterone hypersecretion and hypokalaemia in most patients. 900000000000017005 +3304018015 20160731 1 900000000000207008 715875006 en 900000000000550004 Flatiron Health US 900000000000017005 +3304018015 20170731 0 900000000000207008 715875006 en 900000000000550004 Flatiron Health US 900000000000017005 +3304046018 20160731 1 900000000000207008 715438008 en 900000000000550004 A multiple congenital anomaly/mental retardation contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The most common clinical features include pre and postnatal growth retardation, psychomotor retardation, facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, a broad nasal bridge, short nose, V-shaped mouth, and small, low-set and posteriorly rotated ears). 900000000000017005 +3304077016 20160731 1 900000000000207008 715899006 en 900000000000550004 A rare genetic skeletal disorder with clinical features of abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. 900000000000017005 +3304080015 20160731 1 900000000000207008 715900001 en 900000000000550004 An extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity. 900000000000017005 +3304083018 20160731 1 900000000000207008 715901002 en 900000000000550004 A rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis. 900000000000017005 +3304084012 20160731 1 900000000000207008 715901002 en 900000000000550004 A rare type of primitive neuroectodermal tumour (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis. 900000000000017005 +3304088010 20160731 1 900000000000207008 715902009 en 900000000000550004 Also known as shaky legs syndrome, this is a rare movement disorder with characteristics of fast, task-specific tremor, affecting the legs and trunk while standing. The prevalence is unknown. To date, around 390 cases have been reported in the literature. Women are predominantly affected (sex ratio: 2:1) with disease onset occurring in middle aged or elderly people. At present, the pathophysiology is unknown. The disorder is sporadic but exceptional familial cases have been reported. 900000000000017005 +3304096017 20160731 1 900000000000207008 715904005 en 900000000000550004 Describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. 900000000000017005 +3304097014 20160731 1 900000000000207008 715904005 en 900000000000550004 Describes a rare type of pineal parenchymal tumour (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. 900000000000017005 +3304100016 20160731 1 900000000000207008 715905006 en 900000000000550004 A cerebral cortical malformation with features of unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria. 900000000000017005 +3304107018 20160731 1 900000000000207008 715907003 en 900000000000550004 A very rare form of multiple endocrine neoplasia, an inherited cancer syndrome, with parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. Caused by heterozygous inactivating mutations in the CDKN1B gene (12p13.1-p12) encoding p27, a cyclin-dependent kinase inhibitor that acts as a negative regulator of cell cycle progression. Most cases are the result of autosomal dominant inheritance. Some cases of sporadic de novo occurrence are however reported. 900000000000017005 +3304108011 20160731 1 900000000000207008 715907003 en 900000000000550004 A very rare form of multiple endocrine neoplasia, an inherited cancer syndrome, with parathyroid and anterior pituitary tumours, possibly associated with adrenal, renal, and reproductive organ tumours. Caused by heterozygous inactivating mutations in the CDKN1B gene (12p13.1-p12) encoding p27, a cyclin-dependent kinase inhibitor that acts as a negative regulator of cell cycle progression. Most cases are the result of autosomal dominant inheritance. Some cases of sporadic de novo occurrence are however reported. 900000000000017005 +3304115015 20160731 1 900000000000207008 715908008 en 900000000000550004 A rare form of superficial corneal dystrophy with recurrent episodes of epithelial erosions from childhood in the absence of associated diseases. The erosions begin spontaneously or are precipitated by minor trauma, dust or smoke. The condition may become apparent by 6 months of age, but as a rule it only starts at 4 to 6 years of age. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Some experience a burning sensation and report sensitive eyes for years. Vision is sometimes impaired. Autosomal dominant pattern of inheritance. 900000000000017005 +3304169018 20160731 1 900000000000207008 715924009 en 900000000000550004 A condition in which a child is chronically irritable and experiences frequent, severe temper outbursts that seem grossly out of proportion to the situation. 900000000000017005 +3304226015 20160731 1 900000000000207008 715830008 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. Mutations in the promoter element of SLC16A1 leads to an inappropriate presence of monocarboxylic acid transporter 1(MCT1). Mutations of the promoter region of SLC16A1 that permit gene expression in pancreatic beta-cells identified to date are dominant. 900000000000017005 +3304227012 20160731 1 900000000000207008 715830008 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterised by episodes of hypoglycaemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypoglycaemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycaemia associated with exercise is variable and is only partially responsive to diazoxide. Mutations in the promoter element of SLC16A1 leads to an inappropriate presence of monocarboxylic acid transporter 1(MCT1). Mutations of the promoter region of SLC16A1 that permit gene expression in pancreatic beta-cells identified to date are dominant. 900000000000017005 +3304229010 20160731 1 900000000000207008 715950008 en 900000000000550004 A very rare variant of diffuse large B-cell lymphoma mainly affecting middle-aged immunocompetent men with features of a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis. 900000000000017005 +3304232013 20160731 1 900000000000207008 715951007 en 900000000000550004 A polymalformation syndrome with main features of agenesis of corpus callosum, distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. Craniofacial anomalies include macrocephaly with protruding forehead and occiput and hypertelorism. Distal anomalies of limbs include preaxial or postaxial polydactyly or polysyndactyly of toes and/or hands. The large majority of patients have intellectual deficit that is severe in 80% of cases. Mutations of the kinesin KIF7 (15q26.1) and the transcriptional activator GLI3 (7p14.1) genes are responsible for the disease. An autosomal recessive disease. 900000000000017005 +3304239016 20160731 1 900000000000207008 715952000 en 900000000000550004 The association of Waardenburg syndrome and Hirschsprung disease. Patients present in the neonatal period with pigmentary anomalies (including white forelock, white eyebrows and eyelashes, white skin patches and pigmentary anomalies of the irides) in association with intestinal obstruction. Neurosensorial deafness is common and early, and may be unilateral. Psychomotor development is normal. Three disease-causing genes have been identified so far: EDNRB (13q22.3) encoding the endothelin-B receptor, EDN3 (20q13.32) encoding an endothelin receptor ligand and SOX10 (22q13.1) encoding the SOX10 transcription factor. 900000000000017005 +3304305017 20160731 1 900000000000207008 715980003 en 900000000000550004 A rare neurometabolic disorder with features of seizures, progressive encephalopathy and lens dislocation. The prevalence is unknown but is very rare. Symptoms usually occur within the first week after birth with feeding difficulties, vomiting and seizures which are difficult to control. The majority of patients exhibit facial dysmorphism. The course is progressive, with spasticity, severe intellectual deficit, and microcephaly seen in survivors. Lens dislocation usually occurs late in infancy but has been observed as early as two months of age. A late onset form with a milder phenotype has also been described. Caused by a mutation in the SUOX gene (12q13.13). The disease follows an autosomal recessive pattern of inheritance. 900000000000017005 +3304308015 20160731 1 900000000000207008 715981004 en 900000000000550004 Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development with features of reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. It is more common in specific populations, e.g. northern Pakistanis. Consanguinity appears to play a role in incidence. Patients have a reduction in head circumference at birth of at least 2 standard deviations below ethnically matched, age- and sex-related mean values. Caused by mutations in MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, STIL, CEP63, CEP135 , CASC5 and PHC1. These mutations appear to lead to reduced generation of cerebral cortical neurons during embryonic neurogenesis. Inheritance is autosomal recessive. 900000000000017005 +3304314010 20160731 1 900000000000207008 715982006 en 900000000000550004 A type of severe combined immunodeficiency disease characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive. 900000000000017005 +3304315011 20160731 1 900000000000207008 715982006 en 900000000000550004 A type of severe combined immunodeficiency disease characterised by severe and recurrent infections, diarrhoea, failure to thrive, and cell sensitivity to ionising radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive. 900000000000017005 +3304319017 20160731 1 900000000000207008 715983001 en 900000000000550004 A rare chromosomal anomaly from a variable part of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome. 900000000000017005 +3304323013 20160731 1 900000000000207008 715984007 en 900000000000550004 A very rare autosomal recessive and slowly progressive neurodegenerative disorder with the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). 900000000000017005 +3304329012 20160731 1 900000000000207008 715985008 en 900000000000550004 A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Affected individuals typically have an unusually flat, underdeveloped midface, with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a 'reverse overbite'' (or class III malocclusion). Hypoplasia of distal phalanges of fingers was reported in some cases. The pathogenesis remains uncertain, most reported cases were sporadic. 900000000000017005 +3304329012 20210930 0 900000000000207008 715985008 en 900000000000550004 A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Affected individuals typically have an unusually flat, underdeveloped midface, with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a 'reverse overbite'' (or class III malocclusion). Hypoplasia of distal phalanges of fingers was reported in some cases. The pathogenesis remains uncertain, most reported cases were sporadic. 900000000000017005 +3304334011 20160731 1 900000000000207008 715986009 en 900000000000550004 The association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Only four cases have been reported in the literature so far. The mode of inheritance remains to be confirmed, but both autosomal dominant and recessive transmission have been considered. 900000000000017005 +3304338014 20160731 1 900000000000207008 715987000 en 900000000000550004 A very rare syndrome described in three siblings of one Japanese family with main features of congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. 900000000000017005 +3304341017 20160731 1 900000000000207008 715988005 en 900000000000550004 This syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. 900000000000017005 +3304342012 20160731 1 900000000000207008 715988005 en 900000000000550004 This syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous haemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. 900000000000017005 +3304347018 20160731 1 900000000000207008 715989002 en 900000000000550004 This syndrome has main feature of congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. It has been described in three siblings born to nonconsanguineous parents. It is likely to be transmitted as an autosomal recessive trait. 900000000000017005 +3304353018 20160731 1 900000000000207008 715990006 en 900000000000550004 This syndrome has features of infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy also reported. It has been described in four patients from two families. 900000000000017005 +3304354012 20160731 1 900000000000207008 715991005 en 900000000000550004 A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth. 900000000000017005 +3304355013 20160731 1 900000000000207008 715991005 en 900000000000550004 A very rare syndrome characterised by poorly mineralised calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth. 900000000000017005 +3304358010 20160731 1 900000000000207008 715992003 en 900000000000550004 This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children. 900000000000017005 +3304359019 20160731 1 900000000000207008 715992003 en 900000000000550004 This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children 900000000000017005 +3304385015 20160731 1 900000000000207008 716004000 en 900000000000550004 Magnetic resonance imaging employs a technique to measure the mechanical properties (elasticity) of tissue by quantitatively assessing the propagation of mechanical waves through the tissue. 900000000000017005 +3304391018 20160731 1 900000000000207008 716005004 en 900000000000550004 Diethylstilbestrol (DES) syndrome is a set of signs reported in offspring (children and grandchildren) of women exposed to DES during pregnancy with manifestations of reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. 900000000000017005 +3304395010 20160731 1 900000000000207008 716006003 en 900000000000550004 A very rare malformation with main features of ectrodactyly of the hand and ipsilateral bifurcation of the femur. Approximately 200 cases have been reported worldwide. Congenital aplasia/hypoplasia of the tibia, accompanied by pre-axial oligodactyly or monodactyly of the feet, may also be present. In most cases, the bifurcation of the distal femur is unilateral. Patients are often small. Autosomal dominant and autosomal recessive modes of transmission have been suggested. 900000000000017005 +3304400011 20160731 1 900000000000207008 716007007 en 900000000000550004 This syndrome is characterized by cleft lip and palate, profound sensorineural deafness and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings include appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. 900000000000017005 +3304401010 20160731 1 900000000000207008 716007007 en 900000000000550004 This syndrome is characterised by cleft lip and palate, profound sensorineural deafness and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings include appendages on the heel and thigh, or anterior sacral meningocoele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. 900000000000017005 +3304405018 20160731 1 900000000000207008 716008002 en 900000000000550004 A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback. 900000000000017005 +3304406017 20160731 1 900000000000207008 716008002 en 900000000000550004 A rare autosomal dominant disorder characterised by a generalised enlargement of the gingiva occurring at birth or during childhood that is associated with generalised hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback. 900000000000017005 +3304455014 20160731 1 900000000000207008 716020005 en 900000000000550004 Congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother. In infants of women with established insulin-dependent diabetes mellitus, the risk of congenital malformations is 10 times higher than that in the general population, and the rate of stillbirths is five times higher than that in the general population. Macrosomia is also a common problem among infants of women with established insulin-dependent diabetes mellitus. Excess mortality among infants of women with preexisting insulin-dependent diabetes mellitus is predominantly due to congenital malformations. 900000000000017005 +3304465015 20160731 1 900000000000207008 716022002 en 900000000000550004 Rare disorder with features of multiple craniofacial anomalies; brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes. The syndrome is inherited in an autosomal recessive manner. 900000000000017005 +3304469014 20160731 1 900000000000207008 716023007 en 900000000000550004 A very rare syndrome described in two siblings with manifestation of prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. 900000000000017005 +3304474018 20160731 1 900000000000207008 716024001 en 900000000000550004 An extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. 900000000000017005 +3304687016 20160731 1 900000000000207008 716088000 en 900000000000550004 A very rare disorder reported in three children of consanguineous parents with manifestation of follicular hamartoma, senile facies, partial alopecia, and hypohidrosis, severely delayed growth, skin hyperelasticity and cystic fibrosis. There have been no further descriptions in the literature since 1995. 900000000000017005 +3304687016 20190731 0 900000000000207008 716088000 en 900000000000550004 A very rare disorder reported in three children of consanguineous parents with manifestation of follicular hamartoma, senile facies, partial alopecia, and hypohidrosis, severely delayed growth, skin hyperelasticity and cystic fibrosis. There have been no further descriptions in the literature since 1995. 900000000000017005 +3304692019 20160731 1 900000000000207008 716089008 en 900000000000550004 The association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. So far, it has been described in three males (including two brothers). An autosomal recessive mode of transmission has been suggested. 900000000000017005 +3304696016 20160731 1 900000000000207008 716090004 en 900000000000550004 This syndrome has manifestation of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p. 900000000000017005 +3304700012 20160731 1 900000000000207008 716091000 en 900000000000550004 Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Incidence is unknown. Dysmorphic features include hypotelorism, severe eye anomalies such as microphthalmia or anophthalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor. 900000000000017005 +3304704015 20160731 1 900000000000207008 716092007 en 900000000000550004 This syndrome has manifestation of symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. 900000000000017005 +3304712011 20160731 1 900000000000207008 716094008 en 900000000000550004 This syndrome has features of fibuloulnar dysostosis with renal anomalies. It has been described in two siblings born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. 900000000000017005 +3304723010 20160731 1 900000000000207008 716097001 en 900000000000550004 This syndrome has features of ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant. 900000000000017005 +3304723010 20190731 0 900000000000207008 716097001 en 900000000000550004 This syndrome has features of ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant. 900000000000017005 +3304726019 20160731 1 900000000000207008 716098006 en 900000000000550004 A congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae. Prevalence is unknown. It manifests at radiography as posteromedial bowing with cortical thickening along the concavity of the curvature and, in some cases, diaphyseal broadening. Bowing of the long bones can be detected on antenatal ultrasound screening, but it is a nonspecific sign that can be associated with a variety of conditions, whose recognition is important for differentiating those that will resolve spontaneously from those that require surgery or other treatment. 900000000000017005 +3304729014 20160731 1 900000000000207008 716099003 en 900000000000550004 A very rare syndromic limb malformation described in two distantly related boys. Its features are described as absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed. 900000000000017005 +3304752013 20160731 1 900000000000207008 716105001 en 900000000000550004 This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13. 900000000000017005 +3304756011 20160731 1 900000000000207008 716106000 en 900000000000550004 Limb body wall complex (LBWC) is a syndrome with features of severe multiple congenital anomalies. Clinical manifestations vary widely and include limb defects and visceral malformations, spinal abnormalities, absent diaphragm, bowel atresia and renal agenesis. Karyotypes have been reported as normal and no correlations with gender, parental age and teratogenic agents have been found. The principal theories are an extrinsic origin by early amniotic rupture, or a vascular origin due to an early vascular accident during embryological development. Single cases of familial occurrence have been documented. LBWC is fatal, with death occurring antenatally or early in the neonatal period. 900000000000017005 +3304761013 20160731 1 900000000000207008 716107009 en 900000000000550004 A basal ganglia disorder with manifestation of parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter. 900000000000017005 +3304765016 20160731 1 900000000000207008 716108004 en 900000000000550004 A rare syndrome with features of multiple congenital anomalies with macrocephaly (of post-natal onset), large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. 900000000000017005 +3304771010 20160731 1 900000000000207008 716110002 en 900000000000550004 This syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. This syndrome has been reported in two siblings. The inheritance is probably autosomal recessive. 900000000000017005 +3304774019 20160731 1 900000000000207008 716111003 en 900000000000550004 Syndrome with the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant. 900000000000017005 +3304778016 20160731 1 900000000000207008 716112005 en 900000000000550004 This syndrome has manifestations of microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. 900000000000017005 +3304791015 20160731 1 900000000000207008 716117004 en 900000000000550004 Anatomical variation from normal tooth structure in shape, form or location. 900000000000017005 +3304802010 20160731 1 900000000000207008 716105001 en 900000000000550004 This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localized to chromosome 12q11-q13. 900000000000017005 +3304836016 20160731 1 900000000000207008 716131004 en 900000000000550004 The angle formed by the intersection of the line connecting points A and B and the line connecting N and Pogonion (facial line). The angle can be of a positive value in a patient with Class II skeletal pattern and a negative value in the case of class III skeletal pattern. 900000000000017005 +3304840013 20160731 1 900000000000207008 716132006 en 900000000000550004 A landmark point defined as the tip of the bony anterior nasal spine at the inferior margin of the piriform aperture, in the midsagittal plane. 900000000000017005 +3304844016 20160731 1 900000000000207008 716133001 en 900000000000550004 An anatomical plane in cephalometry, a line extending from nasion (the intersection of the internasal and frontonasal sutures, in the midsagittal plane) to pogonion (the most anterior point on the contour). 900000000000017005 +3304848018 20160731 1 900000000000207008 716134007 en 900000000000550004 The pterygomaxillary fissure (PTM) is a bilateral radiolucent structure seen on 2D radiographs. The anterior border represents the posterior surfaces of the tuberosities of the maxilla. The landmark is taken at the most inferior point of the fissure. The fissure is an anatomic structure, but PTM is a point. 900000000000017005 +3304852018 20160731 1 900000000000207008 716135008 en 900000000000550004 The tip of the crown of the most anterior maxillary incisor. 900000000000017005 +3304943011 20160731 1 900000000000207008 716165003 en 900000000000550004 This syndrome has features of microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family. 900000000000017005 +3304943011 20200131 0 900000000000207008 716165003 en 900000000000550004 This syndrome has features of microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family. 900000000000017005 +3304946015 20160731 1 900000000000207008 716166002 en 900000000000550004 This syndrome has features of microcornea, glaucoma and absent frontal sinuses. Less than 10 cases have been described so far. The mode of transmission appears to be autosomal dominant. 900000000000017005 +3304954018 20160731 1 900000000000207008 716169009 en 900000000000550004 An extremely rare fatal central nervous system malformation occurring during embryogenesis presenting prenatally on the ultrasound with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures, intrauterine growth restriction. An X-linked recessive inheritance has been suggested. 900000000000017005 +3304959011 20160731 1 900000000000207008 716170005 en 900000000000550004 Nathalie syndrome has characteristics of deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother. 900000000000017005 +3304967015 20160731 1 900000000000207008 716172002 en 900000000000550004 Oculocerebral dysplasia combines bilateral microphthalmia (or the association of microphthalmia and cryptophthalmus) and unilateral optic nerve aplasia. Two cases have been reported, a girl and her brother. A Dandy-Walker cyst was also present in one case. Transmission appears to be autosomal recessive. 900000000000017005 +3304973019 20160731 1 900000000000207008 716174001 en 900000000000550004 A rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. 900000000000017005 +3304974013 20160731 1 900000000000207008 716174001 en 900000000000550004 A rare congenital syndrome characterised by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anaemia, and/or nystagmus. 900000000000017005 +3304980017 20160731 1 900000000000207008 716869006 en 900000000000550004 A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. Over 140 cases have been reported in the world. Disease onset usually occurs in patients before the age of 12 with the appearance of BCG disease, usually after receiving the vaccination. Over half of patients with this variant experience an additional infection with non-typhoidal Salmonella. Caused by mutations in the IL12RB1 gene (19p13.1) subunit that encodes for the IL-12R-beta1 chain. These mutations impair the IL-12/IL-23 pathway essential for production of IFN-beta and the resulting immunity against Salmonella and BCG infections. Inherited in an autosomal recessive manner. 900000000000017005 +3304993010 20160731 1 900000000000207008 716180009 en 900000000000550004 Odontoma-dysphagia syndrome is a malformation syndrome, with characteristics of odontomas and severe dysphagia. Less than ten cases have been reported so far. Three of the reported patients manifested multiple odontomas. Occasionally, cardiac, renal and hepatic involvement has been described. In several cases, autosomal dominant inheritance has been suspected. Currently, there are no genes associated with this condition. 900000000000017005 +3305005016 20160731 1 900000000000207008 716183006 en 900000000000550004 Periodontitis caused by the anatomic shape of the dental restoration and not the substance used. 900000000000017005 +3305026016 20160731 1 900000000000207008 716189005 en 900000000000550004 This syndrome has characteristics of osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family. 900000000000017005 +3305035011 20160731 1 900000000000207008 716191002 en 900000000000550004 An extremely rare syndrome described in less than 20 families to date and has characteristics of total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. 900000000000017005 +3305039017 20160731 1 900000000000207008 716192009 en 900000000000550004 This syndrome has characteristics of short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). It has been described in two siblings. 900000000000017005 +3305042011 20160731 1 900000000000207008 716193004 en 900000000000550004 This syndrome has characteristics of severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. 900000000000017005 +3305045013 20160731 1 900000000000207008 716194005 en 900000000000550004 This syndrome has characteristics of growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. 900000000000017005 +3305051015 20160731 1 900000000000207008 716195006 en 900000000000550004 An exceedingly rare form of brachyolmia with characteristics of mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. 900000000000017005 +3305054011 20160731 1 900000000000207008 716196007 en 900000000000550004 A genetic disorder with characteristics of the appearance of numerous cysts spread throughout the liver. Women are predominantly affected and have a larger number of cysts than affected males. Cysts are undetectable early in life and usually appear after the age of 40 years. Their number and size increases with age. Symptoms depend on the mass (compression effect) some patients are asymptomatic. Liver function is usually normal. There is no portal hypertension. Extrahepatic manifestations are very rare and may include intracranial aneurysms (usually small sized and at a low risk of rupture) and mitral leaflet abnormalities. Liver cysts result from overgrowth of biliary epithelium or from dilatation of peribiliary glands. Some cases occur sporadically, but most are inherited as an autosomal dominant trait. 900000000000017005 +3305058014 20160731 1 900000000000207008 716197003 en 900000000000550004 A rare pterygium inherited autosomal dominantly, which develops in early adulthood. With characteristics of a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision. 900000000000017005 +3305062015 20160731 1 900000000000207008 716198008 en 900000000000550004 A rare developmental disorder described in 4 siblings so far. Main characteristics include delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, shortness of lower limbs, bowed tibias and foot deformities. 900000000000017005 +3305066017 20160731 1 900000000000207008 716199000 en 900000000000550004 This syndrome is extremely rare and has characteristics of delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. To date, six cases have been reported in five families. Dysmorphic features include asymmetrical face, unilateral narrow palpebral fissure, divergent strabismus, long philtrum, high-arched palate, apparently low-set ears and transverse ear lobe creases on both sides. Delayed language development is constant but intellectual development can be normal. In one family, the transmission was compatible with either autosomal dominant or X-linked dominant inheritance. 900000000000017005 +3305070013 20160731 1 900000000000207008 716200002 en 900000000000550004 This syndrome has characteristics of nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. It has been described in two siblings. 900000000000017005 +3305084015 20160731 1 900000000000207008 717031005 en 900000000000550004 Ministry of Health, Social Services and Equality (Spain) 900000000000017005 +3305084015 20170731 0 900000000000207008 717031005 en 900000000000550004 Ministry of Health, Social Services and Equality (Spain) 900000000000017005 +3305154013 20160731 1 900000000000207008 716230005 en 900000000000550004 A very rare inherited malformation syndrome with characteristics of omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. 900000000000017005 +3305157018 20160731 1 900000000000207008 716231009 en 900000000000550004 Rare syndrome with characteristics of camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. This syndrome has been described in five members from three generations of one family. Inheritance is thought to be autosomal dominant or autosomal recessive with pseudodominance. 900000000000017005 +3305161012 20160731 1 900000000000207008 716232002 en 900000000000550004 A very rare and mild form of spondylocostal dysostosis with characteristics of vertebral and costal segmentation defects, often with a reduction in the number of ribs. 900000000000017005 +3305164016 20160731 1 900000000000207008 716233007 en 900000000000550004 This syndrome has characteristics of holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. It has been described in two families (with at least seven affected persons). Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula. Inheritance is likely to be autosomal dominant with variable expressivity. 900000000000017005 +3305177013 20160731 1 900000000000207008 716238003 en 900000000000550004 This syndrome has characteristics of sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). It has been described in two brothers born to consanguineous parents. They also have dysmorphic features (triangular face, pointed chin) and bilateral obstruction of lacrimal ducts. This syndrome is transmitted as an autosomal recessive trait. 900000000000017005 +3305201015 20160731 1 900000000000207008 716239006 en 900000000000550004 This syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatraemia. It has been described in two brothers. Transmission appeared to be autosomal recessive. 900000000000017005 +3305202010 20160731 1 900000000000207008 716239006 en 900000000000550004 This syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. 900000000000017005 +3305216017 20160731 1 900000000000207008 716243005 en 900000000000550004 This syndrome has characteristics of profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. 900000000000017005 +3305222014 20160731 1 900000000000207008 716245003 en 900000000000550004 This syndrome has characteristics of the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. 900000000000017005 +3305236016 20160731 1 900000000000207008 716248001 en 900000000000550004 Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive. 900000000000017005 +3305240013 20160731 1 900000000000207008 716249009 en 900000000000550004 An extremely rare mostly lethal congenital disorder with characteristics of absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of Middle Eastern descent. 900000000000017005 +3305368010 20160731 1 900000000000207008 716277000 en 900000000000550004 This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhoea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet. 900000000000017005 +3305369019 20160731 1 900000000000207008 716277000 en 900000000000550004 This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet. 900000000000017005 +3305372014 20160731 1 900000000000207008 716278005 en 900000000000550004 Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. Onset occurs in childhood, with a peak at 6-8 years of age. Eyelid myoclonia is the principle clinical feature and may or may not be associated with brief (less than 6) absences. The etiology is unknown but Jeavons syndrome appears to be genetically determined. 900000000000017005 +3305373016 20160731 1 900000000000207008 716278005 en 900000000000550004 Jeavons syndrome is an idiopathic generalised form of reflex epilepsy characterised by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalised tonic-clonic seizures. Onset occurs in childhood, with a peak at 6-8 years of age. Eyelid myoclonia is the principle clinical feature and may or may not be associated with brief (less than 6) absences. The aetiology is unknown but Jeavons syndrome appears to be genetically determined. 900000000000017005 +3305378013 20160731 1 900000000000207008 716279002 en 900000000000550004 Polyrrhinia is an extremely rare, major congenital malformation with characteristic of complete duplication of the nose resulting in two fully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair. 900000000000017005 +3305382010 20160731 1 900000000000207008 716280004 en 900000000000550004 Tubular duplication of the esophagus is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children. 900000000000017005 +3305383017 20160731 1 900000000000207008 716280004 en 900000000000550004 Tubular duplication of the oesophagus is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true oesophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children. 900000000000017005 +3305387016 20160731 1 900000000000207008 716281000 en 900000000000550004 A form of frontotemporal dementia with characteristics of agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. Language comprehension is relatively preserved. 900000000000017005 +3305470017 20160731 1 900000000000207008 716305005 en 900000000000550004 A process that reduces the level of inorganic precipitate within the organic matrix in the enamel and dentin of the tooth. 900000000000017005 +3305506012 20160731 1 900000000000207008 716318002 en 900000000000550004 Patients and families with a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or the EPCAM gene but have not met criterial for hereditary nonpolyposis colon cancer. 900000000000017005 +3305506012 20180131 0 900000000000207008 716318002 en 900000000000550004 Patients and families with a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or the EPCAM gene but have not met criterial for hereditary nonpolyposis colon cancer. 900000000000017005 +3305545019 20160731 1 900000000000207008 716334004 en 900000000000550004 This syndrome has characteristics of intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. 900000000000017005 +3305549013 20160731 1 900000000000207008 716335003 en 900000000000550004 A form of cerebral palsy with characteristics of congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. Mean age at diagnosis is 6 years. The main clinical features are spasticity and limited movements around the mouth and throat from an early age, and brisk jaw jerks. Most cases are sporadic but several families with more than one affected member have been reported. Inheritance in these families appeared to follow an autosomal dominant pattern with variable expression and penetrance. 900000000000017005 +3305552017 20160731 1 900000000000207008 716336002 en 900000000000550004 A rare inherited bone marrow failure syndrome with manifestation of an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive. 900000000000017005 +3305555015 20160731 1 900000000000207008 716337006 en 900000000000550004 This syndrome has characteristics of facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. 900000000000017005 +3305568011 20160731 1 900000000000207008 716338001 en 900000000000550004 A rare disorder with characteristics of pseudohypertrophy of muscles due to longstanding hypothyroidism. Prevalence is unknown. The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Hypothyroidism, or thyroid hormone deficiency, may be congenital and may be permanent or transient. 900000000000017005 +3305706014 20160731 1 900000000000207008 230314007 en 900000000000550004 A paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. The prevalence is unknown. Onset usually occurs during infancy or early childhood. The dystonic movements are characterised by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. The dystonic movements are clearly associated with gastro-oesophageal reflux but the pathophysiological mechanism is not clearly understood. 900000000000017005 +3305707017 20160731 1 900000000000207008 230314007 en 900000000000550004 A paroxysmal dystonic movement disorder occurring in association with gastro-esophageal reflux, and, in some cases, hiatal hernia. The prevalence is unknown. Onset usually occurs during infancy or early childhood. The dystonic movements are characterized by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. The dystonic movements are clearly associated with gastro-esophageal reflux but the pathophysiological mechanism is not clearly understood. 900000000000017005 +3305736017 20160731 1 900000000000207008 716378008 en 900000000000550004 A very rare, severe, genetic, combined immunodeficiency disorder with characteristics of lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. 900000000000017005 +3305740014 20160731 1 900000000000207008 716379000 en 900000000000550004 Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality with manifestations of jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. 900000000000017005 +3305743011 20160731 1 900000000000207008 716380002 en 900000000000550004 A form of primary progressive aphasia with characteristics of impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge. 900000000000017005 +3305747012 20160731 1 900000000000207008 716381003 en 900000000000550004 A partial deletion of the short arm of chromosome 8 with manifestations of low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. The prevalence is unknown but 8p23.1 deletions are rare. The clinical manifestations are variable and do not depend on the size of the deletion, since this is the same in the majority of patients. Most 8p23.1 deletions occur de novo, however, parents can carry and transmit the chromosomal rearrangement to their children as well, with a risk of 50% for each child. 900000000000017005 +3305838012 20160731 1 900000000000207008 5911000124102 en 900000000000550004 The plane along the cutting edge of an incisor. 900000000000017005 +3305898010 20160731 1 900000000000207008 716387004 en 900000000000550004 A well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. It has been reported in 20 patients. Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs. 900000000000017005 +3305899019 20160731 1 900000000000207008 716387004 en 900000000000550004 A well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. It has been reported in 20 patients. Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs. 900000000000017005 +3306040010 20160731 1 900000000000207008 716456000 en 900000000000550004 A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. It has been described in 23 patients. The clinical phenotype is extremely variable. The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly rotated ears and high nasal bridge. Autism and gait ataxia have been noted occasionally. The syndrome is caused by a recurrent deletion of the 3q subtelomeric region. Most of the deletions appear de novo but a few of them were inherited from mildly or non-affected parents. 900000000000017005 +3306163015 20160731 1 900000000000207008 716515000 en 900000000000550004 A chromosomal anomaly with characteristics of severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. 900000000000017005 +3306198017 20160731 1 900000000000207008 716530009 en 900000000000550004 Staphylococcus aureus resistant to methicillin (oxacillin) but resistant to fewer other drug classes than the multiple drug resistant MRSA strains. Oxacillin (or cefoxitin) represents all other β-lactams (and cephamycins) and resistance to either of these predicts non-susceptibility to all categories of β-lactam antimicrobials i.e. all categories of penicillins, cephalosporins, β-lactamase inhibitors and carbapenems. 900000000000017005 +3306202015 20160731 1 900000000000207008 716531008 en 900000000000550004 Staphylococcus aureus resistant to methicillin (oxacillin), therefore non-susceptibility to all categories of β-lactam antimicrobials i.e. all categories of penicillins, cephalosporins, β-lactamase inhibitors and carbapenems. In addition resistant to other classes of antimicrobial drugs such as aminoglycosides, ansamycins, fluoroquinolones, folate pathway inhibitors, fucidanes, glycopeptides, glycylcyclines, lincosamides, lipopeptides, macrolides, oxazolidinones, phenicols, phosphonic acids, streptogramins, and tetracycline. 900000000000017005 +3306264016 20160731 1 900000000000207008 718175009 en 900000000000550004 A rare systemic inflammatory disease associated with long-lasting biopersistance of post-vaccinal aluminic granulomas. More than 600 cases have been reported to date, most of them in France. This is probably due to large-scale vaccination with aluminum-containing vaccines in France during the 1990s. The disease generally manifests with myalgias of variable intensity, and is usually associated with weakness and chronic fatigue. Belongs to the group of Autoimmune/inflammatory Syndromes Induced by Adjuvants (ASIA): it is triggered, probably in genetically predisposed patients, by injection of vaccines containing aluminum hydroxide and may occur up to 10 years following vaccination. 900000000000017005 +3306265015 20160731 1 900000000000207008 718175009 en 900000000000550004 A rare systemic inflammatory disease associated with long-lasting biopersistance of post-vaccinal aluminic granulomas. More than 600 cases have been reported to date, most of them in France. This is probably due to large-scale vaccination with aluminium-containing vaccines in France during the 1990s. The disease generally manifests with myalgias of variable intensity, and is usually associated with weakness and chronic fatigue. Belongs to the group of Autoimmune/inflammatory Syndromes Induced by Adjuvants (ASIA): it is triggered, probably in genetically predisposed patients, by injection of vaccines containing aluminium hydroxide and may occur up to 10 years following vaccination. 900000000000017005 +3306284017 20160731 1 900000000000207008 12265261000119102 en 900000000000550004 The spontaneous self-limiting hygroma of infancy. 900000000000017005 +3306404017 20160731 1 900000000000207008 716855006 en 900000000000550004 A rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and occasionally Cushing syndrome. 900000000000017005 +3306405016 20160731 1 900000000000207008 716855006 en 900000000000550004 A rare malignant sex cord stromal tumour of ovary of unknown histological lineage, occurring in adult women, characterised, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhoea, or oligomenorrhoea) and occasionally Cushing syndrome. 900000000000017005 +3306465018 20160731 1 900000000000207008 718465002 en 900000000000550004 Clinical stage 0 is used to record the tumor stage based on clinical assessment (not pathological assessment). A patient with stage 0 would not have invasive cancer. 900000000000017005 +3306466017 20160731 1 900000000000207008 718465002 en 900000000000550004 Clinical stage 0 is used to record the tumour stage based on clinical assessment (not pathological assessment). A patient with stage 0 would not have invasive cancer. 900000000000017005 +3306604012 20160731 1 900000000000207008 715963002 en 900000000000550004 The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features. 900000000000017005 +3306651014 20160731 1 900000000000207008 716565009 en 900000000000550004 Sexual exploitation is a form of sexual abuse. Sexual exploitation of children and young people under 18 involves exploitative situations, contexts and relationships where young people receive something for example drugs, alcohol, accommodation as a result of them performing or others performing on them, sexual activities. In sexual exploitation there is financial gain from abuse. 900000000000017005 +3306687019 20160731 1 900000000000207008 715850007 en 900000000000550004 Dynamic studies where sections are obtained in rapid succession at a given level during forced expiration. 900000000000017005 +3306711019 20160731 1 900000000000207008 716584007 en 900000000000550004 Caused by the Chapare virus discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004. An acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death. 900000000000017005 +3306712014 20160731 1 900000000000207008 716584007 en 900000000000550004 Caused by the Chapare virus discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004. An acute viral haemorrhagic fever characterised by fever, myalgia, arthralgia, and multiple haemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death. 900000000000017005 +3306720011 20160731 1 900000000000207008 716585008 en 900000000000550004 Caused by the Lujo virus, a zoonotic disease from Zambia, Africa, whose reservoir is unknown. Characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% and a moderate to high level of nosocomial transmission. 900000000000017005 +3306721010 20160731 1 900000000000207008 716585008 en 900000000000550004 Caused by the Lujo virus, a zoonotic disease from Zambia, Africa, whose reservoir is unknown. Characterised by fever and haemorrhagic manifestations with an extremely high fatality rate of 80% and a moderate to high level of nosocomial transmission. 900000000000017005 +3306724019 20160731 1 900000000000207008 716586009 en 900000000000550004 A rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, with characteristics of latent Epstein-Barr Virus infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively good prognosis. 900000000000017005 +3306741017 20160731 1 900000000000207008 5801000124106 en 900000000000550004 An anatomic point; the extreme superior point of the condyle. 900000000000017005 +3306756014 20160731 1 900000000000207008 5891000124104 en 900000000000550004 The lowest point on the inferior orbital margin (bilateral). 900000000000017005 +3306777012 20160731 1 900000000000207008 716588005 en 900000000000550004 A rare ovarian germ cell malignant tumor arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin. It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma. 900000000000017005 +3306778019 20160731 1 900000000000207008 716588005 en 900000000000550004 A rare ovarian germ cell malignant tumour arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterised by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin. It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma. 900000000000017005 +3306785015 20160731 1 900000000000207008 716590006 en 900000000000550004 A rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures. 900000000000017005 +3306786019 20160731 1 900000000000207008 716590006 en 900000000000550004 A rare and benign but locally aggressive fibrovascular tumour arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures. 900000000000017005 +3306791018 20160731 1 900000000000207008 716592003 en 900000000000550004 A rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. 900000000000017005 +3306792013 20160731 1 900000000000207008 716592003 en 900000000000550004 A rare slow growing neuronal tumour seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. 900000000000017005 +3306797019 20160731 1 900000000000207008 716593008 en 900000000000550004 Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. 900000000000017005 +3306824013 20160731 1 900000000000207008 5971000124106 en 900000000000550004 An anatomic point; the point midway between the two posterior borders of the left and right mandibular rami at the intersection with the basilar portion of the occipital bone. 900000000000017005 +3306825014 20160731 1 900000000000207008 5931000124108 en 900000000000550004 Gonion is the most posterior inferior point on the outline of the angle of the mandible. 900000000000017005 +3306828011 20160731 1 900000000000207008 5901000124100 en 900000000000550004 The outer point of the intersection between the nasion-sella line and the soft tissue profile. 900000000000017005 +3306830013 20160731 1 900000000000207008 5951000124101 en 900000000000550004 The most anterior point on the frontonasal suture. The intersection of the internasal and frontonasal sutures in the midsagittal plane. 900000000000017005 +3306835015 20160731 1 900000000000207008 5781000124107 en 900000000000550004 The most superior anterior point on the mandibular alveolar process between the central incisors (midsagittal). 900000000000017005 +3306837011 20160731 1 900000000000207008 5961000124104 en 900000000000550004 The most inferior point of the mandibular symphysis, in the midsagittal plane. 900000000000017005 +3306838018 20160731 1 900000000000207008 5921000124105 en 900000000000550004 The innermost point on the contour of the premaxilla between anterior nasal spine and the incisor tooth. 900000000000017005 +3306839014 20160731 1 900000000000207008 5981000124109 en 900000000000550004 An anatomic plane in cephalometry; the highest point on the upper margin of the opening of each external auditory canal and the low point on the lower margin of the left orbit, used to orient a human skull or head usually so that the plane is horizontal. 900000000000017005 +3306841010 20160731 1 900000000000207008 5821000124101 en 900000000000550004 An anatomic point; the most anterior point on the mandibular symphysis. 900000000000017005 +3306864012 20160731 1 900000000000207008 5871000124100 en 900000000000550004 The incisal tip of the most labially placed maxillary central incisor. 900000000000017005 +3306865013 20160731 1 900000000000207008 5861000124107 en 900000000000550004 The mesial contact point of the mandibular first permanent molar. 900000000000017005 +3306866014 20160731 1 900000000000207008 5941000124103 en 900000000000550004 The deepest midline point on the bony curvature of the anterior mandible, between infradentale and pogonion. 900000000000017005 +3306870018 20160731 1 900000000000207008 5811000124109 en 900000000000550004 The most superior point on the anatomical external auditory meatus. 900000000000017005 +3306903016 20160731 1 900000000000207008 5791000124105 en 900000000000550004 The lowest midline point of the upper lip. 900000000000017005 +3306904010 20160731 1 900000000000207008 5881000124102 en 900000000000550004 The highest midline point of the lower lip. 900000000000017005 +3306929016 20160731 1 900000000000207008 5851000124105 en 900000000000550004 The bony contour of the angle of the mandible, a line not a point. 900000000000017005 +3307064015 20160731 1 900000000000207008 716647001 en 900000000000550004 A type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and in some cases subarachnoid haemorrhage. 900000000000017005 +3307065019 20160731 1 900000000000207008 716647001 en 900000000000550004 A type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and in some cases subarachnoid hemorrhage. 900000000000017005 +3307068017 20160731 1 900000000000207008 716648006 en 900000000000550004 A rare primary malignant hepatic neoplasm of childhood that is mesenchymal in origin. It can rarely occur in adults. It has manifestations of abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache. 900000000000017005 +3307074017 20160731 1 900000000000207008 716649003 en 900000000000550004 A rare malignant tumor of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumor develops in the peritoneum and spreads to the abdomen, pelvis and ovaries.Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site. 900000000000017005 +3307075016 20160731 1 900000000000207008 716649003 en 900000000000550004 A rare malignant tumour of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumour develops in the peritoneum and spreads to the abdomen, pelvis and ovaries. Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site. 900000000000017005 +3307080013 20160731 1 900000000000207008 716650003 en 900000000000550004 A rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses. It occurs more frequently in women of child-bearing age. In women, the masses are generally located on the peritoneal surface of the uterus and rectum, while in men they are generally located on the peritoneal surface of the bladder and rectum. The tumor can also spread into the upper portions of the peritoneal cavity. Appears to originate from the peritoneal mesothelium.There is no relation with asbestos exposure. Invasive or malignant progression has been described. 900000000000017005 +3307081012 20160731 1 900000000000207008 716650003 en 900000000000550004 A rare benign tumour characterised by the formation of intra-abdominal multilocular cystic masses. It occurs more frequently in women of child-bearing age. In women, the masses are generally located on the peritoneal surface of the uterus and rectum, while in men they are generally located on the peritoneal surface of the bladder and rectum. The tumour can also spread into the upper portions of the peritoneal cavity. Appears to originate from the peritoneal mesothelium.There is no relation with asbestos exposure. Invasive or malignant progression has been described. 900000000000017005 +3307085015 20160731 1 900000000000207008 716651004 en 900000000000550004 A rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases. 900000000000017005 +3307086019 20160731 1 900000000000207008 716651004 en 900000000000550004 A rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anaemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases. 900000000000017005 +3307089014 20160731 1 900000000000207008 716652006 en 900000000000550004 A rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. The age of onset is variable. The etiology is still unknown but it is thought to arise from Kulchitsky cells originating in the neural crest. 900000000000017005 +3307090017 20160731 1 900000000000207008 716652006 en 900000000000550004 A rare hepatic tumour that may manifest with abdominal pain or fullness, as well as diarrhoea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. The age of onset is variable. The aetiology is still unknown but it is thought to arise from Kulchitsky cells originating in the neural crest. 900000000000017005 +3307094014 20160731 1 900000000000207008 716653001 en 900000000000550004 Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation. The exact prevalence or incidence is unknown. Men are predominantly affected. Thymic neuroendocrine carcinoma is aggressive with a poor prognosis. 900000000000017005 +3307097019 20160731 1 900000000000207008 716654007 en 900000000000550004 A form of hereditary nonpolyposis colon cancer characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors), relatively few colonic polyps, and adenomas or colorectal carcinoma. 900000000000017005 +3307098012 20160731 1 900000000000207008 716654007 en 900000000000550004 A form of hereditary nonpolyposis colon cancer characterised by concurrent presentation of a primary tumour of the central nervous system (principally glial tumours), relatively few colonic polyps, and adenomas or colorectal carcinoma. 900000000000017005 +3307101011 20160731 1 900000000000207008 716655008 en 900000000000550004 A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn't usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years. 900000000000017005 +3307106018 20160731 1 900000000000207008 716657000 en 900000000000550004 An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group. 900000000000017005 +3307107010 20160731 1 900000000000207008 716657000 en 900000000000550004 An extremely rare inherited tumour syndrome within the familial nonmedullary thyroid cancer group. 900000000000017005 +3307111016 20160731 1 900000000000207008 716658005 en 900000000000550004 The presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns. Prevalence is unknown. Mammary polyadenomatosis is a benign mastopathy caused by predominantly epithelial cell hyperplasia. Onset usually occurs during adolescence or in young women between 15 and 30 years of age. 900000000000017005 +3307111016 20200731 0 900000000000207008 716658005 en 900000000000550004 The presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns. Prevalence is unknown. Mammary polyadenomatosis is a benign mastopathy caused by predominantly epithelial cell hyperplasia. Onset usually occurs during adolescence or in young women between 15 and 30 years of age. 900000000000017005 +3307114012 20160731 1 900000000000207008 716659002 en 900000000000550004 A highly malignant neoplasm that can occur on the lip, oral cavity, nasal cavity, pharynx, larynx and paranasal sinuses and that accounts for 90% of all head and neck cancers, occurring most frequently in adults between the ages of 40-60. Presents with a variety of manifestations, depending on the primary site, such as voice hoarseness, dysphagia, ulceration of oral mucosa, hearing loss, epistaxis, nasal obstruction and enlargement of a cervical lymph node. Often associated with extensive invasion into surrounding tissues and a rapid metastasis to distant organs. 900000000000017005 +3307114012 20190731 0 900000000000207008 716659002 en 900000000000550004 A highly malignant neoplasm that can occur on the lip, oral cavity, nasal cavity, pharynx, larynx and paranasal sinuses and that accounts for 90% of all head and neck cancers, occurring most frequently in adults between the ages of 40-60. Presents with a variety of manifestations, depending on the primary site, such as voice hoarseness, dysphagia, ulceration of oral mucosa, hearing loss, epistaxis, nasal obstruction and enlargement of a cervical lymph node. Often associated with extensive invasion into surrounding tissues and a rapid metastasis to distant organs. 900000000000017005 +3307119019 20160731 1 900000000000207008 716660007 en 900000000000550004 This infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with Epstein-Barr virus has never been demonstrated conclusively and must be very rare. One case has been reported to present after birth with multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. 900000000000017005 +3307124016 20160731 1 900000000000207008 716661006 en 900000000000550004 A benign or malignant neoplasm arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Primary cardiac neoplasms are rare in children. The vast majority of primary cardiac neoplasms in children are benign, whilst approximately 10% are malignant. In contrast, the majority of secondary neoplasms are malignant. 900000000000017005 +3307128018 20160731 1 900000000000207008 716662004 en 900000000000550004 A form of Parkinson disease with age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non-motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia. The exact etiology is still unknown but mutations in the genes SNCA (4q21.3-q22), LRRK2 (12q12), and VPS35 (16q12) have been implicated in its pathogenesis. Transmission is autosomal dominant. 900000000000017005 +3307129014 20160731 1 900000000000207008 716662004 en 900000000000550004 A form of Parkinson disease with age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non-motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia. The exact aetiology is still unknown but mutations in the genes SNCA (4q21.3-q22), LRRK2 (12q12), and VPS35 (16q12) have been implicated in its pathogenesis. Transmission is autosomal dominant. 900000000000017005 +3307136010 20160731 1 900000000000207008 716663009 en 900000000000550004 An inherited retinal dystrophy with manifestation of severe congenital night blindness, progressive retinal dystrophy and nystagmus. Blindness is often complete by the age of 30 years. 900000000000017005 +3307140018 20160731 1 900000000000207008 716664003 en 900000000000550004 Primary dystonia DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia. 900000000000017005 +3307144010 20160731 1 900000000000207008 716665002 en 900000000000550004 A chronic type of intestinal failure with characteristics of a nonfunctioning small bowel that may be reversible or irreversible. The body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract despite being metabolically stable. This necessitates long-term parenteral feeding. 900000000000017005 +3307149017 20160731 1 900000000000207008 716667005 en 900000000000550004 An anatomic variant of frontotemporal dementia characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy. 900000000000017005 +3307149017 20210731 0 900000000000207008 716667005 en 900000000000550004 An anatomic variant of frontotemporal dementia characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy. 900000000000017005 +3307150017 20160731 1 900000000000207008 716667005 en 900000000000550004 An anatomic variant of frontotemporal dementia characterised by behavioural dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy. 900000000000017005 +3307150017 20210731 0 900000000000207008 716667005 en 900000000000550004 An anatomic variant of frontotemporal dementia characterised by behavioural dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy. 900000000000017005 +3307159016 20160731 1 900000000000207008 716670009 en 900000000000550004 Assessment to determine leisure or play needs. Supports the selection of appropriate leisure activity or play with the aim of stimulating a change in mental outlook from negative to positive. These activities are supported in order to encourage motivation to recover from illness. Diversional care can also be used as a means of supporting a patient to improve the use of motor skills. 900000000000017005 +3307160014 20160731 1 900000000000207008 94081000119107 en 900000000000550004 Vascular access induced steal syndrome due to a functioning arteriovenous fistula or graft. 900000000000017005 +3307191015 20160731 1 900000000000207008 716682000 en 900000000000550004 Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. Prevalence of this form is not known. Presents with moderate to severe anemia, jaundice and splenomegaly. Rare mutations in the beta-globin HBB gene result in synthesis of extremely unstable beta-globin variants which precipitate in erythroid precursors causing ineffective erythropoiesis. 900000000000017005 +3307192010 20160731 1 900000000000207008 716682000 en 900000000000550004 Dominant beta-thalassaemia is a form of beta-thalassaemia resulting in moderate to severe anaemia. Prevalence of this form is not known. Presents with moderate to severe anaemia, jaundice and splenomegaly. Rare mutations in the beta-globin HBB gene result in synthesis of extremely unstable beta-globin variants which precipitate in erythroid precursors causing ineffective erythropoiesis. 900000000000017005 +3307197016 20160731 1 900000000000207008 716683005 en 900000000000550004 The syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. Only five patients have been reported to date. All patients have behavioral disorders suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum. Intellectual skills range from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features. 900000000000017005 +3307198014 20160731 1 900000000000207008 716683005 en 900000000000550004 The syndrome is associated with a broad clinical spectrum, of which behavioural disorders and poor social interaction seem to be the most consistent. Only five patients have been reported to date. All patients have behavioural disorders suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum. Intellectual skills range from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features. 900000000000017005 +3307202011 20160731 1 900000000000207008 716684004 en 900000000000550004 A recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens. 900000000000017005 +3307205013 20160731 1 900000000000207008 716685003 en 900000000000550004 A rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapse, secondary to ischemic changes in the rectum. 900000000000017005 +3307206014 20160731 1 900000000000207008 716685003 en 900000000000550004 A rare rectal disease characterised by rectal bleeding, abdominal pain, passage of mucous, sensation of incomplete evacuation, straining at defaecation and rectal prolapse, secondary to ischaemic changes in the rectum. 900000000000017005 +3307233013 20160731 1 900000000000207008 716696006 en 900000000000550004 An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. The exact prevalence remains unknown. Most commonly, the age of onset is in adolescence, although earlier presentations in infancy or childhood have been reported. Muscle weakness of variable severity is the major clinical manifestation. Mutations in the dynamin 2 (DNM2) gene on chromosome 19p13.2 are responsible. 900000000000017005 +3307236017 20160731 1 900000000000207008 716697002 en 900000000000550004 A benign genetic condition with characteristic of persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy. 900000000000017005 +3307245016 20160731 1 900000000000207008 716699004 en 900000000000550004 A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive. 900000000000017005 +3307246015 20160731 1 900000000000207008 716699004 en 900000000000550004 A suprabasal subtype of epidermolysis bullosa simplex characterised by generalised superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalised erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive. 900000000000017005 +3307249010 20160731 1 900000000000207008 716700003 en 900000000000550004 A basal subtype of epidermolysis bullosa simplex with manifestation of belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. Prevalence is unknown but 2 families have been reported to date. Onset of the disease is usually at birth. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. The disease is due to a specific mutation in the KRT5 (12q13.13) gene, encoding keratin 5. Transmission is autosomal dominant. 900000000000017005 +3307252019 20160731 1 900000000000207008 716701004 en 900000000000550004 A basal subtype of epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive. 900000000000017005 +3307253012 20160731 1 900000000000207008 716701004 en 900000000000550004 A basal subtype of epidermolysis bullosa simplex characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive. 900000000000017005 +3307265011 20160731 1 900000000000207008 716704007 en 900000000000550004 The most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis. Clinical characteristics are yellowish waxy-crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia. Histological characteristics are the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. 900000000000017005 +3307266012 20160731 1 900000000000207008 716704007 en 900000000000550004 The most rare form of primary cutaneous amyloidosis, a skin disease characterised by the accumulation of amyloid deposits in the dermis. Clinical characteristics are yellowish waxy-crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia. Histological characteristics are the localised deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. 900000000000017005 +3307272012 20160731 1 900000000000207008 716706009 en 900000000000550004 A rare X-linked genetic epilepsy syndrome affecting females. The syndrome has characteristics of seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome. In families with this disease, male carriers are unaffected despite the X-linked inheritance. 900000000000017005 +3307278011 20160731 1 900000000000207008 716708005 en 900000000000550004 FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. Prevalence is unknown. The FRAXF fragile site is located at Xq28 within the 5'UTR of the TMEM185A gene. 900000000000017005 +3307282013 20160731 1 900000000000207008 716709002 en 900000000000550004 FRAXE is a form of nonsyndromic X-linked mental retardation with characteristic of mild intellectual deficit. The estimated prevalence in the general population is between 1 in 100,000 and 1 in 150,000. FRAXE manifests in individuals with more than 200 CCG repeats in the 5' UTR of the AFF2 gene (Xq28). 900000000000017005 +3307291012 20160731 1 900000000000207008 716712004 en 900000000000550004 A respiratory disease caused by the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease. Seen in dysimmunitary disorders for example Heiner syndrome, thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography. 900000000000017005 +3307292017 20160731 1 900000000000207008 716712004 en 900000000000550004 A respiratory disease caused by the deposition of haemosiderin-laden macrophages in lungs as a result of repeated alveolar haemorrhage secondary to another disease. Seen in dysimmunitary disorders for example Heiner syndrome, thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of haemoptysis, anaemia and diffuse parenchymal infiltrates on chest radiography. 900000000000017005 +3307320017 20160731 1 900000000000207008 716721003 en 900000000000550004 An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. 900000000000017005 +3307321018 20160731 1 900000000000207008 716721003 en 900000000000550004 An inborn error of metabolism characterised by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibres. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. 900000000000017005 +3307325010 20160731 1 900000000000207008 716722005 en 900000000000550004 A motor sensory axonal form of Guillain-Barré syndrome. Patients present with muscle weakness and sensory deficits, similar to that of the more frequent demyelinating form of Guillain-Barré syndrome. As in other types of Guillain-Barré syndrome, an infectious disease precedes the onset of limb weakness in the majority of cases. Although the exact pathological mechanism is poorly understood the disease is associated with the presence of antiganglioside antibodies and may be caused by antibody-mediated primary axonal degeneration or antibody-mediated inhibition of voltage-gated sodium channels. 900000000000017005 +3307329016 20160731 1 900000000000207008 716723000 en 900000000000550004 An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome. The clinical course is divided into three phases. The first phase (lasting a few weeks) has characteristics of rapidly progressive muscle weakness. It is symmetrical and may cause acute neuromuscular paralysis. Sensory disturbances, intense pains, and cramps may also occur. During the second phase (variable duration), symptoms become stable but other manifestations (cardiac arrhythmias, hyper/hypotension and gastric dysmotility) may occur. During the third (recovery) phase, lasting a few months or longer, symptoms slowly regress. Many patients have residual findings (weakness, sensory disturbances, fatigue or pain) for many months or even years. In the majority of cases, an infectious disease precedes the onset of limb weakness, with Campylobacter jejuni infection being the most frequent initiating event. 900000000000017005 +3307333011 20160731 1 900000000000207008 716724006 en 900000000000550004 A rare subtype of type 1 autosomal dominant cerebellar ataxia with characteristics of cerebellar ataxia, tremor and cognitive impairment. Prevalence is unknown. Fewer than 80 patients affected by the disease have been identified to date. Age of onset is from 20 to 66 years. Genetic testing has shown that patients originally classified under SCA15 and SCA16 have the same subtype caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 ITPR1 gene (3p26.1). Prognosis is generally good and life-shortening events do not usually occur. 900000000000017005 +3307381016 20160731 1 900000000000207008 716740009 en 900000000000550004 Thomas syndrome has characteristics of renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. 900000000000017005 +3307386014 20160731 1 900000000000207008 716741008 en 900000000000550004 A very rare congenital malformation syndrome with characteristics of bilateral hypoplasia of the tibia and polydactyly of the feet and hands. Prevalence is unknown but the syndrome is very rare with only a few case reports described in the literature. Additional findings include a thickened and/or duplicated fibula, hand syndactyly, and triphalangeal thumb. Autosomal dominant inheritance has been reported. 900000000000017005 +3307386014 20220630 0 900000000000207008 716741008 en 900000000000550004 A very rare congenital malformation syndrome with characteristics of bilateral hypoplasia of the tibia and polydactyly of the feet and hands. Prevalence is unknown but the syndrome is very rare with only a few case reports described in the literature. Additional findings include a thickened and/or duplicated fibula, hand syndactyly, and triphalangeal thumb. Autosomal dominant inheritance has been reported. 900000000000017005 +3307390011 20160731 1 900000000000207008 716742001 en 900000000000550004 The development of two or more cartilage capped bony outgrowths of the long bones.Develop and increase in size in the first decade of life, ceasing to grow when the growth plates close at puberty. The number may vary significantly within and between families. The majority are asymptomatic and located in bones that develop from cartilage, especially the long bones of the extremities, predominantly around the knee. The most important complication is malignant transformation towards secondary peripheral chondrosarcoma. Germline mutations in EXT1 or EXT2, are found in almost 90% of patients. An autosomal dominant disorder. 900000000000017005 +3307396017 20160731 1 900000000000207008 716743006 en 900000000000550004 A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. 900000000000017005 +3307397014 20160731 1 900000000000207008 716743006 en 900000000000550004 A rare hyperthyroidism characterised by mild to severe hyperthyroidism, presence of goitre, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. 900000000000017005 +3307400017 20160731 1 900000000000207008 716744000 en 900000000000550004 The displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. This congenital malformation is not rare, with an estimated prevalence of 1/1000 births but familial forms account for only 10% of cases. Hypospadias is clinically more or less severe depending on the location of the urethral opening. Familial forms are identified by determining the medical history of the family. 900000000000017005 +3307400017 20200731 0 900000000000207008 716744000 en 900000000000550004 The displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. This congenital malformation is not rare, with an estimated prevalence of 1/1000 births but familial forms account for only 10% of cases. Hypospadias is clinically more or less severe depending on the location of the urethral opening. Familial forms are identified by determining the medical history of the family. 900000000000017005 +3307407019 20160731 1 900000000000207008 716745004 en 900000000000550004 A rare non-inflammatory thrombotic vasculopathy predominantly affecting women in young adulthood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin that is exacerbated by cold or pregnancy. Neurological manifestations include recurrent transient ischemic attacks and infarcts. While about 50% of cases are idiopathic, the disease can be associated with autoimmune diseases like systemic lupus erythematosus and antiphospholipid syndrome. Genetic factors may play a role in the pathogenesis. Loss-of-function mutations in cat eye syndrome chromosome region candidate 1 CECR1 (22q11.2) encoding adenosine deaminase 2 have been found. Most cases are sporadic but some familial cases with an autosomal dominant inheritance have been reported. 900000000000017005 +3307408012 20160731 1 900000000000207008 716745004 en 900000000000550004 A rare non-inflammatory thrombotic vasculopathy predominantly affecting women in young adulthood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discolouration of the skin that is exacerbated by cold or pregnancy. Neurological manifestations include recurrent transient ischaemic attacks and infarcts. While about 50% of cases are idiopathic, the disease can be associated with autoimmune diseases like systemic lupus erythematosus and antiphospholipid syndrome. Genetic factors may play a role in the pathogenesis. Loss-of-function mutations in cat eye syndrome chromosome region candidate 1 CECR1 (22q11.2) encoding adenosine deaminase 2 have been found. Most cases are sporadic but some familial cases with an autosomal dominant inheritance have been reported. 900000000000017005 +3307412018 20160731 1 900000000000207008 716746003 en 900000000000550004 A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. Inherited in an autosomal recessive manner. 900000000000017005 +3307413011 20160731 1 900000000000207008 716746003 en 900000000000550004 A rare haemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterised by a haemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. Inherited in an autosomal recessive manner. 900000000000017005 +3307417012 20160731 1 900000000000207008 716747007 en 900000000000550004 Characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome. 900000000000017005 +3307418019 20160731 1 900000000000207008 716747007 en 900000000000550004 Characterized by infantile-onset hypoglycemia and hyperprolinemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome. 900000000000017005 +3307460015 20160731 1 900000000000207008 715807002 en 900000000000550004 Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. 900000000000017005 +3307461016 20160731 1 900000000000207008 715807002 en 900000000000550004 Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterised by typical CJD features (rapidly progressive dementia, personality/behavioural changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. 900000000000017005 +3307489018 20160731 1 900000000000207008 716766007 en 900000000000550004 A chronic multisystem granulomatous inflammatory disease with manifestation of single or multiple soft plaques on various organs of the body. Can occur in all ages, with a mean age at diagnosis of 50 years old and a female predominance. Cases in children are rare. It is most common in immunodeficient patients with a history of diabetes, transplantation, lymphoma, steroid therapy or alcoholism. Seems to be due to an impaired response to bacterial infection. 900000000000017005 +3307497013 20160731 1 900000000000207008 716768008 en 900000000000550004 An anatomic anomaly of the knee with characteristic of abnormal geometry of the femoral part of the patello-femoral joint. It is one of the main factors causing patellar dislocation. Present in 96% of patients with symptomatic patellar dislocation. It is observed in all ages, but is more frequent during childhood and adolescence. The femoral trochlea loses its normal concave anatomy to become flat and sometimes convex with highly asymmetrical facets. This causes a patellar tilt which could lead to patellar dislocation during knee flexion. 900000000000017005 +3307497013 20190731 0 900000000000207008 716768008 en 900000000000550004 An anatomic anomaly of the knee with characteristic of abnormal geometry of the femoral part of the patello-femoral joint. It is one of the main factors causing patellar dislocation. Present in 96% of patients with symptomatic patellar dislocation. It is observed in all ages, but is more frequent during childhood and adolescence. The femoral trochlea loses its normal concave anatomy to become flat and sometimes convex with highly asymmetrical facets. This causes a patellar tilt which could lead to patellar dislocation during knee flexion. 900000000000017005 +3307509018 20160731 1 900000000000207008 716771000 en 900000000000550004 A rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.In rare pathological cases, hiccups may last for more than two days. Recurrent episodes over long periods are also called chronic hiccup. Clinical repercussions of these episodes may include dehydration, weight loss and malnutrition due to difficulty eating, sleep disorders, depression and exhaustion. 900000000000017005 +3307510011 20160731 1 900000000000207008 716771000 en 900000000000550004 A rare movement disorder characterised by involuntary spasmodic contractions of the inspiratory muscles synchronised with larynx closure lasting for more than 48 hours.In rare pathological cases, hiccups may last for more than two days. Recurrent episodes over long periods are also called chronic hiccup. Clinical repercussions of these episodes may include dehydration, weight loss and malnutrition due to difficulty eating, sleep disorders, depression and exhaustion. 900000000000017005 +3307513013 20160731 1 900000000000207008 716772007 en 900000000000550004 A rare benign autosomal dominant disorder of fat tissue proliferation with characteristic of presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984. 900000000000017005 +3307517014 20160731 1 900000000000207008 716773002 en 900000000000550004 A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium. It is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications. 900000000000017005 +3307518016 20160731 1 900000000000207008 716773002 en 900000000000550004 A rare congenital heart malformation of unknown aetiology that is characterised by an extremely dilated right atrium. It is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications. 900000000000017005 +3307524010 20160731 1 900000000000207008 716774008 en 900000000000550004 A rare inherited skin cancer syndrome with the coexistence of features characteristic of both multiple keratoacanthoma, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant. 900000000000017005 +3307525011 20160731 1 900000000000207008 716774008 en 900000000000550004 A rare inherited skin cancer syndrome with the coexistence of features characteristic of both multiple keratoacanthoma, Ferguson Smith type and generalised eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant. 900000000000017005 +3307537013 20160731 1 900000000000207008 716775009 en 900000000000550004 A severe form of microphthalmia with characteristics of a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. Nanophthalmia is generally bilateral. Strabism is present in most patients. Mutations in the MFRP gene (11q23.1) have been found to be responsible for the hereditary form with recessive transmission. Chromosomal anomalies involving chromosome 11p and 2q11-14 have been identified for autosomal dominant forms of nanophthalmia. It may be inherited as an autosomal dominant or recessive trait, or may occur sporadically. 900000000000017005 +3307583019 20160731 1 900000000000207008 716787002 en 900000000000550004 A variant of central neurocytoma, a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior. 900000000000017005 +3307584013 20160731 1 900000000000207008 716787002 en 900000000000550004 A variant of central neurocytoma, a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behaviour. 900000000000017005 +3307599013 20160731 1 900000000000207008 716788007 en 900000000000550004 A rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate. 900000000000017005 +3307600011 20160731 1 900000000000207008 716788007 en 900000000000550004 A rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumour is characterised by an aggressive course and a short survival rate. 900000000000017005 +3307614011 20160731 1 900000000000207008 716790008 en 900000000000550004 A rare and severe chronic disease characterized by recurrent chronic eczema mainly affecting seborrheic areas, a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. 900000000000017005 +3307615012 20160731 1 900000000000207008 716790008 en 900000000000550004 A rare and severe chronic disease characterised by recurrent chronic eczema mainly affecting seborrhoeic areas, a generalised fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. 900000000000017005 +3307803011 20160731 1 900000000000207008 716857003 en 900000000000550004 Rare neuroendocrine neoplasms represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas. Can be either hypersecreting (catecholamines) or non-secreting. There are no validated markers of malignancy (rate around 15%); the only criterion is the presence of metastases. Hereditary disease is caused by mutations in the SDHD, SDHC, SDHB, SDHA and SDHAF2 (or SDH5) genes (11q23, 1q21, 1p36.1-p35, 5p15 and 11q31.1 respectively). Transmission is autosomal dominant. The disease may be fatal, but some have lived with malignant PCC/PGL for 20 years or more. 900000000000017005 +3307810017 20160731 1 900000000000207008 716859000 en 900000000000550004 Familial gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer. Familial gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome and Li-Fraumeni syndrome. 900000000000017005 +3307815010 20160731 1 900000000000207008 716860005 en 900000000000550004 A parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. The prevalence is unknown. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health. The diagnosis is made by parasitological examination of the stools. 900000000000017005 +3307816011 20160731 1 900000000000207008 716860005 en 900000000000550004 A parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. The prevalence is unknown. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health. The diagnosis is made by parasitological examination of the stools. 900000000000017005 +3307823012 20160731 1 900000000000207008 716862002 en 900000000000550004 Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN harmatoma syndrome group. 900000000000017005 +3307823012 20200131 0 900000000000207008 716862002 en 900000000000550004 Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN harmatoma syndrome group. 900000000000017005 +3307832014 20160731 1 900000000000207008 716864001 en 900000000000550004 Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations. 900000000000017005 +3307833016 20160731 1 900000000000207008 716864001 en 900000000000550004 Haemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe haemorrhagic disease caused by Old World Hantaviruses characterised by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic haemorrhagic manifestations. 900000000000017005 +3307837015 20160731 1 900000000000207008 716865000 en 900000000000550004 An infectious embryofetopathy that has been reported to cause spontaneous abortion, stillbirth, malformations and acute systemic illness in the newborn. The clinical manifestations of congenital infection ranges from asymptomatic to benign, febrile to severe illness consisting of variable combinations of sepsis, hepatitis, coagulopathy, myocarditis, pneumonitis and meningoencephalitis. 900000000000017005 +3307847017 20160731 1 900000000000207008 716868003 en 900000000000550004 A rare genetic chronic skeletal disorder with characteristics of peripheral osteolysis, interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. The prevalence and incidence of MONA are not known. Fewer than 50 cases have been reported worldwide. MONA spectrum disorders are caused by mutations in the MMP2 gene (16q13-q21) or MMP14 gene (14q11-q12). Follows an autosomal recessive pattern of inheritance. Many cases are reported in children from consanguineous unions. 900000000000017005 +3307850019 20160731 1 900000000000207008 716872004 en 900000000000550004 Administration of antineoplasitic chemotherapeutic agent(s) which may be individual instances or separate times over a pre-determined or planned period of days or weeks. 900000000000017005 +3307850019 20200731 0 900000000000207008 716872004 en 900000000000550004 Administration of antineoplasitic chemotherapeutic agent(s) which may be individual instances or separate times over a pre-determined or planned period of days or weeks. 900000000000017005 +3307859018 20160731 1 900000000000207008 716871006 en 900000000000550004 An extremely rare type of severe combined immunodeficiency characterized by the classical signs of severe combined immunodeficiency (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes and cell sensitivity to ionizing radiation. 900000000000017005 +3307860011 20160731 1 900000000000207008 716871006 en 900000000000550004 An extremely rare type of severe combined immunodeficiency characterised by the classical signs of severe combined immunodeficiency (severe and recurrent infections, diarrhoea, failure to thrive), absence of T and B lymphocytes and cell sensitivity to ionising radiation. 900000000000017005 +3307864019 20160731 1 900000000000207008 367336001 en 900000000000550004 The treatment of disease using chemical agents or drugs that are selectively toxic to the causative agent of the disease, such as a virus, bacterium, or other microorganism. 900000000000017005 +3308116012 20160731 1 900000000000207008 716994006 en 900000000000550004 A form of frontotemporal dementia characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. 900000000000017005 +3308117015 20160731 1 900000000000207008 716994006 en 900000000000550004 A form of frontotemporal dementia characterised by progressive behavioural impairment and a decline in executive function with frontal lobe-predominant atrophy. 900000000000017005 +3308125018 20160731 1 900000000000207008 716996008 en 900000000000550004 A mild to severe congenital X-linked developmental disorder with hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. Primarily affects males. Affected males have varying degrees of hydrocephalus ranging from subclinical to severe. Intellectual deficit ranges from mild to severe. Adducted thumbs are a characteristic feature of the syndrome, present in about 50% of cases. Caused by mutations in the L1CAM gene (Xq28) encoding the L1 cell adhesion molecule that is expressed mainly in the developing nervous system. Inherited in an X-linked manner. 900000000000017005 +3308129012 20160731 1 900000000000207008 716997004 en 900000000000550004 Congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Cognitive abilities are variable, ranging from severe intellectual deficit to normal intelligence. Careful examination of the face shows a characteristic appearance: large head, prominent forehead, high rounded eyebrow. The syndrome is genetically heterogeneous. Seven genes, AHI1 (6q23), NPHP1 (2q13), CEP290 (12q21), TMEM67 (8q22), RPGRIP1L (16q12), ARL13B (3p12.3-q12.3) and CC2D2A (4p15), and two loci on chromosomes 9q34 (JBTS1) and 11p12-q13 (CORS2/JBTS2) have been associated with the disease so far. Transmission is autosomal recessive. 900000000000017005 +3308133017 20160731 1 900000000000207008 716998009 en 900000000000550004 The most frequent subtype of Joubert syndrome with manifestation of neurological features of Joubert Syndrome associated with retinal dystrophy. Prevalence is unknown. Age of onset and severity of retinal involvement are variable, ranging from congenital to progressive retinopathy with partial conservation of vision. To date, the most frequently mutated gene in this subtype is AHI1 (6q23.2), which accounts for about 20% of cases, following autosomal recessive inheritance. 900000000000017005 +3308140016 20160731 1 900000000000207008 716999001 en 900000000000550004 A rare subtype of Joubert syndrome with manifestation of the neurological features of Joubert Syndrome associated with renal disease, in the absence of retinopathy. Prevalence is unknown. In most cases the renal disease manifests as juvenile nephronophthisis, with onset of clinical symptoms in the late first/early second decade of life, although in rare cases there may be infantile nephronophthisis, with onset in the first years of life. The most commonly mutated genes in this subtype are NPHP1 (2q13) and RPGRIP1L (16q12.2) with autosomal recessive inheritance. 900000000000017005 +3308156014 20160731 1 900000000000207008 717003001 en 900000000000550004 A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance. 900000000000017005 +3308157017 20160731 1 900000000000207008 717003001 en 900000000000550004 A rare evolutive vascular malformation disorder characterised by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral haemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance. 900000000000017005 +3308171013 20160731 1 900000000000207008 717008005 en 900000000000550004 A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood. 900000000000017005 +3308177012 20160731 1 900000000000207008 717010007 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with the association of vocal cord anomalies, impairment of respiratory muscles, sensorineural hearing loss and weakness of hands and feet. Onset is between infancy and the sixth decade. 900000000000017005 +3308180013 20160731 1 900000000000207008 717011006 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with distal weakness primarily and predominantly occurring in the upper limbs.Tendon reflexes are absent or reduced in the arms and decreased in the legs. Progression is slow. 900000000000017005 +3308183010 20160731 1 900000000000207008 717012004 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Onset is in the first to sixth decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and after years all patients have a pes cavus. Other signs may be present including hearing loss and postural tremor. 900000000000017005 +3308186019 20160731 1 900000000000207008 717013009 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. A late onset with severe sensory loss associated with distal weakness mainly of the legs and absent or reduced deep tendon reflexes. 900000000000017005 +3308189014 20160731 1 900000000000207008 717014003 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Relatively late onset papillary abnormalities and deafness in most patients associated with distal weakness and muscle atrophy. 900000000000017005 +3308195010 20160731 1 900000000000207008 717016001 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor. 900000000000017005 +3308250013 20160731 1 900000000000207008 717041008 en 900000000000550004 Refers to cases of recessive X-linked ichthyosis (RXLI) that are associated with extracutaneous manifestations as part of a syndrome. It affects almost exclusively males. Cutaneous manifestations include hyperkeratosis and scaling of the skin. Non cutaneous manifestations may be corneal opacity, late puberty, cryptorchidism and a higher frequency of testicular cancer. Manifestations due to contiguous gene syndrome include neurological abnormalities such as epilepsy and hyposmia, intellectual deficit and/or short stature. Transmission is X-linked recessive. 900000000000017005 +3308254016 20160731 1 900000000000207008 717042001 en 900000000000550004 An autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Prevalence is unknown. It is characterized by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leukodystrophy on magnetic resonance imaging. 900000000000017005 +3308255015 20160731 1 900000000000207008 717042001 en 900000000000550004 An autosomal recessive leucodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Prevalence is unknown. It is characterised by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leucodystrophy on magnetic resonance imaging. 900000000000017005 +3308258018 20160731 1 900000000000207008 717043006 en 900000000000550004 A life-threatening syndrome with manifestation of progressive and painful skin ulcerations associated with calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation. 900000000000017005 +3308262012 20160731 1 900000000000207008 717044000 en 900000000000550004 Caused by abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. 900000000000017005 +3308263019 20160731 1 900000000000207008 717044000 en 900000000000550004 Caused by abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterised by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycaemia), recurrent episodes of profound hypoglycaemia and resistance to medical management with diazoxide. 900000000000017005 +3308266010 20160731 1 900000000000207008 717045004 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations. 900000000000017005 +3308267018 20160731 1 900000000000207008 717045004 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations. 900000000000017005 +3308272010 20160731 1 900000000000207008 717046003 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations. 900000000000017005 +3308273017 20160731 1 900000000000207008 717046003 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations. 900000000000017005 +3308277016 20160731 1 900000000000207008 717047007 en 900000000000550004 Anomaly of bile acid synthesis with manifestation of fat malabsorption, neonatal cholestasis and growth failure. Prevalence is unknown. Only 8 cases have been reported. Patients present with a history of neonatal cholestasis, fat and fat-soluble vitamin malabsorption and growth failure. Several mutations in the bile acid-CoA ligase gene have been found in most patients with this defect. The mode of transmission of these mutations is not known. 900000000000017005 +3308281016 20160731 1 900000000000207008 717048002 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance. 900000000000017005 +3308282011 20160731 1 900000000000207008 717048002 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycaemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance. 900000000000017005 +3308286014 20160731 1 900000000000207008 717049005 en 900000000000550004 A rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 with characteristics of pre and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. It has been described in fewer than 15 patients. Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor. Trisomy 17p has been reported to be pure, as the result of a de novo 17p duplication or an extra chromosome derived from the 17p arm. 900000000000017005 +3308290011 20160731 1 900000000000207008 716863007 en 900000000000550004 A severe subtype of citrin deficiency characterized clinically by adult onset, recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior, seizures and coma. 900000000000017005 +3308294019 20160731 1 900000000000207008 717051009 en 900000000000550004 eSuisse Health 900000000000017005 +3308294019 20170731 0 900000000000207008 717051009 en 900000000000550004 eSuisse Health 900000000000017005 +3308300016 20160731 1 900000000000207008 717052002 en 900000000000550004 A rare subtype of Leigh syndrome with clinical characteristics of encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay. Onset in infancy or early childhood resulting from maternally-inherited mutations in mitochondrial DNA. 900000000000017005 +3308303019 20160731 1 900000000000207008 717053007 en 900000000000550004 Describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. The prevalence is unknown, several cases have been described, presentation is variable. Most of the characteristics of GRACILE syndrome are present but they are often less severe. Signs of disturbances in iron metabolism have been described. Most infants die during the neonatal period. In those who survive, encephalopathy and psychiatric disorders have been described. This disease is due to different mutations in the BCS1L gene (2q35) encoding a protein essential in the assembly of complex III in the mitochondrial respiratory chain. Inherited autosomal recessively. 900000000000017005 +3308306010 20160731 1 900000000000207008 717054001 en 900000000000550004 A rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. 900000000000017005 +3308307018 20160731 1 900000000000207008 717054001 en 900000000000550004 A rare neurological mitochondrial DNA-related disorder characterised clinically by progressive paediatric-onset dystonia with variable degrees of severity. 900000000000017005 +3308310013 20160731 1 900000000000207008 717055000 en 900000000000550004 A rare variant of lichen planopilaris with characteristic of symmetrical progressive band-like anterior hair loss of the scalp. Prevalence is unknown. It most commonly affects postmenopausal women, although it has also been reported in men and premenopausal women. Progressive recession of the frontal and temporal hairline is observed. Approximately half of all cases also have eyebrow loss; less often there is hair loss in other parts of the body. It is only very rarely associated with classic lichen planus lesions elsewhere. It is suggested that the disease could have a hormonal origin, but to date the precise cause remains unknown. 900000000000017005 +3308325013 20160731 1 900000000000207008 717061002 en 900000000000550004 A rare variant of cutaneous lichen planus with the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body. A rare disease in Europe but it is common in Indian populations and in the Middle East. The overall prevalence is unknown. There is no difference in distribution between males and females. The disease usually appears in the third and fourth decade of life. The lesions are asymptomatic or mildly pruritic. Skin changes are dark brown or slate grey macules or papules with, in most cases, a diffuse pigmentation pattern. They most commonly affect the face, neck and upper limbs. Cause is unknown but various factors (e.g. viral infections and certain topical agents including mustard oil and henna hair dyes) can trigger the disease. 900000000000017005 +3308329019 20160731 1 900000000000207008 717062009 en 900000000000550004 Denotes the presence of a lesion on the cervical margin of the tooth that is not caries. 900000000000017005 +3308477018 20160731 1 900000000000207008 717129004 en 900000000000550004 Model developed to calculate risk of hereditary breast cancer. 900000000000017005 +3308530013 20160731 1 900000000000207008 717050005 en 900000000000550004 A non-syndromic, microcytic/hypochromic sideroblastic anaemia, present from early infancy and characterised by severe microcytic anaemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterised individuals have been reported. Clinical features are those of anaemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycaemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait. 900000000000017005 +3308531012 20160731 1 900000000000207008 717050005 en 900000000000550004 A non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterized individuals have been reported. Clinical features are those of anemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait. 900000000000017005 +3308532017 20160731 1 900000000000207008 716863007 en 900000000000550004 A severe subtype of citrin deficiency characterised clinically by adult onset, recurrent episodes of hyperammonaemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behaviour, seizures and coma. 900000000000017005 +3308539014 20160731 1 900000000000207008 717155003 en 900000000000550004 Disorder with clinical characteristics of low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction and hypoglycemia. 900000000000017005 +3308540011 20160731 1 900000000000207008 717155003 en 900000000000550004 Disorder with clinical characteristics of low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidaemia, galactosaemia, hypoproteinaemia, hepatomegaly, decreased coagulation factors, haemolytic anaemia, variable but mostly mild liver dysfunction and hypoglycaemia. 900000000000017005 +3308542015 20160731 1 900000000000207008 717156002 en 900000000000550004 The association of biliary atresia and splenic abnormalities. Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. 900000000000017005 +3308543013 20160731 1 900000000000207008 717156002 en 900000000000550004 The association of biliary atresia and splenic abnormalities. Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterised by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anaemia and often palpable spleen. 900000000000017005 +3308546017 20160731 1 900000000000207008 717157006 en 900000000000550004 A syndrome of mental retardation/multiple congenital malformations that is caused by the total or partial duplication of the short arm of chromosome 10. Around 50 cases have been described in the literature. The anomalies are present at birth. Children are usually dolichocephalic with a high and prominent forehead, contrasting with a small face. Osteoarticular anomalies are frequent, including ligament hyperlaxity, flexion deformations of limbs, and club feet. Cardiac, renal, ocular and bone malformations have been reported. The majority of cases are a result of the malsegregation of a familial balanced translocation. The most frequent break point is located at the level of p11 band, but it can be more distal and result in partial trisomy. 900000000000017005 +3308549012 20160731 1 900000000000207008 717158001 en 900000000000550004 A severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. The mode of transmission follows a Y-linked pattern, with incomplete penetrance, but as deletions are often associated with infertility, they generally occur de novo. Molecular diagnosis is made by PCR amplification of STS type sequences (sequence-tagged sites) from the AZFa, b, and c regions. All chromosome Y deletions do not necessarily lead to infertility: firstly, some deletions (especially some partial deletions) do not result in spermatogenesis defects; secondly, among men with severe oligospermia, some can father children without infertility treatment. Finally, when mature spermatozoa are found in the sperm or in the testicles, the infertility problem can be solved with medically assisted procreation techniques. However, there is a risk of transmitting the microdeletion to every male infant. 900000000000017005 +3308605016 20160731 1 900000000000207008 717181004 en 900000000000550004 An autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. 900000000000017005 +3308607012 20160731 1 900000000000207008 716857003 en 900000000000550004 Rare neuroendocrine neoplasms represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and phaeochromocytomas. Can be either hypersecreting (catecholamines) or non-secreting. There are no validated markers of malignancy (rate around 15%); the only criterion is the presence of metastases. Hereditary disease is caused by mutations in the SDHD, SDHC, SDHB, SDHA and SDHAF2 (or SDH5) genes (11q23, 1q21, 1p36.1-p35, 5p15 and 11q31.1 respectively). Transmission is autosomal dominant. The disease may be fatal, but some have lived with malignant PCC/PGL for 20 years or more. 900000000000017005 +3308611018 20160731 1 900000000000207008 717182006 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterized by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause. 900000000000017005 +3308612013 20160731 1 900000000000207008 717182006 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterised by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause. 900000000000017005 +3308618012 20160731 1 900000000000207008 717183001 en 900000000000550004 A diffuse palmoplantar keratoderma with manifestation of honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness.Follows an autosomal dominant mode of transmission. 900000000000017005 +3308623012 20160731 1 900000000000207008 717184007 en 900000000000550004 A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype 900000000000017005 +3308628015 20160731 1 900000000000207008 717185008 en 900000000000550004 An extremely rare fatal neurometabolic developmental disorder with clinical characteristics of muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. 900000000000017005 +3308638013 20160731 1 900000000000207008 717187000 en 900000000000550004 This syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. 900000000000017005 +3308648010 20160731 1 900000000000207008 717191005 en 900000000000550004 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. 900000000000017005 +3308648010 20200731 0 900000000000207008 717191005 en 900000000000550004 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. 900000000000017005 +3308651015 20160731 1 900000000000207008 717192003 en 900000000000550004 Syndrome with the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. 900000000000017005 +3308652010 20160731 1 900000000000207008 717191005 en 900000000000550004 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. 900000000000017005 +3308652010 20200731 0 900000000000207008 717191005 en 900000000000550004 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. 900000000000017005 +3308718016 20160731 1 900000000000207008 717222003 en 900000000000550004 This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localized to the Xq27-q28 region. 900000000000017005 +3308722014 20160731 1 900000000000207008 717223008 en 900000000000550004 This syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). 900000000000017005 +3308723016 20160731 1 900000000000207008 717223008 en 900000000000550004 This syndrome is characterised by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). 900000000000017005 +3308727015 20160731 1 900000000000207008 717224002 en 900000000000550004 An extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. 900000000000017005 +3308728013 20160731 1 900000000000207008 717224002 en 900000000000550004 An extremely rare skin disease described in only four families to date and characterised in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localised brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. 900000000000017005 +3308734018 20160731 1 900000000000207008 717225001 en 900000000000550004 An inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high 900000000000017005 +3308735017 20160731 1 900000000000207008 717225001 en 900000000000550004 An inherited epileptic syndrome characterised by cortical hand tremors, myoclonic jerks and occasional generalised or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high 900000000000017005 +3308746019 20160731 1 900000000000207008 717228004 en 900000000000550004 The presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. 900000000000017005 +3308757012 20160731 1 900000000000207008 717231003 en 900000000000550004 An auto inflammatory syndrome with characteristics of recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. Usually presents during early childhood with recurrent episodes of fever during which children appear very ill. Aphthous stomatitis presents with relatively painless small, round and shallow lesions on the tongue and oral mucosa that recover completely in 10-14 days. Most patients present with tonsillitis, occasionally with white exudates and a general pharyngitis. Episodes recur every 3-5 weeks, often in a predictable fashion with patients describing a mild malaise the day before recurrence. An idiopathic inflammatory condition. 900000000000017005 +3308764014 20160731 1 900000000000207008 717222003 en 900000000000550004 This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localised to the Xq27-q28 region. 900000000000017005 +3308767019 20160731 1 900000000000207008 717232005 en 900000000000550004 A rare congenital disorder characterized by multifocal, segmental dilatation of the large intrahepatic bile ducts. It may present at any age and predominantly affects females. Less than 250 cases have been described worldwide. Caroli disease is characterized by bile ductal ectasia without other apparent hepatic abnormalities. It presents with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. The more common variant of this disease, named Caroli syndrome, is characterized by dilatations of the large bile duct associated with congenital hepatic fibrosis. The etiology of Caroli disease is unknown and its occurrence is sporadic, whereas Caroli syndrome is generally inherited in an autosomal recessive manner. 900000000000017005 +3308768012 20160731 1 900000000000207008 717232005 en 900000000000550004 A rare congenital disorder characterised by multifocal, segmental dilatation of the large intrahepatic bile ducts. It may present at any age and predominantly affects females. Less than 250 cases have been described worldwide. Caroli disease is characterised by bile ductal ectasia without other apparent hepatic abnormalities. It presents with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. The more common variant of this disease, named Caroli syndrome, is characterised by dilatations of the large bile duct associated with congenital hepatic fibrosis. The aetiology of Caroli disease is unknown and its occurrence is sporadic, whereas Caroli syndrome is generally inherited in an autosomal recessive manner. 900000000000017005 +3308830016 20160731 1 900000000000207008 718362003 en 900000000000550004 The occurrence of abnormal involuntary movements that are incongruent with a known neurologic cause and are significantly improved on neurological exam with distraction or non-physiologic maneuvers. The disorder is defined by its clinical appearance, rather than by any causative speculation. 900000000000017005 +3308837018 20160731 1 900000000000207008 717253001 en 900000000000550004 Description of the quality and intensity of pain as experienced. 900000000000017005 +3308841019 20160731 1 900000000000207008 717254007 en 900000000000550004 An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. Not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. All families identified so far have mutations in the ABCB6 gene (2q36), leading to an inherited abnormality in the movement of ions across the red cell membrane, such that when the red cells are cooled they lose potassium into the plasma. Inherited as an autosomal dominant trait. The prognosis is excellent most patients remain asymptomatic. 900000000000017005 +3308842014 20160731 1 900000000000207008 717254007 en 900000000000550004 An inherited, mild, non-haemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. Not associated with additional haematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. All families identified so far have mutations in the ABCB6 gene (2q36), leading to an inherited abnormality in the movement of ions across the red cell membrane, such that when the red cells are cooled they lose potassium into the plasma. Inherited as an autosomal dominant trait. The prognosis is excellent most patients remain asymptomatic. 900000000000017005 +3308845011 20160731 1 900000000000207008 717255008 en 900000000000550004 An acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions. 900000000000017005 +3308845011 20210131 0 900000000000207008 717255008 en 900000000000550004 An acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions. 900000000000017005 +3308846012 20160731 1 900000000000207008 717255008 en 900000000000550004 An acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterised by malabsorption, diarrhoea, oedema due hypoproteinaemia, steatorrhoea and serosal effusions. 900000000000017005 +3308846012 20210131 0 900000000000207008 717255008 en 900000000000550004 An acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterised by malabsorption, diarrhoea, oedema due hypoproteinaemia, steatorrhoea and serosal effusions. 900000000000017005 +3308857019 20160731 1 900000000000207008 717257000 en 900000000000550004 A rare form of localized lichen myxedematosus characterized by the development of skin-colored mucinous nodules on the limbs and trunk, with mild or absent papular eruption. 900000000000017005 +3308858012 20160731 1 900000000000207008 717257000 en 900000000000550004 A rare form of localised lichen myxoedematosus characterised by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption. 900000000000017005 +3308862018 20160731 1 900000000000207008 717258005 en 900000000000550004 Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-colored mucinous papules on the limbs and trunk. 900000000000017005 +3308863011 20160731 1 900000000000207008 717258005 en 900000000000550004 Discrete papular lichen myxoedematosus is a rare chronic, slowly progressive form of localised lichen myxoedematosus characterised by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk. 900000000000017005 +3308866015 20160731 1 900000000000207008 717259002 en 900000000000550004 Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk. 900000000000017005 +3308867012 20160731 1 900000000000207008 717259002 en 900000000000550004 Papular mucinosis of infancy is a rare paediatric non progressive form of localised lichen myxoedematosus characterised by the development of firm opalescent mucinous papules on the upper arms and the trunk. 900000000000017005 +3308871010 20160731 1 900000000000207008 717260007 en 900000000000550004 One of the most severe forms of congenital adrenal hyperplasia, it is extremely rare. Congenital anomalies are typically seen in the perinatal period. Boys are not virilized and demonstrate a complete girl phenotype. The external genitalia of girls are normal. Hypoglycemic seizures, vomiting or symptoms of dehydration are common manifestations. This disease is due to a mutation in the STAR gene, which encodes for a protein that regulates steroid hormone synthesis. The disease follows an autosomal recessive pattern of inheritance. 900000000000017005 +3308872015 20160731 1 900000000000207008 717260007 en 900000000000550004 One of the most severe forms of congenital adrenal hyperplasia, it is extremely rare. Congenital anomalies are typically seen in the perinatal period. Boys are not virilised and demonstrate a complete girl phenotype. The external genitalia of girls are normal. Hypoglycaemic seizures, vomiting or symptoms of dehydration are common manifestations. This disease is due to a mutation in the STAR gene, which encodes for a protein that regulates steroid hormone synthesis. The disease follows an autosomal recessive pattern of inheritance. 900000000000017005 +3308875018 20160731 1 900000000000207008 717261006 en 900000000000550004 The most common form of congenital adrenal hyperplasia, divided into 2 clinical groups simple virilizing or salt wasting forms. Manifests with genital ambiguity in females and with adrenal insufficiency in both sexes. Girls present with ambiguous genitalia and the extent of virilization can vary from a nearly male appearance to minimal clitoromegaly. A normal uterus and various degrees of abnormal vaginal development are seen. The external genitalia in boys are normal. The disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3. Follows an autosomal recessive pattern of inheritance. 900000000000017005 +3308876017 20160731 1 900000000000207008 717261006 en 900000000000550004 The most common form of congenital adrenal hyperplasia, divided into 2 clinical groups simple virilising or salt wasting forms. Manifests with genital ambiguity in females and with adrenal insufficiency in both sexes. Girls present with ambiguous genitalia and the extent of virilisation can vary from a nearly male appearance to minimal clitoromegaly. A normal uterus and various degrees of abnormal vaginal development are seen. The external genitalia in boys are normal. The disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3. Follows an autosomal recessive pattern of inheritance. 900000000000017005 +3308879012 20160731 1 900000000000207008 717262004 en 900000000000550004 Deficient lacrimation ranging from a complete absence of tears to hyposecretion of tears that is present from birth. Prevalence is unknown. Transmission is usually autosomal recessive, but dominant transmission has also been described. Artificial tears are the first treatment option, needed to avoid corneal sequelae. 900000000000017005 +3308882019 20160731 1 900000000000207008 717263009 en 900000000000550004 A renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. 900000000000017005 +3308883012 20160731 1 900000000000207008 717263009 en 900000000000550004 A renal tubulopathy characterised by renal tubular resistance to aldosterone, characterised by hyponatraemia, metabolic acidosis and hyperkalaemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. 900000000000017005 +3308887013 20160731 1 900000000000207008 717264003 en 900000000000550004 A relatively severe form of brachyolmia with characteristics of short-trunk short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease in the spine, large joints and interphalangeal joints becomes manifest in adulthood. The precise prevalence of this form of brachyolmia is not known. About 30 cases have been reported. Patients with Brachyolmia type 3 generally have a normal birth weight and length. Heterozygous mutations in the TRPV4 gene (12q24.11) are responsible. Autosomal dominant mode of inheritance. 900000000000017005 +3308897016 20160731 1 900000000000207008 717266001 en 900000000000550004 This syndrome has characteristics of adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes. 900000000000017005 +3308901010 20160731 1 900000000000207008 717267005 en 900000000000550004 Compression of the left renal vein between the superior mesenteric artery and the abdominal aorta causing an increase in the pressure gradient between the left renal vein and the inferior vena cava. The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided haematuria. Most symptomatic cases present in the third or fourth decade of life, with women being more commonly affected than men. Three types of renal nutcracker syndrome have been defined: anterior nutcracker syndrome, posterior nutcracker syndrome and combined nutcracker syndrome. 900000000000017005 +3308902015 20160731 1 900000000000207008 717267005 en 900000000000550004 Compression of the left renal vein between the superior mesenteric artery and the abdominal aorta causing an increase in the pressure gradient between the left renal vein and the inferior vena cava. The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided hematuria. Most symptomatic cases present in the third or fourth decade of life, with women being more commonly affected than men. Three types of renal nutcracker syndrome have been defined: anterior nutcracker syndrome, posterior nutcracker syndrome and combined nutcracker syndrome. 900000000000017005 +3308909012 20160731 1 900000000000207008 717269008 en 900000000000550004 Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function. MC4R is a G protein-coupled receptor involved in the hypothalamic leptin-melanocortin signalling pathway. Activation of the MC4R plays a key role in the maintenance of energy homeostasis and is associated with suppression of food intake. 900000000000017005 +3308910019 20160731 1 900000000000207008 717269008 en 900000000000550004 Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinemia, in the presence of preserved reproductive function. MC4R is a G protein-coupled receptor involved in the hypothalamic leptin-melanocortin signalling pathway. Activation of the MC4R plays a key role in the maintenance of energy homeostasis and is associated with suppression of food intake. 900000000000017005 +3308930015 20160731 1 900000000000207008 717276003 en 900000000000550004 A very rare neonatal epileptic encephalopathy disorder with clinical characteristics of myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. 900000000000017005 +3308931016 20160731 1 900000000000207008 717276003 en 900000000000550004 A very rare neonatal epileptic encephalopathy disorder with clinical characteristics of myoclonic and clonic, or clonic seizures associated with apnoea occurring several hours to 5 days after birth and responding to folinic acid. 900000000000017005 +3309030011 20160731 1 900000000000207008 717186009 en 900000000000550004 An intestinal disease characterized by an overproduction of bile acids due to a synthesis defect which leads to chronic watery diarrhea. 900000000000017005 +3309031010 20160731 1 900000000000207008 717186009 en 900000000000550004 An intestinal disease characterised by an overproduction of bile acids due to a synthesis defect which leads to chronic watery diarrhoea. 900000000000017005 +3309065011 20160731 1 900000000000207008 717329009 en 900000000000550004 A rare benign tumor-like lesion. Approximately 140 cases have been reported worldwide, with a higher prevalence for male adults of Asian origin and subjects affected by systemic diseases such as rheumatoid arthritis. There are two clinical presentations. The active form most commonly manifests with abdominal pain, fever and loss of body weight. The second form is usually clinically silent. The etiopathogenesis remains unclear. 900000000000017005 +3309066012 20160731 1 900000000000207008 717329009 en 900000000000550004 A rare benign tumour-like lesion. Approximately 140 cases have been reported worldwide, with a higher prevalence for male adults of Asian origin and subjects affected by systemic diseases such as rheumatoid arthritis. There are two clinical presentations. The active form most commonly manifests with abdominal pain, fever and loss of body weight. The second form is usually clinically silent. The aetiopathogenesis remains unclear. 900000000000017005 +3309069017 20160731 1 900000000000207008 717330004 en 900000000000550004 Syndrome with characteristics of disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. The syndrome has been described among Venezuelan Indians of the Yukpa (Irapa) tribe and three siblings from a Mexican mestizo family. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. 900000000000017005 +3309072012 20160731 1 900000000000207008 717331000 en 900000000000550004 A very rare inherited form of thyroglossal duct cyst (TDC) with characteristics of a mass measuring 3cm in diameter or less in the midline area of the neck. 900000000000017005 +3309076010 20160731 1 900000000000207008 717332007 en 900000000000550004 Cerebellar ataxia Cayman type has characteristics of psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. The prevalence is unknown, but the disorder is very rare in the general population. However, a founder mutation has led to a high incidence in the Cayman island population. The disorder is transmitted as an autosomal recessive trait and is caused by mutations in the ATCAY gene (19p13.3), encoding Caytaxin. 900000000000017005 +3309080017 20160731 1 900000000000207008 717333002 en 900000000000550004 A type of transient congenital hypothyroidism a thyroid hormone deficiency that is not permanent. Patients may present with symptoms similar to those of permanent congenital hypothyroidism or they may be asymptomatic. It is caused by the transfer of maternal thyroid stimulating hormone (TSH) blocking antibodies, which can block the TSH receptor in the neonatal thyroid resulting in hypothyroidism in the infant. The effect can last up to 3-6 months after birth as maternal antibody levels fall. Treatment with l-thyroxine is usually required during this period. 900000000000017005 +3309083015 20160731 1 900000000000207008 717334008 en 900000000000550004 Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown. Clinical manifestations are those of other forms of congenital hypothyroidism. Goiter is always absent. Ultrasound examination and thyroid scintigraphy show a thyroid gland of normal shape and size in the normal, eutopic location. Idiopathic congenital hypothyroidism can be diagnosed after exclusion of the known causes of congenital hypothyroidism. 900000000000017005 +3309084014 20160731 1 900000000000207008 717334008 en 900000000000550004 Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown. Clinical manifestations are those of other forms of congenital hypothyroidism. Goitre is always absent. Ultrasound examination and thyroid scintigraphy show a thyroid gland of normal shape and size in the normal, eutopic location. Idiopathic congenital hypothyroidism can be diagnosed after exclusion of the known causes of congenital hypothyroidism. 900000000000017005 +3309089016 20160731 1 900000000000207008 717335009 en 900000000000550004 Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. The disorder has manifestations of facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. Most patients present a moderate intellectual deficit with some patients having a normal intelligence. Mosaic trisomy 8 is the result of a post-zygotic event. 900000000000017005 +3309095015 20160731 1 900000000000207008 717336005 en 900000000000550004 One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life associated with optic disc pallor, visual field and color vision defects. Later onset is possible. Visual impairment is usually moderate but may range from mild to severe. In about 20% of cases, extra-ocular signs are present, such as sensorineural hearing loss or other more severe neurological signs. Transmission is autosomal dominant with a penetrance of 50%. 900000000000017005 +3309096019 20160731 1 900000000000207008 717336005 en 900000000000550004 One of the most common forms of hereditary optic neuropathy characterised by progressive bilateral visual loss during the first decade of life associated with optic disc pallor, visual field and colour vision defects. Later onset is possible. Visual impairment is usually moderate but may range from mild to severe. In about 20% of cases, extra-ocular signs are present, such as sensorineural hearing loss or other more severe neurological signs. Transmission is autosomal dominant with a penetrance of 50%. 900000000000017005 +3309101019 20160731 1 900000000000207008 717337001 en 900000000000550004 Syndromic orbital border hypoplasia is a rare disorder observed in two families to date with characteristics of agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. 900000000000017005 +3309104010 20160731 1 900000000000207008 717338006 en 900000000000550004 A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behavior. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267. 900000000000017005 +3309105011 20160731 1 900000000000207008 717338006 en 900000000000550004 A chromosomal anomaly characterised by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behaviour. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267. 900000000000017005 +3309176013 20160731 1 900000000000207008 717256009 en 900000000000550004 Hypotrichosis simplex of the scalp (HSS) has manifestation of diffuse progressive hair loss that is confined to the scalp. Prevalence is unknown but HSS has been described in multiple members (males and females) of several large families. Progressive hair loss generally begins during the first decade of life and most patients are completely bald by the third decade of life. Body, axillary and facial hair, as well as the eyebrows and eyelashes are unaffected. There are no anomalies of the skin, nails and teeth. The causative gene CDSN (encoding the keratinocyte adhesion molecule, corneodesmosin) has been mapped to chromosome 6p21.3. Transmitted in an autosomal dominant manner. 900000000000017005 +3309178014 20160731 1 900000000000207008 717360009 en 900000000000550004 Pili bifurcati is an uncommon transitory hair shaft dysplasia with characteristic of segmental duplication of the hair shaft. Patients generally present with diffuse alopecia. Hypopigmentation can be observed. This anomaly of the hair shaft occurs in normal hair, pili canaliculi, or monilethrix and has been associated with the mosaic trisomy 8 syndrome, pseudomonilethrix type II or protein deficiency states. It can also be secondary to ulcerative colitis and extensive bowel resection. Caused by a transient duplication of the papilla's tip during the anagen phase, leading to the transitory production a two complete shafts, in the same follicular matrix, that emerge through a single pilary canal. When the two papilla tips fuse, both parallel branches form a single shaft again. When the transient duplication of the papilla tip occurs repetitively during the anagen phase, a series of bifurcation-fusion can be observed along the shaft. This situation is called pili multi-bifurcati. As a duplicated papilla tip can split again, a doubly bifurcated shaft may be observed: pili bi-bifurcati. 900000000000017005 +3309287011 20160731 1 900000000000207008 717407006 en 900000000000550004 Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. Both partial and total PAI-1 deficiencies are extremely rare disorders. PAI-1 is the physiological inhibitor of tissue-type plasminogen activator (t-PA), the main source of intravascular fibrinolysis. Affected patients carry one (heterozygote) or two (homozygote) alleles with a mutation in the SERPINE1 gene (7q22.1), resulting in partial or total antigenic PAI-1 deficiency. Transmitted as autosomal recessive traits. 900000000000017005 +3309288018 20160731 1 900000000000207008 717407006 en 900000000000550004 Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterised by premature lysis of haemostatic clots and a moderate bleeding tendency. Both partial and total PAI-1 deficiencies are extremely rare disorders. PAI-1 is the physiological inhibitor of tissue-type plasminogen activator (t-PA), the main source of intravascular fibrinolysis. Affected patients carry one (heterozygote) or two (homozygote) alleles with a mutation in the SERPINE1 gene (7q22.1), resulting in partial or total antigenic PAI-1 deficiency. Transmitted as autosomal recessive traits. 900000000000017005 +3309415014 20160731 1 900000000000207008 717459000 en 900000000000550004 An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. Prevalence is unknown, but is the second most common cause of neonatal hydronephrosis. About half of cases are asymptomatic and are discovered on routine antenatal ultrasound. The cause is unknown but it may be due to high fetal urine outflow, changes in the ureter pre and postnatal or transient anatomical obstructions that improve with postnatal development, such as ureteral folds. Not known to be hereditary, but families with more than one affected member have been described. 900000000000017005 +3309869018 20160731 1 900000000000207008 717632002 en 900000000000550004 A severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. 900000000000017005 +3309876011 20160731 1 900000000000207008 717633007 en 900000000000550004 A chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-esophageal and urogenital anomalies. 900000000000017005 +3309877019 20160731 1 900000000000207008 717633007 en 900000000000550004 A chromosomal anomaly characterised by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies. 900000000000017005 +3310288017 20160731 1 900000000000207008 718132003 en 900000000000550004 Navigational concept for more specifically defined nerve blocks blocking thoracic intercostal nerves, long thoracic nerve and thoracodorsal nerve. Typically performed by ultrasound guided placement into plane between pectoralis minor and serratus anterior. 900000000000017005 +3310372019 20170131 1 900000000000207008 717761005 en 900000000000550004 An X-linked retinal dystrophy, characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. 900000000000017005 +3310377013 20170131 1 900000000000207008 717761005 en 900000000000550004 An X-linked retinal dystrophy, characterised by choroideraemia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideraemia carrier state. 900000000000017005 +3310398013 20170131 1 900000000000207008 717763008 en 900000000000550004 An X-linked mental retardation syndrome belonging to the group of conditions with the association of intellectual deficit with hypotonic facies. Prevalence is unknown but the syndrome was first described in 1988 in three males (a 3-year-old boy and his two maternal uncles) from a family in which two other males had died in infancy/childhood. All affected males had a characteristic facies (bitemporal narrowness, almond-shaped palpebral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip and macrostomia). The surviving patients also had severe intellectual deficit, short stature, mild obesity, hypogonadism and a low total finger ridge count. The syndrome is caused by missense mutations in the ATRX gene (Xq13.3). Inheritance is X-linked recessive. 900000000000017005 +3310430016 20170131 1 900000000000207008 717765001 en 900000000000550004 A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalized in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known. 900000000000017005 +3310436010 20170131 1 900000000000207008 717765001 en 900000000000550004 A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalised overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalised in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known. 900000000000017005 +3310440018 20170131 1 900000000000207008 717771007 en 900000000000550004 This syndrome has characteristics of cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. It has been described in three siblings from one family. Dysmorphic features include protruding forehead, hypertelorism, broad nasal bridge, wide anterior fontanelle and short philtrum, down turning mouth, micrognathia and low-set ears. The limbs show rhizomelic shortening. Additional malformations are not constant: omphalocele, bilateral microphthalmia, cataract, narrow chest, ambiguous genitalia, cardiac ventricular septal defect and agenesis of the corpus callosum. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor. 900000000000017005 +3310443016 20160731 1 900000000000207008 717799003 en 900000000000550004 A rare balance disorder with characteristic of auditory and/or vestibular symptoms. This condition is caused by an opening (dehiscence) in the bone that overlays the superior semicircular canal within the inner ear. 900000000000017005 +3310496013 20160731 1 900000000000207008 312901001 en 900000000000550004 The following must be present on at least one OCT (Optical coherence tomography ) scan image: (i) Partial vitreous detachment as indicated by elevation of cortical vitreous above the retinal surface in the perifoveal area (ii) Persistent vitreous attachment. 900000000000017005 +3310496013 20200131 0 900000000000207008 312901001 en 900000000000550004 The following must be present on at least one OCT (Optical coherence tomography ) scan image: (i) Partial vitreous detachment as indicated by elevation of cortical vitreous above the retinal surface in the perifoveal area (ii) Persistent vitreous attachment. 900000000000017005 +3310517015 20170131 1 900000000000207008 717772000 en 900000000000550004 A multiple congenital anomalies syndrome with characteristics of cerebral, ocular, dental, auricular and skeletal anomalies. To date, three affected children (an unrelated Canadian girl and boy of Mennonite descent, and a girl from Brazil) have been reported. Characteristic features consist of psychomotor delay, cataracts, abnormally shaped teeth (including enamel projections extending from the tips of the cusps), delayed tooth eruption, malformed ears (over folded and crumpled ears), sensorineural hearing loss, short stature with marked epiphyseal dysplasia and an unusual facial phenotype. 900000000000017005 +3310621018 20160731 1 900000000000207008 718089001 en 900000000000550004 Reintubation of a patient due to acute respiratory failure following extubation. 900000000000017005 +3310739016 20160731 1 900000000000207008 717968005 en 900000000000550004 An extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumor, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumors, and in other cases, melanoma was a secondary cancer. The etiology of this tumor association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome. 900000000000017005 +3310740019 20160731 1 900000000000207008 717968005 en 900000000000550004 An extremely rare tumour association characterised by dual predisposition to melanoma and neural system tumours (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumour, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumours, and in other cases, melanoma was a secondary cancer. The aetiology of this tumour association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome. 900000000000017005 +3310746013 20160731 1 900000000000207008 717973004 en 900000000000550004 A recently described chromosomal abnormality with unclear clinical significance. Reported in fewer than 30 patients. The clinical phenotype is extremely variable and the most consistent features are mild or moderate intellectual deficit and microcephaly. These microduplications appear de novo or are inherited from mildly affected or completely normal parents. 900000000000017005 +3310752014 20160731 1 900000000000207008 717975006 en 900000000000550004 A form of autosomal dominant optic atrophy with characteristics of progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. 900000000000017005 +3310763012 20160731 1 900000000000207008 717977003 en 900000000000550004 Lissencephaly syndrome, Norman-Roberts type is the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Severe intellectual deficit, spasticity and epilepsy are also present. Mutations in the RELN gene (7q22) have been identified in some patients. Transmission is autosomal recessive. 900000000000017005 +3311010017 20160731 1 900000000000207008 718059008 en 900000000000550004 Pulse oximetry utilizing near infrared spectroscopy (NIRS) is commonly used in modern ICUs to provide a continuous measure of hemoglobin saturation and systemic oxygenation. 900000000000017005 +3311015010 20160731 1 900000000000207008 718060003 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 1-2 millimeters of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3311019016 20160731 1 900000000000207008 718062006 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 3-4 millimeters of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3311023012 20160731 1 900000000000207008 718060003 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 1-2 millimetres of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3311033016 20160731 1 900000000000207008 718064007 en 900000000000550004 Acute separation of the periodontal tissue from the root by 1-2 millimeters of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3311034010 20160731 1 900000000000207008 718064007 en 900000000000550004 Acute separation of the periodontal tissue from the root by 1-2 millimetres of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3311040015 20160731 1 900000000000207008 718065008 en 900000000000550004 Acute separation of the periodontal tissue from the root by 5 millimeters or more of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3311041016 20160731 1 900000000000207008 718065008 en 900000000000550004 Acute separation of the periodontal tissue from the root by 5 millimetres or more of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3311047017 20160731 1 900000000000207008 718066009 en 900000000000550004 Acute separation of the periodontal tissue from the root by 3-4 millimeters of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3311048010 20160731 1 900000000000207008 718066009 en 900000000000550004 Acute separation of the periodontal tissue from the root by 3-4 millimetres of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3311049019 20160731 1 900000000000207008 718061004 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 5 millimeters or more of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3311050019 20160731 1 900000000000207008 718061004 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 5 millimetres or more of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3311051015 20160731 1 900000000000207008 718062006 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 3-4 millimetres of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 +3311055012 20160731 1 900000000000207008 718067000 en 900000000000550004 Dental implant which has never achieved osseointegration. 900000000000017005 +3311097018 20160731 1 900000000000207008 718059008 en 900000000000550004 Pulse oximetry utilising near infrared spectroscopy (NIRS) is commonly used in modern ICUs to provide a continuous measure of haemoglobin saturation and systemic oxygenation. 900000000000017005 +3311112010 20160731 1 900000000000207008 718085007 en 900000000000550004 A patient under general anesthesia with muscle relaxation who cannot be intubated by direct laryngoscopy and in whom mask ventilation is difficult and impossible. 900000000000017005 +3311113017 20160731 1 900000000000207008 718085007 en 900000000000550004 A patient under general anaesthesia with muscle relaxation who cannot be intubated by direct laryngoscopy and in whom mask ventilation is difficult and impossible. 900000000000017005 +3311119018 20160731 1 900000000000207008 710961002 en 900000000000550004 When positioning patient in bed, involves the use of any of several support devices designed to help ensure proper body alignment and to make the patient more comfortable. Some of these are pillows, foot boards, trochanter rolls and hand rolls. 900000000000017005 +3311144014 20160731 1 900000000000207008 718095000 en 900000000000550004 Describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip and palate, omphalocele and congenital diaphragmatic hernia . These anomalies are associated at a higher frequency than would be expected with random combination rates. 900000000000017005 +3311149016 20160731 1 900000000000207008 718096004 en 900000000000550004 A rare disorder with characteristics of sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding. Most commonly, the condition is detected in investigating a fortuitous finding of hypersplenism or splenomegaly. Main histopathologic findings are periportal fibrosis, occlusion of small portal veins, sclerosis of the portal venous system, and proliferation of small vascular channels within/around portal tracts. The disease is slowly progressive. Exposure to toxic substances or drugs, autoimmune and connective tissue diseases, systemic or intraabdominal infections, and clotting abnormalities have been incriminated. A genetic background has been suggested. 900000000000017005 +3311156010 20160731 1 900000000000207008 718097008 en 900000000000550004 A reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung. 900000000000017005 +3311165015 20160731 1 900000000000207008 718099006 en 900000000000550004 A developmental defect with manifestation of variable intramembranous ossification defects of the parietal bones, which is asymptomatic, symptomatic or associated with other pathologies. A congenital disorder caused by insufficient ossification around the parietal notch. In most cases this results from heterozygous loss of function mutations in human homeobox genes, MSX2 (5q35.2) and ALX4 (11p11.2), which encode transcription factors involved in skeletal development. Transmission is autosomal dominant with high but incomplete penetrance. 900000000000017005 +3311171014 20160731 1 900000000000207008 718182008 en 900000000000550004 Congenital multiple pituitary hormone deficiency including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Rare when compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. Clinical presentation is variable, depending on the type and severity of deficiencies and on the age at diagnosis. If untreated, main symptoms include short stature, cognitive alterations or delayed puberty. Due to mutations of several genes encoding pituitary transcription factors. A diagnosis must be suspected when evident causes of hypopituitarism have been ruled out. Type of transmission varies with the factor and the mutation involved. 900000000000017005 +3311181013 20160731 1 900000000000207008 718103001 en 900000000000550004 A movement disorder with manifestation of episodes of involuntary tremor of the chin and lower lip. The disorder has been described in less than 25 families from Europe and the USA, with a slight male preponderance. Onset usually occurs in childhood and may be precipitated by stress and emotion. Episodes may occur during sleep. There are no associated neurological abnormalities. Spontaneous improvement with age is possible. Inheritance is autosomal dominant. 900000000000017005 +3311182018 20160731 1 900000000000207008 251727006 en 900000000000550004 Observation of appearance of angle of anterior chamber. 900000000000017005 +3311186015 20160731 1 900000000000207008 718104007 en 900000000000550004 A very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which has characteristic of a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death. 900000000000017005 +3311191019 20160731 1 900000000000207008 718105008 en 900000000000550004 A rare chronic form of cutaneous amyloidosis, a skin disease with characteristics of the accumulation of amyloid deposits in the dermis. Clinical manifestations include the development of pruritic, often pigmented hyperkeratotic papules on trunk and extremities, especially on the shins. Histological findings include the deposition of amyloid or amyloid-like proteins in the papillary dermis. 900000000000017005 +3311195011 20160731 1 900000000000207008 718106009 en 900000000000550004 A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur. 900000000000017005 +3311196012 20160731 1 900000000000207008 718106009 en 900000000000550004 A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterised by an excessive uncontrolled insulin secretion (inappropriate for the level of glycaemia), asymptomatic hyperammonaemia and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycaemia may also occur. 900000000000017005 +3311200019 20160731 1 900000000000207008 718107000 en 900000000000550004 A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhea and failure to thrive. The disease is characterized by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive. 900000000000017005 +3311201015 20160731 1 900000000000207008 718107000 en 900000000000550004 A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhoea and failure to thrive. The disease is characterised by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive. 900000000000017005 +3311232019 20160731 1 900000000000207008 718122005 en 900000000000550004 Piebaldism is a rare congenital pigmentation skin disorder with characteristic of the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. 900000000000017005 +3311237013 20160731 1 900000000000207008 718124006 en 900000000000550004 A very rare mitochondrial disease with clinical characteristic of cardioencephalomyopathy resulting in death in infancy. 900000000000017005 +3311247011 20160731 1 900000000000207008 718128009 en 900000000000550004 A rare entity usually diagnosed by echocardiography. It may be limited to one of the four valves but can also involve the two atrioventricular valves and the two semilunar valves. May be the hallmark of genetic anomalies. Chromosomal anomalies should be searched when polyvalvular dysplasia is found in a fetus, namely trisomy 18 and trisomy 13. Triscuspid valve dysplasia can be the only cardiac finding in trisomy 21 and a karyotype analysis should be performed in all fetuses exhibiting this anomaly. In the absence of chromosomal anomalies, polyvalvular dysplasia can be observed in Noonan syndrome. Thickening of the different cardiac valves can be observed in various storage diseases such as mucopolysaccharidoses. In these later conditions, it develops after the neonatal period and is frequently associated with extracardiac symptoms suggestive of the diagnosis. 900000000000017005 +3311247011 20200731 0 900000000000207008 718128009 en 900000000000550004 A rare entity usually diagnosed by echocardiography. It may be limited to one of the four valves but can also involve the two atrioventricular valves and the two semilunar valves. May be the hallmark of genetic anomalies. Chromosomal anomalies should be searched when polyvalvular dysplasia is found in a fetus, namely trisomy 18 and trisomy 13. Triscuspid valve dysplasia can be the only cardiac finding in trisomy 21 and a karyotype analysis should be performed in all fetuses exhibiting this anomaly. In the absence of chromosomal anomalies, polyvalvular dysplasia can be observed in Noonan syndrome. Thickening of the different cardiac valves can be observed in various storage diseases such as mucopolysaccharidoses. In these later conditions, it develops after the neonatal period and is frequently associated with extracardiac symptoms suggestive of the diagnosis. 900000000000017005 +3311265010 20160731 1 900000000000207008 718135001 en 900000000000550004 A rare congenital heart malformation with characteristics of underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. Manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. 900000000000017005 +3311281017 20160731 1 900000000000207008 718141008 en 900000000000550004 Nephrotic syndrome with often-early onset defined by severe proteinuria with low serum albumin and possible edema. This disease is rare but severe as it usually progresses to end-stage renal failure. Mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure. 900000000000017005 +3311282012 20160731 1 900000000000207008 718141008 en 900000000000550004 Nephrotic syndrome with often-early onset defined by severe proteinuria with low serum albumin and possible oedema. This disease is rare but severe as it usually progresses to end-stage renal failure. Mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure. 900000000000017005 +3311375011 20160731 1 900000000000207008 718174008 en 900000000000550004 Comprises of several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus with characteristics of developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. Can be familial or sporadic. The familial form has an insidious onset and a slowly progressive downhill course, while the sporadic form is associated with abrupt neurologic dysfunction following an acute systemic febrile illness such as a mycoplasma, measles or streptococcus infection. Familial disease can be inherited as an autosomal recessive or mitochondrial disorder. 900000000000017005 +3311384011 20160731 1 900000000000207008 718176005 en 900000000000550004 Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy with manifestations of limb-girdle weakness, calf hypertrophy, diaphragmatic weakness and variable cardiac abnormalities. Ambulation may be lost by the age 12. 900000000000017005 +3311387016 20160731 1 900000000000207008 718177001 en 900000000000550004 Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a limb-girdle muscular dystrophy with manifestations of limb-girdle weakness, cardiomyopathy and respiratory impairment. LGMD2F is caused by a deficit of a sarcoglycan protein and therefore belongs to a group of disorders named sarcoglycanopathy. 900000000000017005 +3311390010 20160731 1 900000000000207008 718178006 en 900000000000550004 Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a laminopathy with characteristics of progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild joint contractures and age-related atrioventricular cardiac conduction disturbances. Dilated cardiomyopathy is frequently associated. 900000000000017005 +3311395017 20160731 1 900000000000207008 718179003 en 900000000000550004 Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy with characteristics of limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved. 900000000000017005 +3311399011 20160731 1 900000000000207008 718180000 en 900000000000550004 Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy with characteristics of proximal limb girdle weakness predominant in the legs together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. 900000000000017005 +3311402012 20160731 1 900000000000207008 718181001 en 900000000000550004 A very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse. Often associated with other cardiac abnormalities but is mostly an isolated anomaly. It is mostly found in infants and children and occasionally as an incidental finding in adults. Two types are described: fibrous and muscular. The etiology of congenital cardiac diverticulum is not known. Hemodynamic factors may play a role. 900000000000017005 +3311403019 20160731 1 900000000000207008 718181001 en 900000000000550004 A very rare congenital malformation characterised by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening haemodynamic collapse. Often associated with other cardiac abnormalities but is mostly an isolated anomaly. It is mostly found in infants and children and occasionally as an incidental finding in adults. Two types are described: fibrous and muscular. The aetiology of congenital cardiac diverticulum is not known. Haemodynamic factors may play a role. 900000000000017005 +3311411012 20160731 1 900000000000207008 718183003 en 900000000000550004 A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goiter. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance. 900000000000017005 +3311412017 20160731 1 900000000000207008 718183003 en 900000000000550004 A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goitre. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance. 900000000000017005 +3311427017 20160731 1 900000000000207008 718188007 en 900000000000550004 A rare chromosomal anomaly with clinical manifestations of mild to severe intellectual deficit, severe developmental delay, hypotonia with tendency to develop progressive hypertonia over time, minor facial anomalies and agenesis of the corpus callosum. Thirty to fifty percent of individuals have autism. An inverted duplication with a terminal deletion of the short arm of chromosome 8 mostly occurs as either an inverted duplication from centromere to D8S552 with a pter deletion from D8S349 or as an inverted duplication from 8p11.2 or 8p21 to D8S552, with a telomeric deletion from D8349. The input of the 8p deletion to the clinical picture appears less significant than the 8p inversion duplication rearrangement. To date, all invdupdel(8p) have occurred de novo. 900000000000017005 +3311434015 20160731 1 900000000000207008 718189004 en 900000000000550004 Recombinant 8 syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 with characteristics of major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. The prevalence is unknown but the syndrome is rare. 900000000000017005 +3311449011 20160731 1 900000000000207008 718192000 en 900000000000550004 A rare cause of glomerulonephritis characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, and mainly presenting with renal insufficiency, micro-hematuria and nephritic range proteinuria. Etiology is unknown. The disease is generally considered idiopathic but it may be associated with secondary causes such as monoclonal or oligoclonal gammopathy, hepatitis B and C infections, autoimmune diseases and malignancies. 900000000000017005 +3311450011 20160731 1 900000000000207008 718192000 en 900000000000550004 A rare cause of glomerulonephritis characterised by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, and mainly presenting with renal insufficiency, micro-haematuria and nephritic range proteinuria. Aetiology is unknown. The disease is generally considered idiopathic but it may be associated with secondary causes such as monoclonal or oligoclonal gammopathy, hepatitis B and C infections, autoimmune diseases and malignancies. 900000000000017005 +3311454019 20160731 1 900000000000207008 718193005 en 900000000000550004 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. 900000000000017005 +3311454019 20200731 0 900000000000207008 718193005 en 900000000000550004 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. 900000000000017005 +3311455018 20160731 1 900000000000207008 718193005 en 900000000000550004 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. 900000000000017005 +3311455018 20200731 0 900000000000207008 718193005 en 900000000000550004 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. 900000000000017005 +3311458016 20160731 1 900000000000207008 718194004 en 900000000000550004 A permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q). 900000000000017005 +3311459012 20160731 1 900000000000207008 718194004 en 900000000000550004 A permanent thyroid deficiency that is present from birth, characterised by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. Goitre is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q). 900000000000017005 +3311465012 20160731 1 900000000000207008 718195003 en 900000000000550004 A familial form of essential thrombocythemia, a myeloproliferative disorder characterized by a sustained elevation of platelet number with a tendency for thrombosis and hemorrhage. Patients commonly manifest microcirculatory disturbances or vaso-motor events. The disease is less frequently associated with an increased risk of hemorrhage, mild splenomegaly, and progression towards myelofibrosis with myeloid metaplasia or transformation to leukemia. The genetic cause of the inherited predisposition is not known. Transmission appears to be autosomal dominant with incomplete penetrance. 900000000000017005 +3311466013 20160731 1 900000000000207008 718195003 en 900000000000550004 A familial form of essential thrombocythaemia, a myeloproliferative disorder characterised by a sustained elevation of platelet number with a tendency for thrombosis and haemorrhage. Patients commonly manifest microcirculatory disturbances or vaso-motor events. The disease is less frequently associated with an increased risk of haemorrhage, mild splenomegaly, and progression towards myelofibrosis with myeloid metaplasia or transformation to leukaemia. The genetic cause of the inherited predisposition is not known. Transmission appears to be autosomal dominant with incomplete penetrance. 900000000000017005 +3311474014 20160731 1 900000000000207008 718196002 en 900000000000550004 A form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. Prevalence of this form is not known. The disorder is not associated with mutations in the HBB gene (11p15.5), but with mutations in the gene encoding GATA-binding protein-1 (GATA1; Xp11.23) that result in reduced expression of the beta-globin genes. Transmission is X-linked. 900000000000017005 +3311475010 20160731 1 900000000000207008 718196002 en 900000000000550004 A form of beta-thalassaemia characterised by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassaemia. Prevalence of this form is not known. The disorder is not associated with mutations in the HBB gene (11p15.5), but with mutations in the gene encoding GATA-binding protein-1 (GATA1; Xp11.23) that result in reduced expression of the beta-globin genes. Transmission is X-linked. 900000000000017005 +3311484010 20160731 1 900000000000207008 718200007 en 900000000000550004 A rare lymphoma of the lung defined as a clonal lymphoid proliferation affecting one or both lungs in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. Comprises low grade/indolent B cell forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell and lymphomatoid granulomatosis. Very rare and represents only 3-4% of extranodal non-Hodgkin lymphoma. 900000000000017005 +3311518015 20160731 1 900000000000207008 718210003 en 900000000000550004 A very rare recessive X-linked biogenic amine metabolism disorder with clinical characteristics of mild intellectual deficit, impulsive aggressiveness, sometimes violent behavior and presenting from childhood. 900000000000017005 +3311519011 20160731 1 900000000000207008 718210003 en 900000000000550004 A very rare recessive X-linked biogenic amine metabolism disorder with clinical characteristics of mild intellectual deficit, impulsive aggressiveness, sometimes violent behaviour and presenting from childhood. 900000000000017005 +3311524014 20160731 1 900000000000207008 718211004 en 900000000000550004 A form of Ehlers-Danlos syndrome with characteristics of hypotonia, kyphoscoliosis at birth and joint hyperextensibility. 900000000000017005 +3311526011 20160731 1 900000000000207008 718212006 en 900000000000550004 Characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. Most patients who survive the neonatal period have mild cranio-facial dysmorphism with low set ears, prominent nasal bridge and retrognathia, persisting muscular hypotonia and moderate psychomotor developmental delay. The result of an isolated decrease in the tissue content and activity of mitochondrial FoF1 ATP synthase caused by depressed biosynthesis of the enzyme. This enzyme defect is present in all tissues and is due to autosomal recessive mutations in the TMEM70 gene (8q21.11), encoding ancillary factor of ATP synthase biogenesis. 900000000000017005 +3311527019 20160731 1 900000000000207008 718212006 en 900000000000550004 Characterised by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apnoeic spells within hours after birth accompanied by lactic acidosis, hyperammonaemia and 3-methylglutaconic aciduria. Most patients who survive the neonatal period have mild cranio-facial dysmorphism with low set ears, prominent nasal bridge and retrognathia, persisting muscular hypotonia and moderate psychomotor developmental delay. The result of an isolated decrease in the tissue content and activity of mitochondrial FoF1 ATP synthase caused by depressed biosynthesis of the enzyme. This enzyme defect is present in all tissues and is due to autosomal recessive mutations in the TMEM70 gene (8q21.11), encoding ancillary factor of ATP synthase biogenesis. 900000000000017005 +3311530014 20160731 1 900000000000207008 718213001 en 900000000000550004 A demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait. 900000000000017005 +3311531013 20160731 1 900000000000207008 718213001 en 900000000000550004 A demyelinating polyneuropathy characterised clinically by sensory ataxia, tremor, paraesthesia, and impaired gait. 900000000000017005 +3311535016 20160731 1 900000000000207008 718214007 en 900000000000550004 Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibers with mitochondrial proliferation (ragged-red fibers) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). 900000000000017005 +3311536015 20160731 1 900000000000207008 718214007 en 900000000000550004 Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibres with mitochondrial proliferation (ragged-red fibres) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). 900000000000017005 +3311541011 20160731 1 900000000000207008 718215008 en 900000000000550004 A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. It is a very rare disease but the exact prevalence is not known. It mainly affects women during adulthood (30-60 years of age). Scarring alopecia presents as small confluent patches that are atrophic and cicatricial in the center but erythematous and squamous around the edges. Follicular keratosis presents as pruritic, red-brown, follicular spiny papules on the trunk and extremities. Generally, the three clinical features appear simultaneously but in some cases, scalp alopecia precedes the follicular keratosis. Etiology is unknown. 900000000000017005 +3311542016 20160731 1 900000000000207008 718215008 en 900000000000550004 A variant of lichen planopilaris characterised by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. It is a very rare disease but the exact prevalence is not known. It mainly affects women during adulthood (30-60 years of age). Scarring alopecia presents as small confluent patches that are atrophic and cicatricial in the centre but erythematous and squamous around the edges. Follicular keratosis presents as pruritic, red-brown, follicular spiny papules on the trunk and extremities. Generally, the three clinical features appear simultaneously but in some cases, scalp alopecia precedes the follicular keratosis. Aetiology is unknown. 900000000000017005 +3311546018 20160731 1 900000000000207008 718216009 en 900000000000550004 A congenital heart malformation characterized by an atrial septal defect, clefts of mitral and occasionally tricuspid valves, two separate atrioventricular valve annuli and an intact ventricular septum. The typical symptoms are impaired exercise capacity and exertional dyspnea. The age of onset is variable, but clinical features may not appear until later in life. In contrast to the complete form, patients with partial atrioventricular canal have two separate AV valves, (resulting from fusion of the superior and inferior bridging leaflets), and no large intraventricular communication. 900000000000017005 +3311547010 20160731 1 900000000000207008 718216009 en 900000000000550004 A congenital heart malformation characterised by an atrial septal defect, clefts of mitral and occasionally tricuspid valves, two separate atrioventricular valve annuli and an intact ventricular septum. The typical symptoms are impaired exercise capacity and exertional dyspnoea. The age of onset is variable, but clinical features may not appear until later in life. In contrast to the complete form, patients with partial atrioventricular canal have two separate AV valves, (resulting from fusion of the superior and inferior bridging leaflets), and no large intraventricular communication. 900000000000017005 +3311553010 20160731 1 900000000000207008 718217000 en 900000000000550004 A small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Can be idiopathic (up to 50% of cases) or secondary to infection, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms. 900000000000017005 +3311554016 20160731 1 900000000000207008 718217000 en 900000000000550004 A small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, haemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhoea, haematochezia, paraesthesia, weakness, and haematuria may be observed. Can be idiopathic (up to 50% of cases) or secondary to infection, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms. 900000000000017005 +3311557011 20160731 1 900000000000207008 718218005 en 900000000000550004 A rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized. The prevalence is unknown but it is one of the rarest forms of porokeratosis. The disease is more frequently seen in males. The exact etiology is unknown. A possible locus for PPPD has been found on chromosome 12q24.1-24.2. Usually follows a dominant (autosomal or X-linked) pattern of inheritance. 900000000000017005 +3311558018 20160731 1 900000000000207008 718218005 en 900000000000550004 A rare form of porokeratosis occurring mainly in adolescence and characterised by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalised. The prevalence is unknown but it is one of the rarest forms of porokeratosis. The disease is more frequently seen in males. The exact aetiology is unknown. A possible locus for PPPD has been found on chromosome 12q24.1-24.2. Usually follows a dominant (autosomal or X-linked) pattern of inheritance. 900000000000017005 +3311565014 20160731 1 900000000000207008 718219002 en 900000000000550004 A mitochondrial disease, a French Canadian form of Leigh syndrome, with characteristics of chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. It was first described in Saguenay-Lac-Saint-Jean (Quebec, Canada) in this region the prevalence of the gene mutation underlying the disorder is estimated to be 1/23 inhabitants and may be due to a founder effect. There are 3 forms of the disease corresponding to varying degrees of severity: a neonatal form, a classic form and a so-called survivor form. Survivor form describes those who have survived several episodes, cross a critical threshold and show less severe symptoms. Caused by two types of mutations in the LRPPRC gene (2p21). The disease follows a monogenic autosomal recessive pattern of inheritance. 900000000000017005 +3311567018 20160731 1 900000000000207008 718220008 en 900000000000550004 Breast cancer is the most common cancer in women, accounting for 25% of all new cases of cancer. Most cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition. Autosomal dominant alterations in two genes, BRCA1 and BRCA2, are likely to account for most familial cases of early-onset breast and/or ovarian cancer and for 3-4% of all breast cancer. The lifetime risk of developing hereditary breast cancer and/or ovarian cancer can reach 80%. For a given mutation in the susceptibility gene, disease severity and age at onset show great variability within and between breast cancer families, suggesting the involvement of other genetic as well as non-genetic factors. 900000000000017005 +3311571015 20160731 1 900000000000207008 718221007 en 900000000000550004 Behr syndrome includes an optic atrophy associated with neurological manifestations. This syndrome is clinically similar to Costeff syndrome but can be distinguished by the absence of metabolic abnormalities. This inherited disorder is transmitted following an autosomal recessive pattern. The optic atrophy is responsible for a moderate to severe visual impairment that appears early in life. The neurological manifestations can include myoclonic epilepsy, progressive spastic paraplegia due to pyramidal tract involvement, dysarthria, extra-pyramidal tract signs, ataxia, urinary incontinence, mental retardation, posterior column sensory loss or muscle contractures. 900000000000017005 +3311576013 20160731 1 900000000000207008 718222000 en 900000000000550004 A rare genetic malformation disorder with characteristics of cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. Associated with mutations in the IRF6 gene (1q32.2-q32.3) which is involved in the formation of connective and epithelial tissues. Follows an autosomal dominant pattern of inheritance. 900000000000017005 +3311584012 20160731 1 900000000000207008 718224004 en 900000000000550004 A rare acquired disorder with characteristics of unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. Usually presents during the first 20 years of life and may start with alopecia, hair hypopigmentation, and atrophy. May extend to the upper lip and or one side of the tongue and the masticatory muscles, resulting in deviation of the nose and or mouth toward the affected side. Rarely both sides of the face and the skin on the arms/trunk/leg or the entire body may be involved. Autoimmunity may be a cause along with facial or head trauma, meningoencephalitis, abnormal development or hyperactivity of the sympathetic nervous system, neuro-vasculitis, angiogenesis anomalies, and slow viral infections. Sporadic but rare familial cases have been reported. 900000000000017005 +3311590011 20160731 1 900000000000207008 718226002 en 900000000000550004 Wolf-Hirschhorn syndrome is a developmental disorder with characteristics of typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Caused by a deletion in the short arm of the 4th chromosome (4p16.3 region), including at least part of the LETM1 and WHSC1 genes. Most cases are sporadic, but an unbalanced translocation may be inherited from a parent with a balanced rearrangement. 900000000000017005 +3311593013 20160731 1 900000000000207008 718227006 en 900000000000550004 A chromosomal anomaly with characteristics of developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. The proximal 16p11.2 microdeletion syndrome most commonly refers to a distinct deletion of approximately 593 kb at chromosomal coordinates 29.5-30.1 Mb comprising 24 genes. The relationship between genotype and clinical phenotype remains elusive. 900000000000017005 +3311601014 20160731 1 900000000000207008 718228001 en 900000000000550004 Fetal iodine syndrome is a group of symptoms that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (excessive or insufficient) amounts of iodine, a nonmetallic halogen element. Maternal iodine can be readily transferred to the fetus, and chronic maternal exposure to iodine can lead to hypothyroidism and goiter in the offspring. The majority of the reported fatalities caused by iodine intoxication resulted from the use of iodine-containing expectorants during pregnancy. Based on these observations, the repeated or routine use of iodine-containing products is not recommended during pregnancy. In addition to the problems associated with iodine intoxication, iodine deficiency during pregnancy may be severe enough to produce hypothyroidism in the fetus. 900000000000017005 +3311602019 20160731 1 900000000000207008 718228001 en 900000000000550004 Fetal iodine syndrome is a group of symptoms that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (excessive or insufficient) amounts of iodine, a nonmetallic halogen element. Maternal iodine can be readily transferred to the fetus, and chronic maternal exposure to iodine can lead to hypothyroidism and goitre in the offspring. The majority of the reported fatalities caused by iodine intoxication resulted from the use of iodine-containing expectorants during pregnancy. Based on these observations, the repeated or routine use of iodine-containing products is not recommended during pregnancy. In addition to the problems associated with iodine intoxication, iodine deficiency during pregnancy may be severe enough to produce hypothyroidism in the fetus. 900000000000017005 +3311609011 20160731 1 900000000000207008 718230004 en 900000000000550004 A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of a complete deficiency in interferon gamma receptor 1(IFN-gammaR1), leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin and other environmental mycobacteria. Infection is disseminated and can involve soft tissue, bone marrow, lungs, skin, bones and lymph nodes. Manifestations include fever, weight loss, hepatosplenomegaly, lymphadenopathies and lepromatous-like lesions. Caused by complete IFN-gammaR1 deficiency due to mutations in the IFNGR1 gene on chromosome 6q23-q24. Transmission is autosomal recessive. 900000000000017005 +3311617015 20160731 1 900000000000207008 718232007 en 900000000000550004 A primary immunodeficiency with characteristics of increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. Only 24 cases have been reported. The disease presents in childhood with recurrent, life-threatening, pyogenic bacterial infections. This predisposition to life-threatening infections seems transient and lasts during the first 10 years of life in the cases reported so far. Myeloid differentiation primary response 88 (MyD88) deficiency results from mutations in the MYD88 gene (3p22-3p21.3) which generally abolishes the cytokine responses of the blood cells. Transmission is autosomal recessive. 900000000000017005 +3311782013 20160731 1 900000000000207008 717907002 en 900000000000550004 Activities performed to support interest in leisure activities or play. Such activities are designed for patients who lack interest or do not care to engage in leisure activities in the hospital. 900000000000017005 +3311905019 20160731 1 900000000000207008 718329006 en 900000000000550004 A route that begins with diffusion or accumulation in a tissue or cells. 900000000000017005 +3311963011 20160731 1 900000000000207008 5491000179105 en 900000000000550004 A consolidation of the previous health records of a patient. 900000000000017005 +3311970011 20160731 1 900000000000207008 6301000124105 en 900000000000550004 A cephalometric plane between soft tissue components of the head. 900000000000017005 +3312132014 20160731 1 900000000000207008 718393002 en 900000000000550004 A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfil all the diagnostic criteria for typical Rett syndrome. Several subvariants have been defined; the early-onset seizure type (Hanefeld), congenital variant (Rolando), the 'forme fruste' type, the late childhood regression form and the preserved speech variant (PSD or Zappella variant). Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett originally defined by Hagberg in 1994: an atypical case must meet at least three of the six main criteria and at least five of the eleven supportive criteria. 900000000000017005 +3312294018 20160731 1 900000000000207008 718444008 en 900000000000550004 Injection of local anesthetic into tissue planes between the pectoralis muscles and between pectoralis minor and serratus anterior. 900000000000017005 +3312295017 20160731 1 900000000000207008 718444008 en 900000000000550004 Injection of local anaesthetic into tissue planes between the pectoralis muscles and between pectoralis minor and serratus anterior. 900000000000017005 +3312302011 20160731 1 900000000000207008 718446005 en 900000000000550004 The clinical situation in which a conventionally trained anesthesiologist experiences difficulty with mask ventilation, difficulty with tracheal intubation or both. 900000000000017005 +3312303018 20160731 1 900000000000207008 718446005 en 900000000000550004 The clinical situation in which a conventionally trained anaesthesiologist experiences difficulty with mask ventilation, difficulty with tracheal intubation or both. 900000000000017005 +3312327016 20170131 1 900000000000207008 717285003 en 900000000000550004 Vascular system care refers to the care of patients with vascular system problems and venous disease e.g. varicose veins, thrombophlebitis, or deep venous thrombosis (DVT). 900000000000017005 +3312340014 20160731 1 900000000000207008 718460007 en 900000000000550004 Polish NRC 900000000000017005 +3312340014 20170731 0 900000000000207008 718460007 en 900000000000550004 Polish NRC 900000000000017005 +3312347012 20160731 1 900000000000207008 718462004 en 900000000000550004 Human Longevity Inc. 900000000000017005 +3312347012 20170731 0 900000000000207008 718462004 en 900000000000550004 Human Longevity Inc. 900000000000017005 +3312382013 20160731 1 900000000000207008 718481007 en 900000000000550004 Cardiac auscultation area at fifth left intercostal space close to left mid-clavicular line. 900000000000017005 +3312383015 20160731 1 900000000000207008 718483005 en 900000000000550004 Cardiac auscultation area at fourth, fifth left intercostal space close to left sternal border. 900000000000017005 +3312394016 20160731 1 900000000000207008 718479005 en 900000000000550004 Cardiac auscultation area at second left intercostal space close to left sternal border. 900000000000017005 +3312400019 20160731 1 900000000000207008 718480008 en 900000000000550004 Cardiac auscultation area at second right intercostal space close to right sternal border. 900000000000017005 +3312402010 20160731 1 900000000000207008 715769008 en 900000000000550004 A very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips. 900000000000017005 +3312456015 20160731 1 900000000000207008 718497002 en 900000000000550004 This attribute specifies the location of the entity specified by the attribute "Inheres in". 900000000000017005 +3312456015 20170131 1 900000000000012004 718497002 en 900000000000550004 This attribute specifies the location of the entity specified by the attribute "Inheres in". 900000000000017005 +3312471016 20160731 1 900000000000207008 251721007 en 900000000000550004 Observation of patency of angle of anterior chamber. 900000000000017005 +3312736015 20170131 1 900000000000207008 718552009 en 900000000000550004 A rare and isolated orofacial defect with manifestation of incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family. 900000000000017005 +3312739010 20170131 1 900000000000207008 718553004 en 900000000000550004 A platelet granule disorder with manifestation of thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding. 900000000000017005 +3312743014 20170131 1 900000000000207008 718554005 en 900000000000550004 A platelet granule disorder with manifestation of thrombocytopenia with giant platelets resulting in increased propensity for bleeding. 900000000000017005 +3312746018 20170131 1 900000000000207008 718555006 en 900000000000550004 A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. The disease is usually slowly progressive and some patients have been reported to become bedridden by 12 to 50 years of age. Mutations in the following genes have been found in patients ALS2 (2q33-q35), and rarely SIGMAR1 (9p13.3), SPG11 (15q13-q15) and FUS (16p11.2). 900000000000017005 +3312753010 20170131 1 900000000000207008 718556007 en 900000000000550004 A rare multiple congenital anomalies syndrome with characteristics of craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. To date less than 50 cases have been described. The exact cause is still unknown but mutations in KIAA0196 (8q24.13; coding for strumpellin) have been identified. Sporadic and familial cases have been reported. Transmission is autosomal recessive. Phenotypic variability exists between siblings. 900000000000017005 +3312761017 20170131 1 900000000000207008 718558008 en 900000000000550004 A rare, very severe form of mevalonate kinase deficiency with characteristics of dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. 900000000000017005 +3312764013 20170131 1 900000000000207008 718559000 en 900000000000550004 An autosomal recessively inherited form of acromesomelic dysplasia with characteristics of severe dwarfism (adult height less than 120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening) and with normal facial appearance and intelligence. 900000000000017005 +3312802015 20170131 1 900000000000207008 718551002 en 900000000000550004 An exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It has characteristics of the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with Moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon and livedo reticularis. 900000000000017005 +3312805018 20170131 1 900000000000207008 718572004 en 900000000000550004 A benign autosomal dominant form of slowly progressive muscular dystrophy. To date, fewer than 100 cases have been reported in the literature, thus illustrating its rarity. The clinical features do not differ markedly from those of other mild forms of progressive muscular dystrophy with the exception of finger contractures that are sometimes suggestive of the diagnosis. Creatine kinase levels and histological findings are not conclusive. Mutations in one of the three subunits of collagen VI are responsible for the disease. Molecular studies are however hampered by the size and expression pattern of the genes. Treatment remains purely supportive. 900000000000017005 +3312808016 20170131 1 900000000000207008 718573009 en 900000000000550004 An extremely rare genetic syndrome, reported in a few families to date with characteristics of the association of microcephaly, intellectual deficit and achalasia. Symptoms of achalasia include coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood. 900000000000017005 +3312813017 20170131 1 900000000000207008 718574003 en 900000000000550004 A multiple congenital anomalies syndrome with manifestations of cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature and radio-ulnar synostosis. To date, 4 cases have been described in the literature. These manifestations overlap with those of CHARGE syndrome, however, in contrast to CHARGE syndrome, patients with Abruzzo-Erikson syndrome do not show intellectual disability, choanal atresia or genital hypoplasia. Inherited in an X-linked recessive manner, with a carrier female having a 50% chance of transmitting the mutation to her offspring. 900000000000017005 +3312817016 20170131 1 900000000000207008 718575002 en 900000000000550004 An extremely rare multiple congenital malformation syndrome with the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay in two thirds of cases. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. 900000000000017005 +3312822016 20170131 1 900000000000207008 718576001 en 900000000000550004 A very rare genetic disorder with characteristics of the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate and severe joint contractures. Less than 20 cases have been reported in the literature. The fingers are thin with absent knuckles and reduced creases over the joints and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot. There are currently no human genes associated with this disease. 900000000000017005 +3312824015 20170131 1 900000000000207008 718577005 en 900000000000550004 Atkin-Flaitz syndrome has characteristics of moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked. 900000000000017005 +3312831016 20170131 1 900000000000207008 718579008 en 900000000000550004 A rare subtype of posterior corneal dystrophy with characteristics of congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Prevalence of this rare corneal dystrophy is unknown. Males are affected more severely than females. The condition is progressive in males and non-progressive in females. Has been mapped to the long arm of the X-chromosome (Xq25) but the causative gene has not been identified. Transmission is X-linked recessive. 900000000000017005 +3312833018 20170131 1 900000000000207008 717286002 en 900000000000550004 An extremely rare form of corneal dystrophy with manifestation of variable patterns of opacification in the Bowman layer of the cornea that extend anteriorly into the epithelium with decreased to normal visual acuity. Onset is in the first to second decade of life. Patients develop painful erosions that are less severe than those in Reis-Bucklers corneal dystrophy and Thiel-Behnke corneal dystrophy. Visual acuity is normal or sometimes slightly decreased. The condition has a progressive course. An autosomal dominant pattern of inheritance has been reported. 900000000000017005 +3312851017 20170131 1 900000000000207008 718586000 en 900000000000550004 Potential for trauma to skin or mucous membranes caused by heat or extreme temperatures during operative procedure. 900000000000017005 +3312885016 20170131 1 900000000000207008 718602007 en 900000000000550004 A very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date. The disease has manifestations of adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet. 900000000000017005 +3312889010 20170131 1 900000000000207008 718603002 en 900000000000550004 An extremely rare form of serine deficiency syndrome with clinical manifestations in the two reported cases to date of acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia. 900000000000017005 +3312893016 20170131 1 900000000000207008 718604008 en 900000000000550004 A very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course. Urinary obstruction, abdominal pain, urinary tract infection and weight loss are occasionally present. Histology and immunohistochemistry show a tumor that is indistinguishable from small cell lung cancer. 900000000000017005 +3312894010 20170131 1 900000000000207008 718604008 en 900000000000550004 A very rare, poorly differentiated neuroendocrine epithelial bladder tumour characterised clinically by haematuria and/or dysuria and a highly aggressive course. Urinary obstruction, abdominal pain, urinary tract infection and weight loss are occasionally present. Histology and immunohistochemistry show a tumour that is indistinguishable from small cell lung cancer. 900000000000017005 +3312899017 20170131 1 900000000000207008 718605009 en 900000000000550004 A novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients. It has clinical characteristics in the neonatal period of hypotonia, no palpable gonads, micropenis and from infancy progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. 900000000000017005 +3312900010 20170131 1 900000000000207008 718605009 en 900000000000550004 A novel very rare form of pontocerebellar hypoplasia with unknown aetiology and poor prognosis reported in four patients. It has clinical characteristics in the neonatal period of hypotonia, no palpable gonads, micropenis and from infancy progressive microcephaly, apnoeic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. 900000000000017005 +3312906016 20170131 1 900000000000207008 718611007 en 900000000000550004 A novel very rare form of PCH with clinical manifestations of progressive microcephaly, feeding difficulties and severe developmental delay. Although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures are demonstrated. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. 900000000000017005 +3312913016 20170131 1 900000000000207008 718606005 en 900000000000550004 A rare form of pontocerebellar hypoplasia with characteristics at birth of hypotonia, clonus, epilepsy, impaired swallowing and from infancy progressive microcephaly, spasticity and lactic acidosis. Reported in less than 10 cases to date. Caused by missense and splice site mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene located to 6q16.1. Prognosis is poor, exact life expectancy is unknown but in most cases does not exceed infancy. 900000000000017005 +3312919017 20170131 1 900000000000207008 718608006 en 900000000000550004 A very rare form of PCH with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Has been reported in 10 families to date. Caused by a compound heterozygosity for p.A307S plus non-sense or splice site mutations in the TSEN54 gene. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. Inherited in an autosomal recessive manner. 900000000000017005 +3312925018 20170131 1 900000000000207008 718609003 en 900000000000550004 A rare form of PCH with clinical manifestation neonatally of hypotonia and impaired swallowing and from infancy onward seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3. To date, PCH3 is reported in only 3 families. In 2 families, an implication of locus 7q11-21 has been demonstrated. PCH3 is inherited in an autosomal recessive manner. 900000000000017005 +3312931015 20170131 1 900000000000207008 718607001 en 900000000000550004 A very rare severe form of PCH with prenatal onset, with characteristics of fetal onset of clonus or seizures-like activity persisting into infancy and microcephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. PCH5 is reported in 3 siblings to date. PCH5 is caused by a compound heterozygosity for p.A307S plus splice site mutation in the gene. PCH5 transmission is autosomal recessive. 900000000000017005 +3312931015 20210731 0 900000000000207008 718607001 en 900000000000550004 A very rare severe form of PCH with prenatal onset, with characteristics of fetal onset of clonus or seizures-like activity persisting into infancy and microcephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. PCH5 is reported in 3 siblings to date. PCH5 is caused by a compound heterozygosity for p.A307S plus splice site mutation in the gene. PCH5 transmission is autosomal recessive. 900000000000017005 +3312947018 20170131 1 900000000000207008 718614004 en 900000000000550004 A rare multi-systemic disease with less than 10 cases described in literature. Manifests in mid-adulthood with the development of telangiectasia mostly on the face, trunk and arms, as well as with erythrocytosis that may cause a red facies and occasionally, headaches. The increased serum erythropoietin levels precede the intrapulmonary shunting. The intrapulmonary shunts cause hypoxia which slowly progresses until the person needs continuous supplemental oxygen. Blood clots, probably due to erythrocytosis, and bleeding in the brain have also been reported in some affected individuals. Monoclonal gammopathy and perinephric fluid collections are usually found incidentally and do not seem to cause any complications. The syndrome has a slow and regular progression. The cause of TEMPI syndrome is currently unknown. The abnormal plasma-cell clone and/or the monoclonal gammopathy are suggested to be triggers of the disease. 900000000000017005 +3312953018 20170131 1 900000000000207008 718615003 en 900000000000550004 Encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. The prevalence is unknown but 8q21.11 microdeletion syndrome is rare. Microdeletions appear de novo or are inherited from affected parents in an autosomal dominant manner. 900000000000017005 +3312988018 20170131 1 900000000000207008 718610008 en 900000000000550004 PCH1 often has prenatal characteristics of polyhydramnios with arthrogryposis multiplex congenita. Neonates with PCH1 present with hypotonia, impaired swallowing with consequent feeding difficulties and progressive microcephaly which mostly develops postnatally. Subsequently a severe psychomotor deficit becomes apparent. The clinical course is severe. About 40 patients with PCH1 have been reported. To date recessive mutations have been noted in the EXOSC3 gene and in single cases recessive mutations have been found in the tRNA splicing endonuclease homolog 54 (TSEN54), mitochondrial arginyl-transfer RNA synthetase (RARS2), and in the vaccinia-related kinase 1 (VRK1) gene. PCH1 has an autosomal recessive transmission. 900000000000017005 +3313008010 20170131 1 900000000000207008 718631006 en 900000000000550004 A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant. 900000000000017005 +3313012016 20170131 1 900000000000207008 718632004 en 900000000000550004 A minor variant of autosomal recessive congenital ichthyosis with manifestation of a collodion membrane at birth that heals within the first weeks of life. The exact prevalence is unknown. Approximately 25 cases have been reported in the literature. After the shedding of the membrane, patients present with mild scaling. Caused by mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive. 900000000000017005 +3313014015 20170131 1 900000000000207008 718633009 en 900000000000550004 A variant of self-healing collodion baby with manifestation of the presence at birth of a collodion membrane only at the extremities. Only 2 cases were described in the literature. In both cases, the babies healed soon after birth. In one case, molecular analysis was performed that revealed mutations in the TGM1 gene encoding transglutaminase 1, an enzyme involved in the cornification of the stratum corneum. 900000000000017005 +3313018017 20170131 1 900000000000207008 718634003 en 900000000000550004 A primary microangiopathy confined to the skin with characteristics of multiple and widespread telangiectasia. It is a rare disorder with less than 20 cases reported in the literature to date. Most patients present in adulthood with symmetrical telangiectasia appearing on the lower extremities and later progressing to the trunk and upper extremities. Thought to be associated with collagen abnormalities in the skin microvasculature. 900000000000017005 +3313022010 20160731 1 900000000000207008 716096005 en 900000000000550004 A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and with features of hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails 900000000000017005 +3313031010 20160731 1 900000000000207008 717221005 en 900000000000550004 Characterized by metaphyseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl. Transmission is autosomal dominant. 900000000000017005 +3313032015 20160731 1 900000000000207008 717221005 en 900000000000550004 Characterised by metaphyseal undermodelling with broadening of the long bones and femora with an 'Erlenmeyer flask' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl. Transmission is autosomal dominant. 900000000000017005 +3313038016 20160731 1 900000000000207008 715217004 en 900000000000550004 An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. 900000000000017005 +3313039012 20160731 1 900000000000207008 715217004 en 900000000000550004 An inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. 900000000000017005 +3313077018 20170131 1 900000000000207008 718649006 en 900000000000550004 The Draw-A-Man Test, developed by Goodenough in 1926 was the first formal figure drawing test. It was used to estimate a child's cognitive and intellectual abilities reflected in the drawing's quality. 900000000000017005 +3313084014 20170131 1 900000000000207008 445822005 en 900000000000550004 The Draw-A-Person test (DAP), developed by Machover in 1948, used figure drawings in a projective way, focusing on how the drawings reflected the anxieties, impulses, self-esteem, and personality of the test taker. The DAP is the most frequently used figure drawing test today. 900000000000017005 +3313156019 20170131 1 900000000000207008 718712005 en 900000000000550004 This syndrome has characteristics of muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity. 900000000000017005 +3313175012 20170131 1 900000000000207008 718679004 en 900000000000550004 A syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. 900000000000017005 +3313176013 20170131 1 900000000000207008 718679004 en 900000000000550004 A syndromic limb malformation characterised by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalisation of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. 900000000000017005 +3313181016 20170131 1 900000000000207008 718680001 en 900000000000550004 Syndrome with characteristics of highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid hallux, forked metatarsal, poly and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). Less than ten cases have been described in the literature. The causative gene has not yet been identified. 900000000000017005 +3313189019 20170131 1 900000000000207008 718681002 en 900000000000550004 An extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases and characteristics of facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. 900000000000017005 +3313219017 20170131 1 900000000000207008 718687003 en 900000000000550004 A chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 resulting in characteristics of facial dysmorphism, pre and postnatal growth retardation, cardiac and genital anomalies and developmental delay. Prevalence is unknown but around 40 cases have been described in the literature so far. Genital abnormalities have been mostly reported in males, psychomotor retardation (generally described as mild) was present in all reported cases. Distal monosomy 10q results from a subterminal 10q deletion with breakpoints in the 10q25 or 10q26 band leading to partial monosomy for the genes located in this area. Most of the reported cases involved de novo terminal deletions resulting from abnormal non-allelic homolog recombination during meiosis. 900000000000017005 +3313223013 20170131 1 900000000000207008 718688008 en 900000000000550004 Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Pure deletions have been described in less than 10 patients. Breakpoints are within 6p24-pter subtelomeric bands. 900000000000017005 +3313224019 20170131 1 900000000000207008 718688008 en 900000000000550004 Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognisable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Pure deletions have been described in less than 10 patients. Breakpoints are within 6p24-pter subtelomeric bands. 900000000000017005 +3313228016 20170131 1 900000000000207008 718689000 en 900000000000550004 Distal trisomy of the long arm of chromosome 10 results in characteristics of pre and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. To date, approximately 40 cases have been reported. Most cases are diagnosed in infancy or in childhood. The range and severity of symptoms and physical findings may vary from case to case, depending upon the exact length and location of the duplicated portion of chromosome 10q. The duplicated region almost always includes 10qter, with the most frequent proximal breakpoint at 10q24 (with variation from q22 to q25). Interstitial duplications of 10q have also been reported. 900000000000017005 +3313234011 20170131 1 900000000000207008 718691008 en 900000000000550004 A congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral cryptophthalmia have been described. Transmission is autosomal dominant. 900000000000017005 +3313306018 20170131 1 900000000000207008 718713000 en 900000000000550004 This syndrome has characteristics of hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a non-consanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. 900000000000017005 +3313309013 20170131 1 900000000000207008 718714006 en 900000000000550004 This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher, hypogonadism and abnormal behavior. It has been described in five related males. Inheritance appears to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness hypogonadism is a contiguous gene deletion syndrome. 900000000000017005 +3313310015 20170131 1 900000000000207008 718714006 en 900000000000550004 This syndrome is characterised by the association of congenital mixed hearing loss with perilymphatic gusher, hypogonadism and abnormal behaviour. It has been described in five related males. Inheritance appears to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness hypogonadism is a contiguous gene deletion syndrome. 900000000000017005 +3313313018 20170131 1 900000000000207008 718715007 en 900000000000550004 This syndrome has characteristics of the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. At least five cases have been described in the literature so far. Enlargement of the kidneys was also reported in some cases. Transmission is autosomal recessive. 900000000000017005 +3313318010 20170131 1 900000000000207008 718716008 en 900000000000550004 Mixed autoimmune hemolytic anemia (mixed AIHA) is a type of autoimmune hemolytic anemia defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. Diagnosis is based on clinical or laboratory evidence of hemolytic anemia and the detection of autoantibodies, usually both IgG and IgM, with the direct anti-globulin test (DAT) showing a pattern of IgG with complement C3, and the presence of cold agglutinins (IgM) in the serum at a significant titer. The disease responds to corticosteroids, and may be followed by remission, but usually runs a chronic course with intermittent exacerbations. 900000000000017005 +3313319019 20170131 1 900000000000207008 718716008 en 900000000000550004 Mixed autoimmune haemolytic anaemia (mixed AIHA) is a type of autoimmune haemolytic anaemia defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. Diagnosis is based on clinical or laboratory evidence of haemolytic anaemia and the detection of autoantibodies, usually both IgG and IgM, with the direct anti-globulin test (DAT) showing a pattern of IgG with complement C3, and the presence of cold agglutinins (IgM) in the serum at a significant titre. The disease responds to corticosteroids, and may be followed by remission, but usually runs a chronic course with intermittent exacerbations. 900000000000017005 +3313322017 20170131 1 900000000000207008 718717004 en 900000000000550004 This syndrome has characteristics of short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. To date, it has been described in four members of one family. Linkage analysis led to the identification of a homozygous deletion in the coding region of the ROBLD3 gene, resulting in reduced expression of the endosomal adaptor protein p14. 900000000000017005 +3313326019 20170131 1 900000000000207008 718718009 en 900000000000550004 Syndrome with characteristics of moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. 900000000000017005 +3313330016 20170131 1 900000000000207008 718719001 en 900000000000550004 This syndrome has characteristics of the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. 900000000000017005 +3313333019 20170131 1 900000000000207008 718720007 en 900000000000550004 This syndrome has characteristics of severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphism and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence. 900000000000017005 +3313337018 20170131 1 900000000000207008 718721006 en 900000000000550004 The absence or dramatic reduction of circulating human serum albumin (HSA) with less than 50 cases reported in the literature so far. In the majority of cases the disorder is diagnosed in adulthood. Although albumin is the most abundant plasma protein and has many functions, patients present with only a few mild clinical signs and biochemical abnormalities, HSA is either absent or present at very low levels (<1 g/L) but liver function is normal and there is an absence of conditions leading to significant protein loss. The disorder appears to be more severe in the fetus or during early infancy. Transmitted as an autosomal recessive trait and consanguinity has been shown in all reported cases, the disorder is caused by homozygous or compound heterozygous mutations in the gene coding for HSA (ALB; 4q13.3). 900000000000017005 +3313421013 20170131 1 900000000000207008 719574007 en 900000000000550004 A recently described syndrome with characteristics of severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. The phenotype includes other features: postnatal growth retardation and microcephaly, hypotonia, epilepsy, stereotypic movements and feeding problems. Dysmorphic features associate prominent metopic suture, bilateral epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears. This syndrome is caused by an interstitial deletion encompassing 14q12. They have a variable size and include FOXG1 as the gene responsible for the intellectual deficit and severe microcephaly. 900000000000017005 +3313507014 20170131 1 900000000000207008 720743003 en 900000000000550004 An oxygen delivery cannula with a reservoir pouch that hangs around the patient's neck. 900000000000017005 +3313723012 20170131 1 900000000000207008 718749004 en 900000000000550004 A form of peeling skin syndrome that presents with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) forms. 900000000000017005 +3313724018 20170131 1 900000000000207008 718749004 en 900000000000550004 A form of peeling skin syndrome that presents with a generalised distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) forms. 900000000000017005 +3313729011 20170131 1 900000000000207008 718750004 en 900000000000550004 An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. 900000000000017005 +3313732014 20170131 1 900000000000207008 718752007 en 900000000000550004 An exceedingly rare form of hereditary episodic ataxia with characteristics of ataxia with weakness, vertigo, and dysarthria without interictal findings. 900000000000017005 +3313734010 20170131 1 900000000000207008 718751000 en 900000000000550004 An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the single reported case to date, seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia. 900000000000017005 +3313740015 20170131 1 900000000000207008 718753002 en 900000000000550004 An exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia. 900000000000017005 +3313744012 20170131 1 900000000000207008 718754008 en 900000000000550004 A very rare form of hereditary episodic ataxia with characteristics of late-onset episodic ataxia, recurrent attacks of vertigo and diplopia. 900000000000017005 +3313748010 20170131 1 900000000000207008 718755009 en 900000000000550004 A very rare form of hereditary episodic ataxia with characteristics of vestibular ataxia, vertigo, tinnitus and interictal myokymia. 900000000000017005 +3313751015 20170131 1 900000000000207008 718756005 en 900000000000550004 An extremely rare form of hereditary episodic ataxia with characteristics of recurrent episodes of vertigo and ataxia lasting several hours. 900000000000017005 +3313762015 20170131 1 900000000000207008 718759003 en 900000000000550004 A congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. 900000000000017005 +3313770013 20170131 1 900000000000207008 718761007 en 900000000000550004 The association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. Less than 20 cases have been reported in the literature so far. The clinical picture is highly variable, even between affected members of the same family. Severe developmental delay was noted in some patients, whilst others showed normal cognitive development. Pituitary dysfunction, leading to growth hormone deficiency and short stature, or combined pituitary hormone deficiency, has also been reported. The syndrome is caused by heterozygous mutations in the OTX2 gene (14q22.3). 900000000000017005 +3313777011 20170131 1 900000000000207008 718763005 en 900000000000550004 Spondyloepiphyseal dysplasia MacDermot type has characteristics of short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. The syndrome has been described in a family in which females in four successive generations were affected. Myopia and retinal detachment were present in adult life. 900000000000017005 +3313780012 20170131 1 900000000000207008 718764004 en 900000000000550004 An extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and with characteristics of short stature, vertebral and femoral abnormalities, cervical instability and neurological manifestations secondary to anomalies of the odontoid process. 900000000000017005 +3313785019 20170131 1 900000000000207008 718765003 en 900000000000550004 An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet. 900000000000017005 +3313789013 20170131 1 900000000000207008 718766002 en 900000000000550004 Spondyloepiphyseal dysplasia Nishimura type has characteristics of spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. The syndrome has been described in four Japanese siblings born to nonconsanguineous parents. Most clinical manifestations are evident at birth, but skeletal changes and cataracts may become evident during early childhood. 900000000000017005 +3313797018 20170131 1 900000000000207008 718769009 en 900000000000550004 A very rare subtype of autosomal dominant cerebellar ataxia type 3 with characteristics of late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. To date, only 23 affected patients have been described from one American family of Norwegian descent. Disease onset occurs between the ages of 26-60. A candidate gene has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. Inherited autosomal dominantly. 900000000000017005 +3313800016 20170131 1 900000000000207008 718770005 en 900000000000550004 A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of cerebellar ataxia and prominent sensory neuropathy. Fewer than 10 cases in a 4-generation French family have been reported to date. Age of onset ranges from 1 to 39 years. The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy. Some patients exhibit gastrointestinal disorders such as vomiting and abdominal pain as initial symptoms. Scoliosis and urinary problems are also observed. Maps to chromosome 2p15-p21. 900000000000017005 +3313806010 20170131 1 900000000000207008 718772002 en 900000000000550004 A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. This subtype has only been described in 4 Dutch families. Age of onset is from 43 to 56 years. Maps to chromosome region 20p12.3-p13 and missense mutations in the prodynorphin PDYN gene appear to cause the disease. 900000000000017005 +3313807018 20170131 1 900000000000207008 718771009 en 900000000000550004 A very rare subtype of type I autosomal dominant cerebellar ataxia with cerebellar dysarthria as the initial typical manifestation. Prevalence is unknown. Fewer than 20 cases in a 4-generation Australian family of Anglo-Celtic descent have been reported to date. Age of symptomatic disease onset ranges from 19 to 64 years. Linked to chromosome 11q12.2-11q12.3. 900000000000017005 +3313813010 20170131 1 900000000000207008 718773007 en 900000000000550004 This syndrome has characteristics of the association of severe congenital colitis with sensorineural deafness. So far, two cases with neonatal onset have been described. Endoscopy reveals a smooth mucosa without ulcerations but histological studies reveal abnormal vacuolated epithelial cells with premature exfoliation within the glandular lumens, accompanied by increased mucus production and an increase in cholinergic fibres within the lamina propria. 900000000000017005 +3313816019 20170131 1 900000000000207008 718774001 en 900000000000550004 A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of slowly progressive cerebellar ataxia, mild cognitive impairment, postural and or resting tremor, bradykinesia, and rigidity. Prevalence is unknown. Fewer than 20 cases in a 4-generation French family have been reported to date. Maps to chromosome 7p21.3-p15.1 but the gene and gene mutation have not been identified. 900000000000017005 +3314060010 20170131 1 900000000000207008 718845002 en 900000000000550004 This syndrome has characteristics of ataxia, apraxia, intellectual deficit and or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. 900000000000017005 +3314104018 20170131 1 900000000000207008 718846001 en 900000000000550004 This syndrome is characterized by severe intellectual deficit with inability to walk and speak, muscle atrophy, and urinary and fecal incontinence. It has been described in six males of a Brazilian family. 900000000000017005 +3314105017 20170131 1 900000000000207008 718846001 en 900000000000550004 This syndrome is characterised by severe intellectual deficit with inability to walk and speak, muscle atrophy, and urinary and faecal incontinence. It has been described in six males of a Brazilian family. 900000000000017005 +3314122015 20170131 1 900000000000207008 718847005 en 900000000000550004 This syndrome is an X-linked neurodegenerative disorder with characteristics of intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12. 900000000000017005 +3314125018 20170131 1 900000000000207008 718848000 en 900000000000550004 A rare X-linked mental retardation syndrome with characteristics of psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. Prevalence is unknown, but the syndrome was originally described in a large Scottish family. Mutations in the AP1S2 gene (Xp22), coding for a subunit of the clathrin-associated adaptor protein complex involved in intracellular protein trafficking and synaptic vesicle recycling, have been identified in seven families. 900000000000017005 +3314128016 20170131 1 900000000000207008 718849008 en 900000000000550004 This syndrome is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter. 900000000000017005 +3314129012 20170131 1 900000000000207008 718849008 en 900000000000550004 This syndrome is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter. 900000000000017005 +3314133017 20170131 1 900000000000207008 718850008 en 900000000000550004 Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy with characteristics of limb-girdle weakness, particularly of the pelvic girdle muscles. 900000000000017005 +3314136013 20170131 1 900000000000207008 718851007 en 900000000000550004 This syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. This very rare syndrome has only been described in three families, one of which contained a few dozen affected individuals spanning eight generations. The disorder is transmitted as an autosomal dominant trait and is caused by dysfunction of the PITX3 gene (localised to 10q25). This gene codes for a transcription factor involved in the development of the lens and anterior segment of the eye. 900000000000017005 +3314137016 20170131 1 900000000000207008 718851007 en 900000000000550004 This syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. This very rare syndrome has only been described in three families, one of which contained a few dozen affected individuals spanning eight generations. The disorder is transmitted as an autosomal dominant trait and is caused by dysfunction of the PITX3 gene (localized to 10q25). This gene codes for a transcription factor involved in the development of the lens and anterior segment of the eye. 900000000000017005 +3314218015 20170131 1 900000000000207008 718876008 en 900000000000550004 The Modified Card Sorting Test (MCST), a shortened version of the Wisconsin Card Sorting Test, proposed by Nelson in 1976 is a neuropsychological test that evaluates executive functions in patients with focal, traumatic and degenerative brain diseases. 900000000000017005 +3314292015 20170131 1 900000000000207008 718880003 en 900000000000550004 An extremely rare mitochondrial disorder with characteristics of facial dysmorphism similar to that seen in Zellweger syndrome. These features include frontal bossing, high forehead, up slanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds and in addition, pale skin, profound hypotonia, developmental delay and minor metabolic anomalies. No peroxisomal defects have been reported. Transmission is thought to be autosomal recessive. 900000000000017005 +3314295018 20170131 1 900000000000207008 718881004 en 900000000000550004 A recently described syndrome with characteristics of short stature, hypogonadism, developmental delay and facial dysmorphism. Facial features include deep-set eyes, bulbous nasal tip and thin lips. Hypogonadism is due to primary gonadal failure. Patients also had some features that are probably caused by testosterone deficiency such as a high-pitched voice, sparse body hair and small hands and feet. Carrier females present with a short stature and early menopause. This syndrome is caused by an Xq27.3q28 interstitial duplication encompassing the FMR1 and AFF2 genes but not the MECP2 gene. Transmission is X-linked. 900000000000017005 +3314318018 20170131 1 900000000000207008 718882006 en 900000000000550004 This syndrome is an immunodeficiency syndrome with characteristics of recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. 900000000000017005 +3314341014 20170131 1 900000000000207008 718896000 en 900000000000550004 This syndrome combining intellectual deficit, ciliary dysfunction and macrocephalus has been described in several males from one large family. Ciliary dysfunction leads to recurrent pulmonary infections and death in most cases. This syndrome is a recessive X-liked mental retardation and has been associated with mutations in the OFD1 gene, known to be involved in oral-facial-digital syndrome. 900000000000017005 +3314341014 20200131 0 900000000000207008 718896000 en 900000000000550004 This syndrome combining intellectual deficit, ciliary dysfunction and macrocephalus has been described in several males from one large family. Ciliary dysfunction leads to recurrent pulmonary infections and death in most cases. This syndrome is a recessive X-liked mental retardation and has been associated with mutations in the OFD1 gene, known to be involved in oral-facial-digital syndrome. 900000000000017005 +3314344018 20170131 1 900000000000207008 718897009 en 900000000000550004 This syndrome has characteristics of microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. 900000000000017005 +3314354019 20170131 1 900000000000207008 718900002 en 900000000000550004 This syndrome has manifestations of moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome. 900000000000017005 +3314355018 20170131 1 900000000000207008 718900002 en 900000000000550004 This syndrome has manifestations of moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome. 900000000000017005 +3314370017 20170131 1 900000000000207008 718905007 en 900000000000550004 This syndrome is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome. 900000000000017005 +3314371018 20170131 1 900000000000207008 718905007 en 900000000000550004 This syndrome is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome. 900000000000017005 +3314378012 20170131 1 900000000000207008 718908009 en 900000000000550004 This syndrome is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome. 900000000000017005 +3314379016 20170131 1 900000000000207008 718908009 en 900000000000550004 This syndrome is characterized by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localized to the p11.21 region of the X chromosome. 900000000000017005 +3314382014 20170131 1 900000000000207008 718909001 en 900000000000550004 This syndrome has characteristics of intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. 900000000000017005 +3314385011 20170131 1 900000000000207008 718910006 en 900000000000550004 This syndrome is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region. 900000000000017005 +3314386012 20170131 1 900000000000207008 718910006 en 900000000000550004 This syndrome is characterized by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behavior and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localized to the Xp11.2 region. 900000000000017005 +3314395016 20170131 1 900000000000207008 718911005 en 900000000000550004 This syndrome has manifestations of intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked. 900000000000017005 +3314398019 20170131 1 900000000000207008 718912003 en 900000000000550004 X-linked mental retardation, Turner type has characteristics of moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant. 900000000000017005 +3314398019 20210731 0 900000000000207008 718912003 en 900000000000550004 X-linked mental retardation, Turner type has characteristics of moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant. 900000000000017005 +3314404012 20170131 1 900000000000207008 718914002 en 900000000000550004 X-linked intellectual deficit Van Esch type has characteristics of mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. It has been described in seven males from a family of Belgian origin. The syndrome is transmitted in an X-linked recessive manner and mapped to the Xp22.1-p21.3 region of the X-chromosome. 900000000000017005 +3314615010 20170131 1 900000000000207008 719021005 en 900000000000550004 A very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities and thrombocytopenia. Less than 15 cases have been reported. The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal. Pathogenesis and cause of this syndrome are unknown. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance. 900000000000017005 +3314657016 20170131 1 900000000000207008 719009006 en 900000000000550004 This syndrome has characteristics of severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been located to the 11p region of the X chromosome. 900000000000017005 +3314660011 20170131 1 900000000000207008 719010001 en 900000000000550004 X-linked mental retardation Schimke type has characteristics of intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked. 900000000000017005 +3314663013 20170131 1 900000000000207008 719011002 en 900000000000550004 This syndrome has characteristics of the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been located to the q28 region of the X chromosome. 900000000000017005 +3314666017 20170131 1 900000000000207008 719012009 en 900000000000550004 X-linked mental retardation Miles-Carpenter type has characteristics of severe intellectual deficit, microcephaly, exotropia and low digital arches. It has been described in four male members of one family. Joint hypermobility, distal muscle wasting, hypogonadism and rocker bottom feet were also reported. Low digital arches and exotropia were described in several female members of the family. Transmission is X-linked and the causative gene has been mapped to Xq13-q22. 900000000000017005 +3314671012 20170131 1 900000000000207008 719013004 en 900000000000550004 X-linked intellectual deficit Cilliers type has characteristics of mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). It has been described in four males from one family. The syndrome is mapped to the Xq25-q26 region of the X-chromosome. The syndrome is transmitted in an X-linked recessive manner. 900000000000017005 +3314679014 20170131 1 900000000000207008 719016007 en 900000000000550004 Characterized by marked neonatal hypotonia, progressive quadriparesis, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, and stereotypic movements of the hands, esotropia and infantile autism. It has been described in two related males, whereas female carriers were unaffected. Pericentric inversion inv(X)(q13;p22) has been identified it results in the absence of the product of the KIAA2022 gene, highly expressed in the brain. 900000000000017005 +3314680012 20170131 1 900000000000207008 719016007 en 900000000000550004 Characterised by marked neonatal hypotonia, progressive quadriparesis, severely delayed developmental milestones (walking at 3 years of age), gastrooesophageal reflux, and stereotypic movements of the hands, esotropia and infantile autism. It has been described in two related males, whereas female carriers were unaffected. Pericentric inversion inv(X)(q13;p22) has been identified it results in the absence of the product of the KIAA2022 gene, highly expressed in the brain. 900000000000017005 +3314683014 20170131 1 900000000000207008 719017003 en 900000000000550004 This syndrome has characteristics of intellectual deficiency, short stature, seizures and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts and or glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. 900000000000017005 +3314687010 20170131 1 900000000000207008 719018008 en 900000000000550004 This syndrome has characteristics of X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations. 900000000000017005 +3314690016 20170131 1 900000000000207008 719019000 en 900000000000550004 Syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant. 900000000000017005 +3314691017 20170131 1 900000000000207008 719019000 en 900000000000550004 Syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant. 900000000000017005 +3314695014 20170131 1 900000000000207008 719020006 en 900000000000550004 W syndrome has characteristics of intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant. 900000000000017005 +3314695014 20210930 0 900000000000207008 719020006 en 900000000000550004 W syndrome has characteristics of intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant. 900000000000017005 +3314769016 20170131 1 900000000000207008 719041000 en 900000000000550004 Upington disease has characteristics of Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant. 900000000000017005 +3314772011 20170131 1 900000000000207008 719042007 en 900000000000550004 This syndrome is characterised by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. 900000000000017005 +3314773018 20170131 1 900000000000207008 719042007 en 900000000000550004 This syndrome is characterized by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and hematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. 900000000000017005 +3314779019 20170131 1 900000000000207008 719043002 en 900000000000550004 VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. 900000000000017005 +3314779019 20200131 0 900000000000207008 719043002 en 900000000000550004 VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. 900000000000017005 +3314783019 20170131 1 900000000000207008 719044008 en 900000000000550004 Partial agenesis of the pancreas is an absence of a critical mass of pancreatic tissue. It is a rare disorder with only around 50 cases being reported in the literature so far. The severity of the disease depends on the amount of functional pancreatic tissue present. Pancreatic agenesis is commonly associated with other malformations, in particular pancreaticobiliary duct anomalies or more rarely, polysplenia. In the majority of cases, patients are diagnosed after reporting abdominal pain. Agenesis of the dorsal pancreas usually manifests as diabetes. Pancreatic agenesis has been associated with mutations in the PDX1 gene (13q12.1), which encodes the insulin promoter factor-1 (IPF-1) transcription factor. 900000000000017005 +3314789015 20170131 1 900000000000207008 719045009 en 900000000000550004 Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. 900000000000017005 +3314790012 20170131 1 900000000000207008 719045009 en 900000000000550004 Orbital leiomyoma is a rare benign smooth muscle tumour arising from the walls of orbital vessels characterised by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumour is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumour cells are oval with blunted ends and there are no mitotic figures. 900000000000017005 +3314801011 20170131 1 900000000000207008 719046005 en 900000000000550004 This syndrome has characteristics of mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. 900000000000017005 +3314805019 20170131 1 900000000000207008 719047001 en 900000000000550004 A recently described syndrome with characteristics of developmental delay, hypotonia and facial dysmorphism. It has been clinically and molecularly described in 3 patients. All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow, full lower lip and similar auricular anomalies. This syndrome is caused by an interstitial deletion encompassing 14q11.2. 900000000000017005 +3314808017 20170131 1 900000000000207008 719048006 en 900000000000550004 Extreme sensitivity to tickling. 900000000000017005 +3314861013 20170131 1 900000000000207008 719069008 en 900000000000550004 An extremely rare disorder with less than 50 cases reported to date worldwide. The disorder usually has characteristics of marfanoid habitus, craniofacial abnormalities (craniosynostosis, characteristic dysmorphic facial features), skeletal and cardiovascular abnormalities and learning disabilities. Its occurrence is sporadic and mutations in the fibrillin-1 gene have been described in some of these patients. 900000000000017005 +3314971014 20170131 1 900000000000207008 719096006 en 900000000000550004 Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome with characteristics of severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness. 900000000000017005 +3314974018 20170131 1 900000000000207008 719948009 en 900000000000550004 This syndrome has characteristics of trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges. It has been described in a brother and his sister born to consanguineous parents. 900000000000017005 +3314980014 20170131 1 900000000000207008 719098007 en 900000000000550004 A rare disorder with characteristics of congenital hypothyroidism, infant respiratory distress syndrome and benign hereditary chorea. Prevalence is unknown but to date about 50 cases have been reported in the literature.The clinical spectrum varies from the complete triad of brain-lung-thyroid syndrome (50%), to brain and thyroid disease (30%), or isolated benign hereditary chorea (13%), which is the mildest expression of the syndrome. In addition, the severity of symptoms varies widely, even in families with the same disease-causing mutation. Brain-lung-thyroid syndrome is caused by mutations in the thyroid transcription factor 1 gene (NKX2-1/TITF1; 14q13.3). 900000000000017005 +3314989010 20170131 1 900000000000207008 719101006 en 900000000000550004 An X-linked mental retardation syndrome belonging to the group of conditions with manifestations of intellectual deficit with hypotonic facies. Prevalence is unknown but the syndrome was originally described in 1988 in six males from three generations of one family. In the affected males the syndrome has characteristics of coarse facial appearance (prominent lips, bushy eyebrows, widely-spaced teeth, and a broad and depressed nasal bridge with a wide nasal tip), brachydactyly with widening of the distal phalanges, short stature and moderate intellectual deficit. The syndrome is caused by mutations in the ATRX gene (Xq13.3).The syndrome is transmitted as an X-linked recessive trait with skewed X-inactivation in carrier females. 900000000000017005 +3314992014 20170131 1 900000000000207008 719102004 en 900000000000550004 This syndrome has characteristics of mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive. 900000000000017005 +3314996012 20170131 1 900000000000207008 719103009 en 900000000000550004 This syndrome has characteristics of progressive spastic paraplegia and distal muscle wasting. So far, it has been described in two families. All affected individuals carried mutations in the neuropathy target esterase (NTE) gene, encoding a neural membrane protein. 900000000000017005 +3315001018 20170131 1 900000000000207008 719104003 en 900000000000550004 A rare genetic skin disorder with characteristics of congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. To date the syndrome has been reported in two families (seven affected individuals) plus an additional sporadic patient was likely affected by the same condition. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Skin thickening of palms and soles develops during infancy and may have an unusual pattern affecting the two sides of fingers and palms, but usually sparing the palmar surfaces. 900000000000017005 +3315135018 20170131 1 900000000000207008 719136005 en 900000000000550004 A rare syndromic form of cerebellar dysgenesis with characteristics of moderate to severe intellectual deficit and cerebellar abnormalities. OPHN1 syndrome is very rare. To date, up to 12 families have been reported. Affected male patients present moderate to severe intellectual disability, hypotonia, severe developmental delay, early-onset complex partial or tonic-clonic seizures, strabismus, dysmetria and occasionally ataxia. Cryptorchidism and genital hypoplasia have been reported. Various mutations including deletions and splice site mutations in the OPHN1 gene (Xq12) have been reported in patients with this syndrome. Transmission appears to follow an X-linked semi-dominant pattern. 900000000000017005 +3315138016 20170131 1 900000000000207008 719137001 en 900000000000550004 This syndrome has characteristics of intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive. 900000000000017005 +3315141013 20170131 1 900000000000207008 719138006 en 900000000000550004 This syndrome has characteristics of moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. 900000000000017005 +3315145016 20170131 1 900000000000207008 719139003 en 900000000000550004 A central nervous system malformation with characteristics of severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead) and brain imaging abnormalities. 900000000000017005 +3315149010 20170131 1 900000000000207008 719140001 en 900000000000550004 This syndrome has characteristics of intellectual deficit associated with facial dysmorphism, patella luxation and abnormal growth of the teeth. It has been described in eight males from multiple generations of one family. The locus for the causative gene for this syndrome has been located to the region between p11.22 and p21.1 on the X chromosome. 900000000000017005 +3315186011 20170131 1 900000000000207008 719157002 en 900000000000550004 This syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22. 900000000000017005 +3315187019 20170131 1 900000000000207008 719157002 en 900000000000550004 This syndrome is characterized by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behavior. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22. 900000000000017005 +3315188012 20170131 1 900000000000207008 719155005 en 900000000000550004 This syndrome has characteristics of intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. 900000000000017005 +3315192017 20170131 1 900000000000207008 719156006 en 900000000000550004 This syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration.This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. 900000000000017005 +3315193010 20170131 1 900000000000207008 719156006 en 900000000000550004 This syndrome is characterised by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinaemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration.This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. 900000000000017005 +3315202016 20170131 1 900000000000207008 719158007 en 900000000000550004 A very rare congenital distal limb malformation with characteristics of complete bilateral syndactyly involving all digits 1 to 5. So far, only four reports have been described in the literature. A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. The SD4 locus maps to 7q36. The condition is inherited as an autosomal dominant trait. 900000000000017005 +3315206018 20170131 1 900000000000207008 719159004 en 900000000000550004 A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait. 900000000000017005 +3315209013 20170131 1 900000000000207008 719160009 en 900000000000550004 This syndrome has characteristics of X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. It has been described in ten males from a large Pakistani family. The causative gene has been located to Xp11.3-Xq23. 900000000000017005 +3315214012 20170131 1 900000000000207008 719161008 en 900000000000550004 This syndrome is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity. 900000000000017005 +3315215013 20170131 1 900000000000207008 719161008 en 900000000000550004 This syndrome is characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity. 900000000000017005 +3315220013 20170131 1 900000000000207008 719162001 en 900000000000550004 An extremely rare syndrome with characteristics of the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. 900000000000017005 +3315225015 20170131 1 900000000000207008 719163006 en 900000000000550004 An extremely rare congenital malformation with the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of the face. 900000000000017005 +3315228018 20170131 1 900000000000207008 719164000 en 900000000000550004 Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding and facial diplegia or weakness. It is an extremely rare condition, with about 30 cases described in the literature. The calcifications are revealed by computed tomography scanning. The prognosis is very poor. 900000000000017005 +3315231017 20170131 1 900000000000207008 719165004 en 900000000000550004 A new form of skeletal dysplasia with manifestations of severe short stature, facial dysmorphism and characteristic radiographic findings. To date, three cases have been described, all originating from the same family. The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal recessive. 900000000000017005 +3315234013 20170131 1 900000000000207008 719166003 en 900000000000550004 Disease that has characteristics of disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. The syndrome has been described in a large consanguineous Arab Muslim family. It is caused by mutation in the matrilin-3 gene (MATN3, 2p24-p23) and transmitted in an autosomal recessive manner. 900000000000017005 +3315252013 20170131 1 900000000000207008 719171005 en 900000000000550004 Disorder with manifestations of moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations. Though some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected siblings. Predisposition deformities to osteoarthritis have been noted. This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner. 900000000000017005 +3315258012 20170131 1 900000000000207008 719172003 en 900000000000550004 Disorder with characteristics of short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. The syndrome has been described a large eight-generation consanguineous Pakistani family. Caused by mutations in the PAPSS2 gene (10q22-q24). Inherited in an autosomal recessive manner. 900000000000017005 +3315350019 20170131 1 900000000000207008 719194006 en 900000000000550004 Hair that can be removed without resistance. 900000000000017005 +3315401014 20170131 1 900000000000207008 719201004 en 900000000000550004 Disease with characteristics of severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy. The long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. 900000000000017005 +3315404018 20170131 1 900000000000207008 719202006 en 900000000000550004 Disease with characteristics of short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.The syndrome has been described in three daughters born to healthy consanguineous parents. The skeletal disorder usually manifests in late childhood. Typical radiographic features include platyspondyly, abnormal lumbar vertebrae and degenerative large joint changes. Autosomal recessive transmission has been suggested. 900000000000017005 +3315407013 20170131 1 900000000000207008 719203001 en 900000000000550004 Disease with characteristics of short stature and premature degenerative arthropathy. It has been described in one multigenerational South African family of English white descent. The main clinical features may include proportionate short stature (less than fifth percentile for age), stocky habitus and early-onset progressive osteoarthropathy of the weight-bearing joints. Radiographic features are flattened vertebral bodies with sclerosis and prominent endplate irregularity and flattened femoral epiphyses. Caused by mutation in the aggrecan gene (AGC1, locus 15q26.1) and transmitted as an autosomal dominant trait. 900000000000017005 +3315410018 20170131 1 900000000000207008 719204007 en 900000000000550004 A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date with clinical characteristics of dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. 900000000000017005 +3315414010 20170131 1 900000000000207008 719205008 en 900000000000550004 This syndrome has manifestations of the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. 900000000000017005 +3315419017 20170131 1 900000000000207008 719207000 en 900000000000550004 Disease with characteristics of early-onset cerebellar signs, eye movement abnormalities and pyramidal signs. Fifty-one clinically affected members from four families (of British, Pakistani, German and French descent) have been reported to date. The disease presents with the cerebellar signs such as dysarthria and progressive ataxia, eventually leading to difficulty walking and loss of balance as well as eye movement abnormalities (jerky pursuit, horizontal and vertical nystagmus and ophthalmoplegia). Caused by mutations in the tau tubulin kinase 2 TTBK2 gene (15q15.2). Inherited in autosomal dominant pattern. 900000000000017005 +3315422015 20170131 1 900000000000207008 719208005 en 900000000000550004 Rare disease with manifestations of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. Prevalence is unknown. Approximately 40 families have been reported. The pathogenesis seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5' end of the PPP2R2B gene on chromosome 5q31-5q32. 900000000000017005 +3315425018 20170131 1 900000000000207008 719209002 en 900000000000550004 A very rare disease with onset in childhood of marked delayed motor and cognitive development followed by mild progression of cerebellar ataxia. Prevalence is unknown. Fewer than 20 cases have been reported to date. Although primarily a cerebellar syndrome, dysphagia, urinary urgency and bradykinesia have been described in affected patients older than 50. Mapped to chromosome 19q13.3-q13.4 and is known to be associated with two missense mutations in the KCNC3 gene. 900000000000017005 +3315428016 20170131 1 900000000000207008 719210007 en 900000000000550004 A rare disease with manifestations of slowly progressive ataxia, dysarthria and nystagmus. The disease has been reported in more than twenty families from Europe, the United States, and Australia. Onset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years. In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma). 900000000000017005 +3315431015 20170131 1 900000000000207008 719211006 en 900000000000550004 This syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. 900000000000017005 +3315434011 20170131 1 900000000000207008 719212004 en 900000000000550004 An X-linked mental retardation syndrome characterized by facial dysmorphism (slanted palpebral fissures, narrow face, micrognathia, patulous lower lip, flat or small philtrum, and alternating exotropia and ptosis), short stature, early hypotonia and later hypertonia, prominent upper central incisors, foot deformities (pes planus, metatarsus varus, equinovarus), psychomotor retardation and behavioral problems. Prevalence is unknown. Since its initial description in 1980, the disorder has been described in males from 11 families and in one isolated case. In most cases the syndrome is caused by mutations in the ATRX gene (Xq13.3), however, the causative gene in a large Chinese family has been mapped to a 19.8 Mb interval on Xq25. Transmission is X-linked recessive. 900000000000017005 +3315435012 20170131 1 900000000000207008 719212004 en 900000000000550004 An X-linked mental retardation syndrome characterised by facial dysmorphism (slanted palpebral fissures, narrow face, micrognathia, patulous lower lip, flat or small philtrum, and alternating exotropia and ptosis), short stature, early hypotonia and later hypertonia, prominent upper central incisors, foot deformities (pes planus, metatarsus varus, equinovarus), psychomotor retardation and behavioural problems. Prevalence is unknown. Since its initial description in 1980, the disorder has been described in males from 11 families and in one isolated case. In most cases the syndrome is caused by mutations in the ATRX gene (Xq13.3), however, the causative gene in a large Chinese family has been mapped to a 19.8 Mb interval on Xq25. Transmission is X-linked recessive. 900000000000017005 +3315439018 20170131 1 900000000000207008 719213009 en 900000000000550004 This syndrome has characteristics of short stature presenting in the neonatal period, associated with osteochondrodysplastic lesions and facial dysmorphism. It has been described in two members from the same family. 900000000000017005 +3315595013 20170131 1 900000000000207008 719231005 en 900000000000550004 West Coast Informatics 900000000000017005 +3315595013 20170731 0 900000000000207008 719231005 en 900000000000550004 West Coast Informatics 900000000000017005 +3315682014 20170131 1 900000000000207008 719249005 en 900000000000550004 Disease with characteristics of a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity and epilepsy. Worldwide prevalence is unknown. Fewer than 100 families have been reported to date. Clinical features overlap with many neurodegenerative syndromes and specifically Huntington disease. Caused by a CAG repeat expansion in the TATA box-binding protein gene TBP (6q27). Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age. 900000000000017005 +3315685011 20170131 1 900000000000207008 719250005 en 900000000000550004 Disease with characteristics of sensory neuropathy and cerebellar ataxia. Prevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have been reported to date. Onset is in the second and third decades of life with symptomatic onset ranging from 13 to 27 years. Patients initially present with axonal sensory neuropathy, while cerebellar ataxia and motor neuron dysfunction develop later. Linked to chromosome 7q22-q23 but the responsible gene mutation has not yet been identified. 900000000000017005 +3315688013 20170131 1 900000000000207008 719251009 en 900000000000550004 Disease with characteristics of mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. Prevalence is unknown. Only 12 cases in a 5-generation Dutch family have been reported to date. SCA19 presents in the third decade of life with symptomatic disease onset ranging from 10 to 46 years. Onset symptoms of SCA22 overlap significantly with those of SCA19 but with a more narrow age range of 35 to 46 years. Linkage to locus 1p21-q21 has been proposed but the gene mutation has not been identified. 900000000000017005 +3315691013 20170131 1 900000000000207008 719252002 en 900000000000550004 Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis is relatively good. Life-threatening status epilepticus and intractable seizure or severe dysphagia is rare. 900000000000017005 +3315694017 20170131 1 900000000000207008 719253007 en 900000000000550004 A rare disease with characteristics of slowly progressive and relatively pure ataxia described in 6 patients from one Australian family to date. The disease presents with oculomotor dysfunction, moderate dysarthria, and ataxia that progresses slowly and eventually leads to mobility impairment. Some patients have also reported mild hyperreflexia in the lower limbs. Rare manifestations include gaze-evoked nystagmus and dystonia. The causal gene has not yet been identified but it has been linked to chromosome 4q34.3-q35.1. 900000000000017005 +3315697012 20170131 1 900000000000207008 719254001 en 900000000000550004 Disease with characteristics of ataxia, cognitive impairment and azoospermia in males. Reported in one Chinese family to date. Disease onset occurs in adulthood with females more affected than males. Manifestations include cerebellar ataxia, cognitive impairment and in males, azoospermia. Cerebellar atrophy is visible with magnetic resonance imaging. The causal gene has not yet been identified but it is located to chromosome 7q32-q33. 900000000000017005 +3315702015 20170131 1 900000000000207008 719255000 en 900000000000550004 Disease with characteristics of papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Reported in 25 members of one French-Canadian family to date. Due to a mutation in the ELOVL4 gene (6q14). 900000000000017005 +3315710019 20170131 1 900000000000207008 719256004 en 900000000000550004 This syndrome has characteristics of pterygium colli, digital anomalies and craniofacial abnormalities. Digital anomalies include abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges. Craniofacial abnormalities include brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, prominent low-set and posteriorly rotated ears. It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant. 900000000000017005 +3315714011 20170131 1 900000000000207008 719257008 en 900000000000550004 An extremely rare inborn error of sterol biosynthesis with manifestations of facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Only 4 cases have been reported in the literature to date. Lathosterolosis is due to mutations in the SC5D gene (11q23.3). A mutation in this gene leads to a deficiency in 3-beta-hydroxysteroid-delta-5-desaturase, which is necessary in the conversion of lathosterol into 7-dehydrocholesterol. This prevents the synthesis of cholesterol, which among other functions acts as a structural lipid, a precursor for bile acids and steroid hormones, and is necessary for the maturation of hedgehog morphogens during embryonic development. Inherited in an autosomal recessive manner. 900000000000017005 +3315731016 20170131 1 900000000000207008 719258003 en 900000000000550004 Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Pyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognized at birth. The main clinical manifestations include a large head, palpebral edema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism. Etiology remains unknown. Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period. 900000000000017005 +3315732011 20170131 1 900000000000207008 719258003 en 900000000000550004 Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterised by severe generalised osteosclerosis. The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Pyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognised at birth. The main clinical manifestations include a large head, palpebral oedema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism. Aetiology remains unknown. Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period. 900000000000017005 +3315761012 20170131 1 900000000000207008 719266007 en 900000000000550004 An early-onset chorioretinal dystrophy with characteristics of large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision and slow disease progression. It has been described in two large families. Transmission is autosomal dominant and the causative gene has been mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus. 900000000000017005 +3315764016 20170131 1 900000000000207008 719267003 en 900000000000550004 Progressive cavitating leukoencephalopathy has characteristics of acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. So far around 20 patients have been reported in the literature. Onset occurs in infancy or early childhood. The mode of transmission is autosomal recessive. 900000000000017005 +3315769014 20170131 1 900000000000207008 719268008 en 900000000000550004 Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder with characteristics of the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features. Prevalence is unknown, but PAVF (mostly isolated cases) has been reported in approximately 80-100 cases. Neurological abnormalities are exceptional. PAVF can occur isolated or less frequently, as part of a syndrome. Syndrome associated manifestations include facial dysmorphism, absence of one cervical vertebrae, radio-ulnar synostosis, exostosis. 900000000000017005 +3315788019 20170131 1 900000000000207008 719271000 en 900000000000550004 Progressive osseous heteroplasia (POH) is a rare genetic bone disorder with clinical characteristics of progressive extraskeletal bone formation presenting in early life with cutaneous ossification that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation. 900000000000017005 +3315792014 20170131 1 900000000000207008 719272007 en 900000000000550004 An extremely rare disorder described in one family to date that has characteristics of progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation and mild cardiac hypertrophy. 900000000000017005 +3315797015 20170131 1 900000000000207008 719274008 en 900000000000550004 Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone independent Cushing syndrome. The disease has characteristics of small to normal sized adrenal glands containing multiple small cortical pigmented nodules. A substantial proportion of patients present during early childhood (2-3 years). More than 90% of reported cases of PPNAD occur as one of the manifestations of Carney complex. The condition is inherited in an autosomal dominant manner and can be associated with mutations in the PRKAR1A, PDE11A and PDE8B genes. 900000000000017005 +3315801019 20170131 1 900000000000207008 719275009 en 900000000000550004 This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia. So far, it has been described in seven patients from three families. Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia and primary amenorrhea were described in the females. The male appeared to have germinal cell aplasia. All patients displayed partial scalp alopecia, and axillary and pubic hair was sparse or absent in the females but normal in the male patient. Additional findings in some of the female patients included sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis and mild intellectual deficit. Transmission was autosomal recessive. 900000000000017005 +3315802014 20170131 1 900000000000207008 719275009 en 900000000000550004 This syndrome is characterised by primary hypergonadotropic hypogonadism and partial alopecia. So far, it has been described in seven patients from three families. Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia and primary amenorrhoea were described in the females. The male appeared to have germinal cell aplasia. All patients displayed partial scalp alopecia, and axillary and pubic hair was sparse or absent in the females but normal in the male patient. Additional findings in some of the female patients included sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis and mild intellectual deficit. Transmission was autosomal recessive. 900000000000017005 +3315807015 20170131 1 900000000000207008 719276005 en 900000000000550004 DYT4 type primary dystonia has characteristics of predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). So far, the disease has been reported in one large Australian family. The age of onset varies from 13 to 37 years. The locus for DYT4 remains unknown. The disease is transmitted in an autosomal dominant manner. 900000000000017005 +3315815017 20170131 1 900000000000207008 719278006 en 900000000000550004 DYT13 type primary dystonia has characteristics of focal or segmental dystonia with cranial, cervical, or upper limb involvement. It has been reported in individuals from three generations of one large Italian family. Age of onset varied between 5 years and adulthood. The clinical manifestations were generally mild and slowly progressive. The causative gene locus has been identified on chromosome 1p36.13-1p36.32. Transmitted in an autosomal dominant manner. 900000000000017005 +3315829016 20170131 1 900000000000207008 719282008 en 900000000000550004 An X-linked ciliary dysfunction disorder of both the respiratory epithelium and photoreceptors of the retina. This leads to ocular problems including mild night blindness, constriction of the visual field and scotopic and photopic ERG responses reduced to 30-60%. It is also associated with primary ciliary dyskinesia manifestations including chronic bronchorrhea with bronchoectasis and chronic sinusitis along with sensorineural hearing loss. 900000000000017005 +3315830014 20170131 1 900000000000207008 719282008 en 900000000000550004 An X-linked ciliary dysfunction disorder of both the respiratory epithelium and photoreceptors of the retina. This leads to ocular problems including mild night blindness, constriction of the visual field and scotopic and photopic ERG responses reduced to 30-60%. It is also associated with primary ciliary dyskinesia manifestations including chronic bronchorrhoea with bronchoectasis and chronic sinusitis along with sensorineural hearing loss. 900000000000017005 +3315894019 20170131 1 900000000000207008 719296002 en 900000000000550004 A very rare form of stromal corneal dystrophy with characteristics of irregular amorphous sheet-like opacities in the posterior corneal stroma and in the Descemet membrane along with mildly impaired vision. Prevalence of this form of corneal dystrophy is not known. To date cases have been reported primarily in the USA. Patients usually develop corneal abnormalities in infancy or childhood. The condition is non-progressive or slowly progressive. Unlike other corneal dystrophies, non-corneal manifestations have been observed and include abnormalities of the iris including iridocorneal adhesions, corectopia, and pseudopolycoria. An autosomal dominant pattern of inheritance has been reported. 900000000000017005 +3315897014 20170131 1 900000000000207008 719297006 en 900000000000550004 This syndrome is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far had good visual acuity until the onset of choroidal neovascularization or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision. 900000000000017005 +3315898016 20170131 1 900000000000207008 719297006 en 900000000000550004 This syndrome is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far had good visual acuity until the onset of choroidal neovascularisation or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision. 900000000000017005 +3315903017 20170131 1 900000000000207008 719298001 en 900000000000550004 A rare focal skeletal dysostosis with characteristics of symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Approximately 10 patients have been reported so far. Additional skeletal abnormalities may include hypoplasia of the clavicles, ribs, femora and fibula, together with spina bifida and prominent lumbar lordosis. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Intelligence is described as normal. Pelvis-shoulder dysplasia seems to be a genetically heterogeneous disorder but no causative genes have been identified so far. 900000000000017005 +3315908014 20170131 1 900000000000207008 719299009 en 900000000000550004 Syndrome with characteristics of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. The facial dysmorphism has manifestations of frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline. Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synostosis, dislocation of the femoral heads, and moderate brachydactyly. Mutations in the TBX15 gene have been identified as potentially causative. Pelviscapular dysplasia is phenotypically similar to pelvis-shoulder dysplasia. 900000000000017005 +3315912015 20170131 1 900000000000207008 719300001 en 900000000000550004 Disease with characteristics of adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis. Reported in less than 20 cases from 3 Chinese families to date. No cognitive impairment is noted. Patients are usually wheelchair bound 10 years after the onset of symptoms. Caused by a mutation in the TGM6 gene (20p13) encoding transglutaminase 6 (TG6), a member of the transglutaminase family of enzymes. TG6 is expressed in the kidney, skin, eyes and neurons but the exact process that leads to this disease is unknown. Inherited autosomal dominantly. 900000000000017005 +3315916017 20170131 1 900000000000207008 719301002 en 900000000000550004 Disease with characteristics of cerebellar syndrome along with altered vertical eye movements. Reported in nine members of Spanish kindred to date. Disease onset occurs in adulthood (from the ages of 38-64). Clinical manifestations are slowly progressive cerebellar ataxia (starting with falls, dysarthria and clumsiness followed by other cerebellar signs) along with altered vertical eye movements. The causal gene is unknown but it has been mapped to chromosome 1p32 and named the SCA37 locus. Inherited in an autosomal dominant manner. 900000000000017005 +3315919012 20170131 1 900000000000207008 719302009 en 900000000000550004 Disease with characteristics of early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.Three families have been reported to date. Clinical manifestations include cerebellar signs (ataxia, dysarthria, and intention tremor) and eye movement abnormalities such as gaze-evoked nystagmus, down beat nystagmus, and impaired smooth pursuit. Occasionally defects of the visual field and horizontal gaze palsy can be also present. Non-cerebellar signs such as facial myokymia, resting tremor, writer's cramp, impaired vibration sense and brisk deep tendon reflexes have been reported in some patients. Caused by mutations in the SPTBN2 gene (11q13.2) encoding beta-III spectrin, a protein essential for the correct functioning and development of Purkinje cells. Inherited autosomal dominantly. 900000000000017005 +3315926012 20170131 1 900000000000207008 719304005 en 900000000000550004 Spondylometaphyseal dysplasia, Schmidt type has characteristics of short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. This condition has been reported in five members of an Algerian family and one Polish boy. Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified. 900000000000017005 +3315930010 20170131 1 900000000000207008 719305006 en 900000000000550004 This syndrome has characteristics of congenital conductive deafness due to stapes ankylosis, broad thumbs and first toes and hyperopia. So far, it has been described in multiple members of six families. Other skeletal malformations were also reported including short distal phalanges and syndactyly, but symphalangism is usually absent. Transmission is autosomal dominant and the syndrome is caused by mutations in the NOG gene (17q22). 900000000000017005 +3316141019 20170131 1 900000000000207008 719377004 en 900000000000550004 A very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. It has been described in two siblings. Both brother and sister had psychomotor retardation and died in the course of a respiratory infection. The reported cases suggest that the condition is hereditary, and is transmitted as an autosomal recessive trait. 900000000000017005 +3316146012 20170131 1 900000000000207008 719378009 en 900000000000550004 This syndrome has characteristics of profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. 900000000000017005 +3316151018 20170131 1 900000000000207008 719379001 en 900000000000550004 A very rare syndrome with the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. It has been described in three female siblings. Dysmorphic features were not characteristic. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. Prognosis is poor and all children died in infancy. 900000000000017005 +3316189011 20170131 1 900000000000207008 719380003 en 900000000000550004 Syndrome with characteristics of severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. 900000000000017005 +3316194011 20170131 1 900000000000207008 719394002 en 900000000000550004 This syndrome is characterised by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goitre, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant. 900000000000017005 +3316195012 20170131 1 900000000000207008 719394002 en 900000000000550004 This syndrome is characterized by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant. 900000000000017005 +3316200015 20170131 1 900000000000207008 719395001 en 900000000000550004 A rare syndrome with characteristics of onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. 900000000000017005 +3316200015 20210131 0 900000000000207008 719395001 en 900000000000550004 A rare syndrome with characteristics of onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. 900000000000017005 +3316205013 20170131 1 900000000000207008 719396000 en 900000000000550004 This syndrome has characteristics of microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes). Hypotonia, pre and postnatal growth retardation, a characteristic face (broad forehead with a low frontal hair line, a broad nasal bridge and prominent columella, hypoplastic alae nasi, short philtrum, and a straight mouth with thin lips and downward slanting palpebral fissures) and optic atrophy were also reported. 900000000000017005 +3316209019 20170131 1 900000000000207008 719397009 en 900000000000550004 A rare skeletal disease with characteristics of symmetric shortening of the middle segments of limbs and short stature. It has been described in five families. In the upper limbs, the ulnae are very short, and the radii are bowed. The distal humerus has a dumbbell shape. The hands show progressive flexion contractures of the proximal interphalangeal joints. In the lower limbs, feet are fixed in plantar flexion so that the patients walk on their toe tips. All affected patients have normal craniofacial features and intelligence. Two micro duplications have been identified on chromosome 2 (2q31.1-q31.2), separated by a segment of normal copy number. In all families, the condition is transmitted as an autosomal dominant trait. 900000000000017005 +3316214015 20170131 1 900000000000207008 719398004 en 900000000000550004 An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date with the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. 900000000000017005 +3316219013 20170131 1 900000000000207008 719400000 en 900000000000550004 Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents. Patients were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe malformation of the left heart which may have been responsible for death of all 3 in the first week or so of life. 900000000000017005 +3316226013 20170131 1 900000000000207008 719402008 en 900000000000550004 Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. 900000000000017005 +3316227016 20170131 1 900000000000207008 719402008 en 900000000000550004 Waters-West syndrome is characterised by the association of lethal non-spherocytic, non-immune haemolytic anaemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. 900000000000017005 +3316230011 20170131 1 900000000000207008 719403003 en 900000000000550004 This disease is a non-progressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. 900000000000017005 +3316234019 20170131 1 900000000000207008 719404009 en 900000000000550004 An extremely rare lethal form of chondrodysplasia with characteristics of severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. 900000000000017005 +3316237014 20170131 1 900000000000207008 719405005 en 900000000000550004 The association of leukoencephalopathy and metaphyseal chondrodysplasia has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27. 900000000000017005 +3316245016 20170131 1 900000000000207008 719408007 en 900000000000550004 Syndrome with the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. This syndrome is likely to be inherited as an autosomal recessive condition. 900000000000017005 +3316248019 20170131 1 900000000000207008 719409004 en 900000000000550004 Larsen-like syndrome, lethal type, has characteristics of multiple joint dislocation and respiratory insufficiency due to tracheomalacia and or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients. Genetic factors have not been ruled out. 900000000000017005 +3316263016 20170131 1 900000000000207008 719306007 en 900000000000550004 The syndrome is characterized by generalized multiple steatocystoma and natal teeth. It has been described in a five-generation Chinese family with at least 21 affected patients. The same condition has been reported in one additional sporadic case. Autosomal dominant inheritance has been suggested. 900000000000017005 +3316264010 20170131 1 900000000000207008 719306007 en 900000000000550004 The syndrome is characterised by generalised multiple steatocystoma and natal teeth. It has been described in a five-generation Chinese family with at least 21 affected patients. The same condition has been reported in one additional sporadic case. Autosomal dominant inheritance has been suggested. 900000000000017005 +3316305011 20170131 1 900000000000207008 719425009 en 900000000000550004 The sudden, unexpected, witnessed or unwitnessed, non-traumatic, and non-drowning death in patients with epilepsy with or without evidence for a seizure, and excluding documented status epilepticus, in which postmortem examination does not reveal a structural or toxicological cause for death. 900000000000017005 +3316316016 20170131 1 900000000000207008 719429003 en 900000000000550004 The association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. So far, only eight cases have been described in the literature. Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit and hypodontia. Transmission is autosomal recessive. 900000000000017005 +3316319011 20170131 1 900000000000207008 719430008 en 900000000000550004 Leber plus disease describes patients with the clinical features of Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally inherited mitochondrial DNA (mtDNA) mutations. 900000000000017005 +3316322013 20170131 1 900000000000207008 719431007 en 900000000000550004 An inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease. 900000000000017005 +3316323015 20170131 1 900000000000207008 719431007 en 900000000000550004 An inherited retinal dystrophy characterised by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularisation and glaucoma may occur in the late stages of the disease. 900000000000017005 +3316326011 20170131 1 900000000000207008 719432000 en 900000000000550004 A subtype of junctional epidermolysis bullosa the condition occurs in childhood or young adulthood. 22 patients in 12 families have been reported to date. Blistering occurs at first around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, knees, along with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. COL17A1 mutations have recently been described in an affected family. The condition follows an autosomal recessive pattern of inheritance. 900000000000017005 +3316361017 20170131 1 900000000000207008 414492009 en 900000000000550004 Inflammation of skin adjacent to an infectious site by autoinoculation; appears as eczematous plaque with or without vesicles. 900000000000017005 +3316397014 20170131 1 900000000000207008 719449007 en 900000000000550004 An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. 900000000000017005 +3316398016 20170131 1 900000000000207008 719449007 en 900000000000550004 An extremely rare autosomal recessive glycine metabolism disorder characterised clinically in the single reported case to date by muscle fatigue and a fish-like odour. 900000000000017005 +3316403015 20170131 1 900000000000207008 719450007 en 900000000000550004 A rare association of malformations described in only three patients including two siblings. The first patient had profound intellectual deficit and clinical features including short stature, coarse face, deep-set eyes, microphthalmia, large ears, gynoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Mullerian structures, and low gonadotrophin levels. His XY sibling was raised as a girl, was slightly mentally impaired and had microphthalmia and large ears and short stature. The third patient had severe hearing loss, ocular colobomata, hypogonadism of central origin, distinct craniofacial features and skeletal anomalies with cervical spina bifida, hyperkyphosis and thoracic deformity. All patients had a normal 46, XY karyotype. Inheritance could be either autosomal recessive or X-linked. 900000000000017005 +3316409016 20170131 1 900000000000207008 719451006 en 900000000000550004 Syndrome that associates dilated cardiomyopathy with hypergonadotropic hypogonadism. Prevalence is unknown but less than 20 affected families have been described in the literature so far. Occasional findings include a broad nasal base, blepharoptosis, mild intellectual deficit, mild skeletal anomalies and metabolic abnormalities. Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype but with additional findings that included a narrow chest, sloping shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia). Transmission appears to be autosomal recessive. 900000000000017005 +3316418019 20170131 1 900000000000207008 719453009 en 900000000000550004 A newly discovered form of congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner. 900000000000017005 +3316419010 20170131 1 900000000000207008 719453009 en 900000000000550004 A newly discovered form of congenital dyserythropoietic anaemia characterised by ineffective erythropoiesis and haemolysis that leads to severe anaemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner. 900000000000017005 +3316423019 20170131 1 900000000000207008 719454003 en 900000000000550004 A severe anomaly of bile acid synthesis with manifestation of severe neonatal cholestatic liver disease. To date, only 2 cases of this disorder have been reported. Caused by mutations in the 7-alpha hydroxylase gene (CYP7B1, 8q21.3). The deficiency in oxysterol 7-alpha-hydroxylation leads to the accumulation of hepatotoxic unsaturated monohydroxy bile acids. The mode of transmission is presumed to be autosomal recessive. 900000000000017005 +3316427018 20170131 1 900000000000207008 719455002 en 900000000000550004 Cone dystrophy with supernormal rod response is an inherited retinopathy, with an onset in the first or second decade of life. The disease has characteristics of poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia and occasionally nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of the disease is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation. 900000000000017005 +3316433010 20170131 1 900000000000207008 719456001 en 900000000000550004 A multiple congenital anomaly syndrome described in 5 patients to date. Characteristics include flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects, which were lethal in 3 of the 5 patients. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997. 900000000000017005 +3316453014 20170131 1 900000000000207008 719466009 en 900000000000550004 A multiple congenital anomalies syndrome described in a father and son with the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993. 900000000000017005 +3316457010 20170131 1 900000000000207008 719468005 en 900000000000550004 Syndrome with characteristics of cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971. 900000000000017005 +3316470018 20170131 1 900000000000207008 719471002 en 900000000000550004 A rhizo-mesomelic dysplasia with characteristics of rhizomelic short stature in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. The syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. 900000000000017005 +3316491014 20170131 1 900000000000207008 719475006 en 900000000000550004 CLOVE syndrome has characteristics of congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformations and epidermal nevi. To date, less than 15 cases have been reported in the literature. Patients also present with disproportionate fat distribution. CLOVE syndrome may be associated with varying degrees of scoliosis and enlarged bony structures without progressive bony overgrowth. The presence of scoliosis/skeletal manifestations has led to the suggestion that the acronym CLOVE should be expanded to CLOVES. 900000000000017005 +3316577017 20170131 1 900000000000207008 154091000119106 en 900000000000550004 Decline of physiological, mental or physical functional process applied to any age range and any baseline status. 900000000000017005 +3316640017 20170131 1 900000000000207008 719510006 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with symmetric weakness primarily occurring in the lower limbs and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. Presents with gait anomaly between the first and sixth decade and early onset is generally associated to a more severe phenotype that may include foot drop. 900000000000017005 +3316643015 20170131 1 900000000000207008 719511005 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated with development of foot deformity and walking difficulties between the first and the eighth decades. Weakness and sensory loss involve primarily the legs and ankles, tendon reflexes are reduced. The disease has a slowly progressive course. 900000000000017005 +3316646011 20170131 1 900000000000207008 719512003 en 900000000000550004 A rare form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with characteristics of a mild phenotype, onset during the second decade of life and very slow progression. Walking ability is retained. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. 900000000000017005 +3316649016 20170131 1 900000000000207008 719513008 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. 900000000000017005 +3316652012 20170131 1 900000000000207008 719514002 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy with characteristics of congenital pstosis and early cataract. Associated with a mildly progressive peripheral neuropathy of variable onset from birth to the sixth decade, pes cavus, reduced to absent ankle tendon reflexes and sometimes neutropenia. 900000000000017005 +3316655014 20170131 1 900000000000207008 719515001 en 900000000000550004 A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with characteristics of distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. 900000000000017005 +3316658011 20170131 1 900000000000207008 719516000 en 900000000000550004 A form of focal dystonia with characteristics of cervical, laryngeal and hand-forearm dystonia. 900000000000017005 +3316662017 20170131 1 900000000000207008 719517009 en 900000000000550004 A form of autosomal dominant optic atrophy with characteristics of early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. Caused by mutations in the OPA3 gene (19q13.32). 900000000000017005 +3316666019 20170131 1 900000000000207008 719518004 en 900000000000550004 A rare genetic skin disorder with the absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. To date, ten individuals have been reported. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Palmoplantar keratoderma develops during infancy and may have an unusual pattern. The genetic basis is unknown. Transmission appears to be autosomal dominant. 900000000000017005 +3316669014 20170131 1 900000000000207008 719519007 en 900000000000550004 This syndrome has characteristics of slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions. Only four cases have been described so far. Treatment with a corticoid nasal spray led to regression of the exophthalmos within several days. 900000000000017005 +3316669014 20190731 0 900000000000207008 719519007 en 900000000000550004 This syndrome has characteristics of slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions. Only four cases have been described so far. Treatment with a corticoid nasal spray led to regression of the exophthalmos within several days. 900000000000017005 +3316672019 20170131 1 900000000000207008 719520001 en 900000000000550004 A progressive autosomal dominant macular dystrophy with characteristics of parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration. 900000000000017005 +3316672019 20210131 0 900000000000207008 719520001 en 900000000000550004 A progressive autosomal dominant macular dystrophy with characteristics of parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration. 900000000000017005 +3316675017 20170131 1 900000000000207008 719521002 en 900000000000550004 A rare functional disorder with recurrent episodes of torticollis posturing of the head (inclination or tilting of the head to one side) in healthy children. The prevalence is unknown and the benign nature of the disorder probably means that it is under reported. Onset occurs within the first year of life with episodes occurring between every few weeks and every few months. The duration of the torticollis varies between patients, but usually lasts from a few hours to a few days. The frequency and duration of the torticollis episodes decrease as the patient gets older and episodes usually stop completely by 5 years of age. The disorder usually occurs sporadically, but familial occurrence has been reported. 900000000000017005 +3316820010 20170131 1 900000000000207008 719582007 en 900000000000550004 This syndrome has characteristics of variable psychomotor delay and dysmorphic features. It has been recently described in less than ten patients. Clinical presentation is variable but it is possible to delineate a common clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete craniofacial dysmorphic features including a high forehead with frontal bossing, a small nose and a small mouth. The microduplication encompasses the same region that is deleted in Miller-Dieker (17p13 deletion) syndrome. The variable size of this de novo duplication indicates that mechanisms other than nonallelic homologous recombination may be responsible. 900000000000017005 +3316946013 20170131 1 900000000000207008 719563003 en 900000000000550004 A sighted guide is a person that escorts a visually impaired individual and assists them with for example reading of signs. 900000000000017005 +3316966016 20170131 1 900000000000207008 719572006 en 900000000000550004 Review of proposed plans for housing adaptation to ensure that the changing needs of occupants are met across their lifetime. 900000000000017005 +3316972016 20170131 1 900000000000207008 719576009 en 900000000000550004 A recently described syndrome with characteristics of developmental delay and facial dysmorphism. Facial features include flat facies, downslanting palpebral fissures, low-set and malformed ears. Orofacial clefting, heart defects, short stature, feeding difficulties and hypotonia can be observed. This syndrome is caused by an interstitial deletion encompassing 16p11.2-p12.2. These deletions arise de novo and are flanked by segmental duplications suggesting that the underlying mechanism is non-allelic homologous recombination. 900000000000017005 +3316976018 20170131 1 900000000000207008 719577000 en 900000000000550004 A recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. Facial features include down-slanting palpebral fissures, short nose, low-set ears, wide mouth and thin upper lip. Variable congenital anomalies can also be observed. This syndrome is caused by an interstitial deletion encompassing 16p13.11. The underlying mechanism is non-allelic homologous recombination. Microdeletions appear de novo or are inherited from mildly affected or completely normal parents in an autosomal dominant manner, suggesting that the microdeletion has incomplete penetrance and variable expressivity. 900000000000017005 +3316977010 20170131 1 900000000000207008 719577000 en 900000000000550004 A recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Facial features include down-slanting palpebral fissures, short nose, low-set ears, wide mouth and thin upper lip. Variable congenital anomalies can also be observed. This syndrome is caused by an interstitial deletion encompassing 16p13.11. The underlying mechanism is non-allelic homologous recombination. Microdeletions appear de novo or are inherited from mildly affected or completely normal parents in an autosomal dominant manner, suggesting that the microdeletion has incomplete penetrance and variable expressivity. 900000000000017005 +3316979013 20170131 1 900000000000207008 719427001 en 900000000000550004 Syndrome characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. The clinical picture is highly variable even within the same family. Paternal duplications are rarely symptomatic (developmental delay/ behavioral disorders). The syndrome is due to interstitial duplications that encompass the imprinted Prader-Willi/Angelman critical region, of which deletions lead to Prader-Willi and Angelman syndromes. The causative genes are imprinted and expressed from the maternal allele. 900000000000017005 +3316980011 20170131 1 900000000000207008 719427001 en 900000000000550004 Syndrome characterised by neurobehavioural disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. The clinical picture is highly variable even within the same family. Paternal duplications are rarely symptomatic (developmental delay/ behavioural disorders). The syndrome is due to interstitial duplications that encompass the imprinted Prader-Willi/Angelman critical region, of which deletions lead to Prader-Willi and Angelman syndromes. The causative genes are imprinted and expressed from the maternal allele. 900000000000017005 +3316987014 20170131 1 900000000000207008 719578005 en 900000000000550004 A recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear. 900000000000017005 +3316988016 20170131 1 900000000000207008 719578005 en 900000000000550004 A recently described syndrome associated with variable clinical features including behavioural abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear. 900000000000017005 +3316992011 20170131 1 900000000000207008 719580004 en 900000000000550004 A recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. This syndrome is caused by an interstitial deletion encompassing 16q24.3. They vary in size the common region of overlap is only 90 kb and comprises two candidates genes, ANKRD11 (Ankyrin Repeat Domain 11) and ZNF778 (Zinc Finger 778). 900000000000017005 +3317001017 20170131 1 900000000000207008 719583002 en 900000000000550004 Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance. 900000000000017005 +3317006010 20170131 1 900000000000207008 719584008 en 900000000000550004 A recently described syndrome with characteristics of developmental delay, microcephaly, short stature, heart defects and limb abnormalities. The syndrome is caused by an interstitial deletion encompassing 17q23.1q23.2. The underlying mechanism is non-allelic homologous recombination. Parental FISH testing in five of the seven cases confirmed a de novo origin. The minimal deletion region of 2.2 Mb encompasses 2 transcription factors, TBX2 and TBX4, which are good candidate genes for explaining the phenotype. 900000000000017005 +3317080018 20170131 1 900000000000207008 719595002 en 900000000000550004 This syndrome has characteristics of neonatal blisters, milia and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. 900000000000017005 +3317086012 20170131 1 900000000000207008 719597005 en 900000000000550004 A newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. It has been reported in 6 patients to date. Facial dysmorphism includes brachycephaly, anteverted nares and ear malformations. Cardiac defects and abnormal behavior characterized by auto and hetero-aggressivity and hyperactivity can be observed. This interstitial microdeletion was identified by comparative genomic hybridization microarray and its size is variable. 900000000000017005 +3317087015 20170131 1 900000000000207008 719597005 en 900000000000550004 A newly described syndrome characterised by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. It has been reported in 6 patients to date. Facial dysmorphism includes brachycephaly, anteverted nares and ear malformations. Cardiac defects and abnormal behaviour characterised by auto and hetero-aggressivity and hyperactivity can be observed. This interstitial microdeletion was identified by comparative genomic hybridisation microarray and its size is variable. 900000000000017005 +3317095016 20170131 1 900000000000207008 719599008 en 900000000000550004 The 19q13.11 microdeletion has characteristics of several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplastic nails. To date, the syndrome has been identified in five patients. Haploinsufficiency of one or more genes in the 19q13.11 region could cause this microdeletion syndrome. 900000000000017005 +3317107016 20170131 1 900000000000207008 719600006 en 900000000000550004 An extremely rare chromosomal anomaly with characteristics of severe speech and language delay, intellectual deficiency, autism spectrum disorder. Less than 10 cases have been reported to date. The syndrome is caused by a hemizygous interstitial microdeletion on the short arm of chromosome 1, occurring mostly de novo, that implicates DPYD (dihydropyrimidine dehydrogenase) and MIR137 genes associated with miRNA pathways. 900000000000017005 +3317242013 20170131 1 900000000000207008 719649004 en 900000000000550004 A newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. It has been reported in four unrelated patients. The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients. 900000000000017005 +3317246011 20170131 1 900000000000207008 719650004 en 900000000000550004 A recently described syndrome with characteristics of Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Dysmorphic features include macrocephaly, hypertelorism, down-slanting palpebral fissures and microstomia. This syndrome is caused by an interstitial deletion encompassing 20p12.3. All these deletions except one occurred de novo and have a variable size with the smallest region of overlap including only one gene, BMP2, which is a good candidate gene for explaining the phenotype of Wolff-Parkinson-White syndrome. 900000000000017005 +3317250016 20170131 1 900000000000207008 719651000 en 900000000000550004 A recently described syndrome with characteristics of developmental delay and facial dysmorphism. Dysmorphic features include receding forehead, telecanthus, epicanthic fold, short and down-slanting palpebral fissures, ptosis, broad and high nasal bridge, retrognathia, flat philtrum, small mouth with high, narrow palate and everted lower lip. This syndrome is caused by an interstitial deletion 2p15p16.1 (present in mosaic in one patient). These de novo deletions have a variable size from 570 kb to 5.7 Mb and encompass several genes. Haploinsufficiency of these genes could contribute to the phenotype. 900000000000017005 +3317254013 20170131 1 900000000000207008 719652007 en 900000000000550004 The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. It has been described in seven patients from three families of a small Bedouin clan. Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. Reduced activity of the respiratory chain complexes I, III, IV and V was found in patients examined. The syndrome is caused by homozygous deletion of at least four contiguous genes on chromosome 2: SLC3A1, PREPL, PPM1B and C2orf34 (2p21). 900000000000017005 +3317255014 20170131 1 900000000000207008 719652007 en 900000000000550004 The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidaemia. It has been described in seven patients from three families of a small Bedouin clan. Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. Reduced activity of the respiratory chain complexes I, III, IV and V was found in patients examined. The syndrome is caused by homozygous deletion of at least four contiguous genes on chromosome 2: SLC3A1, PREPL, PPM1B and C2orf34 (2p21). 900000000000017005 +3317271014 20170131 1 900000000000207008 719657001 en 900000000000550004 The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behavior, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalized brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5. 900000000000017005 +3317272019 20170131 1 900000000000207008 719657001 en 900000000000550004 The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioural abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behaviour, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalised brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5. 900000000000017005 +3317276016 20170131 1 900000000000207008 719658006 en 900000000000550004 A chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 with clinical characteristics of a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. 900000000000017005 +3317280014 20170131 1 900000000000207008 719659003 en 900000000000550004 A recently described syndrome with characteristics of a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features. It has been described in fewer than 25 patients to date. Facial features include downslanting palpebral fissures, low-set ears and prominent nasal bridge. Most patients also have a high-arched palate or cleft palate. Some individuals have an ectodermal dysplasia-like phenotype, with thin, transparent skin and abnormalities of the hair and teeth. The size of the deletions is variable from 35 kb to 10.4 Mb. Haploinsufficiency of SATB2 is responsible for several of the clinical features. 900000000000017005 +3317284017 20170131 1 900000000000207008 719660008 en 900000000000550004 A newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. It has been reported in nine unrelated patients. The most common facial feature includes high or broad forehead, hypertelorism and short philtrum. Short hands and feet are frequently observed. The microdeletion critical region encompasses two candidate genes, PRKG2 and RASGEF1B, in which haploinsufficiency could participate to the phenotype. 900000000000017005 +3317288019 20170131 1 900000000000207008 719661007 en 900000000000550004 The newly described syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. To date, fourteen patients have been reported. Miscellaneous dysmorphic facial features are present in all cases, but some common features are noticed, high and wide forehead, pronounced eyebrows, anteverted nostrils, short and prominent philtrum, down-turned corners of the mouth and small chin. Stereotypic movements and poor eye contact are present in many patients, suggesting the diagnosis of autism spectrum disorder. The size of deletions varies, the minimal common deleted region encompasses only MEF2C, suggesting that haploinsufficiency of MEF2C is responsible for the phenotype. 900000000000017005 +3317292014 20170131 1 900000000000207008 719662000 en 900000000000550004 A newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. Eight cases have been reported to date. The most common facial features include eye anomalies: strabismus, deeply set eyes, and epicanthic folds and ear anomalies such as over-folded helices and low-set ears. Reported patients have deletions of variable size. The critical region for the 6p22 deletion phenotype is 2.2 Mb and encompasses 12 genes; their function is still largely unknown. 900000000000017005 +3317296012 20170131 1 900000000000207008 719663005 en 900000000000550004 A recently described syndrome with characteristics of developmental delay, facial dysmorphism and hearing loss. It has been diagnosed in 4 patients. All of them presented with microcephaly, developmental delay, dysmorphic features and hearing loss, two of them had agenesis of the corpus callosum. Dysmorphic features include midface hypoplasia, hypertelorism, broad nasal root and posteriorly rotated ears.This syndrome is caused by an interstitial deletion encompassing 6q25.2-q25.3. These de novo deletions have a variable size with the smallest region of overlap of 3.52 Mb. 900000000000017005 +3317301012 20170131 1 900000000000207008 719664004 en 900000000000550004 A rare microdeletion syndrome associated with a distinct facial appearance. It has been reported in four unrelated patients. A mask-like facial appearance is the most characteristic feature with blepharophimosis, tight appearing glistening facial skin, flat and broad nose, dysplastic ears and unusual scalp hair pattern. Camptodactyly, joint contractures, unusual dentition and mild developmental delay can be observed. Cryptorchidism in boys and a happy disposition are constant. 900000000000017005 +3317305015 20170131 1 900000000000207008 719665003 en 900000000000550004 The newly described syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. It has been reported in two unrelated patients. There is no remarkable facial dysmorphism. The clinical picture is opposite to that of patients with Sotos syndrome. The breakpoints of the duplication in both patients map to the proximal and distal low-copy repeats which flank the Sotos critical region. These findings support a non-allelic homologous recombination as the mechanism of duplication, and a dosage effect of the Sotos gene NSD1 (5q35). 900000000000017005 +3317318011 20170131 1 900000000000207008 719567002 en 900000000000550004 Review of new housing to ensure that the changing needs of occupants are met across their lifetime. 900000000000017005 +3317334014 20170131 1 900000000000207008 38371006 en 900000000000550004 Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance. 900000000000017005 +3317354010 20170131 1 900000000000207008 719666002 en 900000000000550004 Syndrome marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. Isolated terminal 6q deletion syndrome is very rare with less than 20 cases being reported in the literature. The most frequent craniofacial anomalies include microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set and a characteristic downturned mouth. The most commonly described neurological features are psychomotor retardation, hypotonia and seizures. Retinal anomalies are also common. The breakpoints are located between chromosome regions 6q25.3 and 6q26, within the fragile site FRA6E. 900000000000017005 +3317381010 20170131 1 900000000000207008 24878005 en 900000000000550004 Surgery performed to "fix" atypical or ambiguous genitalia, a form of genital reconstructive surgery, primarily for the purposes of making the appearance more normal and to reduce the likelihood of future problems. 900000000000017005 +3317391016 20170131 1 900000000000207008 719670005 en 900000000000550004 Surgical procedure (or procedures) by which a transgender person's physical appearance and function of their existing sexual characteristics are altered to resemble that of their identified gender. 900000000000017005 +3317470013 20170131 1 900000000000207008 719575008 en 900000000000550004 A recently described syndrome with characteristics of developmental delay, short stature and facial dysmorphism. Dysmorphic features include bi-temporal narrowing, smooth philtrum, pointed chin and dysmorphic ears. All reported patients had a cleft palate, whereas congenital heart defects or epilepsy are observed in patients with large deletions. Deletions are located within chromosome band 15q14, distal to the Prader-Willi/Angelman region. They have a variable size with the smallest deletion being 1.6 Mb in length. 900000000000017005 +3317471012 20170131 1 900000000000207008 719568007 en 900000000000550004 Review of proposed architectural plan for new housing to ensure that the changing needs of occupants are met across their lifetime. 900000000000017005 +3317472017 20170131 1 900000000000207008 719571004 en 900000000000550004 Review of adaptations made to housing to ensure that the changing needs of occupants are met across their lifetime. 900000000000017005 +3317473010 20170131 1 900000000000207008 719569004 en 900000000000550004 A visit to view new housing in order to ensure that the changing needs of occupants are met across their lifetime. 900000000000017005 +3317477011 20170131 1 900000000000207008 719646006 en 900000000000550004 A contiguous gene syndrome with characteristics of the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. It has been described in 8 patients to date. Common dysmorphic features include micrognathia, microcephaly, preauricular pits, high-arched palate and abnormal ears. All patients except one have intellectual deficit. The syndrome is caused by deletions of the proximal part of the short arm of chromosome 8 (8p11.1 to 8p21). The deletions can be cytogenetically detected and their size is variable. The loss of the ankyrin-1 gene (ANK1) results in congenital spherocytosis. 900000000000017005 +3317481011 20170131 1 900000000000207008 719684000 en 900000000000550004 Syndrome associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy and Duane anomaly. It has been described in two patients. The lack of recurrent breakpoints in these two cases and the absence of any low-copy repeats pairs that flank these de novo events do not support non-allelic homologous recombination as the mutation mechanism. The 8q12 region includes CHD7 and it is proposed that this gene, associated with CHARGE syndrome by haploinsufficiency, causes a different phenotype by gain-of-dosage. 900000000000017005 +3317484015 20170131 1 900000000000207008 719685004 en 900000000000550004 An exceedingly rare autosomal recessive immune disease with characteristics of thumb aplasia, short stature with skeletal abnormalities and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. 900000000000017005 +3317489013 20170131 1 900000000000207008 719686003 en 900000000000550004 A rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. Around 50 cases of pure distal monosomy 10p have been reported. The phenotype remains unclear: low birth weight, persistent growth delay, mild psychomotor retardation and hypotonia have been reported, together with single reports of ventricular septal defect, hydrocephalus and hypogenitalia. Distal monosomy 10p generally occurs de novo or may be associated with a parental translocation. 900000000000017005 +3317492012 20170131 1 900000000000207008 719687007 en 900000000000550004 A very rare syndrome with the association of gingival fibromatosis and craniofacial dysmorphism. It has been described in two siblings. Craniofacial dysmorphism consists of relative macrocephaly, bushy eyebrows with synophrys, hypertelorism, downslanting palpebral fissures, flattened nasal bridge and high arched palate. The patients have normal intellect.The condition seems to be hereditary, transmitted as an autosomal recessive trait. 900000000000017005 +3317496010 20170131 1 900000000000207008 719688002 en 900000000000550004 A skeletal dysplasia with characteristics of multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. It has been described in 4 children from one Omani family. Dysmorphic features consist of macrocephaly with frontal bossing, hypertelorism, flat malar region, low-set ears and short neck. The disease gene has been mapped to the telomeric region of the long arm of chromosome 15. The condition is transmitted in an autosomal recessive manner. 900000000000017005 +3317500012 20170131 1 900000000000207008 719689005 en 900000000000550004 A skeletal dysplasia with characteristics of epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness and stubby digits. It has been described in one family in which the mother and three of her four children were affected. The condition is caused by a mutation in the COL2A1 gene (12q13.11-q13.2) and is transmitted in an autosomal dominant manner. 900000000000017005 +3317561013 20170131 1 900000000000207008 719715003 en 900000000000550004 This attribute is used to specify the denominator of a relative relational property type, such as a ratio of ratios 900000000000017005 +3317561013 20180731 1 900000000000012004 719715003 en 900000000000550004 This attribute is used to specify the denominator of a relative relational property type, such as a ratio of ratios 900000000000017005 +3317583012 20170131 1 900000000000207008 719722006 en 900000000000550004 This attribute specifies the realization of a function 900000000000017005 +3317583012 20180731 1 900000000000012004 719722006 en 900000000000550004 This attribute specifies the realization of a function 900000000000017005 +3317670016 20170131 1 900000000000207008 719753008 en 900000000000550004 A procedure to remove the remaining thyroid tissue after a previous partial thyroid resection. 900000000000017005 +3317722015 20170131 1 900000000000207008 719758004 en 900000000000550004 Supports use of dictaphone to capture information given in a consultation. Required when information that is important from the healthcare professional that is usually given in written format cannot be provided in this manner and is required to be recorded by the healthcare professional onto a personal audio recording device. 900000000000017005 +3317730019 20170131 1 900000000000207008 719759007 en 900000000000550004 Offspring of one's mother's sibling. 900000000000017005 +3317731015 20170131 1 900000000000207008 719760002 en 900000000000550004 Offspring of one's father's sibling. 900000000000017005 +3317740016 20170131 1 900000000000207008 719764006 en 900000000000550004 The daughter of one's father who has a different mother. 900000000000017005 +3317741017 20170131 1 900000000000207008 719762005 en 900000000000550004 The son of one's father who has a different mother, 900000000000017005 +3317746010 20170131 1 900000000000207008 719765007 en 900000000000550004 The daughter of one's mother who has a different father. 900000000000017005 +3317750015 20170131 1 900000000000207008 719766008 en 900000000000550004 The son of one's mother who has a different father. 900000000000017005 +3317759019 20170131 1 900000000000207008 719769001 en 900000000000550004 The grandmother on one's mother's side. 900000000000017005 +3317760012 20170131 1 900000000000207008 719768009 en 900000000000550004 The grandmother on one's father's side. 900000000000017005 +3317762016 20170131 1 900000000000207008 719770000 en 900000000000550004 The grandfather on one's father's side. 900000000000017005 +3317765019 20170131 1 900000000000207008 719771001 en 900000000000550004 The grandfather on one's mother's side. 900000000000017005 +3317834016 20170131 1 900000000000207008 719787003 en 900000000000550004 Drugs for dementia can be initiated by a specialist but continued to be prescribed by a general practitioner/primary care physician under a shared care prescribing arrangement. 900000000000017005 +3317985013 20170131 1 900000000000207008 719808002 en 900000000000550004 This syndrome has characteristics of moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. 900000000000017005 +3317988010 20170131 1 900000000000207008 719809005 en 900000000000550004 This syndrome has characteristics of moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linke 900000000000017005 +3317992015 20170131 1 900000000000207008 719810000 en 900000000000550004 This syndrome has characteristics of intellectual deficit, seizures and psoriasis. It has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive. 900000000000017005 +3317996017 20170131 1 900000000000207008 719811001 en 900000000000550004 This syndrome has characteristics of intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome. 900000000000017005 +3318000018 20170131 1 900000000000207008 719812008 en 900000000000550004 This syndrome has characteristics of severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism. 900000000000017005 +3318004010 20170131 1 900000000000207008 719813003 en 900000000000550004 An extremely rare multiple congenital abnormality syndrome that has characteristics of microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. 900000000000017005 +3318007015 20170131 1 900000000000207008 719814009 en 900000000000550004 Describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. The clinical manifestation is mycobacterial infections occurring in males. Diagnosis is made by laboratory analysis. Low levels of IFN-gamma and IL-12 production by the patients' mononuclear cells upon phytohemagglutinin (PHA) are detected in those with an IKBKG mutation. In addition, an impaired IL-12 production by monocytes upon PHA stimulation by activated T cells is shown. Impaired NADPH activity is demonstrated in vitro in macrophages and B-cell lines in those with a CYBB mutation. A mutational analysis is necessary to identify the exact causative genes involved allowing for the implementation of a specific treatment plan. 900000000000017005 +3318011014 20170131 1 900000000000207008 719815005 en 900000000000550004 This myopathy is a childhood-onset X-linked myopathy with characteristics of slow progression of muscle weakness and unique histopathological findings. It has been described in about fifteen families The first manifestations appear typically in children around 5-10 years of age and include difficulty climbing stairs and running. Transmission is X-linked recessive; female carriers are asymptomatic or only mildly affected. The Xq28 locus has been associated with the disease. 900000000000017005 +3318017013 20170131 1 900000000000207008 719816006 en 900000000000550004 A rare syndromic inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non or slowly progressive spinocerebellar ataxia. Caused by mutations in the ABCB7 gene (Xq13.3), encoding a mitochondrial ATP-binding cassette (ABC) transporter protein, which plays a role in heme production and iron homeostasis. A mutation in this gene alters the availability of reduced iron and therefore disrupts heme biosynthesis. The ABCB7 gene is highly expressed in both the bone marrow and the cerebellum, which may explain ataxia. Inherited in an X-linked recessive manner. 900000000000017005 +3318018015 20170131 1 900000000000207008 719816006 en 900000000000550004 A rare syndromic inherited form of sideroblastic anaemia characterised by mild to moderate anaemia (with hypochromia and microcytosis) and early-onset, non or slowly progressive spinocerebellar ataxia. Caused by mutations in the ABCB7 gene (Xq13.3), encoding a mitochondrial ATP-binding cassette (ABC) transporter protein, which plays a role in heme production and iron homeostasis. A mutation in this gene alters the availability of reduced iron and therefore disrupts heme biosynthesis. The ABCB7 gene is highly expressed in both the bone marrow and the cerebellum, which may explain ataxia. Inherited in an X-linked recessive manner. 900000000000017005 +3318020017 20170131 1 900000000000207008 719817002 en 900000000000550004 This syndrome is a form of spinocerebellar degeneration with onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia and optic atrophy and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. 900000000000017005 +3318024014 20170131 1 900000000000207008 719818007 en 900000000000550004 Spinocerebellar ataxia, X-linked, type 4 has characteristics of ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life. 900000000000017005 +3318027019 20170131 1 900000000000207008 719819004 en 900000000000550004 Syndrome complex that has characteristics of the cutaneous features of xeroderma pigmentosum together with the systemic and neurological features of Cockayne syndrome. Less than 30 cases have been described to date. The disease manifests during infancy. Patients present with cutaneous UV-sensitive lesions that generally develop into skin cancer and also develop characteristic Cockayne syndrome manifestations such as microcephaly, hydrocephalus, cachexia, premature ageing, dwarfism, skin atrophy, arteriosclerosis, progressive hearing loss, cognitive deficit, spasticity, ataxia, pigmentary retinopathy and optic atrophy. Affected individuals have mutations in one of three XP genes: ERCC3 (2q21), ERCC2 (19q13.3), or ERCC5 (13q22-q34). Transmission is autosomal recessive. 900000000000017005 +3318039010 20170131 1 900000000000207008 719097002 en 900000000000550004 An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family. The syndrome has characteristics of intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971. 900000000000017005 +3318043014 20170131 1 900000000000207008 719823007 en 900000000000550004 This syndrome has characteristics of cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. It has initially been reported in six patients from three generations of one family. Four affected members of another family manifesting a similar constellation of clinical features have recently been reported. An additional feature may be an antimongoloid slant of the palpebral fissures. 900000000000017005 +3318047010 20170131 1 900000000000207008 719824001 en 900000000000550004 A very rare and severe congenital multisystem disorder with the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Usually diagnosed in the first years of life. The phenotype is variable but the principal diagnostic features are almost always present at onset or evolve over time. Caused by mutations in the EPG5 gene (18q12.3) which encodes an important autophagy regulator, ectopic P-granules autophagy protein 5 (epg5). Formation of autolysosomes is specifically disturbed by an epg5 deficiency. 900000000000017005 +3318058018 20170131 1 900000000000207008 719825000 en 900000000000550004 This syndrome has characteristics of intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been located to the q12-q21 region of the X chromosome. 900000000000017005 +3318061017 20170131 1 900000000000207008 719826004 en 900000000000550004 This syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. 900000000000017005 +3318062012 20170131 1 900000000000207008 719826004 en 900000000000550004 This syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. 900000000000017005 +3318066010 20170131 1 900000000000207008 719827008 en 900000000000550004 A syndrome with characteristics of immune deficiency and neurological disorders in females and neonatal death in males. The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations. Symptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period. The gene locus has been mapped to Xq26-qter. 900000000000017005 +3318091010 20170131 1 900000000000207008 719833004 en 900000000000550004 This syndrome has characteristics of facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome. 900000000000017005 +3318092015 20170131 1 900000000000207008 719835006 en 900000000000550004 This syndrome has characteristics of wooly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. The wooly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. The syndrome is similar to Naxos disease. 900000000000017005 +3318096017 20170131 1 900000000000207008 719834005 en 900000000000550004 A very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. The syndrome has been described in two families to date. The syndrome has been linked to a mutation in the consensus donor splice site of the histone deacetylase 8 HDAC8 gene (Xq13). X-linked recessive transmission and X-linked dominant inheritance with absence of male-to-male transmission have been reported. 900000000000017005 +3318097014 20170131 1 900000000000207008 719834005 en 900000000000550004 A very rare X-linked multisystem genetic disease characterised by intellectual disability, truncal obesity, gynaecomastia, hypogonadism, dysmorphic facial features, and short stature. The syndrome has been described in two families to date. The syndrome has been linked to a mutation in the consensus donor splice site of the histone deacetylase 8 HDAC8 gene (Xq13). X-linked recessive transmission and X-linked dominant inheritance with absence of male-to-male transmission have been reported. 900000000000017005 +3318102012 20170131 1 900000000000207008 719835006 en 900000000000550004 This syndrome has characteristics of woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. The woolly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. The syndrome is similar to Naxos disease. 900000000000017005 +3318108011 20170131 1 900000000000207008 719836007 en 900000000000550004 A rare form of spinal muscular atrophy with characteristics of the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Patients have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. 900000000000017005 +3318111012 20170131 1 900000000000207008 719837003 en 900000000000550004 A rare genetic bone disorder with characteristics of chondrodysplasia, intrauterine growth retardation, hydrocephaly and facial dysmorphism in the affected males. The disease is severe and probably lethal in males, the clinical picture in females is less severe. The disease is due to a mutation in the histone deacetylase 6 HDAC6 gene (Xp11.3-q13.1) that causes a nucleotide substitution in the 3' untranslated region (UTR) of the HDAC6 transcript. This mutation lies in the seed sequence of microRNA-433 (hsa-miR-433) and abolishes the post-transcriptional regulation of HDAC6 expression by hsa-miR-433, resulting in the overexpression of the HDAC6 protein. Inheritance is X-linked dominant. 900000000000017005 +3318119014 20170131 1 900000000000207008 719839000 en 900000000000550004 This syndrome is characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The condition shows some similarities to the Gitelman and Bartter syndromes. The mode of transmission appears to be autosomal dominant. 900000000000017005 +3318120015 20170131 1 900000000000207008 719839000 en 900000000000550004 This syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The condition shows some similarities to the Gitelman and Bartter syndromes. The mode of transmission appears to be autosomal dominant. 900000000000017005 +3318125013 20170131 1 900000000000207008 719840003 en 900000000000550004 Syndrome with characteristics of renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants, all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. 900000000000017005 +3318131011 20170131 1 900000000000207008 719842006 en 900000000000550004 A very rare syndrome with characteristics of mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. It has been reported in two siblings. The family is suggestive of autosomal recessive inheritance. Prognosis is poor. 900000000000017005 +3318135019 20170131 1 900000000000207008 719843001 en 900000000000550004 A very rare malformation syndrome with characteristics of hypoplasia of ulna associated with hypoplastic to absent fourth and/or fifth digits, hypoplasia of fibula, short stature and facial dysmorphism. 900000000000017005 +3318139013 20170131 1 900000000000207008 719844007 en 900000000000550004 This syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage. Around 15 cases have been described so far. The aetiology is unknown. 900000000000017005 +3318140010 20170131 1 900000000000207008 719844007 en 900000000000550004 This syndrome is characterized by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine hemorrhage. Around 15 cases have been described so far. The etiology is unknown. 900000000000017005 +3318144018 20170131 1 900000000000207008 719845008 en 900000000000550004 A very rare syndrome with characteristics of blepharophimosis, arachnodactyly, joint contractures and dysmorphic features. Ten cases from seven families have been reported in the literature. The dysmorphic features include narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, blepharophimosis, large ears and high-arched or cleft palate. The affected patients can have learning disabilities. The condition is transmitted as an autosomal recessive trait. 900000000000017005 +3318203010 20170131 1 900000000000207008 719861005 en 900000000000550004 A process of working with others such as teachers, parents and care staff with the purpose of modifying their perceptions, attitudes, knowledge or understanding in order to enhance occupational performance within the patient’s social environment. 900000000000017005 +3318203010 20210131 0 900000000000207008 719861005 en 900000000000550004 A process of working with others such as teachers, parents and care staff with the purpose of modifying their perceptions, attitudes, knowledge or understanding in order to enhance occupational performance within the patient’s social environment. 900000000000017005 +3318345014 20170131 1 900000000000207008 719892007 en 900000000000550004 Bubbling and swinging are both dependant on an intact underwater seal and so can only be picked up if the drain tube extends below the water level in the bottle. Bubbling and swinging should be assessed with the patient deep breathing and if possible coughing. No bubbling or swinging may indicate that the chest drain is blocked. 900000000000017005 +3318416013 20170131 1 900000000000207008 699256006 en 900000000000550004 Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. 900000000000017005 +3318419018 20170131 1 900000000000207008 719907006 en 900000000000550004 Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes. 900000000000017005 +3318426018 20170131 1 900000000000207008 719909009 en 900000000000550004 Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The most frequently reported distal duplications involve the Xq28 segment and yield a phenotype including distinctive facial features, major axial hypotonia, severe developmental delay, severe feeding difficulties, abnormal genitalia and susceptibility to infections. Xq duplications may be caused either by an intrachromosomal duplication or by an unbalanced X/Y or X/autosome translocation. 900000000000017005 +3318432011 20170131 1 900000000000207008 719910004 en 900000000000550004 An autosomal dominant ectodermal dysplasia syndrome, with characteristics of uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia and associated with early-onset cataract, retinal pigmentary dystrophy and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. 900000000000017005 +3318435013 20170131 1 900000000000207008 719911000 en 900000000000550004 The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked. 900000000000017005 +3318547017 20170131 1 900000000000207008 719944006 en 900000000000550004 This syndrome has characteristics of growth retardation, alopecia, abnormally long eyelashes and retinitis pigmentosa. Moderate intellectual deficit was also present in the majority of cases. To date, 11 cases have been reported. Transmission is thought to be autosomal recessive. 900000000000017005 +3318550019 20170131 1 900000000000207008 719945007 en 900000000000550004 This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. 900000000000017005 +3318553017 20170131 1 900000000000207008 719946008 en 900000000000550004 A rare syndrome with characteristics of camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth. Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development. The molecular basis of the syndrome has not yet been elucidated. 900000000000017005 +3318557016 20170131 1 900000000000207008 719949001 en 900000000000550004 This syndrome has characteristics of neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. 900000000000017005 +3318558014 20170131 1 900000000000207008 719947004 en 900000000000550004 A very rare congenital genetic neurological disorder with characteristics of agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders and variable craniofacial and skeletal abnormalities. Most reported families have multiple cases of Temtamy syndrome and almost all affected individuals are from consanguineous unions. The main clinical findings are dysmorphic facies, hypotonia, moderate to severe intellectual disability, intractable seizures and autistic features such as absent language or stereotypy. Motor and cognitive delay usually manifests in early childhood. The pathogenesis of Temtamy syndrome is not known. Various mutations (homozygous, missense, compound heterozygous) in the C12orf57 gene (12p13.31) have been reported in affected patients. Follows an autosomal recessive pattern of inheritance. 900000000000017005 +3318563013 20170131 1 900000000000207008 719950001 en 900000000000550004 A hand-foot malformation with characteristics of triphalangeal thumbs and pre and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. It has been described in some large pedigrees. Clinical presentation is variable within families, ranging from mild to severe. Malformations of the feet are usually less severe than those of the hands. Caused by duplication encompassing the limb-specific regulatory element (ZRS) of sonic hedgehog SHH, which lies in intron 5 of the limb region 1 homolog gene, LMBR1 (7q36). This syndrome is transmitted in an autosomal dominant manner with complete penetrance and variable expression. 900000000000017005 +3318563013 20220630 0 900000000000207008 719950001 en 900000000000550004 A hand-foot malformation with characteristics of triphalangeal thumbs and pre and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. It has been described in some large pedigrees. Clinical presentation is variable within families, ranging from mild to severe. Malformations of the feet are usually less severe than those of the hands. Caused by duplication encompassing the limb-specific regulatory element (ZRS) of sonic hedgehog SHH, which lies in intron 5 of the limb region 1 homolog gene, LMBR1 (7q36). This syndrome is transmitted in an autosomal dominant manner with complete penetrance and variable expression. 900000000000017005 +3318567014 20170131 1 900000000000207008 719951002 en 900000000000550004 This syndrome has characteristics of triphalangeal thumbs and brachydactyly of the hands. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant. 900000000000017005 +3318658017 20170131 1 900000000000207008 719972004 en 900000000000550004 A rare congenital disorder in which congenital central hypoventilation syndrome occurs concurrently with Hirschsprung disease. Intestinal aganglionosis is more extensive, and the gender ratio is 1:1, unlike in classical Hirschsprung disease. Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome. 900000000000017005 +3318662011 20170131 1 900000000000207008 719973009 en 900000000000550004 A rare syndrome with characteristics of palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. The syndrome presents with severe and extensive skin manifestations. Severe, early-onset progressive periodontitis that affects both the deciduous and permanent dentitions and presents with gingival inflammation and alveolar bone destruction is a hallmark of the disease. Onychogryposis, arachnodactyly, acroosteolysis and pes planus are additional features that help to distinguish from other forms of palmoplantar hyperkeratosis. The syndrome is caused by germline mutations in the lysosomal protease cathepsin C (CTSC) gene mapped to chromosome 11q14.1-q14.3. It is transmitted as an autosomal recessive trait. 900000000000017005 +3318666014 20170131 1 900000000000207008 719974003 en 900000000000550004 A form of rare hereditary hemochromatosis, a group of diseases characterized by excessive tissue iron deposition of genetic origin. Type 3 hemochromatosis concerns middle aged-adults but also adolescents and young adults. It presents with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation. The disease is caused by mutations of the transferrin receptor 2 gene (TFR2) on chromosome 7. Transmission is autosomal recessive. 900000000000017005 +3318667017 20170131 1 900000000000207008 719974003 en 900000000000550004 A form of rare hereditary haemochromatosis, a group of diseases characterised by excessive tissue iron deposition of genetic origin. Type 3 haemochromatosis concerns middle aged-adults but also adolescents and young adults. It presents with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation. The disease is caused by mutations of the transferrin receptor 2 gene (TFR2) on chromosome 7. Transmission is autosomal recessive. 900000000000017005 +3318678013 20170131 1 900000000000207008 719975002 en 900000000000550004 A form of rare hereditary hemochromatosis, a group of diseases characterized by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary hemochromatosis. The disease is phenotypically heterogeneous with two sub-types. Ferroportin disease form A is the usual form and is generally asymptomatic with no tissue damage and further complications. Ferroportin disease form B is rarer and resembles hemochromatosis type 1, but can affect children. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant. 900000000000017005 +3318679017 20170131 1 900000000000207008 719975002 en 900000000000550004 A form of rare hereditary haemochromatosis, a group of diseases characterised by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary haemochromatosis. The disease is phenotypically heterogeneous with two sub-types. Ferroportin disease form A is the usual form and is generally asymptomatic with no tissue damage and further complications. Ferroportin disease form B is rarer and resembles haemochromatosis type 1, but can affect children. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant. 900000000000017005 +3318684011 20170131 1 900000000000207008 719976001 en 900000000000550004 This syndrome is characterized by sleep apnea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). 900000000000017005 +3318685012 20170131 1 900000000000207008 719976001 en 900000000000550004 This syndrome is characterised by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). 900000000000017005 +3318696016 20170131 1 900000000000207008 719979008 en 900000000000550004 A form of Charcot-Marie-Tooth disease type 1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood). Usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. 900000000000017005 +3318700012 20170131 1 900000000000207008 719980006 en 900000000000550004 A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. Caused by mutations in the NEFL gene (8p21.2). 900000000000017005 +3318704015 20170131 1 900000000000207008 719981005 en 900000000000550004 An axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. Onset occurs in adulthood (between 26 and 42 years of age) with symmetric moderate to severe weakness of the distal muscles, predominantly affecting the lower extremities. Marked sensory deficits were also reported. Transmitted in an autosomal recessive manner and the disease-causing gene was mapped to chromosome 19q13.3 (MED25). 900000000000017005 +3318718010 20170131 1 900000000000207008 719985001 en 900000000000550004 A limb girdle muscular dystrophy caused by myotilin deficiency with characteristics of limb-girdle weakness in combination with dysarthria. 900000000000017005 +3318724016 20170131 1 900000000000207008 719986000 en 900000000000550004 A limb girdle muscular dystrophy caused by caveolin-3 deficiency with characteristics of weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement. 900000000000017005 +3318727011 20170131 1 900000000000207008 719987009 en 900000000000550004 A limb girdle muscular dystrophy with characteristics of muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria. 900000000000017005 +3318730016 20170131 1 900000000000207008 719988004 en 900000000000550004 A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions. 900000000000017005 +3318733019 20170131 1 900000000000207008 719989007 en 900000000000550004 A form of limb girdle muscular dystrophy with characteristics of muscle weakness affecting the pelvic girdle and especially the iliopsoas muscle. Respiratory impairment may be observed in advanced stages. 900000000000017005 +3318736010 20170131 1 900000000000207008 719990003 en 900000000000550004 A mild form of limb girdle muscular dystrophy that has characteristics of limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation. 900000000000017005 +3318739015 20170131 1 900000000000207008 719991004 en 900000000000550004 Procedural learning is the acquisition of motor skills, habits and types of cognitive skills through repeated performance and practice. 900000000000017005 +3318846019 20170131 1 900000000000207008 719838008 en 900000000000550004 This syndrome has characteristics of axonal sensory and autonomic neuropathy with hearing loss. It has been described in a large five-generation Chinese family. Onset occurred in the second decade of life with mild to severe hearing impairment due to degeneration of the auditory nerve, followed by late-onset of a diffuse and progressive peripheral sensory neuropathy. The causative gene was mapped to the AUNX1 locus on chromosome Xq23-27.3. Transmission was X-linked recessive. 900000000000017005 +3318850014 20170131 1 900000000000207008 720009004 en 900000000000550004 This syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. 900000000000017005 +3318851013 20170131 1 900000000000207008 720009004 en 900000000000550004 This syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously. 900000000000017005 +3318855016 20170131 1 900000000000207008 720010009 en 900000000000550004 Syndrome with characteristics of congenital microphthalmia and blindness, progressive spasticity, microcephaly, seizures and profound intellectual deficit. It has been reported in three children from three unrelated families. While imaging at birth is normal, follow-up studies show progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem, and corpus callosum. The white matter changes extend into the subcortical region, leaving only small islands of remaining cortical tissue. 900000000000017005 +3318941013 20170131 1 900000000000207008 78104003 en 900000000000550004 Backward flow of refluxed gastric content into the mouth or hypopharynx. 900000000000017005 +3320415012 20170131 1 900000000000207008 720749004 en 900000000000550004 A degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. 900000000000017005 +3320617012 20170131 1 900000000000207008 719452004 en 900000000000550004 A rare developmental defect with characteristics of an anomalous connection of bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. 900000000000017005 +3320620016 20170131 1 900000000000207008 720394008 en 900000000000550004 A rare developmental defect with characteristics of an anomalous connection of trachea with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. 900000000000017005 +3320653014 20170131 1 900000000000207008 720407008 en 900000000000550004 The patient's mother is a victim of domestic violence. 900000000000017005 +3320658017 20170131 1 900000000000207008 720408003 en 900000000000550004 A very rare congenital malformation syndrome with the association of facial and skeletal anomalies, severe intellectual deficit and occasional genitourinary anomalies. The cranio-facial malformations are numerous and variable and include brachycephaly or microbrachycephaly. Other skeletal malformations are also present, with syndactyly of fingers, hypoplastic toes, anomalies of feet structure and fibular hypoplasia. Short stature may be observed. Eye anomalies include bilateral ptosis, cataract and congenital glaucoma. In some male patients, hypospadias and bifid scrotum are reported. Patients suffer from potentially severe intellectual deficit and present with anomalies of the cortical gyration. 900000000000017005 +3320666014 20170131 1 900000000000207008 720410001 en 900000000000550004 A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait. 900000000000017005 +3320667017 20170131 1 900000000000207008 720410001 en 900000000000550004 A very rare disorder associating pseudopapilloedema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait. 900000000000017005 +3320674010 20170131 1 900000000000207008 720412009 en 900000000000550004 Syndrome with characteristics of a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36. 900000000000017005 +3320678013 20170131 1 900000000000207008 720413004 en 900000000000550004 A very rare association of a Poland anomaly with characteristics of unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles. 900000000000017005 +3320683017 20170131 1 900000000000207008 720414005 en 900000000000550004 A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. 900000000000017005 +3320687016 20170131 1 900000000000207008 720415006 en 900000000000550004 A syndrome of multiple congenital anomalies with characteristics of radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula) and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis and Duane anomaly).The phenotype overlaps with related disorders including Okihiro syndrome and Holt-Oram syndrome. Transmission is autosomal dominant. 900000000000017005 +3320690010 20170131 1 900000000000207008 720416007 en 900000000000550004 A skeletal dysplasia with clinical characteristics of short stature of variable degrees with short limbs, brachydactyly and narrow thorax. Affected patients have normal intelligence. Radiographically, cone-shaped epiphyses are observed in the hands, the proximal part of the femur and to a variable degree, at the shoulders, knees, and ankles. Homozygous mutations in the Indian hedgehog homolog gene (IHH; 2q33-q35), outside the region where brachydactyly type A-1 mutations are clustered, have been identified in affected patients. The condition is transmitted as an autosomal recessive trait. 900000000000017005 +3320695017 20170131 1 900000000000207008 720417003 en 900000000000550004 An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism, excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. 900000000000017005 +3320696016 20170131 1 900000000000207008 720417003 en 900000000000550004 An extremely rare lethal autosomal recessive disorder characterised by massive birth weight, swollen globular body, generalised oedema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism, excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. 900000000000017005 +3320700012 20170131 1 900000000000207008 720418008 en 900000000000550004 A very rare form of acrofacial dysostosis, reported in two sisters to date, with characteristics of short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. 900000000000017005 +3320704015 20170131 1 900000000000207008 720419000 en 900000000000550004 A very rare type of acrofacialdysostosis with characteristics of mild intrauterine growth retardation, postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males. 900000000000017005 +3320725015 20170131 1 900000000000207008 720427009 en 900000000000550004 Reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. 900000000000017005 +3320730016 20170131 1 900000000000207008 720429007 en 900000000000550004 A very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia. The syndrome has characteristics of normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals and unilateral cleft lip. 900000000000017005 +3320733019 20170131 1 900000000000207008 720430002 en 900000000000550004 A multiple malformation syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the central nervous system, urogenital tract, heart, and lungs. The mandibulofacial defect causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth. 900000000000017005 +3320799018 20170131 1 900000000000207008 720448006 en 900000000000550004 Typical atrial flutter is an organised atrial tachycardia. It originates in a circuit around the tricuspid annulus limited by anatomical barriers such as the superior and inferior cava veins, the coronary sinus and crista terminalis. The wave front may rotate around this circuit counterclockwise or clockwise. 900000000000017005 +3320800019 20170131 1 900000000000207008 720448006 en 900000000000550004 Typical atrial flutter is an organized atrial tachycardia. It originates in a circuit around the tricuspid annulus limited by anatomical barriers such as the superior and inferior cava veins, the coronary sinus and crista terminalis. The wave front may rotate around this circuit counterclockwise or clockwise. 900000000000017005 +3320824010 20170131 1 900000000000207008 720456009 en 900000000000550004 A multiple congenital anomalies/dysmorphic syndrome with characteristics of a progressively coarse acromegaloid-like facial appearance, thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. The syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome. 900000000000017005 +3320824010 20220630 0 900000000000207008 720456009 en 900000000000550004 A multiple congenital anomalies/dysmorphic syndrome with characteristics of a progressively coarse acromegaloid-like facial appearance, thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. The syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome. 900000000000017005 +3320828013 20170131 1 900000000000207008 720457000 en 900000000000550004 A skeletal dysplasia with characteristics of fusion of the carpal and tarsal bones and complex anomalies of the fingers and toes. It has been described in less than 30 patients from three unrelated families. Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit. This syndrome is transmitted as an autosomal dominant trait with full penetrance. The causative gene has been mapped to chromosome region 2q36. 900000000000017005 +3320831014 20170131 1 900000000000207008 720458005 en 900000000000550004 Acrorenal syndrome comprises a wide spectrum of congenital malformation disorders with characteristics of the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (for example unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract, abdominal well defects, intestinal atresia and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. 900000000000017005 +3320909019 20170131 1 900000000000207008 720459002 en 900000000000550004 Adrenocorticotropic hormone independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome with characteristics of nodular enlargement of both adrenal glands that produce excess cortisol. The disease presents a bimodal age distribution with a rare subset presenting in the first years of life, particularly associated to McCune-Albright syndrome. Most patients present in their fifth or sixth decade. The adrenal glands can be massively enlarged bilaterally with the presence of numerous macronodules; however diffuse adrenal enlargement without nodules has been described. AIMAH is most often reported as sporadic but there are increasing reports of familial cases with autosomal dominant transmission. 900000000000017005 +3320912016 20170131 1 900000000000207008 720460007 en 900000000000550004 The acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber and heavy pigment deposition in the anterior chamber angle of the eye. Patients typically present with acute and usually severe photophobia, blurred vision, red eye and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. 900000000000017005 +3320915019 20170131 1 900000000000207008 720461006 en 900000000000550004 A very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, with clinical characteristics of transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia. 900000000000017005 +3320916018 20170131 1 900000000000207008 720461006 en 900000000000550004 A very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, with clinical characteristics of transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinaemia, and lactic acidaemia. 900000000000017005 +3320921015 20170131 1 900000000000207008 720463009 en 900000000000550004 A type of arthrogryposis with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. 900000000000017005 +3320922010 20170131 1 900000000000207008 720463009 en 900000000000550004 A type of arthrogryposis with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalised muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleroedema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. 900000000000017005 +3320926013 20170131 1 900000000000207008 720464003 en 900000000000550004 The ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome has characteristics of ectrodactyly, excessive freckling, onychodysplasia, obstruction of lacrimal ducts and hypodontia and/or early loss of permanent teeth. Variable clinical expression is observed. Fourteen cases have been described so far. Transmission is autosomal dominant. 900000000000017005 +3320932015 20170131 1 900000000000207008 720465002 en 900000000000550004 A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes. 900000000000017005 +3320933013 20170131 1 900000000000207008 720465002 en 900000000000550004 A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anaemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anaemia with liver iron overload and type 2 diabetes. 900000000000017005 +3320938016 20170131 1 900000000000207008 720466001 en 900000000000550004 A rare neurodegenerative disease usually presenting before the age of 30 with characteristics of dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. Prevalence is unknown. Only 14 cases have been reported to date. Caused by mutations in the phospholipase A2, group VI (PLA2G6) gene located on chromosome 22q13.1. Inherited in an autosomal recessive manner. 900000000000017005 +3320941013 20170131 1 900000000000207008 720467005 en 900000000000550004 A syndrome described in three members of a family (a boy, his father and his paternal grandmother) with the association of aniridia and patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. 900000000000017005 +3320944017 20170131 1 900000000000207008 720468000 en 900000000000550004 An extremely rare autosomal dominant developmental defect of the eye described in several members of one family with characteristics of the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. 900000000000017005 +3320990013 20170131 1 900000000000012004 719367001 en 900000000000550004 Instituto Nacional de Servicios Sociales para Jubilados y Pensionados (INSSJP) de Argentina 900000000000017005 +3320990013 20170731 0 900000000000012004 719367001 en 900000000000550004 Instituto Nacional de Servicios Sociales para Jubilados y Pensionados (INSSJP) de Argentina 900000000000017005 +3320994016 20170131 1 900000000000012004 720486002 en 900000000000550004 Mednxt Medical Eservices pvt ltd 900000000000017005 +3320994016 20170731 0 900000000000012004 720486002 en 900000000000550004 Mednxt Medical Eservices pvt ltd 900000000000017005 +3321011017 20170131 1 900000000000207008 720492008 en 900000000000550004 The association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms. It has been described in at least eight patients, in four sibships spanning two generations of a Greek-Cypriot family. Six other members of the family presented with palmoplantar hyperkeratosis alone. This syndrome is likely to be transmitted as an autosomal dominant trait. It is distinct from diffuse idiopathic skeletal hyperostosis (DISH), which is not a rare disease. 900000000000017005 +3321014013 20170131 1 900000000000207008 720493003 en 900000000000550004 A rare variant of cutaneous lichen planus with characteristics of both annular and atrophic lichen planus features in the same lesion. Fewer than ten cases have been reported in the literature. Small violaceous papules develop on the trunk and extremities with an atrophic centre and a raised hyperpigmented border. Patients are generally middle-aged and have no past history of cutaneous lesions. Histopathologically, the peripheral border has the typical features of lichen planus, while the centre of the lesion shows loss of rete ridges. There is loss of elastic fibres within the papillary dermis, both centrally and peripherally. 900000000000017005 +3321018011 20170131 1 900000000000207008 720494009 en 900000000000550004 A multiple congenital anomaly disorder with characteristics of anonychia congenita totalis and microcephaly, with normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and spaced teeth. Inheritance is likely to be autosomal recessive. 900000000000017005 +3321022018 20170131 1 900000000000207008 720495005 en 900000000000550004 A multiple congenital anomalies syndrome reported in the offsprings of a consanguineous couple with characteristics of multiple congenital skeletal, muscular, ocular and cardiac abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. 900000000000017005 +3321026015 20170131 1 900000000000207008 720496006 en 900000000000550004 A very rare multiple congenital anomaly syndrome with characteristics of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. 900000000000017005 +3321030017 20170131 1 900000000000207008 720497002 en 900000000000550004 An increase in anti-human leukocyte antigen (anti-HLA) mostly seen in chronic renal failure patients that have undergone hemodialysis and polytransfusion. Other factors leading to anti-HLA hyperimmunization are renal transplantation and pregnancy. Anti-HLA hyperimmunization is a major factor in acute graft rejection. It can be limited by administrating erythropoietin for the treatment of chronic renal failure related anemia, which reduces the number of transfusions required. 900000000000017005 +3321031018 20170131 1 900000000000207008 720497002 en 900000000000550004 An increase in anti-human leukocyte antigen (anti-HLA) mostly seen in chronic renal failure patients that have undergone haemodialysis and polytransfusion. Other factors leading to anti-HLA hyperimmunisation are renal transplantation and pregnancy. Anti-HLA hyperimmunisation is a major factor in acute graft rejection. It can be limited by administrating erythropoietin for the treatment of chronic renal failure related anaemia, which reduces the number of transfusions required. 900000000000017005 +3321034014 20170131 1 900000000000207008 720498007 en 900000000000550004 An extremely rare malformation syndrome with characteristics of the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. 900000000000017005 +3321038012 20170131 1 900000000000207008 720499004 en 900000000000550004 This syndrome has characteristics of the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. 900000000000017005 +3321042010 20170131 1 900000000000207008 720500008 en 900000000000550004 An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. 900000000000017005 +3321043017 20170131 1 900000000000207008 720500008 en 900000000000550004 An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. 900000000000017005 +3321047016 20170131 1 900000000000207008 720501007 en 900000000000550004 A multiple congenital developmental anomalies syndrome with characteristics of arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. 900000000000017005 +3321052014 20170131 1 900000000000207008 720502000 en 900000000000550004 This syndrome has characteristics of moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes and hypoplastic external genitalia. It has been described in three patients. 900000000000017005 +3321069011 20170131 1 900000000000207008 720506002 en 900000000000550004 Syndrome with characteristics of moderate to profound hearing loss in both ears and severe nearsightedness (high myopia). The hearing loss may be described as sensorineural or it may be caused by auditory neuropathy. The hearing loss is either present at birth or begins in infancy, before the child learns to speak. This syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. SLITRK6 gene mutations result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane meaning the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth. 900000000000017005 +3321074015 20170131 1 900000000000207008 720507006 en 900000000000550004 Syndrome with characteristics of sick sinus syndrome and intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20. The syndrome is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex cohesin. This protein complex helps control the placement of chromosomes during cell division. Research suggests that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause senescence of cells in the intestinal muscle and in the sinoatrial node, resulting in problems maintaining proper rhythmic movements of the heart and intestines. 900000000000017005 +3321083013 20170131 1 900000000000207008 720511000 en 900000000000550004 A malformation disorder with characteristics of complete or incomplete absence of nose, choanal atresia, microphthalmia, anophthalmia and cleft or high palate. 900000000000017005 +3321087014 20170131 1 900000000000207008 720512007 en 900000000000550004 A rare association syndrome, reported in several members of two families to date with characteristics of arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved, in association with cystic medial necrosis and multiple lentigines. 900000000000017005 +3321091016 20170131 1 900000000000207008 720513002 en 900000000000550004 A multisystem disorder with characteristics of neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Mutations in the VPS33B gene (15q26.1) have been found in 75% of ARC families, as well as mutations in the VIPAR gene (C14ORF133), encoding a protein that complexes with VPS33B. Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay. 900000000000017005 +3321095013 20170131 1 900000000000207008 720514008 en 900000000000550004 An extremely rare type of arthrogryposis multiplex congenita with the combination of multiple joint contractures with movement limitation and microstomia with a whistling appearance of the mouth that may cause feeding, swallowing and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction, occasionally Pierre-Robin sequence and lethality generally occurring during the first months of life. 900000000000017005 +3321099019 20170131 1 900000000000207008 720515009 en 900000000000550004 This syndrome has characteristics of an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. 900000000000017005 +3321107013 20170131 1 900000000000207008 720517001 en 900000000000550004 This syndrome has characteristics of progressive ataxia beginning during childhood, deafness and intellectual deficit. It has been described in two families. The clinical picture is similar to that seen in Richards-Rundle syndrome. 900000000000017005 +3321112014 20170131 1 900000000000207008 720518006 en 900000000000550004 Syndrome with characteristics of deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. 900000000000017005 +3321116012 20170131 1 900000000000207008 720519003 en 900000000000550004 This syndrome has characteristics of sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed. 900000000000017005 +3321120011 20170131 1 900000000000207008 720520009 en 900000000000550004 A very rare and atypical form of Chédiak-Higashi syndrome, a genetic disorder with characteristics of partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Missense mutations in the LYST lysosomal gene (1q42.1-q42.2) appear to cause this form of Chédiak-Higashi syndrome. Inherited in an autosomal recessive manner. 900000000000017005 +3321123013 20170131 1 900000000000207008 720521008 en 900000000000550004 This syndrome has characteristics of congenital thrombocytopenia associated with the presence of large platelets. To date less than 10 cases are reported. The syndrome is caused by mutations in the integrin, beta 3 ITGB3, tubulin, beta-1TUBB1 and actinin, alpha1 ACTN1 genes. These mutations lead to abnormal proplatelets and thrombocytopenia. Transmission is autosomal dominant. 900000000000017005 +3321127014 20170131 1 900000000000207008 720522001 en 900000000000550004 A mild form of limb-girdle muscular dystrophy with characteristics of muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy and lack of respiratory and cardiac involvement. 900000000000017005 +3321131015 20170131 1 900000000000207008 720523006 en 900000000000550004 Limb-girdle muscular dystrophy type 2K has characteristics of onset of muscle wasting during childhood, associated with intellectual deficit. Moderate muscular hypertrophy and microcephaly are also present. So far, the syndrome has been described in ten boys, the majority of whom came from consanguineous Turkish families. The disease is caused by mutations in the POMT1 gene (chromosome 9) encoding O-mannosyltransferase 1, an enzyme involved in protein glycosylation. 900000000000017005 +3321260016 20170131 1 900000000000207008 720565000 en 900000000000550004 Syndrome with characteristics of intrauterine growth retardation, failure to thrive, facial dysmorphism, flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported. 900000000000017005 +3321263019 20170131 1 900000000000207008 720566004 en 900000000000550004 A form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet. It is though to be inherited as an autosomal recessive condition. Dominant pattern of inheritance has been recently suggested. 900000000000017005 +3321264013 20170131 1 900000000000207008 720566004 en 900000000000550004 A form of generalised enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterised by severe platyspondyly, and mild involvement of hands and feet. It is though to be inherited as an autosomal recessive condition. Dominant pattern of inheritance has been recently suggested. 900000000000017005 +3321267018 20170131 1 900000000000207008 720567008 en 900000000000550004 Syndrome with characteristics of variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies, cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome, however unlike Athabaskan brain dysfunction syndrome it does not manifest central hypoventilation. 900000000000017005 +3321273017 20170131 1 900000000000207008 720568003 en 900000000000550004 A rare genetic brachydactyly syndrome with the association of brachydactyly type E and hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and if untreated, most patients will have had a stroke by the age of 50. 900000000000017005 +3321277016 20170131 1 900000000000207008 720569006 en 900000000000550004 A congenital malformation with characteristics of shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and sometimes of the little finger. Only a few cases have been reported in the literature. Affected individuals have a triangular shaped middle phalanx of the index fingers and in severely affected cases the index finger is curved radially. Can be caused by mutations in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11. 900000000000017005 +3321280015 20170131 1 900000000000207008 720570007 en 900000000000550004 A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families. 900000000000017005 +3321284012 20170131 1 900000000000207008 720571006 en 900000000000550004 A form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. It has been reported in one family. 900000000000017005 +3321287017 20170131 1 900000000000207008 720572004 en 900000000000550004 A recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the second and fifth fingers and absence of middle phalanges of the second to fifth toes) and a syndactyly of the second and third toes. Metacarpals and metatarsals anomalies are common. This syndrome has been described in two families. It is caused by HOXD13 mutations in 2q31-q32. Inherited as an autosomal dominant trait. 900000000000017005 +3321292015 20170131 1 900000000000207008 720573009 en 900000000000550004 A very rare malformation syndrome with characteristics of short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. 900000000000017005 +3321295018 20170131 1 900000000000207008 720574003 en 900000000000550004 A developmental anomaly with characteristics of brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). This anomaly has been described in a mother and her son and there have been no further descriptions in the literature since 1986. 900000000000017005 +3321299012 20170131 1 900000000000207008 720575002 en 900000000000550004 A rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, with characteristics of VATER-like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. 900000000000017005 +3321303019 20170131 1 900000000000207008 720576001 en 900000000000550004 An inherited disorder with characteristics of widespread calcifications of the basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. The syndrome has been described in eight children from two interrelated families. The disorder is associated with a genetic locus on chromosome 2 and transmission is autosomal recessive. 900000000000017005 +3321311012 20170131 1 900000000000207008 720579008 en 900000000000550004 Support for transition between a range of environments which may include hospital, educational or community facilities. 900000000000017005 +3321335019 20170131 1 900000000000207008 7361000175106 en 900000000000550004 Respiratory failure causing high level of carbon dioxide in the blood. 900000000000017005 +3321338017 20170131 1 900000000000207008 7431000175109 en 900000000000550004 Circulatory collapse of obscure cause which occurs in surgical patients who are thought to have a normal blood volume but in whom adequate circulation cannot be maintained. 900000000000017005 +3321355018 20170131 1 900000000000207008 721082002 en 900000000000550004 An exceedingly rare autosomal dominant disorder reported in only a few patients to date with characteristics of dacryocystitis due to lacrimal canal stenosis and osteopoikilosis (demonstrated radiologically as discrete spherical osteosclerotic lesions of 2-10 mm in diameter). 900000000000017005 +3321489016 20170131 1 900000000000207008 720598005 en 900000000000550004 This syndrome has characteristics of multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria. It has been observed in approximately 20 individuals. Clinical manifestations include the presence of cranial lumps, numerous pathologic fractures, elevated serum alkaline phosphatase levels, and dental caries. Transmission is autosomal dominant. 900000000000017005 +3321493010 20170131 1 900000000000207008 720599002 en 900000000000550004 The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalized hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth. 900000000000017005 +3321494016 20170131 1 900000000000207008 720599002 en 900000000000550004 The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalised hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth. 900000000000017005 +3321499014 20170131 1 900000000000207008 720600004 en 900000000000550004 An extremely rare chondrodysplastic malformation syndrome with the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils and a mild intellectual disability were also noted. The syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972. 900000000000017005 +3321503015 20170131 1 900000000000207008 720601000 en 900000000000550004 This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. 900000000000017005 +3321506011 20170131 1 900000000000207008 720602007 en 900000000000550004 A rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. To date only eight cases have been reported in the literature. Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed. The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait. 900000000000017005 +3321509016 20170131 1 900000000000207008 720603002 en 900000000000550004 An extremely rare multiple congenital anomaly syndrome with characteristics of distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Described in two sisters there have been no further descriptions in the literature since 1985. 900000000000017005 +3321514017 20170131 1 900000000000207008 720604008 en 900000000000550004 Cap polyposis (CP) is characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and manifest primarily as rectal bleeding with abnormal transit, constipation or diarrhea. To date, around 67 cases have been described in the world literature. The etiology of CP is still unclear but some causes such as lower colonic mucosal prolapse, mucosal ischemia, inflammation, abnormal colonic motility, repeated trauma to the colonic mucosa caused by straining, infection and immune disorders have been proposed. CP is not a premalignant condition. 900000000000017005 +3321515016 20170131 1 900000000000207008 720604008 en 900000000000550004 Cap polyposis (CP) is characterised by multiple inflammatory polyps that predominantly affect the rectosigmoid area and manifest primarily as rectal bleeding with abnormal transit, constipation or diarrhoea. To date, around 67 cases have been described in the world literature. The aetiology of CP is still unclear but some causes such as lower colonic mucosal prolapse, mucosal ischaemia, inflammation, abnormal colonic motility, repeated trauma to the colonic mucosa caused by straining, infection and immune disorders have been proposed. CP is not a premalignant condition. 900000000000017005 +3321519010 20170131 1 900000000000207008 720605009 en 900000000000550004 This syndrome has characteristics of non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. 900000000000017005 +3321525014 20170131 1 900000000000207008 720606005 en 900000000000550004 An extremely rare disorder found in less than ten patients worldwide with characteristics of congenital heart defect, sagittal craniosynostosis and severe developmental delay. Genital and renal anomalies, and various dysmorphic features may be present. Joint and palpebral abnormalities may also occur. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes. 900000000000017005 +3321531012 20170131 1 900000000000207008 720609003 en 900000000000550004 Describes the extremely rare triad of dilated cardiomyopathy, premature cataract and articular disease of the hips and spine with characteristics of hip joint degeneration, irregular intervertebral discs and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. 900000000000017005 +3321534016 20170131 1 900000000000207008 720610008 en 900000000000550004 The association of hypertrophic cardiomyopathy with variable malformations of the urogenital tract. To date, it has been described in two brothers born to nonconsanguineous parents. One of the brothers also had dysgenesis of the corpus callosum. The mode of transmission is unknown but may be X-linked or autosomal recessive. 900000000000017005 +3321534016 20200131 0 900000000000207008 720610008 en 900000000000550004 The association of hypertrophic cardiomyopathy with variable malformations of the urogenital tract. To date, it has been described in two brothers born to nonconsanguineous parents. One of the brothers also had dysgenesis of the corpus callosum. The mode of transmission is unknown but may be X-linked or autosomal recessive. 900000000000017005 +3321542015 20170131 1 900000000000207008 720612000 en 900000000000550004 This syndrome has characteristics of mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance. 900000000000017005 +3321600014 20170131 1 900000000000207008 720632004 en 900000000000550004 Central bilateral macrogyria (rolandic and perisylvian) is a neuronal migration disorder with characteristics of pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children. 900000000000017005 +3321606015 20170131 1 900000000000207008 720633009 en 900000000000550004 A congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. Fewer than 30 cases have been described, the majority of cases occurred in related families. The syndrome affects both the upper and lower limbs but, in general, the latter are less severely affected. Associated malformations (renal hypoplasia and vertebral and hemi-vertebral anomalies) have occasionally been reported. Mild facial dysmorphism has been described in isolated cases. The disease is transmitted as an autosomal recessive trait. Homozygous or compound heterozygous mutations of the LRP4 gene (11p12-p11.2) have been identified. 900000000000017005 +3321610017 20170131 1 900000000000207008 720634003 en 900000000000550004 A rare autosomal dominant neurological disorder with characteristics of early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity and abnormal eye movements. 900000000000017005 +3321614014 20170131 1 900000000000207008 720635002 en 900000000000550004 A rare syndrome with characteristics of facial dysmorphism, intellectual deficit and costovertebral abnormalities. To date, 13 cases have been reported in the literature. Dysmorphic features include brachycephaly, hypertelorism, broad nasal bridge, large philtrum, triangular-shaped mouth and micrognathia. There is often synophrys and a low hairline on the back. Costovertebral abnormalities are always present: short, bifid or fused ribs, bony bridges joining the posterior arches in some ribs, hemi vertebrae. Intellectual deficit is constant but the severity varies and patients also have cerebral abnormalities: cortical atrophy, hypoplasia of the corpus callosum and cerebellar vermis. 900000000000017005 +3321618012 20170131 1 900000000000207008 720636001 en 900000000000550004 A syndrome of multiple congenital malformations with an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension) and obstructive renal disease (ectopic ureteric insertion, obstruction, hydronephrosis). Gastrointestinal tract and cardiac involvement have also been reported. An overlap with Kabuki syndrome is debated. 900000000000017005 +3321622019 20170131 1 900000000000207008 720637005 en 900000000000550004 An axonal peripheral sensorimotor polyneuropathy associated with pyramidal involvement. So far, it has been described in 13 members of a large Tunisian family. Onset occurred during the first decade of life with progressive distal atrophy involving both the upper and lower limbs, associated with a mild pyramidal syndrome (brisk patellar and upper limb reflexes, absent ankle reflexes and unattainable plantar reflexes). Transmitted in an autosomal recessive manner and the disease-causing locus has been mapped to 8q13-21.1. 900000000000017005 +3321626016 20170131 1 900000000000207008 720638000 en 900000000000550004 Belongs to the genetically heterogeneous group of Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy diseases, rare with only five patients reported in the literature so far. The syndrome has characteristics of rapidly progressive, asymmetric motor neuron degeneration with slow nerve conduction velocities, weakness and paralysis, without sensory loss. It is caused by mutations in the FIG4 gene (6q21). This gene encodes the enzyme polyphosphoinositide phosphatase. Transmitted in an autosomal recessive manner. 900000000000017005 +3321634010 20170131 1 900000000000207008 720639008 en 900000000000550004 A rare ectodermal dysplasia syndrome to date described in 8 cases. The syndrome has characteristics of early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual disability and characteristic facial features. Ears are low-set with thick over-folded helices. Teeth are widely spaced and square in shape. Less constant findings are cleft palate or a less severe equivalent, cardiac defects, pectus excavatum and supernumerary nipples. Caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2. Transmission is autosomal recessive. 900000000000017005 +3321868019 20170131 1 900000000000207008 720724003 en 900000000000550004 A card carried in order to alert others in an emergency situation that the card holder has diabetes. 900000000000017005 +3321940017 20170131 1 900000000000207008 720744009 en 900000000000550004 An oxygen delivery cannula with a rectangular reservoir pouch that rests between the patient's nose and upper lip. 900000000000017005 +3321943015 20170131 1 900000000000207008 720742008 en 900000000000550004 An oxygen delivery cannula with a reservoir pouch that stores oxygen during exhalation and then delivers it as a bolus during inspiration. 900000000000017005 +3321968018 20170131 1 900000000000207008 720749004 en 900000000000550004 A degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal oedema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. 900000000000017005 +3321970010 20170131 1 900000000000207008 720640005 en 900000000000550004 An extremely rare multiple congenital anomaly syndrome with characteristics of bilateral choanal atresia associated with cranio-facial dysmorphism, that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlap considerably with those of the CHARGE syndrome. 900000000000017005 +3321974018 20170131 1 900000000000207008 720746006 en 900000000000550004 An ectodermal dysplasia syndrome with characteristics of severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. 900000000000017005 +3321977013 20170131 1 900000000000207008 720747002 en 900000000000550004 A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1. 900000000000017005 +3321978015 20170131 1 900000000000207008 720747002 en 900000000000550004 A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalisation of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1. 900000000000017005 +3321982018 20170131 1 900000000000207008 720748007 en 900000000000550004 A multiple malformation syndrome with characteristics of atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot and intellectual deficit. It has been described only once, in two sisters. 900000000000017005 +3321993016 20170131 1 900000000000207008 720750004 en 900000000000550004 Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy. 900000000000017005 +3321996012 20170131 1 900000000000207008 720751000 en 900000000000550004 A well-defined entity within the group of auto inflammatory disorders, it is a rare disease with 49 cases documented so far. It affects mainly young adults and is characterized by recurrent attacks of fever and deep abscess-like collections, most frequently localized in the abdomen. Aseptic abscesses may be either isolated or associated with an underlying condition such as relapsing polychondritis or inflammatory bowel disease. Antibiotics fail to cure the patients but dramatic improvements are seen with corticosteroids and immunosuppressive drugs. 900000000000017005 +3321997015 20170131 1 900000000000207008 720751000 en 900000000000550004 A well-defined entity within the group of auto inflammatory disorders, it is a rare disease with 49 cases documented so far. It affects mainly young adults and is characterised by recurrent attacks of fever and deep abscess-like collections, most frequently localised in the abdomen. Aseptic abscesses may be either isolated or associated with an underlying condition such as relapsing polychondritis or inflammatory bowel disease. Antibiotics fail to cure the patients but dramatic improvements are seen with corticosteroids and immunosuppressive drugs. 900000000000017005 +3322003013 20170131 1 900000000000207008 720752007 en 900000000000550004 A very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Less than 50 patients have been reported worldwide. The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies. Craniofacial anomalies have been reported occasionally. Inherited in an autosomal dominant manner and is caused by mutations in the human TBX4 gene (chromosome 17q22). TBX4 mutations account for familial cases with a distinctive facial appearance and those without facial features. 900000000000017005 +3322010019 20170131 1 900000000000207008 720753002 en 900000000000550004 A form of primary hypertrophic osteoarthropathy with characteristics of delayed closure of the cranial sutures and fontanelles, digital clubbing, arthropathy, and periostosis. To date, about 30 cases have been reported. May also be associated with congenital heart disease. It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait. 900000000000017005 +3322013017 20170131 1 900000000000207008 720754008 en 900000000000550004 This syndrome has characteristics of craniofacial dysplasia, cone-shaped physes of the hands and feet and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. 900000000000017005 +3322016013 20170131 1 900000000000207008 720755009 en 900000000000550004 A rare cranial malformation syndrome with characteristics of premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour and dysmorphic facial features. Short stature, developmental delay, epilepsy and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus. 900000000000017005 +3322020012 20170131 1 900000000000207008 720756005 en 900000000000550004 A rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes. The syndrome has characteristics of a spectrum of developmental anomalies that include distinctive facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. 900000000000017005 +3322024015 20170131 1 900000000000207008 720757001 en 900000000000550004 A poly-malformation syndrome with characteristics of craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia and genital and breast anomalies. Less than ten cases have been described so far. 900000000000017005 +3322149018 20170131 1 900000000000207008 720812002 en 900000000000550004 A very rare condition with characteristics of craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, anal anomalies, genitourinary malformations and skin eruptions. It has been described in seven patients from four unrelated families. Cranial abnormalities include a coronal synostosis with wide-open anterior and posterior fontanelles and large parietal foramina. In some patients the skin eruption has been classified as porokeratosis. Sensorineural hearing loss and mild to severe developmental delay are common. The condition is transmitted as an autosomal recessive trait. 900000000000017005 +3322153016 20170131 1 900000000000207008 720813007 en 900000000000550004 A malformation disorder with characteristics of sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. 900000000000017005 +3322157015 20170131 1 900000000000207008 720814001 en 900000000000550004 This syndrome has a variable clinical picture of premature coronal suture synostosis with a mild midfacial hypoplasia and hypertelorism, downslanting external palpebral fissures, beaking of the nose and brachydactyly (involving only fingers, not metacarpals). It has been reported in only one family with five affected individuals in three generations. Prenatal diagnosis of abnormal head shape was done at a routine ultrasound examination for one of the grandchildren, at 28 weeks of pregnancy. The pedigree suggests an autosomal dominantly inherited condition, but no gene could be identified for this syndrome, considered as a distinct craniosynostosis entity. 900000000000017005 +3322163012 20170131 1 900000000000207008 720815000 en 900000000000550004 Syndrome with characteristics of sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. The syndrome was described in two brothers from a non-consanguineous family. No causative mutation has been identified so far. 900000000000017005 +3322167013 20170131 1 900000000000207008 720816004 en 900000000000550004 A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. 900000000000017005 +3322168015 20170131 1 900000000000207008 720816004 en 900000000000550004 A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favourable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. 900000000000017005 +3322173014 20170131 1 900000000000207008 720817008 en 900000000000550004 A form of syndromic craniosynostosis with characteristics of highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies has also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. 900000000000017005 +3322176018 20170131 1 900000000000207008 720818003 en 900000000000550004 A form of syndromic craniosynostosis with characteristics of sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. 900000000000017005 +3322180011 20170131 1 900000000000207008 720819006 en 900000000000550004 A form of syndromic craniosynostosis with characteristics of unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin, eyes and intestine. Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningocele and development of desmoplastic medulloblastoma have been reported. 900000000000017005 +3322183013 20170131 1 900000000000207008 720820000 en 900000000000550004 A rare inflammatory bowel disease with characteristics of early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis that leads to untreatable diarrhea. There have been no further descriptions in the literature since 1991. 900000000000017005 +3322184019 20170131 1 900000000000207008 720820000 en 900000000000550004 A rare inflammatory bowel disease with characteristics of early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis that leads to untreatable diarrhoea. There have been no further descriptions in the literature since 1991. 900000000000017005 +3322194012 20170131 1 900000000000207008 720401009 en 900000000000550004 A rare genetic disease reported in two siblings of consanguineous Arab parents with characteristics of cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. 900000000000017005 +3322195013 20170131 1 900000000000207008 720401009 en 900000000000550004 A rare genetic disease reported in two siblings of consanguineous Arab parents with characteristics of cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anaemia, and intellectual disability. There have been no further descriptions in the literature since 1991. 900000000000017005 +3322198010 20170131 1 900000000000207008 720825005 en 900000000000550004 This syndrome has characteristics of non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. 900000000000017005 +3322201017 20170131 1 900000000000207008 720826006 en 900000000000550004 A form of skeletal dysplasia with characteristics of severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes. So far, less than 20 patients have been reported, including multiple members of five families from the Czech Republic. Stature and intelligence are normal. Radiographs reveal platyspondyly, irregular vertebral endplates, deformed femoral heads, pelvic dysplasia and narrowed intervertebral spaces. Mutations in the COL2A1 gene have been detected in several of the reported patients. Transmission is autosomal dominant. 900000000000017005 +3322207018 20170131 1 900000000000207008 720827002 en 900000000000550004 Syndrome caused by impairment of mitochondria. Whilst mitochondrial disorders may be caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. Symptoms begin in early life and affected individuals usually do not live past infancy. Symptoms include encephalopathy, hypotonia, seizures and psychomotor delay. Most affected babies have lactic acidosis that can be life threatening. 900000000000017005 +3322215015 20170131 1 900000000000207008 720830009 en 900000000000550004 A severe form of neuronal ceroid lipofuscinosis with onset at birth and characteristics of primary microcephaly, neonatal epilepsy and death in early infancy. It is a rare form of neuronal ceroid lipofuscinosis with only around 10 cases reported in the literature so far. Patients present with postnatal respiratory insufficiency, seizures immediately after birth and a lower than normal head circumference. Transmitted in an autosomal recessive manner and is caused by mutations in the CTSD gene (designated CLN10; 11p15.5) encoding the lysosomal enzyme cathepsin D. 900000000000017005 +3322280018 20170131 1 900000000000207008 720850008 en 900000000000550004 A very rare ectodermal dysplasia syndrome with the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. 900000000000017005 +3322287015 20170131 1 900000000000207008 720851007 en 900000000000550004 An extremely rare disorder of sex development, reported in only two siblings to date. The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. 900000000000017005 +3322288013 20170131 1 900000000000207008 720851007 en 900000000000550004 An extremely rare disorder of sex development, reported in only two siblings to date. The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalised chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. 900000000000017005 +3322289017 20170131 1 900000000000207008 720852000 en 900000000000550004 A rare syndrome with the association of congenital hypertrichosis in the anterior cervical region, peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993. 900000000000017005 +3322295016 20170131 1 900000000000207008 720853005 en 900000000000550004 A rare form of combined immunodeficiency with characteristics of microcephaly, growth retardation and T and B cell lymphopenia. Patients present in childhood with growth retardation, microcephaly, urogenital and bone malformations, dysmorphic features, including ''bird-like'' facial dysmorphism, and features of combined immunodeficiency. Some patients may also present with autoimmune cytopenia. This disease is caused by mutations in the NHEJ1 (or Cernunos) gene (2q35). The resulting defect of Cernunnos/XLF, a core protein of the non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive. 900000000000017005 +3322295016 20210930 0 900000000000207008 720853005 en 900000000000550004 A rare form of combined immunodeficiency with characteristics of microcephaly, growth retardation and T and B cell lymphopenia. Patients present in childhood with growth retardation, microcephaly, urogenital and bone malformations, dysmorphic features, including ''bird-like'' facial dysmorphism, and features of combined immunodeficiency. Some patients may also present with autoimmune cytopenia. This disease is caused by mutations in the NHEJ1 (or Cernunos) gene (2q35). The resulting defect of Cernunnos/XLF, a core protein of the non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive. 900000000000017005 +3322300019 20170131 1 900000000000207008 720854004 en 900000000000550004 A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy characterized by strokes, vision loss, migraines, pseudotumors, dementia and occasionally renal disease. 900000000000017005 +3322301015 20170131 1 900000000000207008 720854004 en 900000000000550004 A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leucodystrophy characterised by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease. 900000000000017005 +3322305012 20170131 1 900000000000207008 720855003 en 900000000000550004 A multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. Additional features include brachycephaly and other facial anomalies. Non-facial anomalies have also been reported: postaxial polydactyly, genital hypoplasia. All cases reported so far have been sporadic, suggesting that the syndrome may be due to a new dominant mutation. 900000000000017005 +3322310011 20170131 1 900000000000207008 720856002 en 900000000000550004 Syndrome with the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. Appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). 900000000000017005 +3322313013 20170131 1 900000000000207008 720857006 en 900000000000550004 A newly described variant of Ehlers-Danlos syndrome (EDS). Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia, which has characteristics of focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurysmal dilatation of the sinus of Valsalva. Caused by mutations in the filamin A gene (FLNA) located at locus Xq28 on the long arm of chromosome X. This suggests a novel cause of EDS. The disease is transmitted as an X-linked dominant trait. 900000000000017005 +3322316017 20170131 1 900000000000207008 720858001 en 900000000000550004 A form of Ehlers-Danlos syndrome (EDS) with characteristics of joint hypermobility, skin hyperextensibility and cardiac valvular defects. 900000000000017005 +3322321019 20170131 1 900000000000207008 720859009 en 900000000000550004 A form of Ehlers-Danlos syndrome (EDS) with characteristics of severe kyphoscoliosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion. 900000000000017005 +3322327015 20170131 1 900000000000207008 720860004 en 900000000000550004 A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations. 900000000000017005 +3322328013 20170131 1 900000000000207008 720860004 en 900000000000550004 A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, haemorrhagic diathesis and multisystem fragility-related manifestations. 900000000000017005 +3322335017 20170131 1 900000000000207008 720861000 en 900000000000550004 A form of Ehlers-Danlos syndrome (EDS) with characteristics of premature ageing with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia and defective wound healing with atrophic scars. 900000000000017005 +3322338015 20170131 1 900000000000207008 720862007 en 900000000000550004 A form of Ehlers-Danlos syndrome (EDS), with characteristic of spontaneous dissection of medium-sized arteries during young adulthood including mainly the iliac, femoral and renal arteries. 900000000000017005 +3322341012 20170131 1 900000000000207008 720863002 en 900000000000550004 A rare familial skeletal dysplasia with characteristics of multiple epiphyseal dysplasia with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. A mutation in PTHR1 gene is responsible for this syndrome. Transmission is autosomal recessive. 900000000000017005 +3322345015 20170131 1 900000000000207008 720864008 en 900000000000550004 A lysosomal storage disease belonging to the group of sphingolipidoses. It is very rare with less than 10 cases reported in the literature so far. Clinically, it is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course. The neurological signs and symptoms include hypotonia, massive myoclonic bursts, abnormal ocular movements and dystonia. Grand mal seizures and seizures triggered by tactile stimuli have been described. Patients also develop hepatosplenomegaly. Death usually occurs from respiratory failure following repeated pulmonary infections. The disease is caused by mutations in the PSAP gene (10q21) leading to absence or non-functionality of the prosaposin protein. The mode of inheritance is autosomal recessive. 900000000000017005 +3322578011 20170131 1 900000000000207008 720940008 en 900000000000550004 A disorder that affects the ability to break down lipids leading to increased amounts of triglycerides and cholesterol in the blood. Caused by mutations in the lipase C hepatic type (LIPC) gene. This gene provides instructions for making hepatic lipase. LIPC gene mutations prevent the release of hepatic lipase from the liver or decrease the enzyme's activity in the bloodstream. As a result very low-density lipoproteins and intermediate-density lipoproteins are not efficiently converted into LDLs, and HDLs carrying cholesterol and triglyceride remain in the bloodstream. It is unclear what effect this change in lipid levels has on people with hepatic lipase deficiency. 900000000000017005 +3322613018 20170131 1 900000000000207008 720950009 en 900000000000550004 A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34). 900000000000017005 +3322614012 20170131 1 900000000000207008 720950009 en 900000000000550004 A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and haemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34). 900000000000017005 +3322618010 20170131 1 900000000000207008 720951008 en 900000000000550004 An extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. 900000000000017005 +3322623010 20170131 1 900000000000207008 720952001 en 900000000000550004 This syndrome has characteristics of fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females. 900000000000017005 +3322627011 20170131 1 900000000000207008 720953006 en 900000000000550004 Fibular dimelia accompanied by complete tibial agenesis and mirror polydactyly or foot duplication is a rare developmental anomaly reported in at least 11 cases. It can be isolated or associated with ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. The cause is unknown, but has been suggested that a teratogenic event occurs as developmental specification reaches the level of the future knee. A central role for the mesenchymal precursor, from which chondro-osseous morphology emerges, has also been suggested. Treatment is surgical and prosthesis is needed in order to improve the quality of life of affected children. 900000000000017005 +3322632012 20170131 1 900000000000207008 720954000 en 900000000000550004 Filippi syndrome has manifestations of microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly and teeth and hair anomalies may also be present. Transmission is autosomal recessive. 900000000000017005 +3322636010 20170131 1 900000000000207008 720955004 en 900000000000550004 Syndrome with characteristics of psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. Less than 10 patients have been described in the literature so far. Although the majority of reported cases were sporadic, the syndrome has been reported in one pair of siblings (a brother and sister) with an apparently autosomal recessive inheritance pattern. 900000000000017005 +3322641019 20170131 1 900000000000207008 720956003 en 900000000000550004 Acortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, with characteristics of severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved. Less than 150 cases have been described in the literature so far. Can occur at any age. Patients have severe speech disturbances and most are mute.Chewing and swallowing are severely impaired. Caused by developmental or acquired bilateral lesions of the anterior opercula. In children, it presents congenitally (bilateral opercular polymicrogyria) or as an acquired disorder due to encephalitis, epilepsy and neurodegenerative disorders. The syndrome is generally sporadic but some familial cases have been described. 900000000000017005 +3322646012 20170131 1 900000000000207008 720957007 en 900000000000550004 An extremely rare multi-systemic genetic disorder with characteristics of intellectual disability, deafness, skeletal abnormalities and coarse facial features.The syndrome is exceedingly rare and has been reported in only a few patients to date. Male and female patients have been described. The main clinical features include moderate to severe intellectual deficit, congenital sensorineural hearing impairment and broad, stubby hands and feet. A coarse face with full lips and cheeks is also found. These signs are reported to become more prominent with age. The pattern of inheritance appears to be autosomal recessive. 900000000000017005 +3322650017 20170131 1 900000000000207008 720958002 en 900000000000550004 Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) has characteristics of megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanelles, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone and congenital heart defects are frequently present. 900000000000017005 +3322695012 20170131 1 900000000000207008 720941007 en 900000000000550004 A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3). 900000000000017005 +3322696013 20170131 1 900000000000207008 720941007 en 900000000000550004 A severe form of congenital disorders of N-linked glycosylation characterised by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of haemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3). 900000000000017005 +3322722012 20170131 1 900000000000207008 720975008 en 900000000000550004 An event lasting less than a minute in an infant younger than 1 year of age reported by an observer that is now resolved. Including one or more of the following: cyanosis or pallor; absent, decreased, or irregular breathing; marked change in tone (hypertonia or hypotonia); and altered level of responsiveness. Diagnosed only when there is no explanation for a qualifying event after a history and physical examination and used to evaluate patients who are at lower risk for a subsequent event or serious underlying disorder. 900000000000017005 +3322731012 20170131 1 900000000000207008 720976009 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita, vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). Caused by loss-of-function mutations of the gene ALG3 (3q27.3). 900000000000017005 +3322739014 20170131 1 900000000000207008 720977000 en 900000000000550004 A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. 900000000000017005 +3322740011 20170131 1 900000000000207008 720977000 en 900000000000550004 A form of congenital disorders of N-linked glycosylation that is characterised by gastrointestinal symptoms (diarrhoea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), oedema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. 900000000000017005 +3322749012 20170131 1 900000000000207008 720978005 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23). 900000000000017005 +3322757010 20170131 1 900000000000207008 720979002 en 900000000000550004 A form of ectodermal dysplasia syndrome with characteristics of short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones, particularly elbows, carpals, metacarpals, and spine, intellectual disability and facial dysmorphism. 900000000000017005 +3322762011 20170131 1 900000000000207008 720980004 en 900000000000550004 Syndrome characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontal pyorrhea. Total permanent alopecia and periodontal pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. 900000000000017005 +3322763018 20170131 1 900000000000207008 720980004 en 900000000000550004 Syndrome characterised by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontal pyorrhoea. Total permanent alopecia and periodontal pyorrhoea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. 900000000000017005 +3322767017 20170131 1 900000000000207008 720981000 en 900000000000550004 This syndrome has characteristics of the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. It has been described in two brothers born to non consanguineous parents of Caucasian origin. Electroencephalogram findings were normal in both cases. Autosomal recessive transmission was considered likely but an X-linked recessive mode of inheritance could not be excluded. 900000000000017005 +3322773016 20170131 1 900000000000207008 720982007 en 900000000000550004 This syndrome has characteristics of the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. 900000000000017005 +3322776012 20170131 1 900000000000207008 720983002 en 900000000000550004 Syndrome with characteristics of severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophrys and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents. 900000000000017005 +3322783017 20170131 1 900000000000207008 720984008 en 900000000000550004 A form of acromelic dysplasia with the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits which all appear short), epiphyseal changes in the hips and in some, abnormal dentition and delayed bone age. A rare disease with less than 20 cases reported in the literature, however, it is likely under diagnosed. Caused by mutations in the growth differentiation factor 5 (GDF5) gene, located on chromosome 20q11.2, encoding CDMP1 (cartilage derived morphogenetic protein). CDMP1 belongs to the TGF beta super family and plays a role in bone growth and joint morphogenesis. Transmitted as an autosomal dominant condition. 900000000000017005 +3322791014 20170131 1 900000000000207008 720986005 en 900000000000550004 This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi. The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28). 900000000000017005 +3322792019 20170131 1 900000000000207008 720986005 en 900000000000550004 This syndrome is characterised by severe immunodeficiency, osteopetrosis, lymphoedema and anhidrotic ectodermal dysplasia. It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi. The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28). 900000000000017005 +3322795017 20170131 1 900000000000207008 720987001 en 900000000000550004 An extremely rare syndrome described in three members of a family (a mother and her two children) with the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children and alopecia, cardiac abnormalities and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. 900000000000017005 +3322826017 20170131 1 900000000000207008 719800009 en 900000000000550004 A multiple congenital anomalies, intellectual disability syndrome with characteristics of sensorineural hearing loss, onychodystrophy, osteodystrophy, mild to profound intellectual disability and seizures. About 50 cases have been reported to date. Caused by mutations in the TBC1D24 gene (16p13.3) encoding a protein involved in the regulation of membrane trafficking. Inherited autosomal recessively. 900000000000017005 +3322951015 20170131 1 900000000000207008 717773005 en 900000000000550004 Syndrome with characteristics of dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. It has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. 900000000000017005 +3323018016 20170131 1 900000000000207008 721007005 en 900000000000550004 Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. 900000000000017005 +3323021019 20170131 1 900000000000207008 721008000 en 900000000000550004 A very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Eight cases have been reported in the literature in two unrelated families. Dysmorphic features include hypertelorism, depressed nasal bridge, and large nose with a large nasal tip, anteverted nostrils and wide mouth with thick lips. Affected patients do not achieve language ability. The condition is probably hereditary, and transmitted as an autosomal recessive trait. 900000000000017005 +3323025011 20170131 1 900000000000207008 721009008 en 900000000000550004 Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male siblings from Kuwaiti first cousins. The clinical and radiological features of these patients were reported as a distinct cardio-skeletal syndrome. 900000000000017005 +3323032019 20170131 1 900000000000207008 721010003 en 900000000000550004 An extremely rare type of heart-hand syndrome. Described in two families to date, with characteristics of upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). 900000000000017005 +3323037013 20170131 1 900000000000207008 19092004 en 900000000000550004 Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1). 900000000000017005 +3323044016 20170131 1 900000000000207008 721013001 en 900000000000550004 A very rare type of heart-hand syndrome described in three members of a Spanish family to date. The syndrome has characteristics of cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. 900000000000017005 +3323049014 20170131 1 900000000000207008 721014007 en 900000000000550004 A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family. The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. 900000000000017005 +3323054017 20170131 1 900000000000207008 721015008 en 900000000000550004 Syndrome that is characterised by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed. 900000000000017005 +3323055016 20170131 1 900000000000207008 721015008 en 900000000000550004 Syndrome that is characterized by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed. 900000000000017005 +3323063015 20170131 1 900000000000207008 721017000 en 900000000000550004 A very rare syndrome with characteristics of intellectual deficit, postaxial polydactyly and epilepsy. To date, seven individuals in three families have been reported. Facial features are not characteristic except for a prominent jaw. Concordant features in all subjects are postaxial polydactyly, which in four individuals affect also the feet, and intellectual deficit, which is usually severe, with absent or indistinct speech. Seizures are common with onset in the first months of life or in early childhood. Cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes have been recorded. 900000000000017005 +3323088011 20170131 1 900000000000207008 721882001 en 900000000000550004 Syndrome with the association of proximal fusion of the radius and ulna and congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). 900000000000017005 +3323106011 20170131 1 900000000000207008 721975004 en 900000000000550004 Syndrome with the association of epiphyseal dysplasia, short stature, microcephaly and in the first reported cases congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. 900000000000017005 +3323119010 20170131 1 900000000000207008 721877008 en 900000000000550004 A genetic variant of Mendelian susceptibility to mycobacterial disease with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. The disease presents in early childhood. BCG is the most common infection encountered, usually after receiving the vaccination. Non-typhoidal Salmonella infections are also seen in half of all cases. Caused by homozygous mutations in the IL12B gene on chromosome 5q31.1-q33.1 which encodes for the IL-12p40 subunit. There are 9 different IL12B mutant alleles identified, including 2 small insertions, 3 small deletions, 2 splice site mutations, 1 large deletion and 1 nonsense mutation. 900000000000017005 +3323160015 20170131 1 900000000000207008 721883006 en 900000000000550004 An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears). 900000000000017005 +3323286018 20170131 1 900000000000207008 721057002 en 900000000000550004 Thoracic insufficiency syndrome is a complex condition involving congenital chest wall deformities that affect normal breathing and lung growth. It results from serious defects affecting the ribs or chest wall, such as severe scoliosis or rib fusion, and various hypoplastic thorax syndromes such as Jeune Syndrome and Jarcho-Levin syndrome. 900000000000017005 +3323311015 20170131 1 900000000000207008 722019000 en 900000000000550004 A very rare genetic malformation syndrome with characteristics of upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances and congenital bilateral non-progressive mixed hearing loss. Prevalence is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins) have been described. The syndrome has been linked to mutations in the SALL4 gene (20q13.2) encoding a transcription factor. Inherited in an autosomal dominant manner. 900000000000017005 +3323325019 20170131 1 900000000000207008 721069005 en 900000000000550004 This syndrome has characteristics of bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant. 900000000000017005 +3323362017 20170131 1 900000000000207008 721072003 en 900000000000550004 This syndrome has characteristics of short stature, anterior pituitary hormone deficiency, small sella turcica and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). 900000000000017005 +3323366019 20170131 1 900000000000207008 721073008 en 900000000000550004 This syndrome has characteristics of short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents. 900000000000017005 +3323369014 20170131 1 900000000000207008 721074002 en 900000000000550004 Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner. 900000000000017005 +3323370010 20170131 1 900000000000207008 721074002 en 900000000000550004 Short stature due to primary acid-labile subunit (ALS) deficiency is characterised by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinaemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner. 900000000000017005 +3323374018 20170131 1 900000000000207008 721075001 en 900000000000550004 A very rare syndrome with the association of thin and short upper and lower tarsus and absence of the lower eyelashes. It has been described in 11 patients from a four-generation family. There is no other unusual feature. Inheritance is autosomal dominant. 900000000000017005 +3323377013 20170131 1 900000000000207008 721076000 en 900000000000550004 Syndrome that is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection and failure to thrive. It has been recently described in two siblings born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. 900000000000017005 +3323378015 20170131 1 900000000000207008 721076000 en 900000000000550004 Syndrome that is characterised by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection and failure to thrive. It has been recently described in two siblings born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotaemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. 900000000000017005 +3323400012 20170131 1 900000000000207008 721083007 en 900000000000550004 A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities. 900000000000017005 +3323401011 20170131 1 900000000000207008 721083007 en 900000000000550004 A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterised by the association of hypoparathyroidism, nephropathy, congenital lymphoedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities. 900000000000017005 +3323405019 20170131 1 900000000000207008 721084001 en 900000000000550004 An exceedingly rare genetic disorder with characteristics of cutaneous pigmentation anomalies, ocular disorders and hearing loss. The syndrome was described in 1990 in two patients from the same Yemenite family. A brother and sister were described as having cutaneous patchy hypo and hyperpigmentation on the trunk and extremities, grey hair, white brows and lashes. Ocular manifestations were microcornea, coloboma and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous. The cause of this syndrome has not been determined. The inheritance pattern appears to be autosomal recessive. 900000000000017005 +3323409013 20170131 1 900000000000207008 721085000 en 900000000000550004 This syndrome is characterized by sensorineural hearing loss, generalized enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. 900000000000017005 +3323410015 20170131 1 900000000000207008 721085000 en 900000000000550004 This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. 900000000000017005 +3323436010 20170131 1 900000000000207008 721086004 en 900000000000550004 This syndrome has characteristics of sensorineural deafness, bilateral synostosis of the fourth and fifth metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). 900000000000017005 +3323443016 20170131 1 900000000000207008 721087008 en 900000000000550004 This syndrome has characteristics of severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopenia, microcephaly and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene is q1-21 region of the X chromosome. 900000000000017005 +3323448013 20170131 1 900000000000207008 721088003 en 900000000000550004 A very rare, generally severe form of neonatal diabetes mellitus with characteristics of a triad of developmental delay, epilepsy, and neonatal diabetes. Fewer than 40 cases have been reported to date. DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. The associated neurologic features range from mild psychomotor retardation to severe developmental delay. Patients also have therapy-resistant epilepsy and muscle hypotonia. Caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. Rare reports of specific mutations in the ABCC8 gene (11p15.1) have also been associated with DEND. The pattern of inheritance of DEND syndrome is either de novo mutation, dominant, or very rarely recessive. 900000000000017005 +3323451018 20170131 1 900000000000207008 721089006 en 900000000000550004 Syndrome with the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphism, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive. 900000000000017005 +3323455010 20170131 1 900000000000207008 721090002 en 900000000000550004 Disease with characteristics of recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five siblings in a family of Kirghizian origin (Central Asia). Three of the siblings also presented with keratitis leading to visual impairment or blindness. Transmission is autosomal recessive. 900000000000017005 +3323460014 20170131 1 900000000000207008 721091003 en 900000000000550004 Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasia. It has signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. 900000000000017005 +3323463011 20170131 1 900000000000207008 721092005 en 900000000000550004 This syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia. 900000000000017005 +3323464017 20170131 1 900000000000207008 721092005 en 900000000000550004 This syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia. 900000000000017005 +3323471010 20170131 1 900000000000207008 721093000 en 900000000000550004 A very rare disorder with characteristics of autoimmunity, lymphadenopathy and/or splenomegaly. The prevalence is not known. The disorder has been reported in fewer than 30 patients to date. Age of onset is highly variable, ranging from childhood to young adulthood. A possible increased risk of cancer has been suggested in these patients. The cause is not known but it is thought to be hereditary. Biologically, DALD has characteristics of normal double-negative T-cells (DNTs) and defective in vitro FAS-mediated apoptosis. The pattern of inheritance of DALD is not known. 900000000000017005 +3323480010 20170131 1 900000000000207008 721094006 en 900000000000550004 Diaphanospondylodysostosis has characteristics of absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests and cleft palate. As some patients were born to consanguineous parents, this disorder is likely to be transmitted as an autosomal recessive trait. The patients are stillborn or die soon after birth of respiratory insufficiency. 900000000000017005 +3323485017 20170131 1 900000000000207008 721095007 en 900000000000550004 Syndrome with the association of classical diaphragmatic hernia (Bochdalek type), severe lung hypoplasia and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case) and an ossification defect of the skull (one case). 900000000000017005 +3323487013 20170131 1 900000000000207008 721096008 en 900000000000550004 Syndrome with the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. 900000000000017005 +3323498014 20170131 1 900000000000207008 721099001 en 900000000000550004 A glycogen storage disease of adults with characteristics of progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. The prevalence is unknown. More than 50 cases have been described to date in Ashkenazi (in most cases) and non-Ashkenazi Jewish individuals. Presents after the age of 40, with urinary incontinence (indicative of neurogenic bladder) often being the first manifestation. Caused by a mutation in the GBE1 gene, encoding the glucan (1, 4-alpha-) branching enzyme 1 (GBE). 900000000000017005 +3323503012 20170131 1 900000000000207008 721100009 en 900000000000550004 An extremely rare form of carbohydrate deficient glycoprotein syndrome with clinical characteristics in the single reported case to date of moderate mental retardation with slow and inarticulate speech, truncal ataxia and mild hypotonia. 900000000000017005 +3323509011 20170131 1 900000000000207008 721101008 en 900000000000550004 An investigation method used to detect unilateral hypofunction of the peripheral vestibular system caused mainly by acute vestibulopathy. The performer of the test sits face to face with the patient and holding the patient's head from the front. The patient is advised to fix their gaze on a target and the head is rapidly turned to one side and then to the other side while watching the eyes for the presence or absence of any corrective movements. 900000000000017005 +3323517015 20170131 1 900000000000207008 717774004 en 900000000000550004 Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus. 900000000000017005 +3323530019 20170131 1 900000000000207008 721105004 en 900000000000550004 A syndrome affecting the development of blood vessels, soft tissue and bone with three characteristic features: port-wine stain, abnormal overgrowth of soft tissues and bones and venous malformations. Caused by mutations in the PIK3CA gene. This gene provides instructions for making the p110 alpha (p110α) protein, which is a subunit of phosphatidylinositol 3-kinase (PI3K). The PIK3CA gene mutations associated with Klippel-Trenaunay syndrome alter the p110α protein. The altered subunit makes PI3K abnormally active, which allows cells to grow and divide continuously. Increased cell proliferation leads to abnormal growth of the bones, soft tissues, and blood vessels. This syndrome is almost always sporadic meaning it can occur in people with no history of the disorder in their family. Studies suggest that the condition results from gene mutations that are not inherited. 900000000000017005 +3323597019 20170131 1 900000000000207008 717785002 en 900000000000550004 A malformation syndrome with the combination of bilateral coloboma of macula, horizontal pendular nystagmus, severe visual loss and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails, broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Inherited in a dominant manner. 900000000000017005 +3323602014 20170131 1 900000000000207008 717811007 en 900000000000550004 A form of combined immunodeficiency characterized by recurrent viral, bacterial, mycobacterial and fungal infections from birth, chronic diarrhea, pneumonia, meningitis, enteritis, gastrointestinal candidiasis, sepsis and otitis media. All patients present with ectodermal dysplasia that is characterized by hypocalcified amelogenesis imperfecta and leads to the loss of soft dental enamel. In addition, patients present at birth with congenital myopathy, which is characterized by non-progressive generalized muscular dysplasia. Caused by mutations in the ORAI1 and STIM1 genes (12q24 and 11p15.5). Transmission is autosomal recessive. 900000000000017005 +3323603016 20170131 1 900000000000207008 717811007 en 900000000000550004 A form of combined immunodeficiency characterised by recurrent viral, bacterial, mycobacterial and fungal infections from birth, chronic diarrhoea, pneumonia, meningitis, enteritis, gastrointestinal candidiasis, sepsis and otitis media. All patients present with ectodermal dysplasia that is characterised by hypocalcified amelogenesis imperfecta and leads to the loss of soft dental enamel. In addition, patients present at birth with congenital myopathy, which is characterised by non-progressive generalised muscular dysplasia. Caused by mutations in the ORAI1 and STIM1 genes (12q24 and 11p15.5). Transmission is autosomal recessive. 900000000000017005 +3323607015 20170131 1 900000000000207008 717812000 en 900000000000550004 A mitochondrial disease with characteristics of cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. May present in two forms, a neonatal lethal form or a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms. Approximately half of the patients die within the first year of life due to cardiac failure. Nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development are occasional features. Those who survive the neonatal period and infancy manifest the chronic form with stable cardiomyopathy and myopathy and have a normal intellect. Physical mobility is impaired due to muscular weakness in most patients. In the majority of cases, mutations (nonsense, frame-shift, start codon or splice site) in the AGK gene have been identified. The reported mutations are transmitted in an autosomal recessive manner. 900000000000017005 +3323610010 20170131 1 900000000000207008 717813005 en 900000000000550004 This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies. To date, only three cases (two brothers and one unrelated girl) have been reported. Central nervous system anomalies manifest as poor language skills, inappropriate behaviour (temper tantrums, aggressiveness), concentration and attention span difficulties and impulsiveness. Intellectual deficit was reported in two out of the three cases. Skin anomalies were hyperkeratosis, granular layer thickening, and sweat gland and melanocyte abnormalities. 900000000000017005 +3323611014 20170131 1 900000000000207008 717813005 en 900000000000550004 This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies. To date, only three cases (two brothers and one unrelated girl) have been reported. Central nervous system anomalies manifest as poor language skills, inappropriate behavior (temper tantrums, aggressiveness), concentration and attention span difficulties and impulsiveness. Intellectual deficit was reported in two out of the three cases. Skin anomalies were hyperkeratosis, granular layer thickening, and sweat gland and melanocyte abnormalities. 900000000000017005 +3323615017 20170131 1 900000000000207008 717814004 en 900000000000550004 A disorder belonging to the group of oromandibular-limb hypogenesis syndromes with the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. The syndrome is very rare with less than 30 cases reported in the literature so far. Associated anomalies include cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (oligodactyly, syndactyly and polydactyly as well as more severe limb malformations). The syndrome appears to be sporadic. 900000000000017005 +3323616016 20170131 1 900000000000207008 89444000 en 900000000000550004 A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). 900000000000017005 +3323625010 20170131 1 900000000000207008 717821004 en 900000000000550004 An extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. Caused by compound heterozygous mutation in the glycogenin 1 (GYG1) gene, which encodes glycogenin-1, on chromosome 3q24. 900000000000017005 +3323628012 20170131 1 900000000000207008 717822006 en 900000000000550004 A multiple malformation syndrome with characteristics of Hirschprung megacolon and microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. It has been described in about 10 patients, boys and girls. Some of the reported cases also had iris coloboma, hypotonia, and ptosis. Inherited as an autosomal recessive trait and was found to be caused by mutations in KIAA1279 on chromosome 10q21.3-q22.1. 900000000000017005 +3323634017 20170131 1 900000000000207008 717823001 en 900000000000550004 Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. To date, 11 patients have been reported. Chondrodysplasia has characteristics of mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit. The condition is most probably hereditary, transmitted as an autosomal recessive trait. 900000000000017005 +3323639010 20170131 1 900000000000207008 717824007 en 900000000000550004 Grange syndrome has characteristics of stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. So far, the syndrome has been reported in six patients from three families. Congenital heart defects were also reported in some cases. The mode of transmission remains unclear, both autosomal recessive and autosomal dominant inheritance with decreased penetrance and parental gonadal mosaicism have been proposed. 900000000000017005 +3323645019 20170131 1 900000000000207008 717825008 en 900000000000550004 Characterized by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastroesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastroesophageal reflux, and cough triggered by noxious odors or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant. 900000000000017005 +3323646018 20170131 1 900000000000207008 717825008 en 900000000000550004 Characterised by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastrooesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastrooesophageal reflux, and cough triggered by noxious odours or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant. 900000000000017005 +3323650013 20170131 1 900000000000207008 717826009 en 900000000000550004 This syndrome has characteristics of sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. It has been described in four individuals from a consanguineous Lebanese family. Onset occurred in infancy with moderate developmental delay, hypotonia and areflexia. Other less constant findings included weakness, variable dysmorphic features, unsteadiness, and optic atrophy. Transmission appears to be autosomal recessive. 900000000000017005 +3323654016 20170131 1 900000000000207008 717827000 en 900000000000550004 Syndrome with the association of an axonal sensory and autonomic neuropathy and spastic paraplegia. So far, around nine families have been described in the literature, together with a few sporadic cases. Onset occurs between 1 and 5 years of age with spasticity and progressive severe loss of temperature and pain sensation associated with ulcero-mutilating acropathy. Linkage to chromosome 5q15.31-14.1 was identified in a consanguineous Moroccan family with an autosomal recessive mode of inheritance. Early reports suggested autosomal dominant inheritance but transmission in more recently described families appeared to be autosomal recessive. 900000000000017005 +3323667018 20170131 1 900000000000207008 253017000 en 900000000000550004 Klatskin tumor is an extra-hepatic cholangiocarcinoma arising in the junction of the main right or left hepatic ducts to form the common hepatic duct. Klatskin tumors occur in the hepatic duct bifurcation. Patients are usually asymptomatic until advanced stages of the disease where jaundice is the principle manifestation. Abdominal pain, weight loss and malaise are other manifestations. Metastasis to regional lymph nodes is frequent. In 90% of cases Klatskin tumors occur sporadically but certain risk factors have been associated with the disease. 900000000000017005 +3323670019 20170131 1 900000000000207008 721119004 en 900000000000550004 An in vitro decrease in the platelet count. 900000000000017005 +3323671015 20170131 1 900000000000207008 253017000 en 900000000000550004 Klatskin tumour is an extra-hepatic cholangiocarcinoma arising in the junction of the main right or left hepatic ducts to form the common hepatic duct. Klatskin tumours occur in the hepatic duct bifurcation. Patients are usually asymptomatic until advanced stages of the disease where jaundice is the principle manifestation. Abdominal pain, weight loss and malaise are other manifestations. Metastasis to regional lymph nodes is frequent. In 90% of cases Klatskin tumours occur sporadically but certain risk factors have been associated with the disease. 900000000000017005 +3323685013 20170131 1 900000000000207008 721141004 en 900000000000550004 A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms. 900000000000017005 +3323686014 20170131 1 900000000000207008 721141004 en 900000000000550004 A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leucodystrophy and characterised by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms. 900000000000017005 +3323691010 20170131 1 900000000000207008 721142006 en 900000000000550004 A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy and characterized by strokes, vision loss, pseudotumors, seizures, motor and sensory deficits, headaches and occasionally renal disease. 900000000000017005 +3323692015 20170131 1 900000000000207008 721142006 en 900000000000550004 A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leucodystrophy and characterised by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease. 900000000000017005 +3323702017 20170131 1 900000000000207008 721146009 en 900000000000550004 This syndrome has characteristics of major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. 900000000000017005 +3323707011 20170131 1 900000000000207008 721147000 en 900000000000550004 A form of ectodermal dysplasia syndrome with characteristics of trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. 900000000000017005 +3323713019 20170131 1 900000000000207008 721148005 en 900000000000550004 A primary bone dysplasia with characteristics of premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis and joint space narrowing. 900000000000017005 +3324367015 20170131 1 900000000000207008 717859007 en 900000000000550004 A lethal malformation syndrome reported in 2 brothers of first-cousin parents with characteristics of hydrocephalus, cardiac malformation, dense bones and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984. 900000000000017005 +3324374013 20170131 1 900000000000207008 717887003 en 900000000000550004 An exceedingly rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype including iris coloboma, short stature, obesity, hypogonadism, post axial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. The syndrome shares features with Bardet-Biedl syndrome. There have been no new descriptions in the literature since 1997. 900000000000017005 +3324379015 20170131 1 900000000000207008 717909004 en 900000000000550004 Syndrome with the association of bilateral microtia, severe to profound hearing impairment and cleft palate. It has been described in four individuals from a consanguineous Iranian family. The syndrome is caused by point mutations in the HOXA2 gene, a gene that has already been shown to be involved in development of the auditory system in mice. 900000000000017005 +3324385010 20170131 1 900000000000207008 717911008 en 900000000000550004 An ectodermal dysplasia syndrome with the association of abnormalities of the eyelids, lips, and teeth. These anomalies include lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate and conical teeth. Additional occasional features include hypertelorism, lagophthalmos, imperforate anus, and syndactyly. Prevalence is unknown. Over 50 cases have been described in literature to date. Transmission is autosomal dominant with 100% penetrance. 900000000000017005 +3324390013 20170131 1 900000000000207008 717913006 en 900000000000550004 A rare otorhinolaryngological malformation syndrome with characteristics of a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Reported in 3 families to date. The facies has a mask-like appearance due to weakness of facial muscles and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus, bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual disability, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes; Babinski sign, poor coordination and joint laxity are also observed. 900000000000017005 +3324395015 20170131 1 900000000000207008 717914000 en 900000000000550004 Syndrome with the association of blepharophimosis and ptosis, V-esotropia and weakness of extraocular and frontal muscles, syndactyly of the toes, short stature, prognathism, hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive. 900000000000017005 +3324397011 20170131 1 900000000000207008 717915004 en 900000000000550004 This syndrome has characteristics of bilateral congenital blepharoptosis, ectopia lentis and high myopia. It has been described in three members of one family (in a mother and her two daughters). Transmission appears to be autosomal dominant. 900000000000017005 +3324400019 20170131 1 900000000000207008 717920004 en 900000000000550004 This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. The syndrome has been described in four patients (three males and one female) from the same family. The male patients presented with the complete phenotype while the female patient suffered only from blindness. No mutations were found in the FBN1, TGFBR1 and TGFBR2 genes that are associated with other syndromes presenting similar clinical findings. 900000000000017005 +3324405012 20170131 1 900000000000207008 717940006 en 900000000000550004 A very rare multiple congenital anomaly syndrome. The syndrome has characteristics of bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. 900000000000017005 +3324410011 20170131 1 900000000000207008 717941005 en 900000000000550004 This syndrome has characteristics of hyperlaxity of the skin involving the entire body. It has been described in six patients. The phenotype is linked to a deficiency in vitamin K-dependent clotting factors and the syndrome has been associated with mutations in the GGCX gene. This gene encodes gamma-glutamyl carboxylase, an enzyme that has already been implicated in congenital vitamin K-dependent clotting factor deficiencies. This syndrome should be distinguished from pseudoxanthoma elasticum and cutis laxa in which the excessive skin folding is limited to specific zones. 900000000000017005 +3324413013 20170131 1 900000000000207008 717942003 en 900000000000550004 An infantile-onset neurometabolic disease with characteristics of dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian family to date. Caused by a mutation in the SLC18A2 gene (10q25), encoding the vesicular monoamine transporter 2 (VMAT2) which is responsible for the transport of dopamine and serotonin into synaptic vesicles. Mutations in this gene lead to the impairment of VMAT2 and consequently to problems with motor control, autonomic functioning and mood regulation. It is inherited in an autosomal recessive manner. 900000000000017005 +3324417014 20170131 1 900000000000207008 717943008 en 900000000000550004 Goossens-Devriendt syndrome has characteristics of intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, brain malformation, abnormal hair with temporal balding and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay. 900000000000017005 +3324421019 20170131 1 900000000000207008 717944002 en 900000000000550004 A multiple congenital anomalies syndrome, described in one family to date, with characteristics of branchial cysts or fistula, ear malformations, congenital hearing loss (conductive, sensorineural, and mixed), internal auditory canal hypoplasia, strabismus, trismus, abnormal fifth fingers, vitiliginous lesions, short stature and mild learning disability. Renal and urethral abnormalities are absent. 900000000000017005 +3324442017 20170131 1 900000000000207008 717945001 en 900000000000550004 X-linked mental retardation with characteristics of Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). It has been described in two brothers, one of whom died shortly after birth. One of the brothers also had Hirschsprung disease and Cleft palate/cryptorchidism (giving the acronym: BRESHECK syndrome). Transmission is X-linked dominant. 900000000000017005 +3324612012 20170131 1 900000000000207008 721200000 en 900000000000550004 A rare form of hereditary optic atrophy seen in only 4 families to date. With onset in early childhood the disease has characteristics of progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. 900000000000017005 +3324651019 20170131 1 900000000000207008 721219005 en 900000000000550004 An exceedingly rare form of prion disease with characteristics of neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease, with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis. 900000000000017005 +3324655011 20170131 1 900000000000207008 721220004 en 900000000000550004 A severe form of developmental verbal apraxia with characteristics of a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters and comprehension delay. Hearing and intelligence are normal. Inheritance is autosomal dominant with full penetrance. 900000000000017005 +3324659017 20170131 1 900000000000207008 721221000 en 900000000000550004 An extremely rare malformative association, described in only two siblings to date with characteristics of Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. 900000000000017005 +3324662019 20170131 1 900000000000207008 721222007 en 900000000000550004 This syndrome has characteristics of Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. 900000000000017005 +3324666016 20170131 1 900000000000207008 721223002 en 900000000000550004 A fatal malformative disorder with characteristics of Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. 900000000000017005 +3324670012 20170131 1 900000000000207008 721224008 en 900000000000550004 Holmes Gang syndrome is an X-linked mental retardation syndrome that was first described in 1984 in three males from two generations of the same family. The syndrome has characteristics of microcephaly, a large anterior fontanelle, characteristic facies (short nose, anteverted nares, epicanthal folds), club-foot deformity and delayed psychomotor development. One of the affected males also had renal hypoplasia/dysplasia. All three patients died during infancy. The syndrome is caused by mutations in the ATRX gene (Xq13.3). Inheritance is X-linked recessive. 900000000000017005 +3324674015 20170131 1 900000000000207008 721225009 en 900000000000550004 An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). These disorders are caused by a functional deficiency of the cytoplasmic enzyme methionine synthase (MS), which catalyzes remethylation of homocysteine to form methionine. 900000000000017005 +3324675019 20170131 1 900000000000207008 721225009 en 900000000000550004 An inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, encephalopathy and sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). These disorders are caused by a functional deficiency of the cytoplasmic enzyme methionine synthase (MS), which catalyses remethylation of homocysteine to form methionine. 900000000000017005 +3324678017 20170131 1 900000000000207008 721226005 en 900000000000550004 A life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet disease, with the association of multiple pulmonary artery aneurysms and peripheral venous thrombosis. Prevalence is unknown but fewer than 30 cases have been reported in the literature since its first description in 1959 by Hughes and Stovin. Patients (mostly men aged 12-40 years) generally present with the nonspecific signs of pulmonary artery aneurysms, following a history of peripheral venous thrombosis. Other associated signs may include fever and intracranial hypertension. Aneurysms can occur anywhere in the systemic circulation. Recurrent phlebitis also commonly involves the large vessels, resulting in thrombus formation. In general, there is a predisposition for thrombus formation affecting the peripheral veins. It is assumed the disease is a form of vasculitis following a similar mechanism of pathogenesis to that thought to be involved in Behcet disease. 900000000000017005 +3324680011 20170131 1 900000000000207008 721227001 en 900000000000550004 This syndrome has characteristics of craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). 900000000000017005 +3324683013 20170131 1 900000000000207008 721228006 en 900000000000550004 A severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes with a triad of movement, psychiatric and cognitive abnormalities. Prevalence and incidence are unknown but this disease is very rare, with fewer than 50 families reported worldwide. Patients may develop psychiatric abnormalities as the initial manifestation, with later appearance of chorea, parkinsonism and dystonia. The disease may evolve from chorea to a more bradykinetic, dystonic phenotype, or remain parkinsonian. Caused by expanded trinucleotide repeats of the JPH3 junctophilin 3 gene (16q24.3). Affected individuals have CTG/CAG repeat expansions of 41-59 triplets (normal population: 6-27). Follows an autosomal dominant pattern of inheritance. A relentlessly progressive disorder with a poor prognosis. 900000000000017005 +3324688016 20170131 1 900000000000207008 721229003 en 900000000000550004 This syndrome has principal characteristics of by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly and costovertebral dysplasia may also be present. The syndrome has been described in eight female patients. The mode of transmission has not been firmly established but appears to be either autosomal or X-linked dominant. 900000000000017005 +3324714018 20170131 1 900000000000207008 721231007 en 900000000000550004 Syndrome with the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. It has been described in two males from one family. An X-linked recessive mode of inheritance was suggested. 900000000000017005 +3324717013 20170131 1 900000000000207008 721232000 en 900000000000550004 A severe fetal malformation syndrome with characteristics of craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Mostly present in families of Finnish descent. The syndrome also has characteristics of postaxial and preaxial polydactyly. Caused by mutations in HYLS1 (11q24.2) and KIF7 (15q26.1). Inheritance is autosomal recessive. Stillbirth or neonatal death is the rule, although rare cases with several months’ survival have been reported. 900000000000017005 +3324717013 20210131 0 900000000000207008 721232000 en 900000000000550004 A severe fetal malformation syndrome with characteristics of craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Mostly present in families of Finnish descent. The syndrome also has characteristics of postaxial and preaxial polydactyly. Caused by mutations in HYLS1 (11q24.2) and KIF7 (15q26.1). Inheritance is autosomal recessive. Stillbirth or neonatal death is the rule, although rare cases with several months’ survival have been reported. 900000000000017005 +3324722013 20170131 1 900000000000207008 721233005 en 900000000000550004 Syndrome with the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. An autosomal recessive mode of transmission appears likely. 900000000000017005 +3324726011 20170131 1 900000000000207008 721234004 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism, characterized by transient or persistent hyperinsulinemic hypoglycemia in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 later in life. 900000000000017005 +3324727019 20170131 1 900000000000207008 721234004 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism, characterised by transient or persistent hyperinsulinaemic hypoglycaemia in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 later in life. 900000000000017005 +3324730014 20170131 1 900000000000207008 721235003 en 900000000000550004 A very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset. 900000000000017005 +3324731013 20170131 1 900000000000207008 721235003 en 900000000000550004 A very rare autosomal dominant form of familial hyperinsulinism characterised clinically in the single reported family by postprandial hypoglycaemia, fasting hyperinsulinaemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset. 900000000000017005 +3324736015 20170131 1 900000000000207008 721236002 en 900000000000550004 A mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure. Less than 10 cases have been reported to date. The disease can present in infancy or early childhood. It presents with the manifestations of hyperinsulinemic hypoglycemia with vomiting, lethargy and seizures. Complications include coma and sudden death. It has responded well to diazoxide. It is caused by a mutation in the HADH gene (4q22-q26) encoding the SCHAD protein that has a dual function both as an enzyme and an inhibitor of glutamate dehydrogenase. The mode of inheritance is autosomal recessive. 900000000000017005 +3324737012 20170131 1 900000000000207008 721236002 en 900000000000550004 A mitochondrial fatty acid oxidation disorder characterised by hyperinsulinaemic hypoglycaemia with seizures, and in one case fulminant hepatic failure. Less than 10 cases have been reported to date. The disease can present in infancy or early childhood. It presents with the manifestations of hyperinsulinaemic hypoglycaemia with vomiting, lethargy and seizures. Complications include coma and sudden death. It has responded well to diazoxide. It is caused by a mutation in the HADH gene (4q22-q26) encoding the SCHAD protein that has a dual function both as an enzyme and an inhibitor of glutamate dehydrogenase. The mode of inheritance is autosomal recessive. 900000000000017005 +3324899017 20170131 1 900000000000207008 721296004 en 900000000000550004 This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals and hypoplasia and aplasia of the toes. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25). 900000000000017005 +3325131014 20170131 1 900000000000207008 15964901000119107 en 900000000000550004 A broad spectrum of other macroreentrant tachycardias in which the wave front does not travel around the tricuspid annulus. Atypical atrial flutter originates from the left atrium or areas in the right atrium (such as surgical scars) and has a variable appearance on ECG in regards to the flutter waves. 900000000000017005 +3325371011 20170131 1 900000000000207008 722035007 en 900000000000550004 MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), has characteristics of intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis and keratodermia. The syndrome has been described in four families descending from limited number of ancestors in Quebec. The disease is due to a mutation in the AP1S1 gene encoding the small subunit sigma1A of the AP-1 complex. Transmission is autosomal recessive. 900000000000017005 +3326187012 20170131 1 900000000000207008 721834007 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. 900000000000017005 +3326188019 20170131 1 900000000000207008 721834007 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. 900000000000017005 +3326194010 20170131 1 900000000000207008 721835008 en 900000000000550004 A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. It has been described in three families. Craniofacial manifestations include wide anterior fontanelle, flat occiput, hypertelorism, ptosis, proptosis, broad nasal bridge and nasal tip, long philtrum and posteriorly rotated or low set ears. Hypospadias and shawl scrotum are present in all males. Acral manifestations include syndactyly of fingers, broad thumbs or halluces or preaxial polydactyly. The affected patients have no intellectual deficit. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. 900000000000017005 +3326196012 20170131 1 900000000000207008 721836009 en 900000000000550004 A very rare syndrome with characteristics of the combination of hypertelorism, cleft lip and palate and microtia. Nine cases have been reported in the literature in seven families. Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common. The reported cases support autosomal recessive inheritance. 900000000000017005 +3326203017 20170131 1 900000000000207008 721837000 en 900000000000550004 A very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. 900000000000017005 +3326204011 20170131 1 900000000000207008 721837000 en 900000000000550004 A very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalised increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. 900000000000017005 +3326208014 20170131 1 900000000000207008 721838005 en 900000000000550004 Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems, periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria. 900000000000017005 +3326209018 20170131 1 900000000000207008 721838005 en 900000000000550004 Familial hypertryptophanaemia is characterised by intellectual deficit associated with behavioural problems, periodic mood swings, exaggerated affective responses and abnormal sexual behaviour. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanaemia and tryptophanuria. 900000000000017005 +3326219012 20170131 1 900000000000207008 721840000 en 900000000000550004 A rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system. 900000000000017005 +3326220018 20170131 1 900000000000207008 721840000 en 900000000000550004 A rare autosomal dominantly inherited disease of childhood characterised by hypoproliferative anaemia, hyperuricaemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system. 900000000000017005 +3326224010 20170131 1 900000000000207008 721841001 en 900000000000550004 Syndrome with the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. It has been described in two brothers. Growth hormone levels and the response to gonadotropin stimulation tests were also abnormal. 900000000000017005 +3326228013 20170131 1 900000000000207008 721842008 en 900000000000550004 Syndrome with the association of hypogonadotropic hypogonadism and frontoparietal alopecia. It has been described in six members (four males and two females) of a consanguineous Lebanese family. In addition to frontoparietal alopecia, the remaining scalp hair was also sparse and axillary and pubic hair was absent. Despite the family history of consanguinity, autosomal dominant inheritance with reduced penetrance was considered as the most likely mode of transmission. 900000000000017005 +3326237013 20170131 1 900000000000207008 721845005 en 900000000000550004 A cranial malformation with characteristics of facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. An autosomal recessive mode of inheritance has been suggested. 900000000000017005 +3326241012 20170131 1 900000000000207008 721846006 en 900000000000550004 A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. 900000000000017005 +3326242017 20170131 1 900000000000207008 721846006 en 900000000000550004 A syndrome with the association of demyelinating leucodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. 900000000000017005 +3326249014 20170131 1 900000000000207008 721847002 en 900000000000550004 A very rare subtype of Joubert syndrome with the neurological features of Joubert Syndrome and congenital hepatic fibrosis. Prevalence is unknown. The age of onset and severity of hepatic manifestations are variable. Some patients may also present chorioretinal or optic nerve colobomas and nephronophthisis but these are not mandatory features. Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1). 900000000000017005 +3326270015 20170131 1 900000000000207008 721862000 en 900000000000550004 A rare subtype of Joubert syndrome and related disorders with characteristics of the neurological features of Joubert syndrome associated with both renal and ocular disease. Prevalence is unknown. Patient’s present with retinal involvement (manifesting with either Leber congenital amaurosis or progressive retinal dystrophy) and nephronophthisis (usually juvenile). Retinal involvement is present at birth or may manifest later in life. Juvenile nephronophthisis usually becomes clinically symptomatic towards the late first decade or the early second decade of life. About 50% of patients carry mutations in the CEP290 gene (12q21.33), the syndrome is transmitted in an autosomal recessive manner. 900000000000017005 +3326270015 20210131 0 900000000000207008 721862000 en 900000000000550004 A rare subtype of Joubert syndrome and related disorders with characteristics of the neurological features of Joubert syndrome associated with both renal and ocular disease. Prevalence is unknown. Patient’s present with retinal involvement (manifesting with either Leber congenital amaurosis or progressive retinal dystrophy) and nephronophthisis (usually juvenile). Retinal involvement is present at birth or may manifest later in life. Juvenile nephronophthisis usually becomes clinically symptomatic towards the late first decade or the early second decade of life. About 50% of patients carry mutations in the CEP290 gene (12q21.33), the syndrome is transmitted in an autosomal recessive manner. 900000000000017005 +3326402012 20170131 1 900000000000207008 721873007 en 900000000000550004 A very rare subtype of Joubert syndrome and related disorders with characteristics of neurological features of Joubert syndrome associated with orofacial anomalies and often polydactyly. Prevalence is unknown. Typical oral findings include bifid or lobulated tongue, lingual hamartomas and multiple oral frenula, but cleft lip and/or palate can also be present. Two OFD6 patients, including one fetus, were found to carry a homozygous mutation in the TMEM216 gene (11q13.1), but mutations in this gene were excluded in several other patients and the genetic basis of this condition still remains elusive. 900000000000017005 +3326406010 20170131 1 900000000000207008 721874001 en 900000000000550004 A polymalformation syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. 900000000000017005 +3326409015 20170131 1 900000000000207008 721875000 en 900000000000550004 An X-linked mental retardation syndrome belonging to the group of conditions with the association of intellectual deficit and hypotonic facies. Prevalence is unknown but since its initial description in 1980 several unrelated families with affected males have been reported. The syndrome has characteristics of facial dysmorphism (a flat and broad nasal bridge, prominent forehead, up-slanting palpebral fissures, hypertelorism and various ear anomalies), growth failure, sensorineural deafness, microgenitalism and severe intellectual deficit. Inheritance is X-linked recessive and the syndrome is caused by mutations in the ATRX gene (Xq13.3). 900000000000017005 +3326409015 20210731 0 900000000000207008 721875000 en 900000000000550004 An X-linked mental retardation syndrome belonging to the group of conditions with the association of intellectual deficit and hypotonic facies. Prevalence is unknown but since its initial description in 1980 several unrelated families with affected males have been reported. The syndrome has characteristics of facial dysmorphism (a flat and broad nasal bridge, prominent forehead, up-slanting palpebral fissures, hypertelorism and various ear anomalies), growth failure, sensorineural deafness, microgenitalism and severe intellectual deficit. Inheritance is X-linked recessive and the syndrome is caused by mutations in the ATRX gene (Xq13.3). 900000000000017005 +3326415015 20170131 1 900000000000207008 721876004 en 900000000000550004 A genetic variant of Mendelian susceptibly to mycobacterial disease with characteristics of a complete deficiency in interferon gamma receptor 2, leading to an undetectable response to interferon gamma and consequently to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. The prevalence is unknown. Only ten children have been identified to date. This disease is caused by mutations in IFNGR2 on chromosome 21q22.1-22.2 which encodes the IFN-gamma receptor signal transducing chain, essential for IFN-gamma mediated immunity. Two clinically indistinguishable forms have been reportedly defined by the presence or absence of protein expression on the cell surface. 900000000000017005 +3326415015 20210930 0 900000000000207008 721876004 en 900000000000550004 A genetic variant of Mendelian susceptibly to mycobacterial disease with characteristics of a complete deficiency in interferon gamma receptor 2, leading to an undetectable response to interferon gamma and consequently to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. The prevalence is unknown. Only ten children have been identified to date. This disease is caused by mutations in IFNGR2 on chromosome 21q22.1-22.2 which encodes the IFN-gamma receptor signal transducing chain, essential for IFN-gamma mediated immunity. Two clinically indistinguishable forms have been reportedly defined by the presence or absence of protein expression on the cell surface. 900000000000017005 +3326424012 20170131 1 900000000000207008 721878003 en 900000000000550004 This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. 900000000000017005 +3326430012 20170131 1 900000000000207008 721879006 en 900000000000550004 Syndrome with characteristics of ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality. 900000000000017005 +3326433014 20170131 1 900000000000207008 721880009 en 900000000000550004 Syndrome with the association of microgastria and limb reduction defect. Most of the 50 cases of congenital microgastria reported in the literature are associated with other multiple congenital anomalies. Isolated congenital microgastria is an extremely rare condition; only three cases have been reported in the literature so far. The clinical manifestations of congenital microgastria depend on the stage at which the embryologic development of the stomach is arrested. The microgastria-limb reduction association is believed to arise as a result of aberrant mesodermal development in the fourth or fifth week of embryonic life. The outcome for most of the reported patients with severe microgastria was either death or extreme malnutrition. 900000000000017005 +3326437010 20170131 1 900000000000207008 721881008 en 900000000000550004 Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. To date, twelve patients have been described. All patients show moderate to severe intellectual deficit and speech delay. Seizures, early puberty and lower-extremity anomalies, including pes planus or cavus, fifth toe hypoplasia, and syndactyly, are common. Most affected females show preferential activation of the duplicated X chromosome. Duplications are mediated by nonallelic homologous recombination or Alu-mediated recombination. 900000000000017005 +3326446016 20170131 1 900000000000207008 721883006 en 900000000000550004 An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalised hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears). 900000000000017005 +3326461015 20170131 1 900000000000207008 721887007 en 900000000000550004 This syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys. 900000000000017005 +3326462010 20170131 1 900000000000207008 721887007 en 900000000000550004 This syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys. 900000000000017005 +3326470017 20170131 1 900000000000207008 721888002 en 900000000000550004 Syndrome with characteristics of the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent hypoplastic ears with almost absent pinna and bilateral amastia. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant. 900000000000017005 +3326800013 20170131 1 900000000000207008 720345008 en 900000000000550004 A rare type of severe combined immunodeficiency (SCID) with missing functional T-cells. The disease affects growth of the hair and nails. Affected individuals have no scalp hair, eyebrows, or eyelashes and the nails are often ridged, pitted, or abnormally curved. The disease results from mutations in the FOXN1 gene which prevents cells from making any functional FOXN1 protein. 900000000000017005 +3326806019 20170131 1 900000000000207008 721902002 en 900000000000550004 An autosomal dominant dysmorphic disorder with characteristics hypotelorism, blepharophimosis, facial asymmetry, small posteriorly angulated ears, a long prominent nose, a small mouth and an array of cleft palate abnormalities. Cutaneous syndactyly of the fingers and toes is a recurrent manifestation. Affected individuals often have a short stature and may present with a mild intellectual disability or learning difficulties. Hypospadias is frequently reported in males. Transmission is autosomal dominant with variable expressivity. 900000000000017005 +3326811017 20170131 1 900000000000207008 721903007 en 900000000000550004 Syndrome with characteristics of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. It has been reported in two brothers born to normal parents. Additional features include hypogonadism, flexion contractures, hypoplastic patella, scoliosis, eczema and recurrent infections. The characteristic facies were marked by sloping forehead, beaked nose, large protruding ears and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy. 900000000000017005 +3326814013 20170131 1 900000000000207008 721904001 en 900000000000550004 Rombo syndrome has characteristics of vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, and peripheral vasodilation with cyanosis and basal cell carcinomas. It has been described in four generations of one family and in two additional sporadic cases. The skin lesions become visible between 7 and 10 years of age and are most pronounced on the face. Basal cell carcinomas are frequent and develop at around 35 years of age. 900000000000017005 +3326817018 20170131 1 900000000000207008 721905000 en 900000000000550004 The association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly and hypoplastic genitalia) with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait. 900000000000017005 +3327862010 20170131 1 900000000000207008 721961006 en 900000000000550004 A system of medicine which aims at discovering the exact nature of the relationship between the emotions and bodily function, affirming the principle that the mind and body are one. 900000000000017005 +3327880018 20170131 1 900000000000207008 722067005 en 900000000000550004 An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy and hepatosplenomegaly associated with severe combined immunodeficiency. The signs and symptoms can evolve over time and may not appear simultaneously. Some patients present with some but not all of these symptoms and may be described as having atypical Omenn syndrome. The syndrome is not caused by a defined genetic defect. The majority of cases reported to date have hypomorphic mutations in RAG1 and RAG2 genes (11p13). Transmission is autosomal recessive. 900000000000017005 +3327881019 20170131 1 900000000000207008 722067005 en 900000000000550004 An inflammatory condition characterised by erythroderma, desquamation, alopecia, chronic diarrhoea, failure to thrive, lymphadenopathy and hepatosplenomegaly associated with severe combined immunodeficiency. The signs and symptoms can evolve over time and may not appear simultaneously. Some patients present with some but not all of these symptoms and may be described as having atypical Omenn syndrome. The syndrome is not caused by a defined genetic defect. The majority of cases reported to date have hypomorphic mutations in RAG1 and RAG2 genes (11p13). Transmission is autosomal recessive. 900000000000017005 +3327889017 20170131 1 900000000000207008 721972001 en 900000000000550004 A rare type of ectodermal dysplasia. Less than 50 cases have been described in the literature so far. Clinically, the syndrome has characteristics of severe hand and/or foot anomalies, and hypoplasia/aplasia of the mammary gland and nipple. Clinical expression is extremely variable. Individuals with mild LMS have isolated athelia. All three major categories of limb defects (i.e., deficiencies, duplications and fusion/separation defects), as well as several combinations of these anomalies, were observed. Variation in the severity of the limb defects may be observed, not only between individuals but also between the left and right hand/foot of one individual. Skin and hair are spared. An autosomal dominant disease caused by loss-of-function mutations in exon 13 and 14 of the TP63 gene found on the subtelomeric region of chromosome 3 (3q27). 900000000000017005 +3327893011 20170131 1 900000000000207008 721973006 en 900000000000550004 An extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. 900000000000017005 +3327894017 20170131 1 900000000000207008 721973006 en 900000000000550004 An extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterised by generalised congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralised tubular bones and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. 900000000000017005 +3327898019 20170131 1 900000000000207008 721974000 en 900000000000550004 A very rare syndrome with characteristics of microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Only three cases have been reported in the literature in three unrelated families. Dysmorphic features include trigonocephaly, exotropia, cleft palate, beaked nose and low-set ears. All the affected patients have associated congenital visceral malformations including congenital heart defects, diaphragmatic hernia, genital or cerebral abnormalities. The demonstration of congenital glaucoma, hallmark of the syndrome, in the father of an affected patient, supports autosomal dominant inheritance. Prognosis is poor. 900000000000017005 +3330004016 20170131 1 900000000000207008 721976003 en 900000000000550004 A very rare syndrome with characteristics of unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. It has been described in 7 patients. Cardiac abnormalities are variable and mainly consist of atrial septal defect, anomalous pulmonary venous return or patent ductus arteriosus. Thumb anomalies include triphalangeal, proximally placed, hypoplastic or reduplicated thumb. One patient had a preaxial polydactyly with a rudimentary thumb. Other malformations can be also observed. The affected patients have normal intellectual development. 900000000000017005 +3330007011 20170131 1 900000000000207008 721977007 en 900000000000550004 This syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. 900000000000017005 +3330008018 20170131 1 900000000000207008 721977007 en 900000000000550004 This syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridisation analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. 900000000000017005 +3330013019 20170131 1 900000000000207008 721978002 en 900000000000550004 This syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. 900000000000017005 +3330014013 20170131 1 900000000000207008 721978002 en 900000000000550004 This syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. 900000000000017005 +3330023011 20170131 1 900000000000207008 721979005 en 900000000000550004 This syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. 900000000000017005 +3330024017 20170131 1 900000000000207008 721979005 en 900000000000550004 This syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphedema and primary pulmonary hypertension. It has been described in a woman and four of her children. 900000000000017005 +3330029010 20170131 1 900000000000207008 721970009 en 900000000000550004 This syndrome has characteristics of prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure. 900000000000017005 +3330093018 20170131 1 900000000000207008 722002002 en 900000000000550004 This syndrome has characteristics of severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. 900000000000017005 +3330096014 20170131 1 900000000000207008 722003007 en 900000000000550004 This syndrome has characteristics of severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. The syndrome has been described in three siblings. The two brothers also presented with iris coloboma. Other clinical findings include contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. The disease is linked to the pericentromeric region of chromosome 4. Transmission is autosomal recessive. 900000000000017005 +3330100010 20170131 1 900000000000207008 722004001 en 900000000000550004 A developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the internal carotid artery, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients. 900000000000017005 +3330107013 20170131 1 900000000000207008 722005000 en 900000000000550004 A rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. 50 patients from 32 families of different ethnic origin have been described to date; however, it is likely that this condition is underdiagnosed. Most IRIDA patients have no major clinical signs, except for pallor, and have normal growth and development. IRIDA syndrome is due to mutations the TMPRSS6 gene encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Transmission is autosomal recessive. 900000000000017005 +3330108015 20170131 1 900000000000207008 722005000 en 900000000000550004 A rare autosomal recessive iron metabolism disorder characterised by iron deficiency anaemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. 50 patients from 32 families of different ethnic origin have been described to date; however, it is likely that this condition is underdiagnosed. Most IRIDA patients have no major clinical signs, except for pallor, and have normal growth and development. IRIDA syndrome is due to mutations the TMPRSS6 gene encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Transmission is autosomal recessive. 900000000000017005 +3330113016 20170131 1 900000000000207008 722006004 en 900000000000550004 Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. It has been described in six male patients, three of them being siblings born to nonconsanguineous parents. It has characteristics of the same anomalies as those described after maternal treatment with the drug isotretinoin: malformations of the face (small, malformed, or missing ears, micrognathia, cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies (hydrocephalus and posterior fossa abnormalities). As the syndrome has only been reported in males, X-linked recessive inheritance is possible but autosomal recessive inheritance cannot be ruled out. 900000000000017005 +3330119017 20170131 1 900000000000207008 717963001 en 900000000000550004 A rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood. This isolated anomaly has been described in around 20 individuals. Transmission may be autosomal recessive or dominant with variable penetrance. 900000000000017005 +3330120011 20170131 1 900000000000207008 717963001 en 900000000000550004 A rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood. This isolated anomaly has been described in around 20 individuals. Transmission may be autosomal recessive or dominant with variable penetrance. 900000000000017005 +3330122015 20170131 1 900000000000207008 722008003 en 900000000000550004 A form of familial primary hypomagnesemia characterized by low serum magnesium values but normal urinary magnesium values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. The disease has only been described in one large Brazilian kindred with 46 family members, of whom 21 were affected. Caused by a N255D mutation in the KCNA1 gene (12p13), which encodes the voltage-gated potassium channel Kv1.1. Mutations in KCNA1 result in a nonfunctional channel protein, with a dominant negative effect on wild-type Kv1.1 channel function, which is involved in the maintenance of membrane voltage and optimal function of the TRPM6 channel. Transmission is autosomal dominant. 900000000000017005 +3330123013 20170131 1 900000000000207008 722008003 en 900000000000550004 A form of familial primary hypomagnesaemia characterised by low serum magnesium values but normal urinary magnesium values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. The disease has only been described in one large Brazilian kindred with 46 family members, of whom 21 were affected. Caused by a N255D mutation in the KCNA1 gene (12p13), which encodes the voltage-gated potassium channel Kv1.1. Mutations in KCNA1 result in a nonfunctional channel protein, with a dominant negative effect on wild-type Kv1.1 channel function, which is involved in the maintenance of membrane voltage and optimal function of the TRPM6 channel. Transmission is autosomal dominant. 900000000000017005 +3330158010 20170131 1 900000000000207008 721584005 en 900000000000550004 Johnson neuroectodermal syndrome has characteristics of alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal and hypogonadotropic hypogonadism. So far, less than 30 cases have been described in the literature. Other variable features include a congenital heart defect, facial asymmetry, intellectual deficit, cleft palate, choanal stenosis and an increased tendency for dental caries. The syndrome is transmitted as an autosomal dominant trait. The combination of developmental anomalies present in patients with this syndrome is suggestive of an embryological defect in the formation of the neuroectodermal derivatives of cephalic neural crest. 900000000000017005 +3330182017 20170131 1 900000000000207008 722020006 en 900000000000550004 An extremely uncommon form of vasculitis. Eleven documented cases have been reported in the literature, affecting older children and young adults. In contrast to the classic form of temporal arteritis, it is not a systemic disease nor does it cause local symptoms at the temporal area.The term juvenile temporal arteritis was coined by Lie and his colleagues, in 1975, when they reported four cases of an otherwise asymptomatic disease presenting with a painless nodule at the temporal region. None of the cases showed evidence of systemic disease or history of trauma to the temporal region. Excisional biopsy of the lesions revealed a non-giant cell granulomatous inflammation of the temporal arteries with eosinophilic infiltration, intimal proliferation and micro aneurysmal disruption of the media. The disease has a benign clinical course, is treated by surgical excision and does not recur. 900000000000017005 +3330215017 20170131 1 900000000000207008 722027009 en 900000000000550004 Syndrome with characteristics of hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. Less than 10 cases have been described so far. 900000000000017005 +3330220017 20170131 1 900000000000207008 717964007 en 900000000000550004 A very rare motor neuron disease with characteristics of progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence and subsequently, loss of motor speech production. Affected patients are usually normal at birth and have normal early development. During the second year of life, they lose the ability to walk (some patients never walk due to early severe spasticity) and then develop slowly progressive upper motor neuron disorders including pseudobulbar palsy and spastic quadriplegia. Other signs include clumsiness, muscle weakness and balance difficulties. Mutations in the ALS2 gene (2q33-q35) encoding alsin, a protein that is abundant in motor neurons, and less commonly mutations in the ERLIN2 gene (8p11.2) have been reported. Inherited in an autosomal recessive manner. 900000000000017005 +3330226011 20170131 1 900000000000207008 722031003 en 900000000000550004 An extremely rare syndrome with characteristics of facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Only four cases have been reported in the literature, in three unrelated families. Dysmorphic features include bilateral cleft lip and palate, bulbous nasal tip and eye anomalies. The condition seems to be inherited as an autosomal recessive trait. 900000000000017005 +3330230014 20170131 1 900000000000207008 722032005 en 900000000000550004 A rare syndrome with characteristics of split-hand and split-foot deformity and ocular abnormalities mainly a congenital nystagmus. Ten cases from four families have been reported in the literature. In some cases the hands are monodactylous. The affected patients have normal mental development. The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism. 900000000000017005 +3330238019 20170131 1 900000000000207008 722033000 en 900000000000550004 This syndrome has characteristics of macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults. 900000000000017005 +3330257011 20170131 1 900000000000207008 722034006 en 900000000000550004 A minor trait of the lip transmitted in an autosomal dominant fashion. It has been described through several generations from three families in Japan. In all cases the nodule was asymptomatic and strictly isolated. 900000000000017005 +3330273017 20170131 1 900000000000207008 722036008 en 900000000000550004 This syndrome has characteristics of megalencephaly, polymicrogyria and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic. 900000000000017005 +3330290011 20170131 1 900000000000207008 722037004 en 900000000000550004 MEHMO syndrome has characteristics of severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of who died within the first two years of life. The causative gene has been located to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction. 900000000000017005 +3330394017 20170131 1 900000000000207008 722051004 en 900000000000550004 Syndrome with characteristics of precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of who died within the first month of life. The parents of the two children were nonconsanguineous and in good health however the pregnancies were complicated by maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. 900000000000017005 +3330399010 20170131 1 900000000000207008 722053001 en 900000000000550004 Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones. It has been described in two patients: a 43-year-old woman and a female infant. The disorder is caused by mutations in the gene encoding prohormone convertase-1 (PCSK1, 5q15-q21), an enzyme involved in the processing of POMC, and numerous prohormones including proinsulin. 900000000000017005 +3330400015 20170131 1 900000000000207008 722053001 en 900000000000550004 Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycemia, and elevated circulating levels of certain prohormones. It has been described in two patients: a 43-year-old woman and a female infant. The disorder is caused by mutations in the gene encoding prohormone convertase-1 (PCSK1, 5q15-q21), an enzyme involved in the processing of POMC, and numerous prohormones including proinsulin. 900000000000017005 +3330403018 20170131 1 900000000000207008 722054007 en 900000000000550004 A rare X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date with characteristics of severe visual impairment, translucent pale-blue irides, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome. 900000000000017005 +3330408010 20170131 1 900000000000207008 722055008 en 900000000000550004 The association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. It has been described in five patients (three boys and two girls). The clinical manifestations are evident from birth. The palate anomaly is usually cleft palate. In the majority of cases, postnatal growth is marked by statural and ponderal retardation. Microcephaly is present in all patients.Persistent hyperplastic primary vitreous was present in all cases reported so far. Facial dysmorphology has characteristics of full cheeks, a bulbous nasal tip and long ears with thickened helices. Hands and feet are small. Anomalies of the external genitalia were reported in some of the male patients, with two of the boys displaying cryptorchidism. Skeletal anomalies include pectus excavatum, joint hyperlaxity and kyphoscoliosis. Intellectual deficit (moderate to severe) is a constant feature. So far, neither a causative gene nor locus has been identified. 900000000000017005 +3330412016 20170131 1 900000000000207008 722056009 en 900000000000550004 Syndrome with characteristics of psychomotor retardation, microcephaly, up-slanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. Other anomalies can be present and include long thin hands and feet, ambiguous genitalia, hypertelorism. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the UBE3B gene (608047) on chromosome 12q24. 900000000000017005 +3330415019 20170131 1 900000000000207008 722057000 en 900000000000550004 A type of oculocutaneous albinism found in one Pakistani family to date, with characteristics of white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity. Affects males and females equally. Mapped to a locus on chromosome 4q24 but the gene has not yet been discovered. 900000000000017005 +3330418017 20170131 1 900000000000207008 722058005 en 900000000000550004 A type of oculocutaneous albinism recently discovered in one Chinese family, with characteristics of light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Caused by mutations in the SLC24A5 gene (15q21.1). 900000000000017005 +3330421015 20170131 1 900000000000207008 722059002 en 900000000000550004 A form of oculocutaneous albinism with characteristics of skin and hair hypopigmentation, nystagmus and iris transillumination. The prevalence is unknown. It has been discovered in several Faroese families and one patient of Lithuanian origin. Patients have a light skin pigmentation that is reported as lighter than their relatives. Caused by mutation in the C10orf11 gene (10q22.3) encoding a 198 amino acid protein. Currently, little is known about the biological function of this gene in humans and its role in this disease pathogenesis. 900000000000017005 +3330425012 20170131 1 900000000000207008 722060007 en 900000000000550004 An extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction. 900000000000017005 +3330426013 20170131 1 900000000000207008 722060007 en 900000000000550004 An extremely rare autosomal recessively inherited neuromuscular disease characterised by ocular manifestations such as ptosis and diplopia followed by chronic diarrhoea, malnutrition and intestinal pseudo-obstruction. 900000000000017005 +3330429018 20170131 1 900000000000207008 722061006 en 900000000000550004 This syndrome has characteristics of congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive. 900000000000017005 +3330433013 20170131 1 900000000000207008 722062004 en 900000000000550004 This disease has characteristics of retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive. 900000000000017005 +3330438016 20170131 1 900000000000207008 722063009 en 900000000000550004 This syndrome has characteristics of neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait. 900000000000017005 +3330444017 20170131 1 900000000000207008 722064003 en 900000000000550004 Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. 900000000000017005 +3330447012 20170131 1 900000000000207008 722065002 en 900000000000550004 Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported. 900000000000017005 +3330448019 20170131 1 900000000000207008 722065002 en 900000000000550004 Okamoto syndrome is characterized by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalized hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported. 900000000000017005 +3330490013 20170131 1 900000000000207008 722077007 en 900000000000550004 Renal papillary necrosis in a patient with a long history of regular analgesic drug use. 900000000000017005 +3330492017 20170131 1 900000000000207008 722078002 en 900000000000550004 Obstructive nephropathy which has developed in a patient with a history of spinal cord injury or disease. 900000000000017005 +3330501018 20170131 1 900000000000207008 722081007 en 900000000000550004 Obstructive nephropathy which has developed in a patient with evidence of prostatic carcinoma. 900000000000017005 +3330503015 20170131 1 900000000000207008 722082000 en 900000000000550004 Obstructive nephropathy which has developed in a patient with evidence of bladder outflow obstruction caused by benign prostatic hypertrophy. 900000000000017005 +3330523019 20170131 1 900000000000207008 722085003 en 900000000000550004 Renal papillary necrosis in a patient with sickle cell disease or sickle cell trait. 900000000000017005 +3330536019 20170131 1 900000000000207008 722086002 en 900000000000550004 Glomerulonephritis with electron dense deposits in the glomerular baseement membrane in a patient with cancer, after exclusion of other possible causes of membranous glomerulonephritis. 900000000000017005 +3330646014 20170131 1 900000000000207008 722089009 en 900000000000550004 Obstructive nephropathy which has developed in a patient with bladder cancer. 900000000000017005 +3330649019 20170131 1 900000000000207008 722091001 en 900000000000550004 Documentation of decisions made. 900000000000017005 +3330652010 20170131 1 900000000000207008 722092008 en 900000000000550004 Potential complication following surgery 900000000000017005 +3330671012 20170131 1 900000000000207008 722095005 en 900000000000550004 Acute kidney injury caused by heart failure. Also known as Cardiorenal syndrome type 1. 900000000000017005 +3330682016 20170131 1 900000000000207008 722098007 en 900000000000550004 Chronic kidney disease developing de novo in a person who has previously donated a kidney for the purposes of kidney transplanataion. 900000000000017005 +3330707016 20170131 1 900000000000207008 722075004 en 900000000000550004 Syndrome with characteristics of facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993. 900000000000017005 +3330711010 20170131 1 900000000000207008 722105002 en 900000000000550004 Syndrome with characteristics of median cleft of upper lip, postaxial polydactyly of hands and feet and oral manifestations (duplicated frenulum). Less than 20 patients (predominantly of Indian origin) have been reported so far. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. 900000000000017005 +3330717014 20170131 1 900000000000207008 722106001 en 900000000000550004 Syndrome with characteristics of tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibia and/or radius, duplication of the halluces, short stature and mild intellectual deficit. The syndrome has been described in one family with four affected males in three generations. Increased susceptibility to respiratory infections has been noted. X-linked recessive transmission has been suggested, but the causative gene has not yet been identified. 900000000000017005 +3330720018 20170131 1 900000000000207008 722107005 en 900000000000550004 This syndrome has characteristics of hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia and abnormal and slender long bones due to an alteration in remodelling during ossification. It has been described in two brothers and was present at birth. The surviving boy displayed progressive osteopenia, slow healing of the periostal anomalies, hepatic angiomas, a thoracic deformity, delayed tooth eruption, progressive microcephaly with dilation of the cerebral ventricles and mental and motor delay. 900000000000017005 +3330723016 20170131 1 900000000000207008 722108000 en 900000000000550004 This syndrome has characteristics of severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance. 900000000000017005 +3330724010 20170131 1 900000000000207008 722107005 en 900000000000550004 This syndrome has characteristics of hypomineralization of the cranial bones, thoracic dystrophy, hypotonia and abnormal and slender long bones due to an alteration in remodelling during ossification. It has been described in two brothers and was present at birth. The surviving boy displayed progressive osteopenia, slow healing of the periostal anomalies, hepatic angiomas, a thoracic deformity, delayed tooth eruption, progressive microcephaly with dilation of the cerebral ventricles and mental and motor delay. 900000000000017005 +3330729017 20170131 1 900000000000207008 722109008 en 900000000000550004 A lethal skeletal dysplasia with characteristics of cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. First described in 1989, less than 30 cases have been reported so far. Etiology is not well known, but some histological findings report growth plate disorganization and adjacent diaphyseal ossification. There is evidence that the disease is caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12. 900000000000017005 +3330730010 20170131 1 900000000000207008 722109008 en 900000000000550004 A lethal skeletal dysplasia with characteristics of cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralisation. First described in 1989, less than 30 cases have been reported so far. Aetiology is not well known, but some histological findings report growth plate disorganisation and adjacent diaphyseal ossification. There is evidence that the disease is caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12. 900000000000017005 +3330734018 20170131 1 900000000000207008 722110003 en 900000000000550004 This syndrome has characteristics of osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two siblings born to consanguineous parents. 900000000000017005 +3330737013 20170131 1 900000000000207008 722111004 en 900000000000550004 This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked. 900000000000017005 +3330757012 20170131 1 900000000000207008 722113001 en 900000000000550004 Syndrome with characteristics of osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. 900000000000017005 +3330758019 20170131 1 900000000000207008 54036001 en 900000000000550004 The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression. 900000000000017005 +3330761018 20170131 1 900000000000207008 722114007 en 900000000000550004 This syndrome has characteristics of sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. It has been described in three adult sisters presenting with swelling of the limbs and occasional mild pain in the legs. 900000000000017005 +3330770015 20170131 1 900000000000207008 722117000 en 900000000000550004 Syndrome with characteristics of osteosclerosis, developmental delay and craniosynostosis. It has been reported in 13 patients from a four-generation family. Osteosclerosis was constant and most pronounced in the cranial base and calvarium. Craniosynostosis was reported in four patients and a mild developmental delay in three patients. Dysmorphic features were constant and included macrocephaly, brachycephaly, wide and high forehead, hypertelorism, prominent cheekbones and prominent jaw. A missense mutation A214T in the low-density lipoprotein receptor related protein 5 gene. 900000000000017005 +3330772011 20170131 1 900000000000207008 54036001 en 900000000000550004 The mildest form of otopalatodigital syndrome spectrum disorder, characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression. 900000000000017005 +3330773018 20170131 1 900000000000207008 722096006 en 900000000000550004 Pre-renal acute kidney injury caused by reduction in circulating blood volume, distinct from other potential causes of pre-renal acute kidney injury, e.g. sepsis, decreased arterial blood pressure. 900000000000017005 +3330775013 20170131 1 900000000000207008 42432003 en 900000000000550004 A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. 900000000000017005 +3330776014 20170131 1 900000000000207008 722118005 en 900000000000550004 Congenital nephrotic syndrome with evidence of an underlying congenital infection (e.g. syphilis, toxoplasmosis, rubella, hepatitis B). 900000000000017005 +3330779019 20170131 1 900000000000207008 722119002 en 900000000000550004 Glomerulonephritis with electron dense deposits in the glomerular baseement membrane; after exclusion of membranous nephropathy caused by malignancy, systemic lupus erythematosus, drugs, or infection. Includes membranous nephropathy associated with autoantibodies to the phospholipase A2 receptor1. 900000000000017005 +3330779019 20180731 0 900000000000207008 722119002 en 900000000000550004 Glomerulonephritis with electron dense deposits in the glomerular baseement membrane; after exclusion of membranous nephropathy caused by malignancy, systemic lupus erythematosus, drugs, or infection. Includes membranous nephropathy associated with autoantibodies to the phospholipase A2 receptor1. 900000000000017005 +3330782012 20170131 1 900000000000207008 722120008 en 900000000000550004 Glomerulonephritis with electron dense deposits in the glomerular baseement membrane, associated with treatment with a drug known to be associated with membranous nephropathy and after exclusion of alternative causes. 900000000000017005 +3330799013 20170131 1 900000000000207008 722122000 en 900000000000550004 This syndrome has characteristics of tall stature, learning difficulties and facial dysmorphism. So far, it has been described in six families. The syndrome is caused by mutations in the RNF135 (ring finger protein 135) gene. 900000000000017005 +3330812011 20170131 1 900000000000207008 722125003 en 900000000000550004 A disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with hemolytic anemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of hemolytic anemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex. 900000000000017005 +3330813018 20170131 1 900000000000207008 722125003 en 900000000000550004 A disorder of red cell membrane permeability to monovalent cations and is characterised clinically by haemolytic anaemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with haemolytic anaemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of haemolytic anaemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex. 900000000000017005 +3330825015 20170131 1 900000000000207008 722127006 en 900000000000550004 Pacman dysplasia has characteristics of epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. The syndrome may be inherited as an autosomal recessive trait. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal. 900000000000017005 +3330852013 20170131 1 900000000000207008 722132007 en 900000000000550004 PAGOD syndrome is a severe developmental syndrome with characteristics of multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Since the first publication in 1991, only 11 patients have been described. Neonates with PAGOD syndrome present with several visceral anomalies: hypoplasia of right or left lung, diaphragmatic hernia, omphalocele, various cardiac anomalies including, amongst others atrial septal defect, left ventricular hypoplasia or ventricular septal defect and great vessels anomalies such as aortic hypoplasia and pulmonary artery hypoplasia or atresia. Cardiac and mediastinal structures may be in dextroposition. Ambiguous external genitalia can be observed in some cases and all patient’s present gonadal agenesis or hypoplasia and developmental anomalies of Wolffian and Mullerian duct structures. Vitamin A deficiency has been suggested to play a role in the development of the syndrome. Almost all cases are sporadic. 900000000000017005 +3330852013 20210131 0 900000000000207008 722132007 en 900000000000550004 PAGOD syndrome is a severe developmental syndrome with characteristics of multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Since the first publication in 1991, only 11 patients have been described. Neonates with PAGOD syndrome present with several visceral anomalies: hypoplasia of right or left lung, diaphragmatic hernia, omphalocele, various cardiac anomalies including, amongst others atrial septal defect, left ventricular hypoplasia or ventricular septal defect and great vessels anomalies such as aortic hypoplasia and pulmonary artery hypoplasia or atresia. Cardiac and mediastinal structures may be in dextroposition. Ambiguous external genitalia can be observed in some cases and all patient’s present gonadal agenesis or hypoplasia and developmental anomalies of Wolffian and Mullerian duct structures. Vitamin A deficiency has been suggested to play a role in the development of the syndrome. Almost all cases are sporadic. 900000000000017005 +3330866015 20170131 1 900000000000207008 722139003 en 900000000000550004 Focal and segmental glomerulosclerosis in association with long-term treatment with lithium carbonate, after exclusion of alternative causes. 900000000000017005 +3330889011 20170131 1 900000000000207008 722147003 en 900000000000550004 Focal and segmental glomerulosclerosis in a patient with sickle cell disease. 900000000000017005 +3330896013 20170131 1 900000000000207008 722149000 en 900000000000550004 Chronic kidney disease developing as a result of removal of kidney tissue (including partial nephrectomy and radical nephrectomy) for the treatment of renal tumor. 900000000000017005 +3330902015 20170131 1 900000000000207008 722149000 en 900000000000550004 Chronic kidney disease developing as a result of removal of kidney tissue (including partial nephrectomy and radical nephrectomy) for the treatment of renal tumour. 900000000000017005 +3330906017 20170131 1 900000000000207008 722150000 en 900000000000550004 Chronic kidney disease associated with chronic infection. 900000000000017005 +3330961012 20170131 1 900000000000207008 722168002 en 900000000000550004 Glomerulonephritis with electron dense deposits in the glomerular baseement membrane, associated with an infection known to cause membranous nephropath and after exclusion of alternative causes. 900000000000017005 +3330999017 20170131 1 900000000000207008 722183007 en 900000000000550004 The infusion of radioactive substances such as microspheres containing yttrium-90 (90Y), iodine-131 (131I) ethiodized oil, and similar agents into the hepatic artery. 900000000000017005 +3331034017 20170131 1 900000000000207008 722187008 en 900000000000550004 A status of immunization which is suboptimal for a person. 900000000000017005 +3331134015 20170131 1 900000000000207008 722201004 en 900000000000550004 An idiopathic developmental disorder with characteristics of median cleft of the upper lip, midline polyps of the facial skin and nasal mucosa and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Presents at birth with a variable phenotype ranging from mild facial dysmorphism to more severe anomalies resembling frontonasal dysplasia. Normal neuropsychological development was reported in all but one case that presented with epileptic seizures. Sacral dimples may be observed at birth, and hypospadias has been reported in some male patients. 900000000000017005 +3331137010 20170131 1 900000000000207008 722202006 en 900000000000550004 This syndrome has characteristics of sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. 900000000000017005 +3331140010 20170131 1 900000000000207008 722203001 en 900000000000550004 A keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenar, hypothenar and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12. 900000000000017005 +3331141014 20170131 1 900000000000207008 722203001 en 900000000000550004 A keratinisation disorder characterised by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenar, hypothenar and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12. 900000000000017005 +3331147013 20170131 1 900000000000207008 722205008 en 900000000000550004 This disease is a non-syndromic diffuse palmoplantar keratoderma resembling a mild form of mal de Meleda. So far, it has been described in 20 individuals.Transmission is autosomal recessive. Evidence suggests this disease is caused by homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21. 900000000000017005 +3331150011 20170131 1 900000000000207008 722206009 en 900000000000550004 This syndrome has characteristics of partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). The syndrome appears to be inherited as an autosomal dominant trait. 900000000000017005 +3331154019 20170131 1 900000000000207008 722207000 en 900000000000550004 This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. It has been described in four children, three boys and one girl, from two consanguineous families. The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit. Transmission is autosomal recessive. 900000000000017005 +3331155018 20170131 1 900000000000207008 722207000 en 900000000000550004 This syndrome is characterised by exocrine pancreatic insufficiency, dyserythropoietic anaemia, and calvarial hyperostosis. It has been described in four children, three boys and one girl, from two consanguineous families. The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit. Transmission is autosomal recessive. 900000000000017005 +3331162010 20170131 1 900000000000207008 722209002 en 900000000000550004 This syndrome has characteristics of intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition. 900000000000017005 +3331165012 20170131 1 900000000000207008 722210007 en 900000000000550004 Parastremmatic dwarfism is a very rare chondrodysplasia with characteristics of severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1). 900000000000017005 +3331168014 20170131 1 900000000000207008 722211006 en 900000000000550004 A very rare heart-hand syndrome that has characteristics of a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant although X-linked dominance could not be excluded. 900000000000017005 +3331174014 20170131 1 900000000000207008 722212004 en 900000000000550004 An extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder with characteristics of psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Combined oxidative phosphorylation deficiency-6 (COXPD6) is caused by hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. 900000000000017005 +3331176011 20170131 1 900000000000207008 722213009 en 900000000000550004 This syndrome has characteristics of X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood. 900000000000017005 +3331274015 20170131 1 900000000000207008 722231005 en 900000000000550004 Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip and mild micrognathia. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death. The syndrome appears to be inherited in an autosomal recessive manner. There is evidence the syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene on chromosome 2q37. 900000000000017005 +3331275019 20170131 1 900000000000207008 722231005 en 900000000000550004 Perlman syndrome is characterised principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip and mild micrognathia. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death. The syndrome appears to be inherited in an autosomal recessive manner. There is evidence the syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene on chromosome 2q37. 900000000000017005 +3331415012 20170131 1 900000000000207008 722280000 en 900000000000550004 Ackerman syndrome has characteristics of pyramidal molar roots and taurodontism associated with variable anomalies. It has been described in two generations of one family. Both parents and their six siblings had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers. 900000000000017005 +3331422016 20170131 1 900000000000207008 722281001 en 900000000000550004 This syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choana and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation. 900000000000017005 +3331423014 20170131 1 900000000000207008 722281001 en 900000000000550004 This syndrome combines agammaglobulinaemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choana and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinaemia due to a defect in early B-cell maturation. 900000000000017005 +3331428017 20170131 1 900000000000207008 722282008 en 900000000000550004 A developmental anomaly syndrome with characteristics of coloboma of the iris and optic nerve, facial dysmorphism (high forehead, micro retrognathia, low-set ears) intellectual deficit, agenesis of the corpus callosum, sensorineural hearing loss, skeletal anomalies and short stature. Caused by mutation in the IGBP1 gene. 900000000000017005 +3331430015 20170131 1 900000000000207008 722283003 en 900000000000550004 An extremely rare and fatal association syndrome with characteristics of absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline, agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. 900000000000017005 +3331434012 20170131 1 900000000000207008 722284009 en 900000000000550004 A very rare dysmorphic disorder with characteristics of hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. 900000000000017005 +3331450016 20170131 1 900000000000207008 722286006 en 900000000000550004 This syndrome has characteristics of auricular abnormalities and cleft lip with or without cleft palate. Only two cases have been reported in the literature. One of these cases also presented with myopia, nystagmus and retinal pigment abnormalities. 900000000000017005 +3331453019 20170131 1 900000000000207008 722287002 en 900000000000550004 Syndrome marked by the presence of a unilateral angioma on the face and autistic developmental problems with characteristics of language delay and atypical social interactions. So far, the syndrome has been described in four children. 900000000000017005 +3331458011 20170131 1 900000000000207008 722288007 en 900000000000550004 An extremely rare autosomal dominant immunological disorder with characteristics of variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty and osteoporosis/osteopenia. 900000000000017005 +3331466019 20170131 1 900000000000207008 722290008 en 900000000000550004 A rare genetic disorder with characteristics of lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. Prevalence of this disorder is not known. It is extremely rare with four individuals in one family identified to date. Development is reported to be normal in affected patients. Clinical signs include lymphadenopathy and splenomegaly, and development of recurrent sinopulmonary and significant mucocutaneous infections with the Herpes zoster and Herpes simplex viruses. The disorder is caused by germline homozygous mutations in the CASP8 gene (2q33-q34) involved in the execution phase of cell apoptosis. Carriers with a normal copy of the gene are asymptomatic. Biologically this syndrome has manifestations of slightly elevated double-negative T cells (DNTs) and defective Fas-mediated apoptosis of B, T, and NK lymphocytes. The pattern of inheritance appears to be autosomal recessive. 900000000000017005 +3331474018 20170131 1 900000000000207008 722292000 en 900000000000550004 A form of amyloidosis with characteristics of the accumulation and extensive visceral deposition of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. 900000000000017005 +3331477013 20170131 1 900000000000207008 722293005 en 900000000000550004 A polymorphic disorder with characteristics of ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. Disease onset occurs in adulthood from the ages of 30-40. Mild brain atrophy with cerebellum involvement is visible with magnetic resonance imaging. Caused by a mutation in the DNA methyltransferase (DNMT1) gene located on chromosome 19p13.2. It encodes an enzyme essential for the repression of transcriptional activity in numerous postmitotic cells. 900000000000017005 +3331481013 20170131 1 900000000000207008 722294004 en 900000000000550004 Syndrome with the association of Charcot-Marie-Tooth disease and nephropathy. So far, around 15 cases have been described. All patients had proteinuria at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. Caused by heterozygous mutation in the INF2 gene on chromosome 14q32. 900000000000017005 +3331486015 20170131 1 900000000000207008 722296002 en 900000000000550004 Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case. The syndrome has characteristics of premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. 900000000000017005 +3331493016 20170131 1 900000000000207008 722298001 en 900000000000550004 Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant. 900000000000017005 +3331536012 20170131 1 900000000000207008 722309000 en 900000000000550004 Neurodisability describes a group of congenital or acquired long-term conditions that are attributed to impairment of the brain and/or neuromuscular system and create functional limitations. 900000000000017005 +3331714012 20170131 1 900000000000207008 722369003 en 900000000000550004 Congenital nephrotic syndrome with evidence of diffuse mesangial sclerosis on histology or with DNA evidence of a genetic mutation associated with diffuse mesangial sclerosis. 900000000000017005 +3331739015 20170131 1 900000000000207008 722375007 en 900000000000550004 A very rare syndrome of congenital hypothyroidism with characteristics of thyroid dysgenesis, cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Only 8 patients from 6 families have been reported to date. Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled skin, persistent jaundice and umbilical hernia. All newborns have a cleft palate and spiky hair. The syndrome is due to homozygous loss-of-function missense mutations located within the forkhead domain of the FOXE1 gene (9q22), encoding thyroid transcription factor 2 (TTF-2). TTF-2 is expressed in the thyroid gland (as well as elsewhere like the tongue, epiglottis and palate) and is thought to play a crucial role in thyroid morphogenesis. The disease is inherited autosomal recessively. 900000000000017005 +3331744010 20170131 1 900000000000207008 722376008 en 900000000000550004 A rare inherited popliteal pterygium syndrome with characteristics of severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, genital abnormalities and additional ectodermal anomalies (absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period but survival into childhood has been reported. 900000000000017005 +3331749017 20170131 1 900000000000207008 722377004 en 900000000000550004 A familial syndrome characterized by gastrointestinal stromal tumors and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localization and the size of the tumors. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance. 900000000000017005 +3331750017 20170131 1 900000000000207008 722377004 en 900000000000550004 A familial syndrome characterised by gastrointestinal stromal tumours and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localisation and the size of the tumours. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumours is inherited in an autosomal dominant manner with incomplete penetrance. 900000000000017005 +3331754014 20170131 1 900000000000207008 722378009 en 900000000000550004 An extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, with the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. 900000000000017005 +3331759016 20170131 1 900000000000207008 722379001 en 900000000000550004 This syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. 900000000000017005 +3331760014 20170131 1 900000000000207008 722379001 en 900000000000550004 This syndrome is characterised by congenital cataract, generalised hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. 900000000000017005 +3331764017 20170131 1 900000000000207008 722380003 en 900000000000550004 Syndrome with the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Less than 20 cases have been described in the literature so far. Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears). Mutations in the RAB3GAP2 gene have been identified in some patients. Transmission is autosomal recessive. 900000000000017005 +3331768019 20170131 1 900000000000207008 722381004 en 900000000000550004 A lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits and postmortem confirmation of nephropathy (renal tubular necrosis). The combination has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963. 900000000000017005 +3331771010 20170131 1 900000000000207008 722382006 en 900000000000550004 The association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life. The syndrome can be associated with other rare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly. Transmission is in most cases autosomal dominant, but cases of autosomal recessive transmission have recently been described. There is marked genetic heterogeneity. Mutations have been described in several crystallin genes (CRYAA, CRYBB1, CRYGD), and in the gap junction protein alpha 8 gene (GJA8). 900000000000017005 +3331782019 20170131 1 900000000000207008 722383001 en 900000000000550004 A rare bone disease with anomaly of both index fingers (accessory ossicle at the metacarpophalangeal joint with resulting ulnar deviation) and typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication. Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in this syndrome. Transmission is autosomal recessive. Genetic counseling is recommended. 900000000000017005 +3331787013 20170131 1 900000000000207008 722385008 en 900000000000550004 A neurocutaneous syndrome with characteristics of severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. It has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families. Clinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. It is caused by mutations in the SNAP29 gene (22q11.2) that encodes a SNARE protein involved in vesicle fusion. The disease is inherited as an autosomal recessive condition. 900000000000017005 +3331801015 20170131 1 900000000000207008 722386009 en 900000000000550004 A rare disorder characterized by the combination of autoimmune intestinal disease, epileptic seizures and cerebral calcifications. Celiac disease and epilepsy manifest at a variable age. Celiac disease can present in a typical form with onset in the first 2 years of life. Celiac disease may also present in silent or latent forms, which are characterized in the absence of gastrointestinal symptoms, by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. Epilepsy onset is between infancy and adulthood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. It is not known if epilepsy and/or cerebral calcifications are a consequence of celiac disease. This syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes. 900000000000017005 +3331802010 20170131 1 900000000000207008 722386009 en 900000000000550004 A rare disorder characterised by the combination of autoimmune intestinal disease, epileptic seizures and cerebral calcifications. Coeliac disease and epilepsy manifest at a variable age. Coeliac disease can present in a typical form with onset in the first 2 years of life. Coeliac disease may also present in silent or latent forms, which are characterised in the absence of gastrointestinal symptoms, by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. Epilepsy onset is between infancy and adulthood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. It is not known if epilepsy and/or cerebral calcifications are a consequence of coeliac disease. This syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes. 900000000000017005 +3331814019 20170131 1 900000000000207008 722389002 en 900000000000550004 An extremely rare autosomal recessive disorder with characteristics of bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears) and strabismus. 900000000000017005 +3331823016 20170131 1 900000000000207008 722390006 en 900000000000550004 Syndrome with the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. The clinical presentation of the reported cases is rather heterogeneous with variable manifestations including intrauterine growth retardation, hepatosplenomegaly, cerebellar hypoplasia or atrophy and congenital cataract. The cause remains unknown. Several familial cases, compatible with an autosomal recessive pattern of inheritance have been described. 900000000000017005 +3331826012 20170131 1 900000000000207008 722391005 en 900000000000550004 A rare skin disorder characterized by erythrodermic peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. 900000000000017005 +3331827015 20170131 1 900000000000207008 722391005 en 900000000000550004 A rare skin disorder characterised by erythrodermic peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhoea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. 900000000000017005 +3331833012 20170131 1 900000000000207008 722392003 en 900000000000550004 An exceedingly rare genetic gastroenterological disease characterized by severe malabsorption diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration and severe diarrhea unresponsive to various nutrients and formulas and require home parenteral nutrition. The syndrome is also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development. 900000000000017005 +3331834018 20170131 1 900000000000207008 722392003 en 900000000000550004 An exceedingly rare genetic gastroenterological disease characterised by severe malabsorption diarrhoea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration and severe diarrhoea unresponsive to various nutrients and formulas and require home parenteral nutrition. The syndrome is also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development. 900000000000017005 +3331863015 20170131 1 900000000000207008 722401001 en 900000000000550004 Severe fever with thrombocytopenia syndrome (SFTS) is a newly emerging infectious disease. 900000000000017005 +3331972012 20170131 1 900000000000207008 722424008 en 900000000000550004 A service of medicine focused on restoring health and functional abilities after acute illness or injury. 900000000000017005 +3331973019 20170131 1 900000000000207008 722423002 en 900000000000550004 A speciality of medicine focused on restoring health and functional abilities after acute illness or injury. 900000000000017005 +3331984014 20170131 1 900000000000207008 274864009 en 900000000000550004 Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes. 900000000000017005 +3331988012 20170131 1 900000000000207008 722302009 en 900000000000550004 Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal. 900000000000017005 +3332002011 20170131 1 900000000000207008 722343009 en 900000000000550004 Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes. 900000000000017005 +3332003018 20170131 1 900000000000207008 722343009 en 900000000000550004 Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterised by an accumulation of glycogen in lysosomes. 900000000000017005 +3332023017 20170131 1 900000000000207008 722285005 en 900000000000550004 Syndrome with characteristics of congenital nerve deafness and piebaldness without ocular albinism. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. 900000000000017005 +3332027016 20170131 1 900000000000207008 722429003 en 900000000000550004 Syndrome with a combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. It has been reported in four patients; two of them were siblings and had moderate intellectual deficiency. Two non-related subjects also had severe myopia, bilateral conductive hearing loss and a renal change, referred to as oligomeganephronia, or renal hypoplasia. A 10q24 duplication or triplication was detected in all these patients, similar to the duplication detected in an isolated form of split hand foot malformation. 900000000000017005 +3332031010 20170131 1 900000000000207008 721158009 en 900000000000550004 Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly and significant cardiac defects. Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. 900000000000017005 +3332038016 20170131 1 900000000000207008 722430008 en 900000000000550004 Distal trisomy of the short arm of chromosome 6 has characteristics of pre and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. The duplicated region almost always includes 6pter, with proximal breakpoints ranging from 6p21 to 6p25. Interstitial duplications of 6p have also been reported with different phenotypes depending on their size and location. Most cases of distal trisomy 6p result from missegregation of a familial balanced translocation, or pericentric inversion, and are accompanied by another chromosomal imbalance. Intrachromosomal duplications or de novo translocations are also observed. 900000000000017005 +3332043011 20170131 1 900000000000207008 722431007 en 900000000000550004 A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. 900000000000017005 +3332044017 20170131 1 900000000000207008 722431007 en 900000000000550004 A rare congenital urogenital anomaly characterised by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhoea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. 900000000000017005 +3332048019 20170131 1 900000000000207008 722432000 en 900000000000550004 Syndrome with the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of siblings. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. 900000000000017005 +3332051014 20170131 1 900000000000207008 722433005 en 900000000000550004 The association of short stature due to mesomelic shortening of the limbs and Madelung deformity with hereditary nephritis. The syndrome was originally described in male and female members from four generations of one large kindred. The females appeared to be more severely affected than the males, with a sex ratio (female to male) of 4:1. The skeletal anomalies closely resembled those of Leri-Weill dyschondrosteosis. The mode of transmission was reported as autosomal dominant. 900000000000017005 +3332054018 20170131 1 900000000000207008 722434004 en 900000000000550004 A rare skeletal dysplasia with characteristics of anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. 900000000000017005 +3332058015 20170131 1 900000000000207008 722435003 en 900000000000550004 A very rare movement disorder with characteristics of early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. Disease presents in infancy to late childhood with one of two possible phenotypes: either generalized dystonia or dystonia-parkinsonism not responsive to L-Dopa. Dystonia usually starts in one limb, becomes generalized and mainly affects the trunk, neck and oromandibular muscles. Motor and speech developmental delays were also reported. The phenotypic spectrum of this disease is still being determined. Caused by mutations in the protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA) gene, located on chromosome 2q31.2. Inherited in an autosomal recessive manner. 900000000000017005 +3332059011 20170131 1 900000000000207008 722435003 en 900000000000550004 A very rare movement disorder with characteristics of early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. Disease presents in infancy to late childhood with one of two possible phenotypes: either generalised dystonia or dystonia-parkinsonism not responsive to L-Dopa. Dystonia usually starts in one limb, becomes generalised and mainly affects the trunk, neck and oromandibular muscles. Motor and speech developmental delays were also reported. The phenotypic spectrum of this disease is still being determined. Caused by mutations in the protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA) gene, located on chromosome 2q31.2. Inherited in an autosomal recessive manner. 900000000000017005 +3332063016 20170131 1 900000000000207008 722436002 en 900000000000550004 A rare subtype of dystrophic epidermolysis bullosa that shows no blistering and that has characteristics of dystrophic or absent nails. Prevalence is unknown. Approximately ten families have been reported to date. However, this variant may be overlooked because of negligible clinical implications. Onset is usually at birth or during infancy. Except from nail involvement, no other cutaneous or extracutaneous symptoms are observed. Nail deformity is often limited to toenails that can appear thickened and shortened. Caused by mutations within the type VII collagen gene (COL7A1). It usually follows an autosomal dominant pattern of inheritance. One family with an autosomal recessive inheritance has also been reported. 900000000000017005 +3332065011 20170131 1 900000000000207008 721207002 en 900000000000550004 Syndrome with characteristics of seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. It has been described in five patients from four families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Transmission is autosomal recessive. 900000000000017005 +3332069017 20170131 1 900000000000207008 721208007 en 900000000000550004 Syndrome with characteristics of intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait. 900000000000017005 +3332073019 20170131 1 900000000000207008 722437006 en 900000000000550004 This syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive. 900000000000017005 +3332074013 20170131 1 900000000000207008 722437006 en 900000000000550004 This syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalised tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive. 900000000000017005 +3332085010 20170131 1 900000000000207008 722439009 en 900000000000550004 A very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy and iris hypoplasia. There is evidence this syndrome is caused by heterozygous mutation in the MIR184 gene on chromosome 15q25. 900000000000017005 +3332177016 20170131 1 900000000000207008 721297008 en 900000000000550004 The association of nephrotic syndrome with central nervous system anomalies. Approximately 40 cases have been reported since it was first described in 1968 in two siblings with early-onset nephrotic syndrome, microcephaly and hiatus hernia. Renal biopsy may show minimal glomerular lesions, mesangial proliferation, focal segmental hyalinosis or diffuse mesangial sclerosis. Neurological symptoms include microcephaly, psychomotor retardation, convulsions, hypotonia, abnormal cerebral gyri and sulci, cortical atrophy, hydrocephalus due to aqueductal stenosis, porencephaly or encephalomalacia. Histological analyses reveal anomalies of neuron migration. Facial dysmorphology and large ears have been reported as well as hiatus hernia, which is responsible for vomiting after the first feed. There is evidence that this syndrome is caused by homozygous mutation in the WDR73 gene (616144) on chromosome 15q25. 900000000000017005 +3332181016 20170131 1 900000000000207008 721843003 en 900000000000550004 A multiple congenital anomalies syndrome. Approximately 38 patients have been reported in literature since the first description in 1947. Patients have a short stature and a typical facies. Scalp hair may be primarily present but disappears after the first months of life leading to complete or partial alopecia. Eyebrows and/or eyelashes are sparse. Primary and permanent teeth are formed but fail to erupt. Ocular manifestations may include progressive optic atrophy, glaucoma and strabismus. Otorhinolaryngologic features include choanal atresia and deafness. Patients have a mild intellectual deficit. Some patients have also been reported with umbilical hernia, hyperextensible joints, osseous anomalies and cutaneous manifestations. Homozygous nonsense or splicing mutations in the ANTXR1 gene, encoding anthrax toxin receptor 1 cause GAPO Syndrome. 900000000000017005 +3332185013 20170131 1 900000000000207008 722449007 en 900000000000550004 This syndrome has characteristics of gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. 900000000000017005 +3332190011 20170131 1 900000000000207008 722450007 en 900000000000550004 Syndrome with characteristics of progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. 900000000000017005 +3332195018 20170131 1 900000000000207008 722451006 en 900000000000550004 Syndrome that may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported. 900000000000017005 +3332196017 20170131 1 900000000000207008 722451006 en 900000000000550004 Syndrome that may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anaesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported. 900000000000017005 +3332199012 20170131 1 900000000000207008 722452004 en 900000000000550004 An extremely rare syndrome with characteristics of hypoplastic thumbs and halluces, fifth finger brachydactyly, postaxial polydactyly of the hands, short or uniphalangeal second toes with absent nails and hypospadias. It has been described in a father and his son and daughter. The affected patients have normal mental development. Except for postaxial polydactyly of the hands and uniphalangeal second toes with absent nails, features are in common with hand-foot-genital syndrome caused by mutations in the HOXA13 gene. In all three affected individuals, two different sequence alterations were identified in HOXA13 gene: a de novo missense mutation and a deletion in the promoter region of the gene, inherited from an unaffected parent, which may contribute to the phenotype in the affected individuals. The condition is inherited in an autosomal dominant manner. 900000000000017005 +3332203012 20170131 1 900000000000207008 722453009 en 900000000000550004 Syndrome with the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. 900000000000017005 +3332206016 20170131 1 900000000000207008 722454003 en 900000000000550004 This syndrome has characteristics of moderate intellectual deficit, craniofacial dysmorphism, hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait. 900000000000017005 +3332211019 20170131 1 900000000000207008 722455002 en 900000000000550004 This syndrome has characteristics of hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive. 900000000000017005 +3332216012 20170131 1 900000000000207008 722456001 en 900000000000550004 A severe X-linked recessive neurodevelopmental disorder with the association of arthrogryposis multiplex congenita and intellectual disability. The syndrome has been reported in 5 families to date, with fewer than 30 affected individuals described. Affected patients are male, while carrier females are often asymptomatic. Facial weakness (ptosis) and bulbar weakness (feeding difficulty), characteristic dysmorphic facial and skeletal abnormalities have been reported. Other neurological signs may include spasticity and seizures. Heterozygous female carriers may also be affected, but to a lesser degree (intellectual disability, distal muscle weakness, camptodactyly, joint contractures, and pes equinovarus). Caused by mutations in the ZC4H2 gene (Xq11.1) that is presumed to play a role in neuronal function during fetal growth. 900000000000017005 +3332219017 20170131 1 900000000000207008 722457005 en 900000000000550004 An extremely rare autosomal dominant association reported in a single Swiss family with clinical characteristics of juvenile cataract associated with bilateral microcornea and renal glucosuria without other renal tubular defects. 900000000000017005 +3332224019 20170131 1 900000000000207008 722458000 en 900000000000550004 A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Only five cases have been reported so far, two of who were siblings. In the three nonfamilial cases, unilateral pulmonary agenesis and microphthalmia were associated with diaphragmatic hernia and pulmonary vessel agenesis. It has been suggested that two different entities can be distinguished: on one hand, the association of anophthalmia-pulmonary hypoplasia with/without anomalies of the face, heart, spleen and uterus, which may be due to a putative autosomal recessive gene with pleiotropic effects; on the other hand, a sporadic association including pulmonary hypoplasia, anophthalmia, unilateral diaphragmatic defect and agenesis of the pulmonary trunk, which may represent the expression of a developmental field defect. There is evidence that syndromic microphthalmia- is caused by homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24. 900000000000017005 +3332228016 20170131 1 900000000000207008 722459008 en 900000000000550004 This syndrome has characteristics of hypergonadotropic hypogonadism, intellectual deficit, and congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. It has been described in two brothers. Testicular biopsy revealed germinal aplasia and complete seminiferous tubular fibrosis. 900000000000017005 +3332236013 20170131 1 900000000000207008 722461004 en 900000000000550004 A multiple malformation syndrome with characteristics of congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Less than 15 patients have been reported worldwide. Ambiguous or female external genitalia are present in individuals with 46,XY karyotype. The genital abnormalities are variable and may include a true double vagina or septate vagina, absent uterus, abnormal male gonads in the presence of normal external female genitalia or male pseudohermaphroditism with abnormal internal female genitalia. Complex cyanotic congenital heart defects, (hypoplastic right lungs, anomalous pulmonary venous return and abnormalities of the diaphragm) are frequent. One patient with rhabdomyomatous dysplasia of the lungs has been reported. Mutations in the WT1 gene have been identified in some patients with Meacham syndrome. All patients reported to date died in early childhood. 900000000000017005 +3332243019 20170131 1 900000000000207008 722463001 en 900000000000550004 Syndrome with the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. 900000000000017005 +3332278019 20170131 1 900000000000207008 722468005 en 900000000000550004 Inherited distal renal tubular acidosis combined with sensorineural deafness. 900000000000017005 +3332322017 20170131 1 900000000000207008 722475006 en 900000000000550004 A rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. The disease affects mainly males as females are usually asymptomatic or have only mild symptoms. It presents in infancy or in neonates (in severe cases) with patients bruising easily along with further manifestations of thrombocytopenia. The disease is caused by mutations in the GATA1 (Xp11.23) gene encoding GATA1, a transcriptional regulator involved in erythropoiesis and megakaryocytopoiesis. Different mutations found in this gene account for a variable phenotypic spectrum of disorders. 900000000000017005 +3332323010 20170131 1 900000000000207008 722475006 en 900000000000550004 A rare haematological disorder, seen almost exclusively in males, characterised by moderate to severe thrombocytopenia with haemorrhages with or without the presence of mild to severe anaemia. The disease affects mainly males as females are usually asymptomatic or have only mild symptoms. It presents in infancy or in neonates (in severe cases) with patients bruising easily along with further manifestations of thrombocytopenia. The disease is caused by mutations in the GATA1 (Xp11.23) gene encoding GATA1, a transcriptional regulator involved in erythropoiesis and megakaryocytopoiesis. Different mutations found in this gene account for a variable phenotypic spectrum of disorders. 900000000000017005 +3332327011 20170131 1 900000000000207008 722476007 en 900000000000550004 Syndrome with characteristics of microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. 900000000000017005 +3332331017 20170131 1 900000000000207008 722477003 en 900000000000550004 A multiple congenital anomaly syndrome with characteristics of craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. Main clinical signs include telecanthus, short palpebral fissures, small nose with anteverted nares, Pierre Robin sequence, abnormally shaped ears, redundant neck skin and features of midline structural abnormalities with agenesis of corpus callosum, laryngeal anomalies and congenital heart defects. Short hands and hypotonia may also be observed. Patients have a moderate to severe intellectual disability. There is evidence that this is a heterogeneous condition, with chromosome anomalies identified in approximately 20%, and at least two candidate genes identified: MN1 (22q12.1) which has been reported in a microdeletion and SATB2 (2q33.1), interrupted by a de novo balanced translocation in another patient. 900000000000017005 +3332334013 20170131 1 900000000000207008 722478008 en 900000000000550004 This syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked. 900000000000017005 +3332337018 20170131 1 900000000000207008 722479000 en 900000000000550004 Patient position with neutral neck position; to indicate that a patient has been positioned for a procedure with the absence of flexion, extension or rotation of the neck. 900000000000017005 +3332425016 20170131 1 900000000000207008 722781002 en 900000000000550004 Aphthous ulcers of the mouth that are recurrent. 900000000000017005 +3332447016 20170131 1 900000000000207008 722488009 en 900000000000550004 Disease with characteristics of delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase which is caused by homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. 900000000000017005 +3332461014 20170131 1 900000000000207008 12271241000119109 en 900000000000550004 KP Donation 900000000000017005 +3332461014 20170731 0 900000000000207008 12271241000119109 en 900000000000550004 KP Donation 900000000000017005 +3332474015 20170131 1 900000000000207008 722302009 en 900000000000550004 Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterised by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal. 900000000000017005 +3332487014 20170131 1 900000000000207008 722493007 en 900000000000550004 A clinical entity that can present as variable anomalies of the caudal pole. It has been described in four siblings and their father's half-sister. The first sibling had aberrant umbilical cord vasculature with a single umbilical artery near the placental insertion. Two of the siblings showed full sirenomelia, one with a complex congenital heart defect. The fourth case had an imperforate anus and an excessively long umbilical cord. The half-sister had an imperforate anus, rectovaginal fistula and genitourinary anomalies. The syndrome appears to be expressed as a dominant trait with reduced penetrance and variable expressivity. 900000000000017005 +3332490015 20170131 1 900000000000207008 722494001 en 900000000000550004 A person who habitually uses nicotine, whether by smoking or other delivery system (such as electronic cigarette). 900000000000017005 +3332507014 20170131 1 900000000000207008 722066001 en 900000000000550004 A rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance and absent or reduce cone responses on electroretinography but normal color vision. The syndrome is very rare with only 14 cases reported in the literature so far. The causative gene has not been identified. The reason for the presence of normal color vision despite the reduced visual acuity and electrophysiological evidence of severe cone dysfunction is uncertain. It has been proposed that patients may have reduced numbers of normal functioning cones with preservation of the three cone types in normal proportions thereby enabling normal color vision. 900000000000017005 +3332509012 20170131 1 900000000000207008 722066001 en 900000000000550004 A rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance and absent or reduce cone responses on electroretinography but normal colour vision. The syndrome is very rare with only 14 cases reported in the literature so far. The causative gene has not been identified. The reason for the presence of normal colour vision despite the reduced visual acuity and electrophysiological evidence of severe cone dysfunction is uncertain. It has been proposed that patients may have reduced numbers of normal functioning cones with preservation of the three cone types in normal proportions thereby enabling normal colour vision. 900000000000017005 +3333166017 20170131 1 900000000000207008 722721004 en 900000000000550004 Haemolytic uraemic syndrome with either a family history of haemolytic uraemic syndrome or a genetic mutation known to cause haemolytic uraemic syndrome, or both. 900000000000017005 +3333167014 20170131 1 900000000000207008 722721004 en 900000000000550004 Hemolytic uremic syndrome with either a family history of haemolytic uremic syndrome or a genetic mutation known to cause haemolytic uremic syndrome, or both. 900000000000017005 +3333167014 20210731 0 900000000000207008 722721004 en 900000000000550004 Hemolytic uremic syndrome with either a family history of haemolytic uremic syndrome or a genetic mutation known to cause haemolytic uremic syndrome, or both. 900000000000017005 +3333203015 20170131 1 900000000000207008 10743271000119103 en 900000000000550004 A clinical disease characterized by elevated serum IgG4 concentration and tumefaction or tissue infiltration by IgG4-positive plasma cells. 900000000000017005 +3333204014 20170131 1 900000000000207008 10743271000119103 en 900000000000550004 A clinical disease characterised by elevated serum IgG4 concentration and tumefaction or tissue infiltration by IgG4-positive plasma cells. 900000000000017005 +3333370016 20170131 1 900000000000207008 722675000 en 900000000000550004 LOC syndrome is a subtype of junctional epidermolysis bullosa with characteristics of an altered cry in the neonatal period and aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Fewer than 50 cases have been reported to date, mostly in consanguineous families from the Punjabi region of Pakistan and India. The condition is present at birth. The condition is associated with mutations in the alpha-3 chain of laminin-332 (LAMA3). Follows an autosomal recessive pattern of inheritance. Prognosis is poor. 900000000000017005 +3333386011 20170131 1 900000000000207008 722762005 en 900000000000550004 Disease with characteristics of recurrent seizures and profound disruption of brain development. Onset is within the first few weeks after birth. The seizures tend to be refractory to treatment. Most affected children have severe intellectual disability. Vision and hearing may be normal at birth but become impaired as the disease progresses. Some affected individuals have changes in skin pigmentation. Mutations in the ST3GAL5 gene have been found to cause GM3 synthase deficiency. This gene provides instructions for the enzyme GM3 synthase, which carries out a chemical reaction that is the first step in the production of gangliosides. ST3GAL5 gene mutations prevent the production of any functional GM3 synthase. Without this enzyme, cells cannot produce gangliosides normally. 900000000000017005 +3333391012 20170131 1 900000000000207008 722763000 en 900000000000550004 An extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. The prevalence is unknown. The disease presents soon after birth with irritability and feeding difficulties, followed by progressive parkinsonism, dystonia, axial hypotonia, limb hypertonicity and pyramidal tract signs. Clinically it can resemble cerebral palsy. Caused by mutations in the SLC6A3 gene (5p15.33), which encodes a human dopamine transporter mediating the active reuptake of extracelluar dopamine. Mutations in this gene lead to a reduction in the level of mature dopamine transporter and therefore an impairment in dopaminergic neurotransmission. Inherited in an autosomal recessive manner. 900000000000017005 +3333623011 20170131 1 900000000000207008 417640000 en 900000000000550004 A technique that consists of intermittent compression of the thoracic cage. 900000000000017005 +3334396012 20170131 1 900000000000207008 13144005 en 900000000000550004 An inherited disorder of leucine metabolism with characteristics of a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Patients have a variable clinical phenotype with the vast majority of patients being asymptomatic and a small subgroup displaying symptoms of an organic aciduria, usually in association with environmental triggering factors. This disease is due to mutations in the MCCC1 (3q27.1) or MCCC2 (5q12-q13) genes. Mutations in these genes lead to reduced or absent 3-MCC activity, thereby allowing the toxic byproducts of leucine processing to build up and cause clinical symptoms. Inherited autosomal recessively. 900000000000017005 +3334443016 20170131 1 900000000000207008 708673009 en 900000000000550004 Inability of the brain to properly identify an odors natural smell. 900000000000017005 +3334444010 20170131 1 900000000000207008 708673009 en 900000000000550004 Inability of the brain to properly identify an odours natural smell. 900000000000017005 +3334492010 20170131 1 900000000000207008 723074006 en 900000000000550004 Renal papillary necrosis in a patient with type 1 or type 2 diabetes. 900000000000017005 +3334864010 20170131 1 900000000000207008 12601000132105 en 900000000000550004 Meets clinical case definition and has supportive or presumptive laboratory results that are consistent with the diagnosis, yet do not meet the criteria for laboratory confirmation. 900000000000017005 +3334866012 20170131 1 900000000000207008 12591000132100 en 900000000000550004 Meets clinical case definition; signs and symptoms with are consistent or compatible with a particular disease. 900000000000017005 +3335133019 20170131 1 900000000000207008 723231001 en 900000000000550004 Diagnosis and treatment by an osteopathic practitioner using the primary respiratory mechanism and balanced membranous tension. 900000000000017005 +3335135014 20170131 1 900000000000207008 713351000 en 900000000000550004 Multi Drug Resistance (MDR) is defined as non-susceptibility to at least one agent in three or more epidemiologically significant antimicrobial categories. Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. (DOI: 10.1111/j.1469-0691.2011.03570.x) 900000000000017005 +3335139015 20170131 1 900000000000207008 714789002 en 900000000000550004 Extensive drug resistance (XDR) is defined as non-susceptibility to at least one agent in all but two or fewer epidemiologically significant antimicrobial categories. Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. (DOI: 10.1111/j.1469-0691.2011.03570.x) 900000000000017005 +3335140018 20170131 1 900000000000207008 714792003 en 900000000000550004 Pandrug resistance (PDR) is defined as non-susceptibility to all agents in all epidemiologically significant antimicrobial categories (i.e. no agents tested as susceptible for that organism). Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. (DOI: 10.1111/j.1469-0691.2011.03570.x) 900000000000017005 +3335210012 20170131 1 900000000000207008 723232008 en 900000000000550004 An aggregated blood pressure that refers to an average over multiple cardiac cycles, e.g. over 24 hours 900000000000017005 +3335211011 20170131 1 900000000000207008 386533006 en 900000000000550004 A blood pressure which is observed by an invasive procedure, one that involves entry into a patient such as inserting a cannula needle in an artery 900000000000017005 +3335212016 20170131 1 900000000000207008 723235005 en 900000000000550004 An aggregated blood pressure that refers to the maximum over multiple cardiac cycles, e.g. over 24 hours 900000000000017005 +3335213014 20170131 1 900000000000207008 6797001 en 900000000000550004 A blood pressure that refers to the average over a cardiac cycle 900000000000017005 +3335214015 20170131 1 900000000000207008 723236006 en 900000000000550004 An aggregated blood pressure that refers to the minimum over multiple cardiac cycles, e.g. over 24 hours 900000000000017005 +3335216018 20170131 1 900000000000207008 723237002 en 900000000000550004 A blood pressure which is observed by a non-invasive procedure, one that does not involve entry into a patient such using as a pressure cuff 900000000000017005 +3335217010 20170131 1 900000000000207008 251079001 en 900000000000550004 A blood pressure observable where placement of several pneumatic cuffs on the limbs determine the pressure at multiple locations in efforts to localize arterial occlusions 900000000000017005 +3335218017 20170131 1 900000000000207008 446841001 en 900000000000550004 Merriam-Webster: a measure of the difference in the systolic blood pressure of the arm and ankle calculated by dividing the blood pressure of the ankle by that of the arm 900000000000017005 +3335219013 20170131 1 900000000000207008 707205007 en 900000000000550004 A measure of the difference in the systolic blood pressure of the arm and toe calculated by dividing the blood pressure of the toe by that of the arm 900000000000017005 +3335220019 20170131 1 900000000000207008 87179004 en 900000000000550004 Merriam-Webster: The pressure that is characteristic of the arterial pulse and represents the difference between diastolic and systolic blood pressures of the heart cycle 900000000000017005 +3423990010 20170731 1 900000000000207008 723304001 en 900000000000550004 This syndrome has characteristics of intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures and skeletal anomalies. It has been described in two males. 900000000000017005 +3423997013 20170731 1 900000000000207008 723306004 en 900000000000550004 Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. 900000000000017005 +3423998015 20170731 1 900000000000207008 723306004 en 900000000000550004 Facial onset sensory and motor neuronopathy is characterized initially by paresthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. 900000000000017005 +3424001012 20170731 1 900000000000207008 723307008 en 900000000000550004 Disease defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging abnormalities. The disease manifests at birth or in the first few months of life. Caused by mutations in the ETHE1 gene (chromosome 19q13). The disease is inherited in an autosomal recessive manner. 900000000000017005 +3424002017 20170731 1 900000000000207008 723307008 en 900000000000550004 Disease defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging abnormalities. The disease manifests at birth or in the first few months of life. Caused by mutations in the ETHE1 gene (chromosome 19q13). The disease is inherited in an autosomal recessive manner. 900000000000017005 +3424006019 20170731 1 900000000000207008 723308003 en 900000000000550004 A basal subtype of epidermolysis bullosa simplex characterized by generalized blistering associated with muscular dystrophy. Onset of blistering is usually as early as birth, muscular dystrophy manifests between infancy and adulthood. Blisters are often hemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present. Caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies. Transmission is autosomal recessive. 900000000000017005 +3424007011 20170731 1 900000000000207008 723308003 en 900000000000550004 A basal subtype of epidermolysis bullosa simplex characterised by generalised blistering associated with muscular dystrophy. Onset of blistering is usually as early as birth, muscular dystrophy manifests between infancy and adulthood. Blisters are often haemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present. Caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies. Transmission is autosomal recessive. 900000000000017005 +3424013019 20170731 1 900000000000207008 723309006 en 900000000000550004 Syndrome with characteristics of various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Six cases from consanguineous parents have been described. Endocrine anomalies include hypoplasia of the adrenal and pituitary glands. Skeletal anomalies include micromelia, syndactyly, brachydactyly and ulnar deviation of hands. Facial anomalies, such as midface hypoplasia, micrognathia, and a flat and wide nasal bridge, are also observed. The disease is caused by mutations in the ICK gene, encoding an intestinal cell kinase. Transmission is autosomal recessive. 900000000000017005 +3424118013 20170731 1 900000000000207008 723332005 en 900000000000550004 A chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13. 900000000000017005 +3424119017 20170731 1 900000000000207008 723332005 en 900000000000550004 A chromosomal disorder with distinctive clinical findings characterised by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behaviour. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13. 900000000000017005 +3424123013 20170731 1 900000000000207008 723333000 en 900000000000550004 A very rare syndrome with characteristics of intellectual deficit, horseshoe kidney, and congenital heart defects. Four cases have been reported in the literature in two unrelated families. Dysmorphic features include plagiocephaly, malar hypoplasia, broad nasal bridge, poorly developed philtrum and nasal alae, cleft palate and hypodontia. Congenital heart defects were endocardial fibroelastosis in one family and prolapse of the tricuspid valve in the other. The condition is probably hereditary and transmitted as an autosomal recessive trait. 900000000000017005 +3424131015 20170731 1 900000000000207008 723334006 en 900000000000550004 A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis) and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance. 900000000000017005 +3424229016 20170731 1 900000000000207008 723359002 en 900000000000550004 A potentially fatal neurological disease with characteristics of neuropathological lesions principally involving the brainstem, thalamus and putamen. It has been described in 11 members of one family. Onset occurs during early childhood, typically a few days after a febrile illness. Manifestations include vomiting, seizures, spasticity, language regression, rigidity and abnormal posturing of the head. Residual neurologic impairment (muscle weakness, speech disturbance, intellectual deficit and mood disorders) persists in some patients. The disease is chronic in one out of two cases. The mode of transmission appears to be autosomal dominant with incomplete penetrance. 900000000000017005 +3424233011 20170731 1 900000000000207008 723360007 en 900000000000550004 A very rare genetic disorder with clinical characteristics of elevated serum bile acid concentrations, itching and fat malabsorption reported in patients of Old Order Amish descent. Can be caused by mutation in the TJP2 gene on chromosome 9q21, the BAAT gene on chromosome 9q31, or the EPHX1 gene on chromosome 1q42. 900000000000017005 +3424236015 20170731 1 900000000000207008 723361006 en 900000000000550004 A genodermatosis with characteristics of the presence of multiple hamartomas of the hair follicle. It has been described in one family so far. 900000000000017005 +3424240012 20170731 1 900000000000207008 723362004 en 900000000000550004 Disorder with characteristics of reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. Prevalence is unknown but numerous large pedigrees with several affected members have been described. Both men and women are equally affected. Hair loss is diffuse and progressive and usually begins during early childhood. Body hair may also be sparse with variable involvement of the eyebrows, eyelashes, and pubic and axillary hair. There are no anomalies of the skin, nails or teeth. A scalp-limited form has also been reported with mutations in the corneodesmosin (CDSN) gene. Both autosomal dominant and recessive modes of transmission have been reported for this disorder. 900000000000017005 +3424246018 20170731 1 900000000000207008 723363009 en 900000000000550004 An extremely rare syndromic lymphedema disorder characterized by four features which begin in early childhood and are progressive; hypotrichosis, lymphedema, variable telangiectasia particularly of the palms and renal defect. There is evidence that this syndrome is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13. 900000000000017005 +3424247010 20170731 1 900000000000207008 723363009 en 900000000000550004 An extremely rare syndromic lymphoedema disorder characterised by four features which begin in early childhood and are progressive; hypotrichosis, lymphoedema, variable telangiectasia particularly of the palms and renal defect. There is evidence that this syndrome is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13. 900000000000017005 +3424252017 20170731 1 900000000000207008 723364003 en 900000000000550004 A very rare syndrome that presents with short and sparse scalp hair from birth or the first months of life with no subsequent growth during life. During the first to third decades of life, visual acuity decreases because of progressive macular degeneration, leading in many cases to blindness between the second and fourth decades of life. The hair phenotype does not improve significantly with age, even though diffuse alopecia in infancy can evolve towards short and sparse hair in puberty. Caused by mutations in the CDH3 gene (16q22.1), encoding P-cadherin. P-cadherin is part of adherens junctions in various epithelia including the hair follicular epithelium. Inherited in an autosomal recessive pattern. 900000000000017005 +3424256019 20170731 1 900000000000207008 723365002 en 900000000000550004 Syndrome with characteristics of hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive. 900000000000017005 +3424259014 20170731 1 900000000000207008 723366001 en 900000000000550004 Syndrome that combines the features of macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It is described in nine members of a Brazilian family. It is a phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant. 900000000000017005 +3424266010 20170731 1 900000000000207008 723367005 en 900000000000550004 A very rare inherited connective tissue disorder with characteristics of macrocephaly, sparse scalp hair, soft redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rare manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Caused by homozygous mutation in the RIN2 gene on chromosome 20p11. 900000000000017005 +3424329019 20170731 1 900000000000207008 723384004 en 900000000000550004 A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by Bacille Calmette-Guerin (BCG) infections. The prevalence is unknown. Caused by mutations in the ISG15 gene (1p36.33), which encodes an IFN-alpha/beta inducible, ubiquitin-like intracellular protein. These mutations impair ISG15 secretion by leukocytes, a molecule which plays an essential role as an IFN-gamma-inducing secreted molecule needed for optimal antimycobacterial immunity. Inherited in an autosomal recessive manner. 900000000000017005 +3424330012 20170731 1 900000000000207008 723384004 en 900000000000550004 A genetic variant of mendelian susceptibility to mycobacterial diseases characterised by Bacille Calmette-Guerin (BCG) infections. The prevalence is unknown. Caused by mutations in the ISG15 gene (1p36.33), which encodes an IFN-alpha/beta inducible, ubiquitin-like intracellular protein. These mutations impair ISG15 secretion by leucocytes, a molecule which plays an essential role as an IFN-gamma-inducing secreted molecule needed for optimal antimycobacterial immunity. Inherited in an autosomal recessive manner. 900000000000017005 +3424335019 20170731 1 900000000000207008 723385003 en 900000000000550004 A rare genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG). The prevalence is unknown. The first infections occur after vaccination with BCG and before the age of 2. No other infectious diseases have been reported. Caused by heterozygous mutations in the IRF8 gene on chromosome 16q24.1 which encodes IRF8, a protein essential for the development of dendritic cells and the differentiation of macrophages and granulocytes. Mutations in the IRF8 gene impair IL-12 secretion by monocytes and dendritic cells. Inherited in an autosomal dominant manner. 900000000000017005 +3424340010 20170731 1 900000000000207008 723386002 en 900000000000550004 A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. The prevalence is unknown. First infections occur after the age of 3. Clinical penetrance is incomplete and some patients are asymptomatic while others have very mild clinical manifestations. Caused by heterozygous mutations in the STAT1 gene on chromosome 2q32.2-q32.3 encoding the signal transducer and activator of transcription 1. Two distinct forms have been described: one affecting phosphorylation and the other impairing DNA-binding activity. Transmission is autosomal dominant. 900000000000017005 +3424448019 20170731 1 900000000000207008 723404002 en 900000000000550004 A skeletal dysplasia with distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (including irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses). 900000000000017005 +3424452019 20170731 1 900000000000207008 723405001 en 900000000000550004 A syndrome of abnormal cortical development with characteristics of severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. 900000000000017005 +3424456016 20170731 1 900000000000207008 723406000 en 900000000000550004 A malformative syndrome due to the teratogenic effect of mycophenolate mofetil (MMF), an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. To date the majority of cases have been offspring of women who received a solid organ transplant. The newborn or fetus generally has external ear anomalies. Cleft lip-palate with micrognathia is frequently observed. Aberrant orofacial cleft has been observed in one case. Ocular anomalies, such as microphthalmia and iris or chorioretinal coloboma are also frequent. Distal limbs anomalies as well as congenital malformations of the heart, kidneys and/or central nervous system may also be observed. 900000000000017005 +3424459011 20170731 1 900000000000207008 723407009 en 900000000000550004 Disease characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. Two patients presented with a rigid spine and one a peripheral neuropathy. Disintegration of Z disks, extensive accumulation of granular debris and larger inclusions and apoptosis of a small fraction of the nuclei distinguish the disease. Caused by a mutation in the BAG3 gene, encoding a protein localized to the Z disk. Transmission is autosomal dominant. 900000000000017005 +3424460018 20170731 1 900000000000207008 723407009 en 900000000000550004 Disease characterised by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. Two patients presented with a rigid spine and one a peripheral neuropathy. Disintegration of Z disks, extensive accumulation of granular debris and larger inclusions and apoptosis of a small fraction of the nuclei distinguish the disease. Caused by a mutation in the BAG3 gene, encoding a protein localised to the Z disk. Transmission is autosomal dominant. 900000000000017005 +3424465011 20170731 1 900000000000207008 723408004 en 900000000000550004 A patterned dystrophy of the retinal pigment epithelium with characteristics of multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease. Usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age. 900000000000017005 +3424474013 20170731 1 900000000000207008 723409007 en 900000000000550004 A very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. It has been described in two siblings and one unrelated child. The two siblings had digitalized thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goiter and/or digitalized thumbs and/or polydactyly were present in other members of families. This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance. 900000000000017005 +3424475014 20170731 1 900000000000207008 723409007 en 900000000000550004 A very rare syndrome characterised by the association of multinodular goitre, cystic renal disease and digital anomalies. It has been described in two siblings and one unrelated child. The two siblings had digitalised thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goitre and/or digitalised thumbs and/or polydactyly were present in other members of families. This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance. 900000000000017005 +3424478011 20170731 1 900000000000207008 723410002 en 900000000000550004 Syndrome that is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity. Mutations in DNA polymerase alpha, leading to increased chromosome breakage, may be responsible for the syndrome. X-linked recessive transmission has been proposed. 900000000000017005 +3424479015 20170731 1 900000000000207008 723410002 en 900000000000550004 Syndrome that is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity. Mutations in DNA polymerase alpha, leading to increased chromosome breakage, may be responsible for the syndrome. X-linked recessive transmission has been proposed. 900000000000017005 +3424594018 20170731 1 900000000000207008 723357000 en 900000000000550004 Method that examines a group of palpable points occurring in predictable locations on the anterior and posterior surfaces of the body that are considered to be reflections of visceral dysfunction or disease. 900000000000017005 +3424623012 20170731 1 900000000000207008 723440000 en 900000000000550004 A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterized by hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatremic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers. 900000000000017005 +3424624018 20170731 1 900000000000207008 723440000 en 900000000000550004 A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterised by hypotonic hyponatraemia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatraemic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers. 900000000000017005 +3424627013 20170731 1 900000000000207008 723441001 en 900000000000550004 Disease with characteristics of the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and in later life intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). Caused by heterozygous disruption of the CAMTA1 gene on chromosome 1p36. 900000000000017005 +3424633016 20170731 1 900000000000207008 723442008 en 900000000000550004 An extremely rare syndrome with characteristics of multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Consanguinity in the family suggested autosomal recessive inheritance. 900000000000017005 +3424643018 20170731 1 900000000000207008 723443003 en 900000000000550004 A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. The disease is due to a point dominant negative mutation in the RAC2 gene causing decreased Rac2 protein expression and a defect in a signaling pathway controlling shape change/motility of neutrophils as well as assembly and activation of NADPH oxidase. The mode of transmission is unknown. 900000000000017005 +3424644012 20170731 1 900000000000207008 723443003 en 900000000000550004 A primary immunodeficiency characterised by neutrophilia with severe neutrophil dysfunction, leucocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. The disease is due to a point dominant negative mutation in the RAC2 gene causing decreased Rac2 protein expression and a defect in a signalling pathway controlling shape change/motility of neutrophils as well as assembly and activation of NADPH oxidase. The mode of transmission is unknown. 900000000000017005 +3424648010 20170731 1 900000000000207008 723444009 en 900000000000550004 A Noonan-related syndrome with characteristics of facial anomalies suggestive of Noonan syndrome, a distinctive hair anomaly described as loose anagen hair syndrome, frequent congenital heart defects, distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichthyosis and short stature, often associated with a growth hormone deficiency and psychomotor delay. There is evidence that this syndrome is caused by heterozygous mutation in the SHOC2 gene on chromosome 10q25. 900000000000017005 +3424655012 20170731 1 900000000000207008 723446006 en 900000000000550004 A limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been described, unilateral and bilateral. There have been no further descriptions in the literature since 1962. 900000000000017005 +3424663013 20170731 1 900000000000207008 723448007 en 900000000000550004 Rare syndrome with characteristics of the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit. Dysplasia may involve the mitral, tricuspidal, aortic and pulmonary valves. Dysmorphic facial anomalies are usually mild, vary among families and include a dolichocephalic face, broad forehead, ptosis, prominent nose, crowded teeth, high-arched palate and posteriorly angulated and everted ears. The severity of short stature is variable, as is the presence of intellectual deficit. The condition seems to be transmitted as an autosomal dominant trait. 900000000000017005 +3424667014 20170731 1 900000000000207008 723449004 en 900000000000550004 Rare syndrome with the association of congenital nephrotic syndrome, ocular anomalies and microcoria. The disorder results in proteinuria with nephrotic syndrome and histological lesions marked by diffuse mesangial sclerosis. Ocular anomalies are present from birth and include microcoria (small pupils that are not responsive to light) associated with absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development. Marked muscle hypotonia, movement disorders and psychomotor delay have also been reported. Mutations in the LAMB2 gene (3p21) encoding laminin beta 2 have been identified. Laminin beta 2 is expressed in the glomerular basement membrane at the neuromuscular junctions, as well as in the intraocular muscles, lens and retina. The disease is transmitted as an autosomal recessive trait. 900000000000017005 +3424672017 20170731 1 900000000000207008 723450004 en 900000000000550004 A rare commonly bilateral and symmetric retinal disease with characteristics of non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ‘bone-corpuscle’ pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. There is evidence this disease is caused by heterozygous mutation in the CRB1 gene on chromosome 1q31. 900000000000017005 +3424672017 20210131 0 900000000000207008 723450004 en 900000000000550004 A rare commonly bilateral and symmetric retinal disease with characteristics of non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ‘bone-corpuscle’ pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. There is evidence this disease is caused by heterozygous mutation in the CRB1 gene on chromosome 1q31. 900000000000017005 +3424675015 20170731 1 900000000000207008 723451000 en 900000000000550004 A form of ectodermal dysplasia with characteristics of dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive. 900000000000017005 +3424681011 20170731 1 900000000000207008 723452007 en 900000000000550004 A slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that becomes evident during the third decade of life. The syndrome has been described in three patients from a consanguineous family (one brother, one sister and a male cousin). The disease manifests during childhood with pes cavus and tendo-achilles contractures. A disorder of gait, due to ataxia and spasticity, develops during adulthood. Contrarily to Refsum disease, plasmatic phytanic and pristanic acid levels as well as alpha-oxidation enzymatic activity are normal. Transmission is autosomal recessive. The disease was mapped on chromosome 20 (20p11.21-q12). 900000000000017005 +3424687010 20170731 1 900000000000207008 723453002 en 900000000000550004 A very rare syndrome with the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. It has been described in two siblings. One of the siblings also had a myelomeningocele. The reported cases suggest the condition is hereditary with probable autosomal recessive inheritance. 900000000000017005 +3424691017 20170731 1 900000000000207008 723454008 en 900000000000550004 An X-linked disorder of purine metabolism comprised of two forms: an early-onset severe form with characteristics of gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).The disease is due to overactivity of ribose-phosphate pyrophosphokinase 1 (PRS-I), an enzyme involved in the synthesis of PRPP, a cofactor involved in the synthesis of purine and pyrimidine nucleotides. PRS-I overactivity results in the overproduction of purine nucleotides and uric acid. In the severe form, PRS-I overactivity is due to gain-of-function point mutations in the open reading frame of the PRSP1 gene (Xq22.3) encoding PRS-I, that lead to defective allosteric control of PRS-I isoform activity. 900000000000017005 +3424694013 20170731 1 900000000000207008 723455009 en 900000000000550004 A very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi and extracutaneous anomalies. 900000000000017005 +3424695014 20170731 1 900000000000207008 723455009 en 900000000000550004 A very rare epidermal naevus disorder characterised by the association of speckled lentiginous nevi with epidermal sebaceous nevi and extracutaneous anomalies. 900000000000017005 +3424711010 20170731 1 900000000000207008 723461007 en 900000000000550004 The association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis), facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyper convex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development are normal. It has been described in two half brothers born to the same mother. Transmission appears to be X-linked recessive. 900000000000017005 +3424737013 20170731 1 900000000000207008 723471009 en 900000000000550004 Engagement with the service user in order to provide education about the management of their symptoms within specified activities. 900000000000017005 +3424832012 20170731 1 900000000000207008 723496007 en 900000000000550004 A benign natural killer (NK) cell lymphoproliferative disease with characteristics of minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma. 900000000000017005 +3424836010 20170731 1 900000000000207008 723497003 en 900000000000550004 Syndrome with the association of sensorineural hearing impairment and peripheral neuropathy. It has been described in members from four generations of a Spanish family. The hearing impairment was mild and often asymmetrical. The neuropathy was demyelinating with predominantly sensory involvement but severity was variable ranging from asymptomatic individuals to patients with skin ulcers and osteomyelitis requiring amputation. Caused by mutations in the GJB3 gene (1p34). The syndrome is transmitted in an autosomal dominant manner. 900000000000017005 +3424847015 20170731 1 900000000000207008 723499000 en 900000000000550004 Ring dermoid of cornea has characteristics of annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene on chromosome 4q25 have been suggested as a potential cause of the condition. 900000000000017005 +3424852013 20170731 1 900000000000207008 723500009 en 900000000000550004 An extremely rare variant of aplasia cutis congenita with characteristics of congenital absence of skin on the upper and/or lower limbs. These lesions usually heal spontaneously resulting in a hypotrichotic scar. May be associated with junctional epidermolysis bullosa. There have been no further descriptions in the literature since 1980. 900000000000017005 +3424852013 20200131 0 900000000000207008 723500009 en 900000000000550004 An extremely rare variant of aplasia cutis congenita with characteristics of congenital absence of skin on the upper and/or lower limbs. These lesions usually heal spontaneously resulting in a hypotrichotic scar. May be associated with junctional epidermolysis bullosa. There have been no further descriptions in the literature since 1980. 900000000000017005 +3424855010 20170731 1 900000000000207008 723501008 en 900000000000550004 An X-linked mental retardation syndrome belonging to the group of conditions with the association of intellectual deficit with hypotonic facies. Prevalence is unknown but the syndrome was first described in 1982 in five males from two generations of one family (three brothers and two of their maternal uncles). The syndrome has characteristics of the association of microcephaly, spasticity, epilepsy, deafness and severe intellectual deficit. Female carriers show microcephaly and subnormal intelligence. Transmission is X-linked 900000000000017005 +3424858012 20170731 1 900000000000207008 723502001 en 900000000000550004 A patterned dystrophy of the retinal pigment epithelium with a progressive course. The disease is characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses and partial atrophy of the iris. 900000000000017005 +3424859016 20170731 1 900000000000207008 723502001 en 900000000000550004 A patterned dystrophy of the retinal pigment epithelium with a progressive course. The disease is characterised by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Sometimes associated with scleral staphyloma, choroidal neovascularisation, convergent strabismus, spherophakia with myopia and luxated lenses and partial atrophy of the iris. 900000000000017005 +3424863011 20170731 1 900000000000207008 723503006 en 900000000000550004 Syndrome with characteristics of progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. 900000000000017005 +3424868019 20170731 1 900000000000207008 723504000 en 900000000000550004 An extremely rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The etiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity. 900000000000017005 +3424869010 20170731 1 900000000000207008 723504000 en 900000000000550004 An extremely rare genetic disorder characterised by corneal anaesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The aetiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity. 900000000000017005 +3424883012 20170731 1 900000000000207008 723508002 en 900000000000550004 An extremely rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. Age of onset of the clinical signs is invariably in infancy or early childhood. Most patients have atypical features such as elevated counts for cells of myeloid origin (monocytosis and granulocytosis) making their clinical presentation indistinguishable from juvenile myelomonocytic leukemia. Caused by somatic mutations in the NRAS (1p13.2) and KRAS (12p12.1) genes encoding RAS proteins involved in regulating cell proliferation causing impairment of the intrinsic apoptosis pathway. The pattern of inheritance is not known. RAS mutations are considered somatic and limited to the circulating peripheral blood mononuclear cells. 900000000000017005 +3424884018 20170731 1 900000000000207008 723508002 en 900000000000550004 An extremely rare genetic disorder characterised by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinaemia. Age of onset of the clinical signs is invariably in infancy or early childhood. Most patients have atypical features such as elevated counts for cells of myeloid origin (monocytosis and granulocytosis) making their clinical presentation indistinguishable from juvenile myelomonocytic leukaemia. Caused by somatic mutations in the NRAS (1p13.2) and KRAS (12p12.1) genes encoding RAS proteins involved in regulating cell proliferation causing impairment of the intrinsic apoptosis pathway. The pattern of inheritance is not known. RAS mutations are considered somatic and limited to the circulating peripheral blood mononuclear cells. 900000000000017005 +3424897016 20170731 1 900000000000207008 723512008 en 900000000000550004 A rare severe phenotypic variant of dyskeratosis congenita with onset in early childhood. The syndrome has features of dyskeratosis congenita (for example skin hyper/hypopigmentation, nail dystrophy, high risk of bone marrow failure and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy and intracranial calcifications. 900000000000017005 +3424988019 20170731 1 900000000000207008 64445006 en 900000000000550004 Glare can be defined as the contrast lowering effect of stray light in a visual scene. 900000000000017005 +3425019010 20170731 1 900000000000207008 723544007 en 900000000000550004 A rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to Polyomavirus infection in immunocompromized patients. 900000000000017005 +3425020016 20170731 1 900000000000207008 723544007 en 900000000000550004 A rare infectious skin disease characterised by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to Polyomavirus infection in immunocompromised patients. 900000000000017005 +3425070018 20170731 1 900000000000207008 723551003 en 900000000000550004 A heterogeneous group disorders characterized by short, brittle hair with low-sulfur content (due to an abnormal synthesis of the sulfur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localized to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome. 900000000000017005 +3425071019 20170731 1 900000000000207008 723551003 en 900000000000550004 A heterogeneous group disorders characterised by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localised to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome. 900000000000017005 +3425080019 20170731 1 900000000000207008 723552005 en 900000000000550004 A very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. 900000000000017005 +3425081015 20170731 1 900000000000207008 723552005 en 900000000000550004 A very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycaemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. 900000000000017005 +3425084011 20170731 1 900000000000207008 723553000 en 900000000000550004 A rare subtype of dystrophic epidermolysis bullosa characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. Less than 30 cases have been reported to date. The disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Disease activity usually ceases within the first 6 to 24 months of life. However, nail dystrophy and some degree of skin fragility can persist in adulthood. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. The condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessive trait. 900000000000017005 +3425085012 20170731 1 900000000000207008 723553000 en 900000000000550004 A rare subtype of dystrophic epidermolysis bullosa characterised by generalised blistering at birth that usually regresses within the first 6 to 24 months of life. Less than 30 cases have been reported to date. The disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Disease activity usually ceases within the first 6 to 24 months of life. However, nail dystrophy and some degree of skin fragility can persist in adulthood. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. The condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessive trait. 900000000000017005 +3425090010 20170731 1 900000000000207008 723554006 en 900000000000550004 Syndrome that is characterized by the association of epibulbar dermoids and aplasia cutis congenital. 900000000000017005 +3425091014 20170731 1 900000000000207008 723554006 en 900000000000550004 Syndrome that is characterised by the association of epibulbar dermoids and aplasia cutis congenital. 900000000000017005 +3425097013 20170731 1 900000000000207008 723555007 en 900000000000550004 This syndrome has characteristics of intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. It has been described in three girls born to a nonconsanguineous couple. 900000000000017005 +3425101016 20170731 1 900000000000207008 723556008 en 900000000000550004 A short-rib dysplasia with characteristics of thoracic dystrophy, laryngeal stenosis and a small pelvis. Less than 10 cases have been reported in the literature so far. Patients present with severe respiratory distress (requiring intubation) during the neonatal period. The rib shortening is less severe than in Jeune syndrome and the thorax is characteristically small, narrow and bell-shaped. The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation. Transmission is autosomal dominant. 900000000000017005 +3425106014 20170731 1 900000000000207008 723557004 en 900000000000550004 A Wernicke-like encephalopathy with characteristics of seizures responsive to high doses of thiamine. Two cases have been described so far. Clinical features include epilepsy, nystagmus, ophthalmoplegia and ataxia. The disease results from mutations in the SLC19A3 gene, encoding a thiamine transporter. Transmission is autosomal recessive. 900000000000017005 +3425160018 20170731 1 900000000000207008 723578001 en 900000000000550004 Syndrome with characteristics of malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. It has been described in 18 females, six of whom came from four different generations of the same family. Phenotypic expression is very heterogeneous. In the majority of patients, the bone dysplasia is limited to the hands and feet but shortening and/or bowing of the bones of the arms and legs has been reported in severe cases. The pigmentary lesions and digital fibromatosis appear a few months after birth. There is evidence that the syndrome is caused by mutation in the FLNA gene. The syndrome is transmitted as an in utero male-lethal X-linked dominant trait, explaining the large number of miscarriages reported in the affected families. 900000000000017005 +3425164010 20170731 1 900000000000207008 723579009 en 900000000000550004 A rare lipoprotein metabolism disorder with biochemical characteristics of an almost complete absence of plasma high-density lipoproteins (HDL) and clinical characteristics of liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents and occasionally cardiovascular disease in adults. Approximately 100 cases have been described worldwide. The disease is due to mutations in the ABCA1 gene (9q31) encoding the ATP-binding cassette transporter (ABC1), a cholesterol efflux regulatory protein that is able to orient cellular cholesterol towards the cell surface and to facilitate its transfer towards the core of HDL. Mutations in this gene result in severe deficiency of plasma HDL cholesterol and deposition of cholesteryl and retinyl esters and carotenoids in nonadipose tissues. Transmission is autosomal recessive. 900000000000017005 +3425168013 20170731 1 900000000000207008 723580007 en 900000000000550004 An extremely rare form of primary osteolysis, described in two sisters to date, with characteristics of bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals in the absence of renal disease. Autosomal recessive inheritance has been suggested. 900000000000017005 +3425173019 20170731 1 900000000000207008 723581006 en 900000000000550004 Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far. The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown function. 900000000000017005 +3425176010 20170731 1 900000000000207008 723582004 en 900000000000550004 A very rare form of superficial corneal dystrophy with characteristics of frequent recurrent corneal erosions in the first decade of life and progressive loss of vision. The condition has only been reported in one single family. Painful episodes of recurrent corneal erosions occur in the first decade of life but decrease during adolescence. Later in life, patients are reported to develop subepithelial opacities and a corneal haze. The disease eventually progresses over time leading to corneal opacities and loss of vision. The gene related to this disease has not been mapped to a particular chromosomal locus. 900000000000017005 +3425180017 20170731 1 900000000000207008 723583009 en 900000000000550004 An autosomal recessive liver disease, which was associated with numerical dental aberrations in a consanguineous Arabia Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease. 900000000000017005 +3425181018 20170731 1 900000000000207008 723583009 en 900000000000550004 An autosomal recessive liver disease, which was associated with numerical dental aberrations in a consanguineous Arabia Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralization and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease. 900000000000017005 +3425186011 20170731 1 900000000000207008 723584003 en 900000000000550004 Syndrome with characteristics of corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait. 900000000000017005 +3425193010 20170731 1 900000000000207008 111304003 en 900000000000550004 Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. 900000000000017005 +3425194016 20170731 1 900000000000207008 111304003 en 900000000000550004 Spondylometaphyseal dysplasia, Kozlowski type is characterised by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalised platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. 900000000000017005 +3425255010 20170731 1 900000000000207008 723610009 en 900000000000550004 Syndrome with the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. 900000000000017005 +3425255010 20220630 0 900000000000207008 723610009 en 900000000000550004 Syndrome with the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. 900000000000017005 +3425262018 20170731 1 900000000000207008 723612001 en 900000000000550004 Syndrome with characteristics of infantile symmetrical distal muscle weakness and atrophy of the lower limbs, bilateral anterior polar cataracts and Dandy-Walker malformation. It has been described in two brothers. No sensorineural or cognitive deficits were observed. The karyotypes of the two patients were normal. No mutations were found in the survival motor neurone (SMN), neuronal apoptosis inhibitory protein (NAIP) or androgen receptor genes. 900000000000017005 +3425299018 20170731 1 900000000000207008 723621000 en 900000000000550004 This syndrome has characteristics of nonprogressive spastic paraplegia, retinitis pigmentosa and intellectual deficit. It has been described in two brothers born to consanguineous parents. 900000000000017005 +3425305016 20170731 1 900000000000207008 723622007 en 900000000000550004 An X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated spastic paraplegia. Spastic paraplegia type 2 is due to missense substitutions affecting the PLP1 gene. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20). Transmission is X-linked recessive. 900000000000017005 +3425306015 20170731 1 900000000000207008 723622007 en 900000000000550004 An X-linked leucodystrophy characterised primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated spastic paraplegia. Spastic paraplegia type 2 is due to missense substitutions affecting the PLP1 gene. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20). Transmission is X-linked recessive. 900000000000017005 +3425311018 20170731 1 900000000000207008 723623002 en 900000000000550004 A rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localized on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance. 900000000000017005 +3425312013 20170731 1 900000000000207008 723623002 en 900000000000550004 A rare hereditary red cell membrane defect characterised by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anaemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localised on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance. 900000000000017005 +3425320010 20170731 1 900000000000207008 723624008 en 900000000000550004 An extremely rare form of carbohydrate deficient glycoprotein syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. 900000000000017005 +3425321014 20170731 1 900000000000207008 723624008 en 900000000000550004 An extremely rare form of carbohydrate deficient glycoprotein syndrome characterised clinically in the single reported case by repeated haemorrhagic incidents, including severe pulmonary haemorrhage. 900000000000017005 +3425326016 20170731 1 900000000000207008 723625009 en 900000000000550004 An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. 900000000000017005 +3425514013 20170731 1 900000000000207008 723674005 en 900000000000550004 Refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C. The prevalence is unknown. This serological disorder is almost invariably associated with well-known hematological disorders, usually B-cell dyscrasia (multiple myeloma, Waldenstrom macroglobulinemia, or chronic lymphocytic leukemia). Type I cryoglobulinemia is frequently asymptomatic per se but patients may develop acrocyanosis, retinal hemorrhage, Raynaud's phenomenon and arterial thrombosis. The pathogenetic processes in simple cryoglobulinemia generally appear to be related to those of the underlying lymphoproliferative diseases. 900000000000017005 +3425515014 20170731 1 900000000000207008 723674005 en 900000000000550004 Refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C. The prevalence is unknown. This serological disorder is almost invariably associated with well-known haematological disorders, usually B-cell dyscrasia (multiple myeloma, Waldenstrom macroglobulinaemia, or chronic lymphocytic leukaemia). Type I cryoglobulinaemia is frequently asymptomatic per se but patients may develop acrocyanosis, retinal haemorrhage, Raynaud's phenomenon and arterial thrombosis. The pathogenetic processes in simple cryoglobulinaemia generally appear to be related to those of the underlying lymphoproliferative diseases. 900000000000017005 +3425521013 20170731 1 900000000000207008 723675006 en 900000000000550004 A very rare lysosomal storage disease which is the normosomatic form of sialidosis with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. The prevalence is unknown but it is less frequent than sialidosis type 2. This disease is due to a mutation of the N-acetyl-alpha-neuraminidase-1 (NEU1) gene (6p21) encoding the lysosomal enzyme neuraminidase that initiates the degradation of sialoglycoconjugates in lysosomes. Mutations lead to a decrease in enzyme activity and consequently to an accumulation of sialyloligosaccharides in tissues. Disease severity is linked to level of residual neuraminidase activity in vivo and varies between patients. Inherited in an autosomal recessive manner. 900000000000017005 +3425525016 20170731 1 900000000000207008 723676007 en 900000000000550004 This syndrome has characteristics of severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in chromosome regions on chromosome 1 and chromosome 14. 900000000000017005 +3425567013 20170731 1 900000000000207008 52616002 en 900000000000550004 A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis. 900000000000017005 +3425622011 20170731 1 900000000000207008 416615002 en 900000000000550004 An indirect treatment approach that involves finding the dynamic balance point and one of the following: applying an indirect guiding force, holding the position or adding compression to exaggerate position and allow for spontaneous readjustment. The osteopathic practitioner guides the manipulative procedure while the dysfunctional area is being palpated in order to obtain a continuous feedback of the physiologic response to induced motion. The osteopathic practitioner guides the dysfunctional part so as to create a decreasing sense of tissue resistance (increased compliance). 900000000000017005 +3425622011 20200131 0 900000000000207008 416615002 en 900000000000550004 An indirect treatment approach that involves finding the dynamic balance point and one of the following: applying an indirect guiding force, holding the position or adding compression to exaggerate position and allow for spontaneous readjustment. The osteopathic practitioner guides the manipulative procedure while the dysfunctional area is being palpated in order to obtain a continuous feedback of the physiologic response to induced motion. The osteopathic practitioner guides the dysfunctional part so as to create a decreasing sense of tissue resistance (increased compliance). 900000000000017005 +3425669018 20170731 1 900000000000207008 723716009 en 900000000000550004 The most severe subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Blisters develop at birth or during the neonatal period and affect all the body as well as the oral and gastrointestinal mucosa. Eye involvement is frequent and includes blepharitis and corneal blisters that can lead to loss of vision. Esophageal stricture is frequent and result in severe dysphagia. Nearly all patients develop at least one aggressive squamous cell carcinoma. The disease is caused by null mutations within the type VII collagen gene (COL7A1) that usually lead to a lack of functional collagen VII, the main constituent of anchoring fibrils that anchor the basement membrane to the dermis. Transmission is autosomal recessive. 900000000000017005 +3425670017 20170731 1 900000000000207008 723716009 en 900000000000550004 The most severe subtype of dystrophic epidermolysis bullosa characterised by generalised cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Blisters develop at birth or during the neonatal period and affect all the body as well as the oral and gastrointestinal mucosa. Eye involvement is frequent and includes blepharitis and corneal blisters that can lead to loss of vision. Oesophageal stricture is frequent and result in severe dysphagia. Nearly all patients develop at least one aggressive squamous cell carcinoma. The disease is caused by null mutations within the type VII collagen gene (COL7A1) that usually lead to a lack of functional collagen VII, the main constituent of anchoring fibrils that anchor the basement membrane to the dermis. Transmission is autosomal recessive. 900000000000017005 +3425689017 20170731 1 900000000000207008 723720008 en 900000000000550004 Syndrome that has characteristics of female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. The syndrome is lethal and has been described in three fetuses. It is caused by homozygous missense mutations in the WNT4 gene. It is transmitted as an autosomal recessive trait. 900000000000017005 +3425693011 20170731 1 900000000000207008 723721007 en 900000000000550004 Syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor. It has been described in three unrelated individuals. Additional family members in each family showed varied expression of these three signs. The syndrome appears to be autosomal dominant with variable penetrance but the causative mutation has not yet been identified. 900000000000017005 +3425694017 20170731 1 900000000000207008 723721007 en 900000000000550004 Syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor. It has been described in three unrelated individuals. Additional family members in each family showed varied expression of these three signs. The syndrome appears to be autosomal dominant with variable penetrance but the causative mutation has not yet been identified. 900000000000017005 +3425710019 20170731 1 900000000000207008 417236000 en 900000000000550004 An objective quantification of lumbar lordosis typically determined by measuring the angle between the superior surface of the second lumbar vertebra and the superior surface of the first sacral segment; best measured from a standing lateral x-ray file. 900000000000017005 +3425713017 20170731 1 900000000000207008 416452005 en 900000000000550004 An objective quantification of lumbar lordosis typically determined by measuring the angle between the superior surface of the second lumbar vertebra and the inferior surface of the fifth lumbar vertebra; best measured from a standing lateral x-ray film. 900000000000017005 +3425717016 20170731 1 900000000000207008 416603001 en 900000000000550004 Represents the angle of the lumbosacral junction as measured by the inclination of the superior surface of the first sacral vertebra to the horizontal (this is actually a sacral angle); usually measured from standing lateral x-ray films. 900000000000017005 +3425736014 20170731 1 900000000000207008 723732007 en 900000000000550004 Parietal lift is used to release the sutures of the frontal bone and the anterior/posterior Falx Cerebri and Falx Cerebelli. Indications for this procedure include; headaches/migraines, sinus problems, CP, Frontal accidents (falls, mva), decreased smell or taste. 900000000000017005 +3425867018 20170731 1 900000000000207008 723336008 en 900000000000550004 A rare disorder characterised by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modelled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait. 900000000000017005 +3425868011 20170731 1 900000000000207008 723336008 en 900000000000550004 A rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modeled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait. 900000000000017005 +3426021010 20170731 1 900000000000207008 417171005 en 900000000000550004 (1) A test for lateralization of somatic dysfunction of the sacrum, innominate, or pubic symphysis. (2) Application of a force through the ASIS into one of the pelvic axes to assess the mechanics of the pelvis. 900000000000017005 +3426022015 20170731 1 900000000000207008 417171005 en 900000000000550004 (1) A test for lateralisation of somatic dysfunction of the sacrum, innominate, or pubic symphysis. (2) Application of a force through the ASIS into one of the pelvic axes to assess the mechanics of the pelvis. 900000000000017005 +3426256016 20170731 1 900000000000207008 723819007 en 900000000000550004 A complex form of hereditary spastic paraplegia, with onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. The SPG36 phenotype has been mapped to a locus on chromosome 12q23-q24. 900000000000017005 +3426261019 20170731 1 900000000000207008 723820001 en 900000000000550004 A form of hereditary spastic paraplegia with high intrafamilial clinical variability. Characterized in most cases as a pure phenotype with an adult onset (mainly the third to fifth decade of life, but that can present at any age) with progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Caused by mutations in the SPAST gene (2p24-p21), encoding spastin. 900000000000017005 +3426262014 20170731 1 900000000000207008 723820001 en 900000000000550004 A form of hereditary spastic paraplegia with high intrafamilial clinical variability. Characterised in most cases as a pure phenotype with an adult onset (mainly the third to fifth decade of life, but that can present at any age) with progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Caused by mutations in the SPAST gene (2p24-p21), encoding spastin. 900000000000017005 +3426265011 20170731 1 900000000000207008 723821002 en 900000000000550004 A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. Caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. 900000000000017005 +3426266012 20170731 1 900000000000207008 723821002 en 900000000000550004 A very rare, complex form of hereditary spastic paraplegia characterised by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leucodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. Caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. 900000000000017005 +3426270016 20170731 1 900000000000207008 723822009 en 900000000000550004 A rare complex type of hereditary spastic paraplegia with onset, in infancy or childhood of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. Caused by mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. 900000000000017005 +3426273019 20170731 1 900000000000207008 723823004 en 900000000000550004 A very rare complex type of hereditary spastic paraplegia with characteristics of early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. Caused by mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. 900000000000017005 +3426276010 20170731 1 900000000000207008 723824005 en 900000000000550004 A rare complex form of hereditary spastic paraplegia with the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. Caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. 900000000000017005 +3426283015 20170731 1 900000000000207008 723826007 en 900000000000550004 An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. 900000000000017005 +3426287019 20170731 1 900000000000207008 723827003 en 900000000000550004 A rare osteogenesis imperfecta-like disorder, described in two patients to date, with clinical characteristics of persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. 900000000000017005 +3426297011 20170731 1 900000000000207008 723828008 en 900000000000550004 A retinal dystrophy with characteristics of central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). To date less than 20 cases have been described in the world literature. Caused by compound heterozygous or homozygous mutations in the BEST1 gene (11q12) which encodes the chloride ion channel bestrophin-1 (expressed in the retinal pigment epithelium (RPE)). Mutations in BEST1 reduce or abolish the activity of the channel. It has been proposed that ARB may represent the null phenotype of bestrophin-1 in humans. Transmission is autosomal recessive. 900000000000017005 +3426307015 20170731 1 900000000000207008 723829000 en 900000000000550004 Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named “trimorphic syndrome” (i.e. three inherited morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition is associated with 100% mortality. 900000000000017005 +3426307015 20210131 0 900000000000207008 723829000 en 900000000000550004 Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named “trimorphic syndrome” (i.e. three inherited morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition is associated with 100% mortality. 900000000000017005 +3426320017 20170731 1 900000000000207008 723830005 en 900000000000550004 Syndrome that is characterised by generalised keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalised alopecia and microcephaly were also present. 900000000000017005 +3426321018 20170731 1 900000000000207008 723830005 en 900000000000550004 Syndrome that is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present. 900000000000017005 +3428262019 20170731 1 900000000000207008 723825006 en 900000000000550004 A rare complex type of hereditary spastic paraplegia with characteristics of childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities and sensorimotor neuropathy. Caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12ORF65, mitochondrial. 900000000000017005 +3428317015 20170731 1 900000000000207008 723991007 en 900000000000550004 A congenital vascular bone syndrome with the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. The affected limb may show overgrowth in comparison with the contralateral limb and the extent of this limb length discrepancy may vary from a slight difference to 10cm or more. The growth effect may be manifested in only one bone (mainly the femur or tibia) or, in some cases, affect the whole limb. The existence of arteriovenous fistulas around or inside the bone is now being widely accepted as the main cause of bone overgrowth. Although the syndrome generally appears to be sporadic, autosomal dominant inheritance has been noted in a few families. 900000000000017005 +3428342012 20170731 1 900000000000207008 723992000 en 900000000000550004 A rare genetic neurodegenerative disorder with characteristics of juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy and cognitive impairment. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the ATP13A2 gene encoding a lysosomal type 5 ATPase, on chromosome 1p36. Some patients have neuroradiological evidence of iron deposition in the basal ganglia. 900000000000017005 +3428348011 20170731 1 900000000000207008 723993005 en 900000000000550004 An extremely rare autosomal dominant syndrome described in two families to date and with characteristics of moderate to severe sensorineural hearing loss manifesting during childhood and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. Caused by mutation in the EYA4 gene. 900000000000017005 +3428356014 20170731 1 900000000000207008 723994004 en 900000000000550004 This syndrome has characteristics of hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient. 900000000000017005 +3428412010 20170731 1 900000000000207008 723995003 en 900000000000550004 A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. Caused by mutations in the SMARCAL1 gene (2q35), which encodes the chromatin remodeling protein hHARP (also known as the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1). An autosomal recessive disorder. 900000000000017005 +3428413017 20170731 1 900000000000207008 723995003 en 900000000000550004 A multisystem disorder characterised by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. Caused by mutations in the SMARCAL1 gene (2q35), which encodes the chromatin remodelling protein hHARP (also known as the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1). An autosomal recessive disorder. 900000000000017005 +3428525017 20170731 1 900000000000207008 724002003 en 900000000000550004 Syndrome that is characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract and kidneys and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikiloderma and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage. 900000000000017005 +3428526016 20170731 1 900000000000207008 724002003 en 900000000000550004 Syndrome that is characterised by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract and kidneys and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikiloderma and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid haemorrhage. 900000000000017005 +3428871016 20170731 1 900000000000207008 724015007 en 900000000000550004 A rare pleiotropic auto-inflammatory disorder of childhood, primarily affecting the joints and skin. The first affected family contained ten affected members from three generations and manifested variable expression of a pauciarticular, nonaxial, arthritis that began in childhood; pyoderma gangrenosum; and severe cystic acne in adolescence and beyond. Recurrent sterile arthritis usually occurs after minor trauma, but can also occur spontaneously. PAPA syndrome is a self-limiting disease, but it can lead to severe joint destruction. The gene responsible for the syndrome is the proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1). 900000000000017005 +3428882012 20170731 1 900000000000207008 724016008 en 900000000000550004 The association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism. It has been described in three siblings. The facial dysmorphism includes a narrow and squared forehead, low set and dysplastic ears, a relatively long philtrum, telecanthus, bilateral thick eyebrows and absence of bilateral lower medial eyelashes. The affected patients have no intellectual deficit. The condition seems to be transmitted as an autosomal recessive trait. 900000000000017005 +3429225013 20170731 1 900000000000207008 724039002 en 900000000000550004 This syndrome is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels. It has been described in three unrelated patients. Transmission appears to be autosomal recessive. Two causative mutations have been identified in the gene encoding S-adenosylhomocysteine hydrolase (SAHH; AHCY), an enzyme involved in methionine metabolism. A methionine-restricted diet, together with creatine supplements, may partly improve the delayed myelination and psychomotor development. 900000000000017005 +3429226014 20170731 1 900000000000207008 724039002 en 900000000000550004 This syndrome is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels. It has been described in three unrelated patients. Transmission appears to be autosomal recessive. Two causative mutations have been identified in the gene encoding S-adenosylhomocysteine hydrolase (SAHH; AHCY), an enzyme involved in methionine metabolism. A methionine-restricted diet, together with creatine supplements, may partly improve the delayed myelination and psychomotor development. 900000000000017005 +3429698014 20170731 1 900000000000207008 724062000 en 900000000000550004 Syndrome with characteristics of the onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. It has been described in two sisters. Their mother had ptosis, muscle weakness and ophthalmoplegia, and southern blot analysis revealed heteroplasmic partial duplication of the mitochondrial DNA. Maternal inheritance of this partial duplication was suggested as the cause of the disease in the two sisters. 900000000000017005 +3429711013 20170731 1 900000000000207008 724063005 en 900000000000550004 Vasculitis has characteristics of inflammatory lesions in the wall of vessels and may be due to different viruses. Pathophysiology is partially misunderstood. However, mechanisms including direct injury by the virus or vascular damage resulting from immune reaction are incriminated. Few viruses are thought to be responsible for vasculitis even though their triggering role is not always easily confirmed. In less common cases, vasculitis affects immunocompetent patients, thus resembling polyarteritis nodosa or cutaneous angiitis. 900000000000017005 +3429733010 20170731 1 900000000000207008 724064004 en 900000000000550004 Syndrome with characteristics of congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. Serum lactic dehydrogenase activity was elevated in the mother and 1 daughter. 900000000000017005 +3429745018 20170731 1 900000000000207008 724065003 en 900000000000550004 Syndrome that is characterized by the association of progressive sensory ataxia and retinitis pigmentosa. Around 20 cases have been described in the last 50 years. Onset of symptoms usually occurs in childhood. The clinical picture is progressive, homogenous and includes severe sensory ataxia, proprioceptive loss (affecting the iliac crest, upper limbs and thorax), generalized areflexia and diffuse pigmentary retinopathy leading to blindness. Scoliosis, camptodactyly, achalasia and/or gastrointestinal motility dysfunction may also be present. The disease is associated with degeneration of the posterior column of the spinal cord. The causative gene, FLVCR1 (1q32.3), has been identified and localized to the AXPC1 locus (1q32-q31). 900000000000017005 +3429746017 20170731 1 900000000000207008 724065003 en 900000000000550004 Syndrome that is characterised by the association of progressive sensory ataxia and retinitis pigmentosa. Around 20 cases have been described in the last 50 years. Onset of symptoms usually occurs in childhood. The clinical picture is progressive, homogenous and includes severe sensory ataxia, proprioceptive loss (affecting the iliac crest, upper limbs and thorax), generalised areflexia and diffuse pigmentary retinopathy leading to blindness. Scoliosis, camptodactyly, achalasia and/or gastrointestinal motility dysfunction may also be present. The disease is associated with degeneration of the posterior column of the spinal cord. The causative gene, FLVCR1 (1q32.3), has been identified and localised to the AXPC1 locus (1q32-q31). 900000000000017005 +3429757010 20170731 1 900000000000207008 724066002 en 900000000000550004 Syndrome with characteristics of polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts). 900000000000017005 +3429788014 20170731 1 900000000000207008 724068001 en 900000000000550004 Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. It has been reported in less than 20 patients. The absence of pericardic tissue is complete or partial. The diaphragmatic hernia is most often left-sided. Some patients have additional digestive tract malformations. The few reported cases were all sporadic except in a family in which the recurrence of these anomalies in two siblings and the parental consanguinity suggested an autosomal recessive inheritance. 900000000000017005 +3429803012 20170731 1 900000000000207008 724069009 en 900000000000550004 A very rare variant of acrofacial dysostosis with characteristics of mandibulofacial dysostosis and limb anomalies. It has been described in less than ten patients. The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes. The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity. 900000000000017005 +3429811019 20170731 1 900000000000207008 724070005 en 900000000000550004 Syndrome with characteristics of severe pre and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. It has been reported in 2 unrelated patients. Facial dysmorphism includes high forehead, broad nasal bridge, thin upper lip, small chin and malformed ears. In addition, the patients presented with skin, iris and hair hypopigmentation and abnormal adipose tissue distribution. The syndrome is caused by an interstitial deletion of paternal origin at 20q13.2q13.3. In the 2 cases, the deletion was approximately 4.5Mb in size and encompassed the GNAS imprinted locus; the loss of the paternally expressed GNAS gene might account for the severe pre and post-natal retardation and intractable feeding difficulties observed in the patients. 900000000000017005 +3429830019 20170731 1 900000000000207008 724072002 en 900000000000550004 A form of paroxysmal dyskinesia with characteristics of painless attacks of dystonia of the extremities triggered by prolonged physical activities. The prevalence is unknown but 20 sporadic cases and 9 families have been described to date. The attacks last between 5 minutes and 2 hours and are typically restricted to the exercised limbs. The dystonic movements are usually bilateral and are aggravated by cold, psychological stress, fatigue and lack of sleep. The pathophysiology is still unknown but some familial cases were found to be associated with mutations in the SLC2A1 gene (1p34.2). Sporadic and familial cases with autosomal dominant mode of inheritance have been reported. 900000000000017005 +3430533011 20170731 1 900000000000207008 724090001 en 900000000000550004 This syndrome has characteristics of the combination of endocrine and neuroectodermal abnormalities. These abnormalities include low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four siblings from Myanmar. 900000000000017005 +3430550013 20170731 1 900000000000207008 724091002 en 900000000000550004 Syndrome that is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. Molecular data has shed light on the complex relationship that exists between this syndrome and Griscelli syndrome. Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds to with this syndrome. 900000000000017005 +3430551012 20170731 1 900000000000207008 724091002 en 900000000000550004 Syndrome that is characterised by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. Molecular data has shed light on the complex relationship that exists between this syndrome and Griscelli syndrome. Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds to with this syndrome. 900000000000017005 +3430566010 20170731 1 900000000000207008 724092009 en 900000000000550004 Syndrome with characteristics of variable anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant. 900000000000017005 +3430599012 20170731 1 900000000000207008 724094005 en 900000000000550004 A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polycystic kidneys. It has been described in two siblings. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible for the syndrome. 900000000000017005 +3430707017 20170731 1 900000000000207008 724098008 en 900000000000550004 Syndrome associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. 900000000000017005 +3430719013 20170731 1 900000000000207008 724099000 en 900000000000550004 In adults over 50 years of age, Fanconi syndrome is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. Prevalence is unknown but around 100 cases have been described in the literature so far. Onset occurs during adulthood: bone pain related to osteomalacia secondary to hypophosphatemia and progressive chronic renal failure are the usual manifestations. These manifestations may precede the diagnosis of a slowly progressive plasma cell disorder by several years. In most cases, the monoclonal kappa light chain is restricted to the V kappa-1 subgroup and bears non-polar or hydrophobic mutations in the variable domain, which induce resistance to cathepsin proteolysis in the proximal tubular cells and promote crystallization of the variable domain within the endolysosomal compartment. 900000000000017005 +3430720019 20170731 1 900000000000207008 724099000 en 900000000000550004 In adults over 50 years of age, Fanconi syndrome is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. Prevalence is unknown but around 100 cases have been described in the literature so far. Onset occurs during adulthood: bone pain related to osteomalacia secondary to hypophosphataemia and progressive chronic renal failure are the usual manifestations. These manifestations may precede the diagnosis of a slowly progressive plasma cell disorder by several years. In most cases, the monoclonal kappa light chain is restricted to the V kappa-1 subgroup and bears non-polar or hydrophobic mutations in the variable domain, which induce resistance to cathepsin proteolysis in the proximal tubular cells and promote crystallisation of the variable domain within the endolysosomal compartment. 900000000000017005 +3430964017 20170731 1 900000000000207008 724137002 en 900000000000550004 A very rare genetic overgrowth/obesity syndrome with characteristics of macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. 900000000000017005 +3430991015 20170731 1 900000000000207008 724138007 en 900000000000550004 Belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidemia and mitochondrial myopathy. Less than 10 cases have been described so far. A 656C-->T mutation in the nuclear pseudouridine synthase 1 gene (PUS1), localized to 12q24.33, has recently been identified in some patients. Deficient pseudouridylation of mitochondrial tRNAs may be responsible for the oxidative phosphorylation disorder. Transmission is autosomal recessive. 900000000000017005 +3430992010 20170731 1 900000000000207008 724138007 en 900000000000550004 Belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia and mitochondrial myopathy. Less than 10 cases have been described so far. A 656C-->T mutation in the nuclear pseudouridine synthase 1 gene (PUS1), localised to 12q24.33, has recently been identified in some patients. Deficient pseudouridylation of mitochondrial tRNAs may be responsible for the oxidative phosphorylation disorder. Transmission is autosomal recessive. 900000000000017005 +3431020018 20170731 1 900000000000207008 724140002 en 900000000000550004 A very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. It has been reported in a father and his son. Bone dysplasia has characteristics of diaphyseal thickening of the long bones, metaphyseal deformation and epiphyseal irregularities. Eye defects consisted of myopia, microspherophakia, lens coloboma and luxation and retinal detachment. The affected patients have normal mental development. 900000000000017005 +3431036016 20170731 1 900000000000207008 724141003 en 900000000000550004 Syndrome that has characteristics of severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. There is evidence this syndrome is caused by homozygous mutation in the ZNF335 gene on chromosome 20q13. 900000000000017005 +3431068012 20170731 1 900000000000207008 724142005 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21). 900000000000017005 +3431099013 20170731 1 900000000000207008 724144006 en 900000000000550004 A teratogenic embryofetopathy that results from maternal exposition to methimazole in the first trimester of pregnancy. Methimazole is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, methimazole may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short up slanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia. 900000000000017005 +3431100017 20170731 1 900000000000207008 724144006 en 900000000000550004 A teratogenic embryofetopathy that results from maternal exposition to methimazole in the first trimester of pregnancy. Methimazole is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, methimazole may result in choanal atresia, oesophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short up slanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia. 900000000000017005 +3431108012 20170731 1 900000000000207008 724145007 en 900000000000550004 Syndrome with characteristics of metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. There is evidence this syndrome is caused by heterozygous duplication resulting in a gain of function in the RUNX2 gene on chromosome 6p21. 900000000000017005 +3431154015 20170731 1 900000000000207008 724147004 en 900000000000550004 A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome. The characteristics of this syndrome are progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect and ureteral anomalies. To date 5 unrelated patients have been reported, including one family with multiple affected persons. This syndrome is due to a non-recurrent microdeletion in 8q13. All patients have a deletion of two contiguous genes: SULF1 and SLCO5A1. Transmitted as an autosomal dominant trait. 900000000000017005 +3431477014 20170731 1 900000000000207008 724170007 en 900000000000550004 A novel and distinct form of non-syndromic syndactyly including complete syndactyly of the third and fourth fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the second and third toes and fifth finger clinodactyly. It has been described in two families. The locus for this complex limb malformation was mapped to chromosome 17p13.3. The condition is transmitted as an autosomal recessive trait. 900000000000017005 +3431496013 20170731 1 900000000000207008 724172004 en 900000000000550004 A form of neuroacanthocytosis with clinical characteristics of a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. The disorder is very rare and a few hundred cases are suspected worldwide. About one third of patients present with chorea indistinguishable from that observed in Huntington disease and most patients will develop chorea during the course of the disease. Caused by mutations of the XK gene (Xp21.1) encoding the XK protein, which includes the Kx erythrocyte antigen. Most pathogenic mutations are nonsense mutations or deletions predicting an absent or shortened XK protein lacking the Kell protein-binding site. 900000000000017005 +3431503012 20170731 1 900000000000207008 724173009 en 900000000000550004 A mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation. The syndrome features the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis, muscle weakness, myalgia and exercise intolerance. 900000000000017005 +3431516012 20170731 1 900000000000207008 724174003 en 900000000000550004 A very rare syndrome with characteristics of the association of Mobius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. All of the reported cases were sporadic. 900000000000017005 +3431523013 20170731 1 900000000000207008 724175002 en 900000000000550004 A very rare form of superficial corneal dystrophy with characteristics of feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. Exact prevalence of this form of corneal dystrophy is not known but very few cases have been reported to date. Lesions generally develop in childhood. Epithelial opacities are slowly progressive and painless blurred vision sometimes occurs after 60 years of age. The exact cause is unknown but appears to be genetic. The gene related to Lisch epithelial corneal dystrophy has been mapped to the short arm of the X chromosome (Xp22.3). 900000000000017005 +3431535012 20170731 1 900000000000207008 724176001 en 900000000000550004 Syndrome that has characteristics of loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). The syndrome has been described in only one family with three affected siblings. Other clinical signs are joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, and micrognathia. One sibling also showed insulin-resistant diabetes mellitus. The syndrome is due to a combined decreased action of insulin, insulin-like growth factor I (IGF-1) and epidermal growth factor (EGF). The disease shows common clinical characteristics with Werner syndrome. 900000000000017005 +3431555013 20170731 1 900000000000207008 724177005 en 900000000000550004 A hereditary disorder associated with impaired DNA double-strand break repair mechanisms with characteristics of microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency. Caused by mutations in the LIG4 gene (13q22-q34). The resulting defect of DNA ligase IV, a component of the classical non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive. 900000000000017005 +3431569013 20170731 1 900000000000207008 724178000 en 900000000000550004 This syndrome has characteristics of congenital and permanent laryngeal abductor paralysis and mental deficiency. It has been described in several families. X-linked inheritance is likely. 900000000000017005 +3431587011 20170731 1 900000000000207008 724179008 en 900000000000550004 This syndrome has characteristics of severe growth retardation associated with immunodeficiency. Less than 10 cases have been described in literature. Individuals present with typical clinical and biochemical features of Laron syndrome such as post-natal growth retardation, delayed bone age and facial dysmorphism (prominent forehead, hypoplastic nasal bridge), and low serum IGF-1 concentrations with normal or high GH concentrations. Immunodeficiency has manifestations of moderate lymphopenia which leads to recurrent infections of the skin and respiratory tract. The syndrome is due to mutation in the signal transducer and activator of transcription 5b gene (STAT5b). Transmission is autosomal recessive. 900000000000017005 +3432336011 20170731 1 900000000000207008 724206005 en 900000000000550004 A basal subtype of epidermolysis bullosa simplex characterized by generalized or, less frequently, localized acral blistering. 19 cases have been reported to date. Onset of the disease is usually at birth. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles) and rarely ichthyotic plaques. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14. Transmission is autosomal recessive. 900000000000017005 +3432337019 20170731 1 900000000000207008 724206005 en 900000000000550004 A basal subtype of epidermolysis bullosa simplex characterised by generalised or, less frequently, localised acral blistering. 19 cases have been reported to date. Onset of the disease is usually at birth. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles) and rarely ichthyotic plaques. Extracutaneous involvement is common, including anaemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14. Transmission is autosomal recessive. 900000000000017005 +3432348014 20170731 1 900000000000207008 724207001 en 900000000000550004 A genetic disorder with characteristics of intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. The syndrome is caused by either a point mutation in the euchromatic histone-lysine N-methyltransferase 1 (EHMT1) gene (rarely) or by a microdeletion in the chromosome region 9q34.3 (seen in more than 85% of cases), leading to the loss of the entire gene. This gene encodes an enzyme that modifies histone function and is essential for normal development. Larger deletions (greater than 1mb) are associated with more severe symptoms. 900000000000017005 +3432367013 20170731 1 900000000000207008 724208006 en 900000000000550004 Syndrome with characteristics of diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling of the long bones and calcification of the spinal column vertebrae have also been reported. The dysmorphism is characterised by an elongated face with maxillary and midface hypoplasia. Other associated features may include hearing loss and recurrent otitis and/or sinusitis, mild intellectual deficit, frequent respiratory infections, nasal speech and, more rarely, seizures and short stature. The syndrome is caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). The syndrome is transmitted as an autosomal recessive trait. 900000000000017005 +3432824013 20170731 1 900000000000207008 724224007 en 900000000000550004 Syndrome with the association of palmoplantar keratosis and clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. 900000000000017005 +3432833010 20170731 1 900000000000207008 724225008 en 900000000000550004 A subtype of junctional epidermolysis bullosa (JEB) with characteristics of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. Postinflammatory hypopigmentation or dyspigmentation may be striking in some patients. A generalized subtype with atrophic scarring and more extensive extracutaneous involvement has been described as well as a milder localized subtype. Caused by mutations in the COL17A1 (10q24.3) and LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31) genes. The condition follows an autosomal recessive pattern of inheritance. 900000000000017005 +3432833010 20210731 0 900000000000207008 724225008 en 900000000000550004 A subtype of junctional epidermolysis bullosa (JEB) with characteristics of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. Postinflammatory hypopigmentation or dyspigmentation may be striking in some patients. A generalized subtype with atrophic scarring and more extensive extracutaneous involvement has been described as well as a milder localized subtype. Caused by mutations in the COL17A1 (10q24.3) and LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31) genes. The condition follows an autosomal recessive pattern of inheritance. 900000000000017005 +3432834016 20170731 1 900000000000207008 724225008 en 900000000000550004 A subtype of junctional epidermolysis bullosa (JEB) with characteristics of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. Postinflammatory hypopigmentation or dyspigmentation may be striking in some patients. A generalised subtype with atrophic scarring and more extensive extracutaneous involvement has been described as well as a milder localised subtype. Caused by mutations in the COL17A1 (10q24.3) and LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31) genes. The condition follows an autosomal recessive pattern of inheritance. 900000000000017005 +3432834016 20210731 0 900000000000207008 724225008 en 900000000000550004 A subtype of junctional epidermolysis bullosa (JEB) with characteristics of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. Postinflammatory hypopigmentation or dyspigmentation may be striking in some patients. A generalised subtype with atrophic scarring and more extensive extracutaneous involvement has been described as well as a milder localised subtype. Caused by mutations in the COL17A1 (10q24.3) and LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31) genes. The condition follows an autosomal recessive pattern of inheritance. 900000000000017005 +3432881015 20170731 1 900000000000207008 724227000 en 900000000000550004 A hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. Some patients show intellectual deficit. Epilepsy is a late manifestation and seizures may be life threatening. Caused by mutations in the C10orf2 gene (10q24) encoding the mitochondrial helicase Twinkle. The c.1523A>G (p.Y508C) causative mutation has been postulated to be a founder mutation. The mutations lead to mtDNA depletion in the brain and the liver but not in the muscle. Inherited in an autosomal recessive manner. 900000000000017005 +3432899011 20170731 1 900000000000207008 724228005 en 900000000000550004 This syndrome has characteristics of intellectual deficit, calcification of the choroid plexus and elevated levels of cerebrospinal fluid protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities. 900000000000017005 +3433436017 20170731 1 900000000000207008 724274009 en 900000000000550004 Infant epilepsy with migrant focal crisis is characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography scan and magnetic resonance imaging. The etiology is unknown. 900000000000017005 +3433437014 20170731 1 900000000000207008 724274009 en 900000000000550004 Infant epilepsy with migrant focal crisis is characterised by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalised tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography scan and magnetic resonance imaging. The aetiology is unknown. 900000000000017005 +3433493010 20170731 1 900000000000207008 724276006 en 900000000000550004 A severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement and infections. The syndrome usually develops during the first few days or weeks of life and affects exclusively boys. Caused by mutations in the FOXP3 gene (Xp11.23). This gene codes for a forkhead transcription factor which controls the development and function of CD4+ CD25+ regulatory T cells, a major lymphocyte population involved in downregulation of immune responses and self-tolerance. Transmission is X-linked recessive. 900000000000017005 +3433494016 20170731 1 900000000000207008 724276006 en 900000000000550004 A severe congenital systemic autoimmune disease characterised by refractory diarrhoea, endocrinopathies, cutaneous involvement and infections. The syndrome usually develops during the first few days or weeks of life and affects exclusively boys. Caused by mutations in the FOXP3 gene (Xp11.23). This gene codes for a forkhead transcription factor which controls the development and function of CD4+ CD25+ regulatory T cells, a major lymphocyte population involved in downregulation of immune responses and self-tolerance. Transmission is X-linked recessive. 900000000000017005 +3433505010 20170731 1 900000000000207008 724277002 en 900000000000550004 Syndrome with characteristics of congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase on chromosome 11q24. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. 900000000000017005 +3433522012 20170731 1 900000000000207008 724278007 en 900000000000550004 A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance. 900000000000017005 +3433544019 20170731 1 900000000000207008 724279004 en 900000000000550004 This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalized edema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene on chromosome 3q23, encoding a mitochondrial ribosomal protein 900000000000017005 +3433545018 20170731 1 900000000000207008 724279004 en 900000000000550004 This syndrome is characterised by severe hypotonia, lactic acidaemia and congenital hyperammonaemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalised oedema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene on chromosome 3q23, encoding a mitochondrial ribosomal protein. 900000000000017005 +3433562011 20170731 1 900000000000207008 724281002 en 900000000000550004 Syndrome with the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. It has been described in two males. Additional features included bilateral inguinal hernias, undescended testes, and impaired vision with cataracts and colobomata. 900000000000017005 +3433590010 20170731 1 900000000000207008 724282009 en 900000000000550004 An inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. The exact prevalence is unknown, but the disease is considered to be very rare. Patients may present at any age with hypocalcemia, tetany, or afebrile convulsions. Hearing loss is usually bilateral and may range from mild to profound impairment. Renal disease manifestations include nephrotic syndrome, cystic kidney, renal dysplasia, hypoplasia or aplasia, pelvicalyceal deformity, vesicoureteral reflux, chronic renal failure, hematuria, proteinuria and renal scarring. The defect in the majority of cases was mapped to chromosome 10p (10pter-p13 region or 10p14-p15.1). Haploinsufficiency (deletions) of zinc-finger transcription factor GATA3, or mutations in the GATA3 gene appear to be the underlying cause of this syndrome. 900000000000017005 +3433591014 20170731 1 900000000000207008 724282009 en 900000000000550004 An inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. The exact prevalence is unknown, but the disease is considered to be very rare. Patients may present at any age with hypocalcaemia, tetany, or afebrile convulsions. Hearing loss is usually bilateral and may range from mild to profound impairment. Renal disease manifestations include nephrotic syndrome, cystic kidney, renal dysplasia, hypoplasia or aplasia, pelvicalyceal deformity, vesicoureteral reflux, chronic renal failure, haematuria, proteinuria and renal scarring. The defect in the majority of cases was mapped to chromosome 10p (10pter-p13 region or 10p14-p15.1). Haploinsufficiency (deletions) of zinc-finger transcription factor GATA3, or mutations in the GATA3 gene appear to be the underlying cause of this syndrome. 900000000000017005 +3433643018 20170731 1 900000000000207008 724283004 en 900000000000550004 Syndrome with characteristics of slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. So far, around 20 cases have been reported in the literature. The syndrome affects both males and females and onset occurs in infancy or early childhood. Caused by mutation in the TUBB4A gene on chromosome 19p13. 900000000000017005 +3433663013 20170731 1 900000000000207008 724284005 en 900000000000550004 A rare genetic disease with characteristics of hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Limb features include fifth-finger clinodactyly, pes adductus, mild interdigital webbing. Urogenital features include bilateral cryptorchidism and shawl scrotum in males. Other manifestations include umbilical hernia/omphalocele and cardiac defects. Psychomotor development is normal. 900000000000017005 +3434249015 20170731 1 900000000000207008 724344004 en 900000000000550004 The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI. 900000000000017005 +3434282017 20170731 1 900000000000207008 724349009 en 900000000000550004 Disease characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant. 900000000000017005 +3434283010 20170731 1 900000000000207008 724349009 en 900000000000550004 Disease characterised by congenital joint contractures (normalising during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant. 900000000000017005 +3434319019 20170731 1 900000000000207008 724350009 en 900000000000550004 A very rare inherited hair loss disorder with characteristics of sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axilla and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. Evidence suggests this syndrome is caused by homozygous mutation in the desmocollin-3 gene on chromosome 18q12. 900000000000017005 +3434361013 20170731 1 900000000000207008 724351008 en 900000000000550004 A hereditary neurological disorder with characteristics of excessive startle responses. The disease manifests shortly after birth with violent jerking to noise and touch, and massive and sustained stiffening of the trunk and limbs, clenching fists, and attacks of a high frequency trembling. Motor milestones are often mildly delayed, but intellectual development is usually normal. Mutations in the GLRA1 gene (5q32) are found in about 30% of patients. These mutations are transmitted as an autosomal dominant or recessive trait. The GLRA1 gene encodes the alpha1 subunit of the juvenile neuronal receptor for the inhibitory neurotransmitter, glycine. Mutations of this subunit cause a variety of dysfunctions of the neuronal chloride (Cl-) channel. Mutations in the GLRB, GPHN and SLC6A5 genes (4q31.3, 14q24 and 11p15.2-p15.1) have also been observed. 900000000000017005 +3434472016 20170731 1 900000000000207008 724356003 en 900000000000550004 A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and skeletal anomalies (stippling of the long bones, shortness of the distal phalanges of the fingers, osteoporosis) and pseudoxanthoma elasticum-like syndrome. This disease is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase (GGCX; 2p12) or the vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1; 16p11.2). These two proteins are necessary for gamma-carboxylation, a postsynthetic modification that allows coagulation proteins to display their proper function. 900000000000017005 +3434558011 20170731 1 900000000000207008 724357007 en 900000000000550004 Describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Clinical features depend on the disease type. Most forms of HCHWA (Dutch, Arctic, Piedmont, Iowa, Flemish and Italian) are due to a point-mutation in the APP gene on chromosome 21q21.2, which encodes the beta-amyloid precursor protein. This mutation causes increased accumulation of amyloid-beta protein in the walls of cerebral arteries and capillaries. Only one form of HCHWA, Icelandic type, is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C. 900000000000017005 +3434559015 20170731 1 900000000000207008 724357007 en 900000000000550004 Describes a group of rare familial central nervous system disorders characterised by amyloid deposition in the cerebral blood vessels leading to haemorrhagic and non-haemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Clinical features depend on the disease type. Most forms of HCHWA (Dutch, Arctic, Piedmont, Iowa, Flemish and Italian) are due to a point-mutation in the APP gene on chromosome 21q21.2, which encodes the beta-amyloid precursor protein. This mutation causes increased accumulation of amyloid-beta protein in the walls of cerebral arteries and capillaries. Only one form of HCHWA, Icelandic type, is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C. 900000000000017005 +3434643010 20170731 1 900000000000207008 724361001 en 900000000000550004 Syndrome that is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. Mutations in the gene coding PML nuclear body protein Sp110 on chromosome 2q37 were found to be responsible for this association. Transmission is autosomal recessive. 900000000000017005 +3434644016 20170731 1 900000000000207008 724361001 en 900000000000550004 Syndrome that is characterised by the association of severe hypogammaglobulinaemia, combined T and B cell immunodeficiency, absent lymph node germinal centres, absent tissue plasma cells and hepatic veno-occlusive disease. Mutations in the gene coding PML nuclear body protein Sp110 on chromosome 2q37 were found to be responsible for this association. Transmission is autosomal recessive. 900000000000017005 +3434686010 20170731 1 900000000000207008 247592009 en 900000000000550004 Limited recall of recent events 900000000000017005 +3434687018 20170731 1 900000000000207008 247588002 en 900000000000550004 Limited recall of long past events 900000000000017005 +3434949012 20170731 1 900000000000207008 724383002 en 900000000000550004 A rare dystonia with a combination of hemidystonia involving one half of the body and hemiatrophy on the same side. Hemidystonia which is sustained and repetitive muscle contractions resulting in abnormal movements or posture involving a single side of the body is preceded in 90% of cases by hemiparesis with a marked improvement before the onset of hemidystonia. Pyramidal syndrome and seizures may also be observed. The syndrome is associated with ipsilateral somatic atrophy. Common causes are childbirth or perinatal complications, delayed sequelae of stroke or head trauma. This syndrome should be differentiated from other causes of primary dystonia or dystonia secondary to inherited disorders or neurodegenerative diseases. 900000000000017005 +3434968010 20170731 1 900000000000207008 724384008 en 900000000000550004 A rare autosomal dominant inherited chorioretinal degenerative disease presenting at birth or during infancy. The disease has characteristics of progressive bilateral retinal and choroidal atrophy which appears as lesions on the optic nerve and peripheral ocular fundus and leads to loss of central vision. Congenital anterior polar cataracts are sometimes associated with this disease. There is evidence this disease is caused by heterozygous mutation in the TEA domain family member-1 gene (TEAD1) on chromosome 11p15. 900000000000017005 +3436850014 20170731 1 900000000000207008 25201000119104 en 900000000000550004 Condition with either the sacralisation of the lowest lumbar segment or the lumbarisation of the most superior sacral segment of the spine. 900000000000017005 +3437022017 20170731 1 900000000000207008 725029001 en 900000000000550004 A phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. Four cases have been described in two families. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip. Affected individuals have mild to moderate intellectual deficit. A homozygous nonsense mutation in the human aristaless-like 4 (ALX4, 11p11.2) gene was identified in both families. The condition is transmitted as an autosomal recessive trait. 900000000000017005 +3437062018 20170731 1 900000000000207008 725030006 en 900000000000550004 A rare craniosynostosis syndrome with characteristics of scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. It has been reported in 11 patients from a three-generation family. The patients had variable dysmorphic features including high forehead, marked midface hypoplasia with severe maxillary retrusion, relative or absolute prognathism, and malocclusion. More severely affected patients were male and had intellectual disability. Molecular analysis revealed a K526E mutation of the fibroblast growth factor receptor 2 gene FGFR2. 900000000000017005 +3437079012 20170731 1 900000000000207008 725031005 en 900000000000550004 A form of familial primary hypomagnesemia characterized by low serum magnesium values but inappropriate normal urinary magnesium values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. Less than 20 cases have been described in the literature. Caused by mutations in either CNNM2 (10q23.32) or EGF (4q25). CNNM2 encodes cyclin M2, a ubiquitous protein, predominantly expressed in the thick ascending limb of Henle's loop and in the renal distal convoluted tubule where it is thought to contribute to a magnesium-sensing mechanism. 900000000000017005 +3437079012 20220630 0 900000000000207008 725031005 en 900000000000550004 A form of familial primary hypomagnesemia characterized by low serum magnesium values but inappropriate normal urinary magnesium values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. Less than 20 cases have been described in the literature. Caused by mutations in either CNNM2 (10q23.32) or EGF (4q25). CNNM2 encodes cyclin M2, a ubiquitous protein, predominantly expressed in the thick ascending limb of Henle's loop and in the renal distal convoluted tubule where it is thought to contribute to a magnesium-sensing mechanism. 900000000000017005 +3437080010 20170731 1 900000000000207008 725031005 en 900000000000550004 A form of familial primary hypomagnesaemia characterised by low serum magnesium values but inappropriate normal urinary magnesium values (i.e. renal hypomagnaesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. Less than 20 cases have been described in the literature. Caused by mutations in either CNNM2 (10q23.32) or EGF (4q25). CNNM2 encodes cyclin M2, a ubiquitous protein, predominantly expressed in the thick ascending limb of Henle's loop and in the renal distal convoluted tubule where it is thought to contribute to a magnesium-sensing mechanism. 900000000000017005 +3437080010 20220630 0 900000000000207008 725031005 en 900000000000550004 A form of familial primary hypomagnesaemia characterised by low serum magnesium values but inappropriate normal urinary magnesium values (i.e. renal hypomagnaesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. Less than 20 cases have been described in the literature. Caused by mutations in either CNNM2 (10q23.32) or EGF (4q25). CNNM2 encodes cyclin M2, a ubiquitous protein, predominantly expressed in the thick ascending limb of Henle's loop and in the renal distal convoluted tubule where it is thought to contribute to a magnesium-sensing mechanism. 900000000000017005 +3437139017 20170731 1 900000000000207008 725034002 en 900000000000550004 Disease that is characterized by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular acute myelogenous leukemia. The prevalence is unknown but the disease has been reported in less than 20 families. Causative mutations have been identified in the RUNX1 gene (also known as AML1 or CBFA2; chromosome 21q22.3) in most of the analysed families. The condition is inherited as an autosomal dominant trait. 900000000000017005 +3437140015 20170731 1 900000000000207008 725034002 en 900000000000550004 Disease that is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular acute myelogenous leukaemia. The prevalence is unknown but the disease has been reported in less than 20 families. Causative mutations have been identified in the RUNX1 gene (also known as AML1 or CBFA2; chromosome 21q22.3) in most of the analysed families. The condition is inherited as an autosomal dominant trait. 900000000000017005 +3437155012 20170731 1 900000000000207008 725035001 en 900000000000550004 A very rare form of familial partial lipodystrophy of unknown etiology characterized by loss of adipose tissue that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated 900000000000017005 +3437156013 20170731 1 900000000000207008 725035001 en 900000000000550004 A very rare form of familial partial lipodystrophy of unknown aetiology characterised by loss of adipose tissue that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated 900000000000017005 +3437357013 20170731 1 900000000000207008 725042001 en 900000000000550004 A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. Caused by homozygous mutation in the titin gene (TTN). 900000000000017005 +3437376010 20170731 1 900000000000207008 725043006 en 900000000000550004 A form of limb-girdle muscular dystrophy with onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures and myopia. Caused by homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. 900000000000017005 +3437397011 20170731 1 900000000000207008 725044000 en 900000000000550004 An extremely rare form of congenital disorder of glycosylation with clinical characteristics in the single reported case of muscle weakness, waddling gait and dilated cardiomyopathy. Caused by homozygous mutation in the DPM3 gene on chromosome 1q22. 900000000000017005 +3437405012 20170731 1 900000000000207008 725045004 en 900000000000550004 A disorder of sex development associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. The disorder is heterogeneous and associated with partial abnormality of both Leydig cell and Sertoli cell function that may result from deletions or point mutations in the SRY gene or dose sensitive sex (NR0B1) locus duplication on the X chromosome. More important are mutations in steroidogenic factor 1 (SF1, NR5A1, Ad4BP). SF-1 is a nuclear receptor and regulator of multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Therefore, affected patients may also have adrenal insufficiency. Syndromic forms have been associated with WT-1 mutations, which lead to variable testicular dysgenesis and an increased risk of renal abnormalities, namely Wilms tumors or nephrotic syndrome. 900000000000017005 +3437434018 20170731 1 900000000000207008 725046003 en 900000000000550004 A rare disorder leading to a deficiency of complex I of the respiratory chain with characteristics of neurological dysfunction, hepatic failure and cardiomyopathy. Caused by a mutation in the ACAD9 gene (3q21.3) that encodes the protein ACAD9. This protein has only relatively recently been described but is quite widely expressed in tissues and has activity as an acyl-CoA dehydrogenase with overlapping substrate specificity with very long-chain acyl-CoA dehydrogenase (VLCAD). It also acts an assembly factor for complex I of the respiratory chain and therefore has a vital role in the production of a functioning mitochondrial respiratory chain. The mode of inheritance is autosomal recessive. 900000000000017005 +3437445015 20170731 1 900000000000207008 725047007 en 900000000000550004 A severe early-onset form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. Onset occurs in the neonatal period or early infancy with a clinical picture including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency. However, nerve conduction velocities and pathological findings from sural nerve biopsies are indicative of a predominantly axonal neuropathy with some demyelinating features. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. 900000000000017005 +3437456015 20170731 1 900000000000207008 725048002 en 900000000000550004 An axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. It has been described exclusively in families originating from North-Western Africa. Onset occurs in the second decade of life. The disease course and severity are variable, even between affected members of the same family. In general, the disease manifests as distal muscle weakness and atrophy that progress gradually to the proximal muscles. Caused by a p.R644C missense mutation in the lamin A/C protein (encoded by the LMNA gene, 1q22). Transmitted in an autosomal recessive manner. 900000000000017005 +3437478010 20170731 1 900000000000207008 725049005 en 900000000000550004 Desmoid tumor can occur in any part of the body: extra-abdominally (neck, shoulders, upper limbs, gluteal region), abdominally (originating from muscle fascia or the abdominal/chest wall), and more rarely intra-abdominally in the mesentery or retroperitoneum. Depending on the location of the tumor, symptoms may include pain, fever and functional impairment or loss of function of the organ involved. Desmoid tumor results from the proliferation of well-differentiated myofibroblasts. The exact etiopathogenetic mechanism is still unknown, but they seem to have a multi-factorial origin with hormonal and genetic factors being involved. Somatic mutations in the CTNNB1 gene (3q21) encoding beta-catenin have been found in about 85 % of sporadic cases. 900000000000017005 +3437479019 20170731 1 900000000000207008 725049005 en 900000000000550004 Desmoid tumour can occur in any part of the body: extra-abdominally (neck, shoulders, upper limbs, gluteal region), abdominally (originating from muscle fascia or the abdominal/chest wall), and more rarely intra-abdominally in the mesentery or retroperitoneum. Depending on the location of the tumour, symptoms may include pain, fever and functional impairment or loss of function of the organ involved. Desmoid tumour results from the proliferation of well-differentiated myofibroblasts. The exact aetiopathogenetic mechanism is still unknown, but they seem to have a multi-factorial origin with hormonal and genetic factors being involved. Somatic mutations in the CTNNB1 gene (3q21) encoding beta-catenin have been found in about 85% of sporadic cases. 900000000000017005 +3437501017 20170731 1 900000000000207008 725050005 en 900000000000550004 A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13). 900000000000017005 +3437501017 20210930 0 900000000000207008 725050005 en 900000000000550004 A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13). 900000000000017005 +3437514016 20170731 1 900000000000207008 367489004 en 900000000000550004 A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive. 900000000000017005 +3437515015 20170731 1 900000000000207008 367489004 en 900000000000550004 A rare congenital disorder of bone resorption characterized by generalized skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive. 900000000000017005 +3437527017 20170731 1 900000000000207008 725041008 en 900000000000550004 Uses chair arms to get out of chair. 900000000000017005 +3437624017 20170731 1 900000000000207008 724096007 en 900000000000550004 This disease has characteristics of psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. It has been described in four children. The syndrome is caused by mutations in the MPDU1 gene on the p13.1-p12 region of chromosome 17. 900000000000017005 +3437631018 20170731 1 900000000000207008 725027004 en 900000000000550004 This syndrome has characteristics of muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. 900000000000017005 +3437638012 20170731 1 900000000000207008 725026008 en 900000000000550004 A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterized by fasting hypoglycemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive. 900000000000017005 +3437639016 20170731 1 900000000000207008 725026008 en 900000000000550004 A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterised by fasting hypoglycaemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycaemia (without hepatomegaly) associated with hyperketonaemia but without hyperalaninaemia or hyperlactacidaemia. After meals, major hyperglycaemia associated with lactate and alanine increase and hyperlipidaemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive. 900000000000017005 +3437647016 20170731 1 900000000000207008 725028009 en 900000000000550004 A form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1). 900000000000017005 +3437648014 20170731 1 900000000000207008 725028009 en 900000000000550004 A form of congenital disorders of N-linked glycosylation characterised by generalised hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinaemia with generalised oedema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1). 900000000000017005 +3437703016 20170731 1 900000000000207008 725057008 en 900000000000550004 This syndrome is characterized by nonspherocytic hemolytic anemia due to deficiency of adenosine triphosphatase (ATPase). It has been described in two kindreds, in which at least two generations were affected. The syndrome is probably transmitted as a dominant trait. 900000000000017005 +3437703016 20190731 0 900000000000207008 725057008 en 900000000000550004 This syndrome is characterized by nonspherocytic hemolytic anemia due to deficiency of adenosine triphosphatase (ATPase). It has been described in two kindreds, in which at least two generations were affected. The syndrome is probably transmitted as a dominant trait. 900000000000017005 +3437704010 20170731 1 900000000000207008 725057008 en 900000000000550004 This syndrome is characterised by nonspherocytic haemolytic anaemia due to deficiency of adenosine triphosphatase (ATPase). It has been described in two kindreds, in which at least two generations were affected. The syndrome is probably transmitted as a dominant trait. 900000000000017005 +3437704010 20190731 0 900000000000207008 725057008 en 900000000000550004 This syndrome is characterised by nonspherocytic haemolytic anaemia due to deficiency of adenosine triphosphatase (ATPase). It has been described in two kindreds, in which at least two generations were affected. The syndrome is probably transmitted as a dominant trait. 900000000000017005 +3437866019 20170731 1 900000000000207008 724226009 en 900000000000550004 This syndrome has characteristics of osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. It has been described in a brother and a sister born to nonconsanguineous Caucasian parents. The children died at the ages of 1 and 9 months, respectively. Several additional cases combining axonal dystrophy and osteopetrosis have been described. 900000000000017005 +3438263016 20170731 1 900000000000207008 724146008 en 900000000000550004 An extremely rare genetic disorder with characteristics of the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. 900000000000017005 +3438292017 20170731 1 900000000000207008 725078006 en 900000000000550004 Syndrome with characteristics of psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. The syndrome has been described in seven children. It is caused by mutations in the DPM gene (in the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1. 900000000000017005 +3438318015 20170731 1 900000000000207008 725079003 en 900000000000550004 A form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3). 900000000000017005 +3438319011 20170731 1 900000000000207008 725079003 en 900000000000550004 A form of congenital disorders of N-linked glycosylation characterised by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3). 900000000000017005 +3438497013 20170731 1 900000000000207008 725096002 en 900000000000550004 This syndrome describes a combination of malformations that include bilateral cryptomicrotia (recessed, hidden and small or absent ears), brachytelomesophalangy with short middle and distal phalanges of digits two through five, hypoplastic toenails and excess fingertip arch patterns. The syndrome has been reported in one family (mother and son). There have been no further descriptions in the literature since 1988. 900000000000017005 +3438508014 20170731 1 900000000000207008 725097006 en 900000000000550004 A severe disorder with characteristics of muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Since the first description of the disease in 1996, it has been described in less than 30 patients from 13 Italian (mainly Sardinian) families. Extensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. All patients described to date displayed facial anomalies, including a large face, chubby cheeks, a broad nose with anteverted nostrils and long philtrum and bilateral camptodactyly. Early in the neonatal period continuous hyperthermia develops (unrelated to infectious agents). Mutations in the CRLF1 gene are causative. Belongs to a group of conditions with overlapping features, including cold-induced sweating syndromes and Stüve-Wiedemann syndrome. The disease is transmitted as an autosomal recessive trait. 900000000000017005 +3438519012 20170731 1 900000000000207008 725098001 en 900000000000550004 A very rare disorder with characteristics of intrauterine growth retardation, under-ossification of the skull with large fontanelles, short limbs with absent phalanges and finger and toe syndactyly. Only 4 cases have been reported in the literature in 3 unrelated families. Dysmorphic features include narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can be observed. Prognosis is poor. 900000000000017005 +3438527015 20170731 1 900000000000207008 725099009 en 900000000000550004 An extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. 900000000000017005 +3438539011 20170731 1 900000000000207008 725100001 en 900000000000550004 Syndrome that is characterized by the specific association of large and late-closing fontanelles, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. Patients have abnormal hair, frontal bossing, hyperpigmentation with capillary hemangioma of the forehead, macrocephaly, significant hypertelorism, and a broad and prominent nose. In addition patients have Y-shaped sutural cataracts. All affected individuals have proportionate short stature but intellectual development is normal. The syndrome maps to chromosome 14q13-q21 and causative mutations have been identified in the SEC23A gene. 900000000000017005 +3438540013 20170731 1 900000000000207008 725100001 en 900000000000550004 Syndrome that is characterised by the specific association of large and late-closing fontanelles, hypertelorism, early-onset cataract and mild generalised skeletal dysplasia. Patients have abnormal hair, frontal bossing, hyperpigmentation with capillary haemangioma of the forehead, macrocephaly, significant hypertelorism, and a broad and prominent nose. In addition patients have Y-shaped sutural cataracts. All affected individuals have proportionate short stature but intellectual development is normal. The syndrome maps to chromosome 14q13-q21 and causative mutations have been identified in the SEC23A gene. 900000000000017005 +3438585014 20170731 1 900000000000207008 725103004 en 900000000000550004 A very rare bone disease reported in two siblings with characteristics of bowed tibia, hypoplastic thumbs, multiple fractures, distinctive facial features and developmental delay. There have been no further descriptions in the literature since 1993. 900000000000017005 +3438600011 20170731 1 900000000000207008 725104005 en 900000000000550004 An extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) with characteristics of symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability. 900000000000017005 +3438648012 20170731 1 900000000000207008 725105006 en 900000000000550004 A rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematoma and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. 900000000000017005 +3438649016 20170731 1 900000000000207008 725105006 en 900000000000550004 A rare haematologic disease due to defective platelet function and characterised by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, haematoma and bleeding after tooth extraction. Massive menorrhagia and chronic anaemia have also been reported. 900000000000017005 +3438667011 20170731 1 900000000000207008 724152009 en 900000000000550004 Chronic degeneration of tendon without inflammation. 900000000000017005 +3438863013 20170731 1 900000000000207008 725119006 en 900000000000550004 An area of irritated or swollen skin covering the entire surface of the skin. 900000000000017005 +3439260014 20170731 1 900000000000207008 725135004 en 900000000000550004 An extremely rare genetic combined primary immunodeficiency with characteristics of selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant auto-immune manifestations. 900000000000017005 +3439283012 20170731 1 900000000000207008 725136003 en 900000000000550004 A very rare, primary genetic immunodeficiency disorder with characteristic of partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections. 900000000000017005 +3439342011 20170731 1 900000000000207008 725138002 en 900000000000550004 PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus and Skin tag. Eleven cases have been reported. 900000000000017005 +3439343018 20170731 1 900000000000207008 725138002 en 900000000000550004 PELVIS is an acronym defining the association of Perineal haemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus and Skin tag. Eleven cases have been reported. 900000000000017005 +3439368016 20170731 1 900000000000207008 725139005 en 900000000000550004 A rare complex type of hereditary spastic paraplegia with characteristics of early-onset progressive spastic paraplegia presenting in infancy. The disease is associated with optic atrophy, fixation nystagmus and polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2. 900000000000017005 +3439395014 20170731 1 900000000000207008 725140007 en 900000000000550004 A rare developmental anomaly syndrome with characteristics of severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. 900000000000017005 +3439420011 20170731 1 900000000000207008 725142004 en 900000000000550004 A skeletal dysplasia with characteristics of short limbs, dysmorphic facies and diagnostic radiographic findings. Less than 25 affected patients have been reported. Atelosteogenesis III results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, 13 and 27-33 resulting in the translation of filamin B protein with altered biochemical properties 900000000000017005 +3439429012 20170731 1 900000000000207008 725101002 en 900000000000550004 A rare anomaly with characteristics of fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. It has been described only once in several members of a single family from Canada. The abnormality resulted in a strong pectoral girdle with lack of mobility. Movements requiring rotation or retraction of the scapula were limited, but this does not normally interfere with daily activities. 900000000000017005 +3439443019 20170731 1 900000000000207008 725145002 en 900000000000550004 An extremely rare genetic congenital heart disease with the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. There is evidence this disease is caused by heterozygous mutation in the NKX2-5 gene on chromosome 5q35. 900000000000017005 +3439452011 20170731 1 900000000000207008 725146001 en 900000000000550004 A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. To date, only six families have been reported. Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with this disease. Usually occurs in an autosomal recessive manner however, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents. 900000000000017005 +3439476015 20170731 1 900000000000207008 725148000 en 900000000000550004 An intermediate form of lichen myxedematosus (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized lichen myxedematosus (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical lichen myxedematosus is unpredictable because only a few cases have been reported. 900000000000017005 +3439477012 20170731 1 900000000000207008 725148000 en 900000000000550004 An intermediate form of lichen myxoedematosus (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxoedema or the localised form. Three clinical subtypes have been described and include scleromyxoedema without monoclonal gammopathy; localised forms with monoclonal gammopathy and/or systemic symptoms; localised forms with mixed features of the 5 subtypes of localised lichen myxoedematosus (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical lichen myxoedematosus is unpredictable because only a few cases have been reported. 900000000000017005 +3439523011 20170731 1 900000000000207008 725151007 en 900000000000550004 A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and consequently to recurrent moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Caused by a heterozygous mutation in the IFNGR2 gene on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain 2. The 186delC mutation corresponds to the first mutation conferring an AD partial IFN-gammaR2 deficiency. 900000000000017005 +3439553016 20170731 1 900000000000207008 725122008 en 900000000000550004 A progressive reduction in amplitude during a writing task 900000000000017005 +3439860016 20170731 1 900000000000207008 725157006 en 900000000000550004 A life-threatening rapidly progressive thrombotic disorder affecting mainly neonates and children that has characteristics of purpuric skin lesions and disseminated intravascular coagulation. The disease may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of acquired purpura fulminans that are classified according to triggering mechanisms: acute infectious (the most common form) and idiopathic. 900000000000017005 +3439907016 20170731 1 900000000000207008 725164008 en 900000000000550004 Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. In total, less than 40 cases of omodysplasia have been described in the literature so far, with the majority of reported cases concerning the autosomal recessive form of the disease. The etiology remains unknown but a paternally inherited paracentric inversion of 15q13 to q21.3 has been detected in one family. 900000000000017005 +3439908014 20170731 1 900000000000207008 725164008 en 900000000000550004 Omodysplasia is a rare skeletal dysplasia characterised by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalised form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. In total, less than 40 cases of omodysplasia have been described in the literature so far, with the majority of reported cases concerning the autosomal recessive form of the disease. The aetiology remains unknown but a paternally inherited paracentric inversion of 15q13 to q21.3 has been detected in one family. 900000000000017005 +3439936016 20170731 1 900000000000207008 725165009 en 900000000000550004 An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs. 900000000000017005 +3439995019 20170731 1 900000000000207008 725166005 en 900000000000550004 An autosomal recessive generalized form of omodysplasia, a rare skeletal dysplasia, with characteristics of severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs. 900000000000017005 +3439996018 20170731 1 900000000000207008 725166005 en 900000000000550004 An autosomal recessive generalised form of omodysplasia, a rare skeletal dysplasia, with characteristics of severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs. 900000000000017005 +3440654014 20170731 1 900000000000207008 725141006 en 900000000000550004 A perinatally lethal skeletal dysplasia with manifestations of severe short-limbed dwarfism, joint dislocations, clubfeet along with distinctive facies and radiographic findings. Affected neonates are stillborn or die rapidly after birth. Craniofacial dysmorphism has characteristics of prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate. There is a continuum with overlapping clinical findings between atelosteogenesis I, atelosteogenesis III and boomerang dysplasia. This disease results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B (FLNB) located to 3p14. 900000000000017005 +3440668019 20170731 1 900000000000207008 725168006 en 900000000000550004 An X-linked recessive retinal disease with characteristics of fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. A very rare disease originally reported in a family from Aland Island in the Bothnia Sea. Caused by mutations in the CACNA1F gene. Some mutations in CACNAF1 are associated with CSNB2 suggesting allelism of the two disorders. 900000000000017005 +3440708012 20170731 1 900000000000207008 725286002 en 900000000000550004 A rare autosomal recessively inherited disorder of ketone body metabolism, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and in rare cases coma. Patients are mostly asymptomatic between acute episodes. This disease requires an early diagnosis in order to avoid hypoglycemic crisis that can lead to permanent brain damage or death. Caused by homozygous or compound heterozygous mutation in the HMGCS2 gene on chromosome 1p12. 900000000000017005 +3440709016 20170731 1 900000000000207008 725286002 en 900000000000550004 A rare autosomal recessively inherited disorder of ketone body metabolism, characterised clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycaemia and in rare cases coma. Patients are mostly asymptomatic between acute episodes. This disease requires an early diagnosis in order to avoid hypoglycaemic crisis that can lead to permanent brain damage or death. Caused by homozygous or compound heterozygous mutation in the HMGCS2 gene on chromosome 1p12. 900000000000017005 +3440738018 20170731 1 900000000000207008 725287006 en 900000000000550004 A teratogenic disorder caused by exposure to retinoid during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies. 900000000000017005 +3440764012 20170731 1 900000000000207008 725289009 en 900000000000550004 An extremely severe inborn error of purine biosynthesis with clinical characteristics in the single reported case to date of profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows and shoulders and congenital blindness. In the one reported case the disease was caused by compound heterozygous mutation in the ATIC gene on chromosome 2q35. 900000000000017005 +3440783017 20170731 1 900000000000207008 725290000 en 900000000000550004 A form of combined T and B cell immunodeficiency with characteristics of severe and persistent cytomegalovirus infection and autoimmune cytopenia. Patients present before the age of one year with severe disseminated cytomegalovirus infection, which can manifest with fever and splenomegaly, and recurrent and severe co-infections including sepsis and pneumonitis. Caused by hypomorphic mutation in the RAG1 gene (11p13). This results in oligoclonal expansion of T cell receptor (TCR) gamma-delta T cells and TCR alpha-beta T cell lymphopenia. Transmission is autosomal recessive. 900000000000017005 +3440820011 20170731 1 900000000000207008 725291001 en 900000000000550004 A rare congenital hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. Caused by mutations in the P2RY12 gene (3q24-q25) which result in the premature truncation of the P2Y12 receptor or in the synthesis of a dysfunctional P2Y12 receptor. Transmission is autosomal recessive. 900000000000017005 +3440821010 20170731 1 900000000000207008 725291001 en 900000000000550004 A rare congenital haemorrhagic disorder characterised by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative haemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. Caused by mutations in the P2RY12 gene (3q24-q25) which result in the premature truncation of the P2Y12 receptor or in the synthesis of a dysfunctional P2Y12 receptor. Transmission is autosomal recessive. 900000000000017005 +3440841017 20170731 1 900000000000207008 725292008 en 900000000000550004 This syndrome has characteristics of slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely. 900000000000017005 +3440992012 20170731 1 900000000000207008 725296006 en 900000000000550004 A lysosomal storage disease with clinical characteristics of psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration or strabismus. The disease is rare in the general population but is more prevalent among Ashkenazi Jews. First signs appear during the first year of life or later, but clinical progression is usually slow. In this disease phospholipids, gangliosides and mucopolysaccharides accumulate in lysosomal inclusions, some of which resemble membranous cytoplasmic bodies found in gangliosidoses. The condition seems to be caused by anomalies in the endocytosis of membrane components towards the lysosomes. The causative gene, MCOLN1, is located in the 19p13.3-p13.2 region and encodes mucolipin-1 (MLN1), a membrane protein from the transient receptor potential (TRP) channel family. The disease is transmitted as an autosomal recessive trait. 900000000000017005 +3440999015 20170731 1 900000000000207008 725163002 en 900000000000550004 This syndrome is characterized by myoclonic epilepsy with generalized spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13). 900000000000017005 +3441000016 20170731 1 900000000000207008 725163002 en 900000000000550004 This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13). 900000000000017005 +3441622010 20170731 1 900000000000207008 416489008 en 900000000000550004 The columnar arrangement of the articular portions of the cervical vertebrae that contain a superior and inferior articular facet. 900000000000017005 +3441677018 20170731 1 900000000000207008 725351001 en 900000000000550004 A surgical cardiac procedure involving repair of the aortic valve without removing the old, damaged valve by wedging a replacement valve (within a stent) into the aortic valve’s place. 900000000000017005 +3441677018 20210131 0 900000000000207008 725351001 en 900000000000550004 A surgical cardiac procedure involving repair of the aortic valve without removing the old, damaged valve by wedging a replacement valve (within a stent) into the aortic valve’s place. 900000000000017005 +3441960016 20170731 1 900000000000207008 725390002 en 900000000000550004 A distinct form of acute myeloid leukemia in which this chromosomal anomaly is found de novo or in therapy-related cases. The disease is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. 900000000000017005 +3441961017 20170731 1 900000000000207008 725390002 en 900000000000550004 A distinct form of acute myeloid leukaemia in which this chromosomal anomaly is found de novo or in therapy-related cases. The disease is characterised by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. 900000000000017005 +3441981016 20170731 1 900000000000207008 725392005 en 900000000000550004 An adult-onset movement disorder with characteristics of bradykinesia, dysarthria and muscle rigidity. To date the disease has been observed in seven individuals in one family. Onset of symptoms is in the fourth to fifth decade of life with mild progressive dysarthria and hypokinesia. Dysdiadochokinesia is also present and muscle tone is slightly increased. Dysfunction and changes of the striatal part of the basal ganglia are visible on magnetic resonance imaging. Caused by mutation in the PDE8B gene (5q13.3-q14.1) and transmitted in an autosomal dominant manner with complete penetrance in the investigated family. 900000000000017005 +3441998016 20170731 1 900000000000207008 725393000 en 900000000000550004 A mild form of familial primary hypomagnesemia characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. Only one large pedigree with 18 affected individuals has been reported in the literature. Caused by mutations in the FXYD2 gene (11q23; mutation p.Gly41Arg) which encodes the gamma subunit of the Na+/K+-ATPase, localized on the basolateral membranes of nephron epithelial cells and expressed in the distal convoluted tubule. Transmission is autosomal dominant. 900000000000017005 +3441999012 20170731 1 900000000000207008 725393000 en 900000000000550004 A mild form of familial primary hypomagnesaemia characterised by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. Only one large pedigree with 18 affected individuals has been reported in the literature. Caused by mutations in the FXYD2 gene (11q23; mutation p.Gly41Arg) which encodes the gamma subunit of the Na+/K+-ATPase, localised on the basolateral membranes of nephron epithelial cells and expressed in the distal convoluted tubule. Transmission is autosomal dominant. 900000000000017005 +3442285018 20170731 1 900000000000207008 725407006 en 900000000000550004 A subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalized blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive. 900000000000017005 +3442286017 20170731 1 900000000000207008 725407006 en 900000000000550004 A subtype of dystrophic epidermolysis bullosa characterised by generalised cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalised blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive. 900000000000017005 +3442315011 20170731 1 900000000000207008 725408001 en 900000000000550004 A rare autosomal recessive cerebellar ataxia with characteristics of progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. This disease is mostly an adolescent onset disorder. Caused by mutations in SETX gene (9q34), encoding senataxin protein, a DNA/RNA helicase in nucleus which is implicated in DNA break repair. Mutations in the gene PIK3R5 (17p13.1) have also been implicated in the pathogenesis of this disease. Transmission is autosomal recessive. 900000000000017005 +3442326017 20170731 1 900000000000207008 725409009 en 900000000000550004 The most common form of preaxial polydactyly of fingers, a limb malformation syndrome, with characteristics of duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected and the right hand is more commonly involved than the left. 900000000000017005 +3442372018 20170731 1 900000000000207008 725411000 en 900000000000550004 A kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl's nodes, disc-space narrowing and vertebral wedging. The disease is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls. 900000000000017005 +3442404019 20170731 1 900000000000207008 725413002 en 900000000000550004 This syndrome describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness. Usually presents in 3-15 year olds that have previously been healthy and developmentally normal. It always comes after a simple febrile illness. Manifestations include the sudden onset of convulsive and recurrent focal seizures. This is followed by refractory focal epilepsy along with a decline in memory and cognition. Psychiatric disorders and occasionally motor disability can be present in some cases. In serious cases, the disease progression can lead to a vegetative or semi-conscious state or even death. There may be a genetic cause for the disease, as seen in Dravet syndrome, but as yet no causative genes have been identified. 900000000000017005 +3442422016 20170731 1 900000000000207008 725415009 en 900000000000550004 House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. 900000000000017005 +3442423014 20170731 1 900000000000207008 725415009 en 900000000000550004 House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitised in his/her domestic environment. 900000000000017005 +3442457018 20170731 1 900000000000207008 725416005 en 900000000000550004 Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes. Pathogenic mechanisms of cirrhotic cardiomyopathy are multiple and include abnormal membrane biophysical characteristics, impaired beta-adrenergic receptor signal transduction and increased activity of negative-inotropic pathways mediated by cGMP. The exact prognosis remains unclear. The extent of cirrhotic cardiomyopathy generally correlates to the degree of liver insufficiency. Reversibility is possible either pharmacological or after liver transplantation. 900000000000017005 +3442470010 20170731 1 900000000000207008 725417001 en 900000000000550004 A very rare bone disorder with clinical characteristics of short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. 900000000000017005 +3442479011 20170731 1 900000000000207008 725418006 en 900000000000550004 Syndrome that is characterized by cerebral gigantism associated with a jaw cyst basal cell nevoid syndrome. It has been reported in less than ten patients from two families. Neurological manifestations include hydrocephalus, ventricular malformation, a cerebellar syndrome, intracranial calcification, oculomotor disturbances and in some cases mild peripheral nervous disorders. 900000000000017005 +3442480014 20170731 1 900000000000207008 725418006 en 900000000000550004 Syndrome that is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome. It has been reported in less than ten patients from two families. Neurological manifestations include hydrocephalus, ventricular malformation, a cerebellar syndrome, intracranial calcification, oculomotor disturbances and in some cases mild peripheral nervous disorders. 900000000000017005 +3442499017 20170731 1 900000000000207008 725419003 en 900000000000550004 An extremely rare subtype of dystrophic epidermolysis bullosa with characteristics of blistering, which begins acrally and then progressively, spreads toward the trunk. Less than ten cases have been reported to date. Onset is usually at birth or during infancy. The centripetal progression of blister formation is slow and occurs over decades. Healing of blisters is associated with milia formation, atrophic scarring and nail dystrophy. Mucosal involvement is usually absent. The disease is caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function or to a reduction in the amounts of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. The disease follows an autosomal recessive pattern of inheritance. 900000000000017005 +3442499017 20210731 0 900000000000207008 725419003 en 900000000000550004 An extremely rare subtype of dystrophic epidermolysis bullosa with characteristics of blistering, which begins acrally and then progressively, spreads toward the trunk. Less than ten cases have been reported to date. Onset is usually at birth or during infancy. The centripetal progression of blister formation is slow and occurs over decades. Healing of blisters is associated with milia formation, atrophic scarring and nail dystrophy. Mucosal involvement is usually absent. The disease is caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function or to a reduction in the amounts of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. The disease follows an autosomal recessive pattern of inheritance. 900000000000017005 +3442515010 20170731 1 900000000000207008 725420009 en 900000000000550004 An early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development. To date, two cases have been described. The disease is caused by a mutation in the dysferlin gene (DYSF) coding for a protein involved in membrane repair. Transmission is autosomal recessive. 900000000000017005 +3442820018 20170731 1 900000000000207008 725394006 en 900000000000550004 Syndrome with characteristics of childhood-onset progressive ataxia and cerebellar atrophy. Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present. The syndrome is caused by ubiquinone deficiency. Mutations in the ADCK3/CABC1 gene on chromosome 1q42 have been detected in affected individuals. This gene is already known to play a role in ubiquinone biosynthesis in yeast. The syndrome is transmitted as an autosomal recessive trait. 900000000000017005 +3442836016 20170731 1 900000000000207008 725431001 en 900000000000550004 A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. These infections are recurrent but less severe than those seen in MSMD due to complete IFN-gammaR1 and IFN-gammaR2 deficiencies. Caused by homozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. The most common mutation is, by far, I87T. This mutation leads to the expression of IFN-gamma receptors on the cell surface with no signal transduction capacity and they therefore only show a partial response to IFN-gamma. Transmission is autosomal recessive. 900000000000017005 +3442852018 20170731 1 900000000000207008 725150008 en 900000000000550004 A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of a partial deficiency leading to impaired IFN-gamma immunity and consequently recurrent moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Caused by heterozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. Microdeletion 818del4 is by far the most common mutation and it corresponds to the first documented hotspot for a microdeletion in the human genome. It leads to the expression of IFN-gamma receptor on the cell surface with no signal transduction and therefore patients only show a partial response to IFN-gamma. Transmission is autosomal dominant. 900000000000017005 +3442862013 20170731 1 900000000000207008 725432008 en 900000000000550004 A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Only one patient has been reported with this variant to date. Caused by a homozygous mutation (R114C) in IFNGR2 on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain. This mutation leads to a residual cellular response to IFN-gamma in terms of IL12p40 production. Transmission is autosomal recessive. 900000000000017005 +3442898017 20170731 1 900000000000207008 725434009 en 900000000000550004 A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. It has been observed in 16 subjects from five distantly related sibships of a large Kuwaiti Bedouin tribe. The affected patients had no intellectual deficit. Transmitted as an autosomal recessive trait. 900000000000017005 +3443216018 20170731 1 900000000000207008 725461009 en 900000000000550004 Disease with characteristics of intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. Although the causative gene remains unknown, homozygosity mapping has allowed identification of a candidate gene region on chromosome 2q (2q14.2-q14.3). Histological studies suggest that MOPD types 1 and 3 result from a basic defect in cell proliferation and tissue differentiation. Transmitted as autosomal recessive trait. 900000000000017005 +3443239012 20170731 1 900000000000207008 725462002 en 900000000000550004 A type of central congenital hypothyroidism with characteristics of low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to thyrotropin-releasing hormone (TRH). It may or may not be observed from birth. The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Caused by mutations in the TRH receptor gene (TRHR; 8q23). 900000000000017005 +3443265011 20170731 1 900000000000207008 725463007 en 900000000000550004 A very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels. It has been reported in 3 siblings to date. Caused by a nonsense heterozygous mutation in the STEAP3/TSAP6 gene. Transmission is most likely recessive with a low expression allele. 900000000000017005 +3443266012 20170731 1 900000000000207008 725463007 en 900000000000550004 A very rare severe non-syndromic hypochromic anaemia, which is characterised by transfusion-dependent hypochromic, poorly regenerative anaemia, iron overload, resembling non-syndromic sideroblastic anaemia except for increased erythrocyte protoporphyrin levels. It has been reported in 3 siblings to date. Caused by a nonsense heterozygous mutation in the STEAP3/TSAP6 gene. Transmission is most likely recessive with a low expression allele. 900000000000017005 +3443281018 20170731 1 900000000000207008 725464001 en 900000000000550004 A rare mitochondrial disease with characteristics of adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. 900000000000017005 +3444105013 20170731 1 900000000000207008 725587007 en 900000000000550004 A congenital disorder of glycosylation with characteristics of macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. 900000000000017005 +3444113014 20170731 1 900000000000207008 725588002 en 900000000000550004 A rare variant of autosomal recessive congenital ichthyosis. Less than 20 patients are reported in the literature. Large dark scales are present on warmer skin areas such as the trunk, the scalp, and the axillary region. On affected areas, the scales are similar to those observed in lamellar ichthyosis. Caused by specific thermo-sensitive mutations in the TGM1 gene (encoding transglutaminase 1, involved in the cornification of the stratum corneum). Affected skin areas, show a clearly reduced enzyme activity in contrast to healthy skin areas that demonstrate an almost normal enzyme activity. Transmission is autosomal recessive. 900000000000017005 +3444138016 20170731 1 900000000000207008 725589005 en 900000000000550004 A genetic disorder with characteristics of formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family. 900000000000017005 +3444174013 20170731 1 900000000000207008 725590001 en 900000000000550004 A patterned dystrophy of the retinal pigment epithelium with characteristics of abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age. 900000000000017005 +3444186011 20170731 1 900000000000207008 725591002 en 900000000000550004 Disease that is characterized by massive enteric protein loss, secretory diarrhea and intolerance to enteral feeds during the first few weeks of life. It has been described in three male infants. Histochemical studies revealed a complete absence of enterocyte heparan sulfate. All three infants required total parenteral nutrition and repeated albumin infusions. 900000000000017005 +3444187019 20170731 1 900000000000207008 725591002 en 900000000000550004 Disease that is characterised by massive enteric protein loss, secretory diarrhoea and intolerance to enteral feeds during the first few weeks of life. It has been described in three male infants. Histochemical studies revealed a complete absence of enterocyte heparan sulphate. All three infants required total parenteral nutrition and repeated albumin infusions. 900000000000017005 +3444195015 20170731 1 900000000000207008 725592009 en 900000000000550004 A glomerular disease with characteristics of severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life. The disorder has been described in 15 infants from 5 families originating from Portugal, the Netherlands, Italy, Germany and Morocco. The disease is a congenital disorder where infants present at birth with nephrotic syndrome, acute renal failure (oligoanuria and proteinuria), or both. Respiratory distress and hypertension are also observed during the first days of life. Some degree of dysmorphism may be observed in some cases. Mothers do not show any renal manifestations. Caused by the transplacental transfer of nephritogenic anti-NEP antibodies (IgG1, IgG4 subtypes) from mothers with truncating mutations of the MME gene (3q25.2; coding for NEP), resulting in a functional knockout of MME. 900000000000017005 +3446177016 20170731 1 900000000000207008 34840004 en 900000000000550004 Acute tendon injury accompanied by inflammation. 900000000000017005 +3446265019 20170731 1 900000000000207008 725903003 en 900000000000550004 A rare metabolic myopathy with characteristics of episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997. 900000000000017005 +3446274017 20170731 1 900000000000207008 725904009 en 900000000000550004 A rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. 900000000000017005 +3446275016 20170731 1 900000000000207008 725904009 en 900000000000550004 A rare genetic bone development disorder characterised by normal clavicles and symmetrical generalised metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. 900000000000017005 +3446285015 20170731 1 900000000000207008 725905005 en 900000000000550004 A rare genetic renal malformation syndrome with characteristics of variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging. 900000000000017005 +3446285015 20200131 0 900000000000207008 725905005 en 900000000000550004 A rare genetic renal malformation syndrome with characteristics of variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging. 900000000000017005 +3446304015 20170731 1 900000000000207008 725906006 en 900000000000550004 A rare intellectual disability syndrome with characteristics of growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe. 900000000000017005 +3446320013 20170731 1 900000000000207008 725907002 en 900000000000550004 A form of limb-girdle muscular dystrophy presenting in the first or second decades of life with characteristics of slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function and mild cardiomyopathy. 900000000000017005 +3446333019 20170731 1 900000000000207008 725908007 en 900000000000550004 A multiple developmental anomalies syndrome with characteristics of neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. 900000000000017005 +3446342014 20170731 1 900000000000207008 725909004 en 900000000000550004 A rare benign primary endocardial tumor characterized macroscopically by its small size and highly papillar pedunculated appearance. The tumor is characterized histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischemia or thromboembolic complications (such as syncope, transient ischemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. 900000000000017005 +3446342014 20190731 0 900000000000207008 725909004 en 900000000000550004 A rare benign primary endocardial tumor characterized macroscopically by its small size and highly papillar pedunculated appearance. The tumor is characterized histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischemia or thromboembolic complications (such as syncope, transient ischemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. 900000000000017005 +3446343016 20170731 1 900000000000207008 725909004 en 900000000000550004 A rare benign primary endocardial tumour characterised macroscopically by its small size and highly papillar pedunculated appearance. The tumour is characterised histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischaemia or thromboembolic complications (such as syncope, transient ischaemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. 900000000000017005 +3446343016 20190731 0 900000000000207008 725909004 en 900000000000550004 A rare benign primary endocardial tumour characterised macroscopically by its small size and highly papillar pedunculated appearance. The tumour is characterised histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischaemia or thromboembolic complications (such as syncope, transient ischaemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. 900000000000017005 +3446355010 20170731 1 900000000000207008 725910009 en 900000000000550004 A rare congenital anorectal malformation with characteristics of an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority of malformations are found in the retro-rectal space where they communicate with or are contiguous to the rectum. 900000000000017005 +3446384018 20170731 1 900000000000207008 725911008 en 900000000000550004 A rare developmental defect during embryogenesis syndrome with characteristics of Robin sequence (micrognathia, glossoptosis, cleft palate), atrial septal defect, persistence of the left superior vena cava and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. There is evidence this syndrome is caused by mutation in the RBM10 gene on chromosome Xp11.23. 900000000000017005 +3446395012 20170731 1 900000000000207008 725912001 en 900000000000550004 A rare X-linked intellectual disability syndrome with characteristics of failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures. 900000000000017005 +3446395012 20210731 0 900000000000207008 725912001 en 900000000000550004 A rare X-linked intellectual disability syndrome with characteristics of failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures. 900000000000017005 +3446861015 20170731 1 900000000000207008 725033008 en 900000000000550004 A form of familial primary hypomagnesemia characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium wasting, hypercalciuria and kidney failure. This disease is characterized by impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of Henle's loop due to mutations in CLDN16 (3q27), which encodes claudin-16 (previously known as paracellin 1). A significant residual function is observed in several missense mutations, whereas a complete loss of claudin-16 function appears to be more severe with disease presenting earlier and often progressing to kidney failure at a significantly younger age. Transmission is autosomal recessive. 900000000000017005 +3446862010 20170731 1 900000000000207008 725033008 en 900000000000550004 A form of familial primary hypomagnesaemia characterised by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium wasting, hypercalciuria and kidney failure. This disease is characterised by impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of Henle's loop due to mutations in CLDN16 (3q27), which encodes claudin-16 (previously known as paracellin 1). A significant residual function is observed in several missense mutations, whereas a complete loss of claudin-16 function appears to be more severe with disease presenting earlier and often progressing to kidney failure at a significantly younger age. Transmission is autosomal recessive. 900000000000017005 +3447486012 20170731 1 900000000000207008 726018006 en 900000000000550004 Autosomal dominant medullary cystic kidney disease is a chronic tubulointerstitial nephropathy, which belongs to a heterogeneous group of inherited tubulo-interstitial nephritis. Less than 60 families affected have been described. Clinical onset and course are insidious. Symptoms typically appear at an average age of 28 years, when the urinary concentrating ability is markedly reduced, producing polyuria and stable low urinary osmolality in the first morning urine and lack of any compensatory effect after endonasal desmopressin. End-stage renal disease typically occurs in the third-fifth decade of life or even later. Two genes have been linked to the disease: MCKD1 (1q21) and MCKD2 (in 16p12, where the gene UMOD, encoding uromodulin or Tamm-Horsfall protein, has been identified as responsible of the disease). 900000000000017005 +3447506012 20170731 1 900000000000207008 726019003 en 900000000000550004 A rare inherited form of cutaneous melanoma with characteristics of development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. It is thought to account for about 10% of all cases of cutaneous melanoma. Tends to occur earlier than non-familial melanoma. The risk of familial melanoma is closely related to a wide range of genetic alterations in susceptibility genes but also appears to be influenced by phenotypic risk factors, such as pigmentation, freckling and sun reactions. Complex interactions between genetic and environmental factors are therefore thought to underlie the disease. The most common high-penetrance susceptibility gene implicated is CDKN2A, accounting for predisposition in approximately 20% of cases. In some affected families, susceptibility is consistent with autosomal dominant inheritance but in most cases, a polygenic mode of inheritance appears likely. 900000000000017005 +3447539010 20170731 1 900000000000207008 726021008 en 900000000000550004 A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy or early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. Caused by the isolated deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase, an enzyme of the mitochondrial trifunctional protein complex (TFP). TFP is a heterooctamer of 4 alpha and 4 beta subunits. The disease is due to mutations in the HADHA gene (2p23) that encodes for the alpha subunit of TFP. Mitochondrial trifunctional protein deficiency is clinically indistinguishable from this disease. 900000000000017005 +3447540012 20170731 1 900000000000207008 726021008 en 900000000000550004 A mitochondrial disorder of long chain fatty acid oxidation characterised in most patients by onset in infancy or early childhood with hypoketotic hypoglycaemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. Caused by the isolated deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase, an enzyme of the mitochondrial trifunctional protein complex (TFP). TFP is a heterooctamer of 4 alpha and 4 beta subunits. The disease is due to mutations in the HADHA gene (2p23) that encodes for the alpha subunit of TFP. Mitochondrial trifunctional protein deficiency is clinically indistinguishable from this disease. 900000000000017005 +3447581016 20170731 1 900000000000207008 726029005 en 900000000000550004 A rare syndrome that is classically defined by the clinical triad of fibrous dysplasia of bone, cafe-au-lait skin spots and precocious puberty. The disease can involve single or multiple skeletal sites and presents with a limp and/or pain and occasionally, a pathologic fracture. Scoliosis is common and may be progressive. The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP-regulating protein, Gs alpha. The extent of the disease is determined by the proliferation, migration and survival of the cell in which the mutation spontaneously occurs during embryonic development. The disease is rarely associated with malignancy however malignant transformation of fibrous dysplasia lesions occurs in probably less than 1% patients. 900000000000017005 +3447608015 20170731 1 900000000000207008 726031001 en 900000000000550004 Syndrome with the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. 900000000000017005 +3447663014 20170731 1 900000000000207008 726032008 en 900000000000550004 An extremely rare type of short rib polydactyly syndrome with neonatal onset. The disease has characteristics of polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia ('flipper-like’ extremities), pointed metaphyses and a range of other ossification defects. Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels and atresia of the gastrointestinal and genitourinary systems. 900000000000017005 +3447663014 20210131 0 900000000000207008 726032008 en 900000000000550004 An extremely rare type of short rib polydactyly syndrome with neonatal onset. The disease has characteristics of polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia ('flipper-like’ extremities), pointed metaphyses and a range of other ossification defects. Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels and atresia of the gastrointestinal and genitourinary systems. 900000000000017005 +3447683010 20170731 1 900000000000207008 725121001 en 900000000000550004 A characteristic selective serotonin reuptake inhibitor (SSRI) discontinuation syndrome is usually mild, commences within 1 week of stopping treatment, resolves spontaneously within 3 weeks, and consists of diverse physical and psychological symptoms, the commonest being dizziness, nausea, lethargy and headache. SSRI reinstatement leads to resolution within 48 hours. 900000000000017005 +3447742018 20170731 1 900000000000207008 726051002 en 900000000000550004 A disorder of the skeletal muscles with childhood onset of myotonia. The myotonia most often occurs in the legs and can interfere with movement. There are two major forms of this disease Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. The disease is caused by mutations in the CLCN1 gene. Mutations in this gene alter the usual structure or function of chloride channels. This disruption in chloride ion flow triggers prolonged muscle contractions. 900000000000017005 +3447953015 20170731 1 900000000000207008 726078000 en 900000000000550004 A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. 900000000000017005 +3447965016 20170731 1 900000000000207008 726079008 en 900000000000550004 An extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. There is evidence that the disease is caused by heterozygous mutation in the BCMO1 gene on chromosome 16q23. 900000000000017005 +3447966015 20170731 1 900000000000207008 726079008 en 900000000000550004 An extremely rare metabolic disorder characterised clinically by skin discolouration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. There is evidence that the disease is caused by heterozygous mutation in the BCMO1 gene on chromosome 16q23. 900000000000017005 +3447997016 20170731 1 900000000000207008 726081005 en 900000000000550004 A hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. Caused by homozygous or compound heterozygous mutations in the SLC34A3 gene encoding a sodium-dependent phosphate transporter (NaPi-IIc/NPT2c). Transmission is autosomal recessive. 900000000000017005 +3447998014 20170731 1 900000000000207008 726081005 en 900000000000550004 A hereditary renal phosphate-wasting disorder characterised by hypophosphataemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. Caused by homozygous or compound heterozygous mutations in the SLC34A3 gene encoding a sodium-dependent phosphate transporter (NaPi-IIc/NPT2c). Transmission is autosomal recessive. 900000000000017005 +3448007010 20170731 1 900000000000207008 726082003 en 900000000000550004 A very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. Etiopathology is unknown. It may arise spontaneously or be associated with lymphoproliferative disorders, hepatitis C virus infection, leukocytoclastic vasculitis and hypocomplementemia. 900000000000017005 +3448008017 20170731 1 900000000000207008 726082003 en 900000000000550004 A very rare condition characterised by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-haematuria, nephrotic syndrome, renal insufficiency and haematologic malignancy. Aetiopathology is unknown. It may arise spontaneously or be associated with lymphoproliferative disorders, hepatitis C virus infection, leucocytoclastic vasculitis and hypocomplementaemia. 900000000000017005 +3448068019 20170731 1 900000000000207008 726083008 en 900000000000550004 Syndrome that is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Only five cases have been reported in the literature. The identification, by FISH, of 22q11.2 deletions in the majority of reported cases (including the original cases described by Kousseff) indicated that this syndrome is part of the variable clinical spectrum of monosomy 22q11. However, the absence of a 22q11.2 deletion in one patient suggests Kousseff syndrome to be a causally heterogeneous disorder. 900000000000017005 +3448069010 20170731 1 900000000000207008 726083008 en 900000000000550004 Syndrome that is characterised by the association of conotruncal heart defects, myelomeningocoele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Only five cases have been reported in the literature. The identification, by FISH, of 22q11.2 deletions in the majority of reported cases (including the original cases described by Kousseff) indicated that this syndrome is part of the variable clinical spectrum of monosomy 22q11. However, the absence of a 22q11.2 deletion in one patient suggests Kousseff syndrome to be a causally heterogeneous disorder. 900000000000017005 +3448171012 20170731 1 900000000000207008 725058003 en 900000000000550004 A primary headache disorder with characteristics of unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing). The disease manifests with strictly unilateral pain attacks of moderate-to-severe intensity. The typical patient may have 50 to 100 short attacks a day, lasting for 1 to 5 minutes. The attacks predominate during the daytime. Prominent, ipsilateral conjunctival injection and lacrimation regularly accompany the attacks. Trauma, arteriovenous malformations and pituitary adenoma may have a causative role. 900000000000017005 +3448203015 20170731 1 900000000000207008 726106004 en 900000000000550004 The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable. 900000000000017005 +3448204014 20170731 1 900000000000207008 726106004 en 900000000000550004 The association of X-linked Alport syndrome with leiomyomatosis of the oesophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable. 900000000000017005 +3448215016 20170731 1 900000000000207008 726107008 en 900000000000550004 A distal myopathy with characteristics of weakness in the distal upper extremities usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremities primarily in toe and ankle extensors. This disease is mainly restricted to a geographical area around the Baltic Sea and is a late adult-onset disorder. Caused by a missense change (c.1362G>A; p.E384K) in TIA1 gene (2p13) which encodes nucleolysin TIA-1 isoform p40, a key component of stress granules. Inherited as an autosomal dominant trait. 900000000000017005 +3449018016 20170731 1 900000000000207008 723592007 en 900000000000550004 MRCM reference set that associates attributes with a valid range of values. 900000000000017005 +3449018016 20190131 1 900000000000012004 723592007 en 900000000000550004 MRCM reference set that associates attributes with a valid range of values. 900000000000017005 +3449027015 20170731 1 900000000000207008 723563008 en 900000000000550004 MRCM reference set that specifies the MRCM rule reference sets that apply to the content in each module. 900000000000017005 +3449027015 20190131 1 900000000000012004 723563008 en 900000000000550004 MRCM reference set that specifies the MRCM rule reference sets that apply to the content in each module. 900000000000017005 +3449030010 20170731 1 900000000000207008 723564002 en 900000000000550004 A reference set used to specify SNOMED CT concept model rules and/or the way in which these rules should be applied. 900000000000017005 +3449030010 20190131 1 900000000000012004 723564002 en 900000000000550004 A reference set used to specify SNOMED CT concept model rules and/or the way in which these rules should be applied. 900000000000017005 +3449033012 20170731 1 900000000000207008 723577006 en 900000000000550004 MRCM reference set attribute used to specify an MRCM reference set containing SNOMED CT concept model rules that apply to a given module. 900000000000017005 +3449033012 20190131 1 900000000000012004 723577006 en 900000000000550004 MRCM reference set attribute used to specify an MRCM reference set containing SNOMED CT concept model rules that apply to a given module. 900000000000017005 +3449039011 20170731 1 900000000000207008 723566000 en 900000000000550004 MRCM reference set attribute, which uses an expression constraint to represent the set of proximal parent domain concepts. A proximal parent domain is a domain that is a proper superset of the given domain, for which no other domain is both a subset of the parent domain and a superset of the given domain. 900000000000017005 +3449039011 20190131 1 900000000000012004 723566000 en 900000000000550004 MRCM reference set attribute, which uses an expression constraint to represent the set of proximal parent domain concepts. A proximal parent domain is a domain that is a proper superset of the given domain, for which no other domain is both a subset of the parent domain and a superset of the given domain. 900000000000017005 +3449057012 20170731 1 900000000000207008 723573005 en 900000000000550004 MRCM reference set attribute which specifies the strength with which a given concept model rule should be applied. 900000000000017005 +3449057012 20190131 1 900000000000012004 723573005 en 900000000000550004 MRCM reference set attribute which specifies the strength with which a given concept model rule should be applied. 900000000000017005 +3449063015 20170731 1 900000000000207008 723575003 en 900000000000550004 MRCM reference set attribute which uses a SNOMED CT expression constraint to define the set of concepts that may be used as the value of the given attribute. 900000000000017005 +3449063015 20190131 1 900000000000012004 723575003 en 900000000000550004 MRCM reference set attribute which uses a SNOMED CT expression constraint to define the set of concepts that may be used as the value of the given attribute. 900000000000017005 +3449066011 20170731 1 900000000000207008 723595009 en 900000000000550004 MRCM reference set attribute value which indicates that the given rule applies to all postcoordinated SNOMED CT content. 900000000000017005 +3449066011 20190131 1 900000000000012004 723595009 en 900000000000550004 MRCM reference set attribute value which indicates that the given rule applies to all postcoordinated SNOMED CT content. 900000000000017005 +3449069016 20170731 1 900000000000207008 723594008 en 900000000000550004 MRCM reference set attribute value which indicates that the given rule applies to all precoordinated SNOMED CT content. 900000000000017005 +3449069016 20190131 1 900000000000012004 723594008 en 900000000000550004 MRCM reference set attribute value which indicates that the given rule applies to all precoordinated SNOMED CT content. 900000000000017005 +3449072011 20170731 1 900000000000207008 723596005 en 900000000000550004 MRCM reference set attribute value which indicates that the given rule applies to all SNOMED CT content (including both precoordinated and postcoordinated). 900000000000017005 +3449072011 20190131 1 900000000000012004 723596005 en 900000000000550004 MRCM reference set attribute value which indicates that the given rule applies to all SNOMED CT content (including both precoordinated and postcoordinated). 900000000000017005 +3449075013 20170731 1 900000000000207008 723602008 en 900000000000550004 MRCM reference set attribute which represents the number of times the given attribute can be assigned a distinct (non-redundant) value within the definition of each concept or expression. 900000000000017005 +3449075013 20190131 1 900000000000012004 723602008 en 900000000000550004 MRCM reference set attribute which represents the number of times the given attribute can be assigned a distinct (non-redundant) value within the definition of each concept or expression. 900000000000017005 +3449078010 20170731 1 900000000000207008 723603003 en 900000000000550004 MRCM reference set attribute which represents the number of times the given attribute can be assigned a distinct (non-redundant) value within a single relationship group as part of the definition of a concept or expression. 900000000000017005 +3449078010 20190131 1 900000000000012004 723603003 en 900000000000550004 MRCM reference set attribute which represents the number of times the given attribute can be assigned a distinct (non-redundant) value within a single relationship group as part of the definition of a concept or expression. 900000000000017005 +3449081017 20170731 1 900000000000207008 723576002 en 900000000000550004 MRCM reference set attribute which uses a SNOMED CT expression constraint to represent the domain, range, grouped and cardinality constraints for the given attribute. 900000000000017005 +3449081017 20190131 1 900000000000012004 723576002 en 900000000000550004 MRCM reference set attribute which uses a SNOMED CT expression constraint to represent the domain, range, grouped and cardinality constraints for the given attribute. 900000000000017005 +3449084013 20170731 1 900000000000207008 723571007 en 900000000000550004 MRCM reference set attribute which represents the number of times the given attribute can be used. 900000000000017005 +3449084013 20190131 1 900000000000012004 723571007 en 900000000000550004 MRCM reference set attribute which represents the number of times the given attribute can be used. 900000000000017005 +3449087018 20170731 1 900000000000207008 723574004 en 900000000000550004 MRCM reference set attribute which indicates the type of SNOMED CT content over which the given concept model rule applies. 900000000000017005 +3449087018 20190131 1 900000000000012004 723574004 en 900000000000550004 MRCM reference set attribute which indicates the type of SNOMED CT content over which the given concept model rule applies. 900000000000017005 +3449090012 20170731 1 900000000000207008 723565001 en 900000000000550004 MRCM reference set attribute which uses a SNOMED CT expression constraint to define the set of concepts included in a given concept domain. 900000000000017005 +3449090012 20190131 1 900000000000012004 723565001 en 900000000000550004 MRCM reference set attribute which uses a SNOMED CT expression constraint to define the set of concepts included in a given concept domain. 900000000000017005 +3449096018 20170731 1 900000000000207008 723599003 en 900000000000550004 MRCM reference set attribute which represents a generic SNOMED CT expression template that may be used to author content in a given domain. 900000000000017005 +3449096018 20190131 1 900000000000012004 723599003 en 900000000000550004 MRCM reference set attribute which represents a generic SNOMED CT expression template that may be used to author content in a given domain. 900000000000017005 +3449099013 20170731 1 900000000000207008 723601001 en 900000000000550004 MRCM reference set attribute which represents a generic SNOMED CT expression template that may be used to author postcoordinated content in a given domain. 900000000000017005 +3449099013 20190131 1 900000000000012004 723601001 en 900000000000550004 MRCM reference set attribute which represents a generic SNOMED CT expression template that may be used to author postcoordinated content in a given domain. 900000000000017005 +3449102013 20170731 1 900000000000207008 723600000 en 900000000000550004 MRCM reference set attribute which represents a generic SNOMED CT expression template that may be used to author precoordinated content in a given domain. 900000000000017005 +3449102013 20190131 1 900000000000012004 723600000 en 900000000000550004 MRCM reference set attribute which represents a generic SNOMED CT expression template that may be used to author precoordinated content in a given domain. 900000000000017005 +3449105010 20170731 1 900000000000207008 723570008 en 900000000000550004 MRCM reference set attribute which uses a URL to reference a web resource in which the given concept is described in further detail. 900000000000017005 +3449105010 20190131 1 900000000000012004 723570008 en 900000000000550004 MRCM reference set attribute which uses a URL to reference a web resource in which the given concept is described in further detail. 900000000000017005 +3449108012 20170731 1 900000000000207008 723597001 en 900000000000550004 MRCM reference set attribute value which indicates that the given rule is mandatory, and not obeying this rule should result in an error. 900000000000017005 +3449108012 20190131 1 900000000000012004 723597001 en 900000000000550004 MRCM reference set attribute value which indicates that the given rule is mandatory, and not obeying this rule should result in an error. 900000000000017005 +3449111013 20170731 1 900000000000207008 723561005 en 900000000000550004 MRCM reference set which associates attributes with the domains in which they may be applied in the SNOMED CT international edition. It also allows grouping and cardinality constraints to be specified for each attribute domain combination in the SNOMED CT international edition. 900000000000017005 +3449111013 20190131 1 900000000000012004 723561005 en 900000000000550004 MRCM reference set which associates attributes with the domains in which they may be applied in the SNOMED CT international edition. It also allows grouping and cardinality constraints to be specified for each attribute domain combination in the SNOMED CT international edition. 900000000000017005 +3449114017 20170731 1 900000000000207008 723604009 en 900000000000550004 MRCM reference set which associates attributes with the domains in which they may be applied. It also allows grouping and cardinality constraints to be specified for each attribute domain combination. 900000000000017005 +3449114017 20190131 1 900000000000012004 723604009 en 900000000000550004 MRCM reference set which associates attributes with the domains in which they may be applied. It also allows grouping and cardinality constraints to be specified for each attribute domain combination. 900000000000017005 +3449117012 20170731 1 900000000000207008 723562003 en 900000000000550004 MRCM reference set which associates attributes with the valid range of values in the SNOMED CT international edition. 900000000000017005 +3449117012 20190131 1 900000000000012004 723562003 en 900000000000550004 MRCM reference set which associates attributes with the valid range of values in the SNOMED CT international edition. 900000000000017005 +3449120016 20170731 1 900000000000207008 723560006 en 900000000000550004 MRCM reference set which enumerates the concept domains used by the SNOMED CT international edition, and provides additional information to support these concept domains. 900000000000017005 +3449120016 20190131 1 900000000000012004 723560006 en 900000000000550004 MRCM reference set which enumerates the concept domains used by the SNOMED CT international edition, and provides additional information to support these concept domains. 900000000000017005 +3449123019 20170731 1 900000000000207008 723568004 en 900000000000550004 MRCM reference set attribute which uses the SNOMED CT template syntax to represent any defining attribute relationships that must be present for a concept to belong to the given domain. 900000000000017005 +3449123019 20190131 1 900000000000012004 723568004 en 900000000000550004 MRCM reference set attribute which uses the SNOMED CT template syntax to represent any defining attribute relationships that must be present for a concept to belong to the given domain. 900000000000017005 +3449126010 20170731 1 900000000000207008 723567009 en 900000000000550004 MRCM reference set attribute which uses a SNOMED CT expression constraint to represent a domain constraint as would be required for proximal primitive modelling (but excluding any necessary refinements). 900000000000017005 +3449126010 20190131 1 900000000000012004 723567009 en 900000000000550004 MRCM reference set attribute which uses a SNOMED CT expression constraint to represent a domain constraint as would be required for proximal primitive modelling (but excluding any necessary refinements). 900000000000017005 +3449129015 20170731 1 900000000000207008 723598006 en 900000000000550004 MRCM reference set attribute value which indicates that the given rule is optional and that not obeying this rule should result only in a warning. 900000000000017005 +3449129015 20190131 1 900000000000012004 723598006 en 900000000000550004 MRCM reference set attribute value which indicates that the given rule is optional and that not obeying this rule should result only in a warning. 900000000000017005 +3449132017 20170731 1 900000000000207008 723589008 en 900000000000550004 MRCM reference set which enumerates the concept domains to which SNOMED CT attributes may be applied, and provides additional information to support these concept domains. 900000000000017005 +3449132017 20190131 1 900000000000012004 723589008 en 900000000000550004 MRCM reference set which enumerates the concept domains to which SNOMED CT attributes may be applied, and provides additional information to support these concept domains. 900000000000017005 +3449135015 20170731 1 900000000000207008 723572000 en 900000000000550004 MRCM reference set attribute which indicates whether or not the given attribute is treated by a description logic reasoner as belonging to a relationship group, when applied to a concept in the given domain. 900000000000017005 +3449135015 20190131 1 900000000000012004 723572000 en 900000000000550004 MRCM reference set attribute which indicates whether or not the given attribute is treated by a description logic reasoner as belonging to a relationship group, when applied to a concept in the given domain. 900000000000017005 +3449138018 20170731 1 900000000000207008 723569007 en 900000000000550004 MRCM reference set attribute which represents a SNOMED CT expression template. 900000000000017005 +3449138018 20190131 1 900000000000012004 723569007 en 900000000000550004 MRCM reference set attribute which represents a SNOMED CT expression template. 900000000000017005 +3449292012 20170731 1 900000000000207008 726099002 en 900000000000550004 Visceral venous thrombosis is an acute, subacute, or chronic complication often occurring in patients with inherited or acquired thrombophilia. 900000000000017005 +3450373014 20170731 1 900000000000012004 726542003 en 900000000000550004 This attribute specifies the behavior that a substance will exhibit or participate in, given the appropriate context. 900000000000017005 +3450374015 20170731 1 900000000000012004 726542003 en 900000000000550004 This attribute specifies the behaviour that a substance will exhibit or participate in, given the appropriate context. 900000000000017005 +3450452010 20170731 1 900000000000207008 725433003 en 900000000000550004 Disease with characteristics of slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations. 900000000000017005 +3450924014 20170731 1 900000000000207008 726606003 en 900000000000550004 A rare complex type of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. 900000000000017005 +3450931013 20170731 1 900000000000207008 726607007 en 900000000000550004 A rare complex type of hereditary spastic paraplegia with characteristics of the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria) and bladder disturbances. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. 900000000000017005 +3450942016 20170731 1 900000000000207008 726608002 en 900000000000550004 A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. 900000000000017005 +3450942016 20210930 0 900000000000207008 726608002 en 900000000000550004 A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. 900000000000017005 +3450943014 20170731 1 900000000000207008 726608002 en 900000000000550004 A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. 900000000000017005 +3450943014 20210930 0 900000000000207008 726608002 en 900000000000550004 A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. 900000000000017005 +3450948017 20170731 1 900000000000207008 726609005 en 900000000000550004 An extremely rare and complex form of hereditary spastic paraplegia reported in only 4 patients from 2 families to date. The disease has characteristics of spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. 900000000000017005 +3450953010 20170731 1 900000000000207008 726610000 en 900000000000550004 An extremely rare and complex form of hereditary spastic paraplegia with characteristics of onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. 900000000000017005 +3450958018 20170731 1 900000000000207008 726611001 en 900000000000550004 A rare complex form of hereditary spastic paraplegia with characteristics of onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. 900000000000017005 +3450987017 20170731 1 900000000000207008 726614009 en 900000000000550004 A form of limb-girdle muscular dystrophy with characteristics of slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles and contractures of the ankles. 900000000000017005 +3450994019 20170731 1 900000000000207008 726615005 en 900000000000550004 A form of limb-girdle muscular dystrophy with characteristics of proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases. 900000000000017005 +3451001010 20170731 1 900000000000207008 726616006 en 900000000000550004 A form of limb-girdle muscular dystrophy most often with characteristics of an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood. 900000000000017005 +3451011015 20170731 1 900000000000207008 726617002 en 900000000000550004 A form of limb-girdle muscular dystrophy with characteristics of proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability. 900000000000017005 +3451018014 20170731 1 900000000000207008 726618007 en 900000000000550004 A form of limb-girdle muscular dystrophy with characteristics of an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. 900000000000017005 +3451029013 20170731 1 900000000000207008 726619004 en 900000000000550004 Syndrome with the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. 900000000000017005 +3451041018 20170731 1 900000000000207008 726620005 en 900000000000550004 An arthrogryposis syndrome described in two siblings to date with the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin) and death occurring in early infancy. There have been no further reports in the literature since 1993. 900000000000017005 +3451053019 20170731 1 900000000000207008 726621009 en 900000000000550004 Syndrome with characteristics of caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. 900000000000017005 +3451065015 20170731 1 900000000000207008 726622002 en 900000000000550004 An extremely rare, complex form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. Mutations in the VCP gene (9p13.3), encoding transitional endoplasmic reticulum ATPase, have been found to be causative for this disease. 900000000000017005 +3451081013 20170731 1 900000000000207008 726628003 en 900000000000550004 An inherited bone disorder described in 5 families in 1963 and is characterized by localized patella pain and male-to-male transmission. 900000000000017005 +3451081013 20220630 0 900000000000207008 726628003 en 900000000000550004 An inherited bone disorder described in 5 families in 1963 and is characterized by localized patella pain and male-to-male transmission. 900000000000017005 +3451082018 20170731 1 900000000000207008 726628003 en 900000000000550004 An inherited bone disorder described in 5 families in 1963 and is characterised by localised patella pain and male-to-male transmission. 900000000000017005 +3451082018 20220630 0 900000000000207008 726628003 en 900000000000550004 An inherited bone disorder described in 5 families in 1963 and is characterised by localised patella pain and male-to-male transmission. 900000000000017005 +3451118011 20170731 1 900000000000207008 726629006 en 900000000000550004 Syndrome with characteristics of congenital scalp defects and postaxial polydactyly type A. It is an extremely rare condition. The syndrome has variable manifestations with one affected person with both congenital scalp defects and postaxial polydactyly type A, 4 people with scalp defects only and 3 people who had postaxial polydactyly only. Transmission is autosomal dominant. 900000000000017005 +3451171011 20170731 1 900000000000207008 726633004 en 900000000000550004 A period of time occurring before, during and or after a clinical entity 900000000000017005 +3451171011 20180131 1 900000000000012004 726633004 en 900000000000550004 A period of time occurring before, during and or after a clinical entity 900000000000017005 +3451242019 20170731 1 900000000000207008 77386006 en 900000000000550004 Patient currently pregnant 900000000000017005 +3451242019 20210731 0 900000000000207008 77386006 en 900000000000550004 Patient currently pregnant 900000000000017005 +3451242019 20210930 1 900000000000207008 77386006 en 900000000000550004 Patient currently pregnant 900000000000017005 +3451426011 20170731 1 900000000000207008 726613003 en 900000000000550004 An acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of the dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients. 900000000000017005 +3451463019 20170731 1 900000000000207008 726669007 en 900000000000550004 This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. 900000000000017005 +3451464013 20170731 1 900000000000207008 726669007 en 900000000000550004 This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. 900000000000017005 +3451508010 20170731 1 900000000000207008 726672000 en 900000000000550004 A very rare dysmorphic syndrome described in two siblings. The syndrome has characteristics of short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears and narrow palpebral fissures with epicanthal folds and intellectual deficit. 900000000000017005 +3451874017 20170731 1 900000000000207008 726702005 en 900000000000550004 A rare mitochondrial substrate carrier disorder with characteristics of severe muscular hypotonia, seizures beginning in the first year of life and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. 900000000000017005 +3451896011 20170731 1 900000000000207008 726703000 en 900000000000550004 An extremely rare otorhinolaryngological malformation, which occurs during early embryogenesis. The disorder has characteristics of a single and on occasions multiple cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus. 900000000000017005 +3451908019 20170731 1 900000000000207008 726704006 en 900000000000550004 A multiple congenital anomaly syndrome with characteristics of sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures and joint limitation are also reported. 900000000000017005 +3451916011 20170731 1 900000000000207008 726705007 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it primarily has characteristics of significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. 900000000000017005 +3451925017 20170731 1 900000000000207008 726706008 en 900000000000550004 A rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally with characteristics of psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. 900000000000017005 +3451930018 20170731 1 900000000000207008 726707004 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7. The disorder has a highly variable phenotype that typically manifests with mild to moderate intellectual delay (patients could be in the normal range), speech (particularly expressive language disorders) and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebrows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. 900000000000017005 +3451942011 20170731 1 900000000000207008 726708009 en 900000000000550004 A rare non-syndromic potentially life-threatening visceral malformation with the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. There is evidence this disorder is caused by heterozygous mutation in the RPSA gene on chromosome 3p21. 900000000000017005 +3451974016 20170731 1 900000000000207008 726709001 en 900000000000550004 A rare genetic intellectual disability syndrome with characteristics of macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair and tall stature. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include hypothyroidism, cerebral calcification, ataxia and peripheral neuropathy. There is evidence this disease is caused by heterozygous mutation in the ZBTB20 gene on chromosome 3q13. 900000000000017005 +3452121011 20170731 1 900000000000207008 32273002 en 900000000000550004 An autoimmune coagulation disorder characterised by isolated thrombocytopaenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia. 900000000000017005 +3452161012 20170731 1 900000000000207008 726721002 en 900000000000550004 A rare, indolent B-cell non-Hodgkin lymphoma with characteristics of abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Association with Hepatitis C virus and chronic inflammation has been reported. 900000000000017005 +3452176016 20170731 1 900000000000207008 726722009 en 900000000000550004 A rare branchial arches and limb primordia development disorder with characteristics of variable degrees of uni or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. 900000000000017005 +3452193016 20170731 1 900000000000207008 726723004 en 900000000000550004 A chromosomal anomaly of chromosome 13 with characteristics of a widely variable phenotype ranging from mild to severe. Principle manifestations include intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. up-slanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies and genital abnormalities. 900000000000017005 +3452226012 20170731 1 900000000000207008 726724005 en 900000000000550004 A rare dysostosis syndrome with characteristics of abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It may also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. 900000000000017005 +3452242017 20170731 1 900000000000207008 726727003 en 900000000000550004 A rare X-linked intellectual disability syndrome characterized by onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks and mild to moderate intellectual disability. Additional less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance) and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. 900000000000017005 +3452243010 20170731 1 900000000000207008 726727003 en 900000000000550004 A rare X-linked intellectual disability syndrome characterised by onset in infancy of delayed motor and speech milestones, generalised tonic-clonic seizures and drop attacks and mild to moderate intellectual disability. Additional less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance) and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. 900000000000017005 +3452279019 20170731 1 900000000000207008 726732002 en 900000000000550004 A rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. Caused by mutation in the UBE2A gene on chromosome Xq24. 900000000000017005 +3452280016 20170731 1 900000000000207008 726732002 en 900000000000550004 A rare X-linked intellectual disability syndrome characterised by intellectual disability (with severe speech impairment), a myxoedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. Caused by mutation in the UBE2A gene on chromosome Xq24. 900000000000017005 +3452291011 20170731 1 900000000000207008 726733007 en 900000000000550004 A microdeletion syndrome resulting from a partial deletion of the chromosome X. The phenotype is highly variable (depending on length of deletion), but main manifestations include X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. 900000000000017005 +3452301018 20170731 1 900000000000207008 726734001 en 900000000000550004 Syndrome with characteristics of intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant. 900000000000017005 +3452316015 20170731 1 900000000000207008 726735000 en 900000000000550004 Syndrome with characteristics of absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents. 900000000000017005 +3452374010 20170731 1 900000000000207008 417557007 en 900000000000550004 A form of eccentric contraction designed to break adhesions using an operator-induced force to lengthen the muscle and in which, the counterforce is greater than the patient force. 900000000000017005 +3452375011 20170731 1 900000000000207008 416078007 en 900000000000550004 A concentric contraction against resistance in which the angular change of joint motion is at the same rate and the counterforce is less than the patient force. 900000000000017005 +3452377015 20170731 1 900000000000207008 416628009 en 900000000000550004 Contraction of muscle resulting in approximation of attachments. 900000000000017005 +3452378013 20170731 1 900000000000207008 416926006 en 900000000000550004 Lengthening of muscle during contraction due to an external force. 900000000000017005 +3463965012 20170731 1 900000000000207008 416680000 en 900000000000550004 Movements used to potentiate, accentuate, or compensate for an impairment in a physiologic motion (e.g., the movements needed to move a paralyzed limb). 900000000000017005 +3464475013 20170731 1 900000000000207008 724229002 en 900000000000550004 A cessation of respiratory airflow that may affect infants of 1 to 23 months old, caused by neurological impairment of the respiratory rhythm or obstruction of airflow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea. 900000000000017005 +3464476014 20170731 1 900000000000207008 724229002 en 900000000000550004 A cessation of respiratory airflow that may affect infants of 1 to 23 months old, caused by neurological impairment of the respiratory rhythm or obstruction of airflow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnoea. 900000000000017005 +3464490012 20170731 1 900000000000207008 726670008 en 900000000000550004 A multiple congenital anomalies syndrome with characteristics of moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and general bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. 900000000000017005 +3464495019 20170731 1 900000000000207008 732245008 en 900000000000550004 A rare mitochondrial disease with characteristics of exclusive skeletal muscle involvement without clinical evidence of other organ involvement. Disease manifestations are progressive limb weakness, proximal limb muscle atrophy and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia and diminished deep tendon reflexes. 900000000000017005 +3464528010 20170731 1 900000000000207008 732246009 en 900000000000550004 A rare genetic neurometabolic disease with characteristics of severe intellectual disability, spastic quadriparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter) described on magnetic resonance imaging have been reported. High prenatal alpha fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. 900000000000017005 +3464528010 20200731 0 900000000000207008 732246009 en 900000000000550004 A rare genetic neurometabolic disease with characteristics of severe intellectual disability, spastic quadriparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter) described on magnetic resonance imaging have been reported. High prenatal alpha fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. 900000000000017005 +3464564011 20170731 1 900000000000207008 732247000 en 900000000000550004 An exceedingly rare association with characteristics of cleft lip and progressive retinopathy. 900000000000017005 +3464717013 20170731 1 900000000000207008 732248005 en 900000000000550004 An extremely rare primary bone defect described only in a mother and her three daughters to date. The disease has characteristics of short stature, hip dislocation, minor vertebral and pelvic changes and microtia with hearing loss. There have been no further descriptions in the literature since 1981. 900000000000017005 +3464736015 20170731 1 900000000000207008 732249002 en 900000000000550004 A lethal bone dysplasia with characteristics of low birth weight, rhizomelic dwarfism, bent femora and short chest producing asphyxia. The disease has been described in three siblings from healthy, non-consanguineous parents of Finnish origin and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. There has been no further description of this disease in the literature since 1988. 900000000000017005 +3464763019 20170731 1 900000000000207008 732250002 en 900000000000550004 An extremely rare genetic disease reported in only two brothers to date with the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal. There have been no further reports in the literature since 1972. 900000000000017005 +3464763019 20220630 0 900000000000207008 732250002 en 900000000000550004 An extremely rare genetic disease reported in only two brothers to date with the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal. There have been no further reports in the literature since 1972. 900000000000017005 +3464791010 20170731 1 900000000000207008 732251003 en 900000000000550004 Syndrome with characteristics of cortical blindness, intellectual deficit and polydactyly. This combination was found in three children of first-cousin parents. The facial features included prominent forehead, short nose, long philtrum and microretrognathia. Two of the three children died of acute gastroenteritis. Growth and psychomotor development were severely delayed. 900000000000017005 +3464826018 20170731 1 900000000000207008 732252005 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12). 900000000000017005 +3465060019 20170731 1 900000000000207008 732259001 en 900000000000550004 A very rare chromosomal disorder of unknown prevalence with characteristics of multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2). 900000000000017005 +3465076011 20170731 1 900000000000207008 732261005 en 900000000000550004 The syndrome has been described in a single Greek Cypriot family, over three generations. There have been no further descriptions in the literature since 1992. Affected individuals have a striking facial appearance (described as Mephistophelian) and variable skeletal deformities and neuromuscular abnormalities. The facial appearance consists of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanelle, elevation of the medial portion of the eyebrows bilaterally, hypertelorism, low-set ears, posteriorly rotated ears and widow's peak. Musculoskeletal features may coexist and include congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus and arthrogryposis. Neurological and musculoskeletal defects are severe and incapacitating in some affected family members, while all have normal intelligence. The cause of this syndrome is not known. 900000000000017005 +3465117014 20170731 1 900000000000207008 732262003 en 900000000000550004 Syndrome that is characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions. 900000000000017005 +3465118016 20170731 1 900000000000207008 732262003 en 900000000000550004 Syndrome that is characterised by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Paediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions. 900000000000017005 +3465124010 20170731 1 900000000000207008 732263008 en 900000000000550004 Syndrome that was described in two siblings born to consanguineous parents in 1985 with the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report. 900000000000017005 +3465164014 20170731 1 900000000000207008 732264002 en 900000000000550004 A very rare slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) with characteristics of classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. The disease is caused by homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21. 900000000000017005 +3465261012 20170731 1 900000000000207008 732290004 en 900000000000550004 Large unstained cells is reported by laboratories when large peroxidase-negative cells cannot be characterized further as large lymphocytes, virocytes, or stem cells. 900000000000017005 +3465262017 20170731 1 900000000000207008 732290004 en 900000000000550004 Large unstained cells is reported by laboratories when large peroxidase-negative cells cannot be characterised further as large lymphocytes, virocytes, or stem cells. 900000000000017005 +3467218013 20170731 1 900000000000207008 732289008 en 900000000000550004 In semen analysis, leukocytes and immature germ cells are collectively referred to as round cells. (DOI: https://doi.org/10.1093/humupd/6.4.404) 900000000000017005 +3467221010 20170731 1 900000000000207008 417431007 en 900000000000550004 A manipulative technique in which the goal of treatment is to balance the tension in opposing ligaments where there is abnormal tension present. 900000000000017005 +3467426015 20170731 1 900000000000207008 732926009 en 900000000000550004 A multiple congenital anomalies syndrome described in two sisters and with the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. 900000000000017005 +3467480011 20170731 1 900000000000207008 732927000 en 900000000000550004 An exceedingly rare severe congenital genetic malformation disorder with characteristics of split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia and radial defects. There have been no further descriptions in the literature since 1987. 900000000000017005 +3467516013 20170731 1 900000000000207008 732928005 en 900000000000550004 An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus. 900000000000017005 +3467533018 20170731 1 900000000000207008 732929002 en 900000000000550004 A form of limb-girdle muscular dystrophy with characteristics of childhood-onset progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly ocular features (e.g. myopia, cataract) and seizures. There is evidence that this disease is caused by homozygous or compound heterozygous mutation in the TRAPPC11 gene on chromosome 4q35. 900000000000017005 +3467545010 20170731 1 900000000000207008 732930007 en 900000000000550004 A form of limb-girdle muscular dystrophy that can present from birth to early childhood, the disease has characteristics of hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. The disease is caused by homozygous or compound heterozygous mutation in the GMPPB gene, which encodes the beta subunit of GDP-mannose pyrophosphorylase, on chromosome 3p21. 900000000000017005 +3467552012 20170731 1 900000000000207008 732931006 en 900000000000550004 A form of limb-girdle muscular dystrophy with characteristics of adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block and a sinus rhythm with very rare ventricular extrasystoles have also been reported. There is evidence this may be caused by homozygous mutation in the DES gene on chromosome 2q35. 900000000000017005 +3467557018 20170731 1 900000000000207008 732932004 en 900000000000550004 A rare complex type of hereditary spastic paraplegia with characteristics of progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. This disease is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. 900000000000017005 +3467561012 20170731 1 900000000000207008 732933009 en 900000000000550004 A rare complex type of hereditary spastic paraplegia with characteristics of adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The phenotype has been mapped to a locus on chromosome 6q23-q24.1. 900000000000017005 +3472685016 20170731 1 900000000000012004 733611004 en 900000000000550004 A concept that represents the top (or root) of a SNOMED CT association hierarchy. 900000000000017005 +3472691019 20170731 1 900000000000207008 733613001 en 900000000000550004 A reference set used to define intensional subset definitions. 900000000000017005 +3472691019 20190131 1 900000000000012004 733613001 en 900000000000550004 A reference set used to define intensional subset definitions. 900000000000017005 +3472694010 20170731 1 900000000000012004 733614007 en 900000000000550004 A reference set used to record the history of how each expansion reference set was generated. 900000000000017005 +3472697015 20170731 1 900000000000207008 733615008 en 900000000000550004 The computable language (and optionally the version) used to specify the query. 900000000000017005 +3472697015 20190131 1 900000000000012004 733615008 en 900000000000550004 The computable language (and optionally the version) used to specify the query. 900000000000017005 +3472700016 20170731 1 900000000000207008 733616009 en 900000000000550004 The SNOMED CT edition (with version if relevant) used to author the query. 900000000000017005 +3472700016 20190131 1 900000000000012004 733616009 en 900000000000550004 The SNOMED CT edition (with version if relevant) used to author the query. 900000000000017005 +3472700016 20210131 0 900000000000012004 733616009 en 900000000000550004 The SNOMED CT edition (with version if relevant) used to author the query. 900000000000017005 +3472703019 20170731 1 900000000000012004 733617000 en 900000000000550004 A string of characters that may be parsed and executed to perform a query. 900000000000017005 +3472706010 20170731 1 900000000000207008 733612006 en 900000000000550004 The SNOMED CT edition (including version) over which the query was executed to produce the expansion. 900000000000017005 +3472706010 20190131 1 900000000000012004 733612006 en 900000000000550004 The SNOMED CT edition (including version) over which the query was executed to produce the expansion. 900000000000017005 +3472712017 20170731 1 900000000000012004 733619002 en 900000000000550004 A type of reference set that allocates an order to a set of SNOMED CT components. 900000000000017005 +3472766013 20170731 1 900000000000207008 733621007 en 900000000000550004 Syndrome that is characterized by primary amenorrhea, ambiguous external genitalia and bone abnormalities for example hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads. It has been described in two sisters born to consanguineous parents. 900000000000017005 +3472767016 20170731 1 900000000000207008 733621007 en 900000000000550004 Syndrome that is characterised by primary amenorrhoea, ambiguous external genitalia and bone abnormalities for example hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads. It has been described in two sisters born to consanguineous parents. 900000000000017005 +3472788013 20170731 1 900000000000207008 733622000 en 900000000000550004 A rare developmental defect during embryogenesis syndrome, with characteristics of normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), mullerian duct anomalies (for example complete absence of the uterus and vagina, bicornuate uterus) and imperforate anus. 900000000000017005 +3472806015 20170731 1 900000000000207008 733623005 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retro-micrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21). 900000000000017005 +3472821014 20170731 1 900000000000207008 733625003 en 900000000000550004 A rare Y chromosome number anomaly that affects only males. The disease has characteristics of mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males. 900000000000017005 +3472828015 20170731 1 900000000000207008 733626002 en 900000000000550004 A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X. The disease has principle characteristics of classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay and moderate to severe mental handicap. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. 900000000000017005 +3472849019 20170731 1 900000000000207008 733628001 en 900000000000550004 A rare syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with central nervous system involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported. 900000000000017005 +3472850019 20170731 1 900000000000207008 733628001 en 900000000000550004 A rare syndromic intestinal malformation characterised by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melaena. Vertebral anomalies in the lower cervical spine, with central nervous system involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported. 900000000000017005 +3472877011 20170731 1 900000000000207008 733630004 en 900000000000550004 A very rare tricarboxylic acid cycle disorder resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. 900000000000017005 +3472901012 20170731 1 900000000000207008 733637001 en 900000000000550004 An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures. 900000000000017005 +3472908018 20170731 1 900000000000207008 733636005 en 900000000000550004 An autosomal recessive form of serine deficiency. The juvenile disease has clinical characteristics in the few reported cases of absence seizures, moderate developmental delay and behavioral disorders. 900000000000017005 +3472909014 20170731 1 900000000000207008 733636005 en 900000000000550004 An autosomal recessive form of serine deficiency. The juvenile disease has clinical characteristics in the few reported cases of absence seizures, moderate developmental delay and behavioural disorders. 900000000000017005 +3472922018 20170731 1 900000000000207008 733638006 en 900000000000550004 A very rare subtype of dystrophic epidermolysis bullosa with characteristics of blistering confined primarily to the hands and feet. The disease usually manifests during infancy with trauma-induced blisters limited to extremities. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. Transmission is autosomal dominant (acral dominant dystrophic epidermolysis bullosa) or autosomal recessive (acral recessive dystrophic epidermolysis bullosa). 900000000000017005 +3473000018 20170731 1 900000000000207008 733650000 en 900000000000550004 This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. 900000000000017005 +3473408016 20170731 1 900000000000207008 239728007 en 900000000000550004 Results from abnormal knee motion (i.e. sliding of the bones) due to damage to medial collateral ligament; as a result the knee becomes more and more unstable leading to pain, swelling and the potential for further injury. 900000000000017005 +3473409012 20170731 1 900000000000207008 239723003 en 900000000000550004 Results from abnormal knee motion ( i.e. sliding of the bones} due to damage to ligament; as a result the knee becomes more and more unstable leading to pain, swelling and the potential for further injury. 900000000000017005 +3473409012 20200131 0 900000000000207008 239723003 en 900000000000550004 Results from abnormal knee motion ( i.e. sliding of the bones} due to damage to ligament; as a result the knee becomes more and more unstable leading to pain, swelling and the potential for further injury. 900000000000017005 +3474139016 20170731 1 900000000000207008 244023005 en 900000000000550004 The area of skin supplied by cutaneous branches from a single spinal nerve. 900000000000017005 +3474141015 20170731 1 900000000000207008 57214001 en 900000000000550004 Stroking movement used to move fluids or relax muscles. 900000000000017005 +3474443014 20170731 1 900000000000207008 125102002 en 900000000000550004 Mallard duck species. 900000000000017005 +3474443014 20210731 0 900000000000207008 125102002 en 900000000000550004 Mallard duck species. 900000000000017005 +3474445019 20170731 1 900000000000207008 125104001 en 900000000000550004 Greylag goose species. 900000000000017005 +3474595015 20170731 1 900000000000207008 733627006 en 900000000000550004 A rare usually aggressive subtype of cutaneous T-cell lymphoma with characteristics of infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported. 900000000000017005 +3474602016 20170731 1 900000000000207008 722183007 en 900000000000550004 The infusion of radioactive substances such as microspheres containing yttrium-90 (90Y), iodine-131 (131I) ethiodised oil, and similar agents into the hepatic artery. 900000000000017005 +3475564016 20170731 1 900000000000012004 733618005 en 900000000000550004 A type of reference set that allocates an order to a set of SNOMED CT associations. 900000000000017005 +3476157017 20170731 1 900000000000207008 733513009 en 900000000000550004 Patient position with neck rotated to left. 900000000000017005 +3476160012 20170731 1 900000000000207008 733512004 en 900000000000550004 Patient position with neck rotated to right. 900000000000017005 +3481590018 20170731 1 900000000000207008 733967009 en 900000000000550004 A local anesthetic injection into the thoracic paravertebral space in the region of the thoracic spinal nerves close to their emergence from the intervertebral foramen. 900000000000017005 +3481591019 20170731 1 900000000000207008 733967009 en 900000000000550004 A local anaesthetic injection into the thoracic paravertebral space in the region of the thoracic spinal nerves close to their emergence from the intervertebral foramen. 900000000000017005 +3481601015 20170731 1 900000000000207008 734002009 en 900000000000550004 Blockade of the lumbar plexus using a paravertebral approach. 900000000000017005 +3481701013 20170731 1 900000000000207008 724205009 en 900000000000550004 Syndrome that is characterized by severe metabolic alterations (insulin resistance or hyperinsulinemia, hypertriglyceridemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness. So far, nine cases have been reported. Two of these patients also displayed cardiac conduction disturbances. The syndrome is caused by non-codon mutations at residue 482 of the LMNA gene. 900000000000017005 +3481702018 20170731 1 900000000000207008 724205009 en 900000000000550004 Syndrome that is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness. So far, nine cases have been reported. Two of these patients also displayed cardiac conduction disturbances. The syndrome is caused by non-codon mutations at residue 482 of the LMNA gene. 900000000000017005 +3481740015 20170731 1 900000000000207008 724093004 en 900000000000550004 Syndrome that is characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous parents. The mode of inheritance appears to be autosomal recessive. 900000000000017005 +3481741016 20170731 1 900000000000207008 724093004 en 900000000000550004 Syndrome that is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous parents. The mode of inheritance appears to be autosomal recessive. 900000000000017005 +3481745013 20170731 1 900000000000207008 724067006 en 900000000000550004 This syndrome has characteristics of neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. It has been described in four patients: two sisters and their female cousin belonging to a consanguineous Pakistani family, and one unrelated case (also born to consanguineous parents). Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat and optic nerve hypoplasia. One of the patients had pancreatic agenesis and the others were suspected of having pancreatic hypoplasia. The syndrome is transmitted as an autosomal recessive disorder. It is caused by mutations in the PTF1A gene (10p12.3). Prenatal diagnosis is possible by demonstration of the absence of the cerebellum and severe intra-uterine growth retardation. All patients died in the neonatal period. 900000000000017005 +3481751015 20170731 1 900000000000207008 724385009 en 900000000000550004 Syndrome with the association of intrauterine and postnatal growth retardation, sensorineural deafness and intellectual deficit. The syndrome is extremely rare and only four cases have been reported in the literature so far. Additional clinical features include microcephaly, adiposity, and insulin resistance. Partial gonadal dysfunction and osteoporosis may also be present. Caused by homozygous mutations in the insulin-like growth factor 1 gene (12q22-q24.1). Transmitted as an autosomal recessive trait. 900000000000017005 +3481764019 20170731 1 900000000000207008 724275005 en 900000000000550004 Syndrome with characteristics of a specific natural-killer cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene is within a 12-Mb region on chromosome 8p11.23-q11.21. 900000000000017005 +3481787010 20170731 1 900000000000207008 724097003 en 900000000000550004 A very rare hereditary neurological dysmorphic syndrome with characteristics of moyamoya disease, short stature of postnatal onset and stereotypical facial dysmorphism. The syndrome is extremely rare and has been reported in three unrelated families to date, with 10 affected individuals in several generations. These families are not from Japan or Asia, whereas in general the incidence of moyamoya disease is highest in Japan and other Asian countries, in comparison with other parts of the world. Affected patients are all male (X-linked inheritance) and have moyamoya angiopathy (progressive stenosis of the terminal portion of the intracranial internal carotid arteries), short stature, hypergonadotropic hypogonadism and other variable manifestations.. The genetic cause appears to involve Xq28 deletions removing MTCP1/CMC4 and BRCC3 (Xq28) .The specific pathophysiological mechanisms underlying this disorder remain obscure, but appear to involve alteration in DNA repair. 900000000000017005 +3481796010 20170731 1 900000000000207008 724000006 en 900000000000550004 Syndrome that is characterized by total color blindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family. 900000000000017005 +3481796010 20200731 0 900000000000207008 724000006 en 900000000000550004 Syndrome that is characterized by total color blindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family. 900000000000017005 +3481797018 20170731 1 900000000000207008 724000006 en 900000000000550004 Syndrome that is characterised by total colour blindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family. 900000000000017005 +3481797018 20200731 0 900000000000207008 724000006 en 900000000000550004 Syndrome that is characterised by total colour blindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family. 900000000000017005 +3481806010 20170731 1 900000000000207008 724001005 en 900000000000550004 An extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. 900000000000017005 +3481807018 20170731 1 900000000000207008 724001005 en 900000000000550004 An extremely rare syndromic retinitis pigmentosa characterised by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhoea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. 900000000000017005 +3481844018 20170731 1 900000000000207008 734015000 en 900000000000550004 A rare indolent subtype of clear cell renal carcinoma arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. 900000000000017005 +3481845017 20170731 1 900000000000207008 734015000 en 900000000000550004 A rare indolent subtype of clear cell renal carcinoma arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumour that typically does not metastasize. Clinically it can present with flank or abdominal pain or haematuria, although most patients are usually asymptomatic at the time of diagnosis. 900000000000017005 +3481858016 20170731 1 900000000000207008 734016004 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 17. The disorder has characteristics of hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies and sleep disturbance are also frequently associated. 900000000000017005 +3481870017 20170731 1 900000000000207008 734017008 en 900000000000550004 A rare multiple developmental anomalies syndrome with characteristics of the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate as well as cryptorchidism, feeding difficulties and hypotonia is associated. There have been no further descriptions in the literature since 1998. 900000000000017005 +3481882014 20170731 1 900000000000207008 734018003 en 900000000000550004 A form of ectodermal dysplasia with hair, teeth and nail involvement. The disease has predominant characteristics of hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. 900000000000017005 +3481908012 20170731 1 900000000000207008 734019006 en 900000000000550004 A rare genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994. 900000000000017005 +3481909016 20170731 1 900000000000207008 734019006 en 900000000000550004 A rare genetic gastroenterological disease characterised by the early onset of chronic diarrhoea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhoea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994. 900000000000017005 +3481919010 20170731 1 900000000000207008 734020000 en 900000000000550004 A very rare disease with characteristics of adult-onset unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. 900000000000017005 +3481927018 20170731 1 900000000000207008 734021001 en 900000000000550004 Disease with characteristics of the adult-onset (average age 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. 900000000000017005 +3481938018 20170731 1 900000000000207008 734022008 en 900000000000550004 A rare endocrine disease with characteristics of the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. There is evidence this disease is caused by heterozygous mutation in the WFS1 gene on chromosome 4p16. 900000000000017005 +3481961016 20170731 1 900000000000207008 734023003 en 900000000000550004 Non-hereditary degenerative ataxia with characteristics of slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported. 900000000000017005 +3481968010 20170731 1 900000000000207008 734024009 en 900000000000550004 A rare genetic non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis. The disorder has characteristics of a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, recto bulbar fistula in the male and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections. 900000000000017005 +3481968010 20211130 0 900000000000207008 734024009 en 900000000000550004 A rare genetic non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis. The disorder has characteristics of a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, recto bulbar fistula in the male and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections. 900000000000017005 +3481983017 20170731 1 900000000000207008 734026006 en 900000000000550004 Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment. The disease has characteristics of bilateral enlargement of the corneal diameter and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development and secondary glaucoma. There is evidence this disease is caused by mutation in the CHRDL1 gene on chromosome Xq23. 900000000000017005 +3481997013 20170731 1 900000000000207008 734028007 en 900000000000550004 A rare Y chromosome number anomaly with a variable phenotype. The main characteristics of this disorder are moderate to severe intellectual disability, speech delay, hypotonia and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognathia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults. 900000000000017005 +3482007019 20170731 1 900000000000207008 734029004 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype. The disease has characteristics of prematurity, pre and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow up slanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognathia and pointed chin. 900000000000017005 +3482022012 20170731 1 900000000000207008 734030009 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12 with a highly variable phenotype. The disorder has typical characteristics of developmental delay, learning disability, intrauterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. 900000000000017005 +3482044019 20170731 1 900000000000207008 734031008 en 900000000000550004 A rare genetic non-syndromic cranial nerve and nuclear aplasia malformation. The disease is characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. 900000000000017005 +3482045018 20170731 1 900000000000207008 734031008 en 900000000000550004 A rare genetic non-syndromic cranial nerve and nuclear aplasia malformation. The disease is characterised by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibres to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. 900000000000017005 +3482067017 20170731 1 900000000000207008 734037007 en 900000000000550004 A benign pituitary gland neoplasm occurring separately from and without involvement of the sella turcica. 900000000000017005 +3482121015 20170731 1 900000000000207008 733511006 en 900000000000550004 Patient position with neck rotation. 900000000000017005 +3482220013 20170731 1 900000000000207008 723277005 en 900000000000550004 A component that fails to comply with the current editorial guidance. 900000000000017005 +3482220013 20190131 1 900000000000012004 723277005 en 900000000000550004 A component that fails to comply with the current editorial guidance. 900000000000017005 +3482223010 20170731 1 900000000000207008 900000000000483008 en 900000000000550004 A component that is no longer current, useful, appropriate or acceptable. 900000000000017005 +3482223010 20190131 1 900000000000012004 900000000000483008 en 900000000000550004 A component that is no longer current, useful, appropriate or acceptable. 900000000000017005 +3482224016 20170731 1 900000000000207008 900000000000482003 en 900000000000550004 A component has been made inactive because it duplicates another component of the same type. E.g. A description that duplicates another description or a concept that duplicates another concept. 900000000000017005 +3482224016 20190131 1 900000000000012004 900000000000482003 en 900000000000550004 A component has been made inactive because it duplicates another component of the same type. E.g. A description that duplicates another description or a concept that duplicates another concept. 900000000000017005 +3482225015 20170731 1 900000000000207008 900000000000485001 en 900000000000550004 A component that contains a technical error. 900000000000017005 +3482225015 20190131 1 900000000000012004 900000000000485001 en 900000000000550004 A component that contains a technical error. 900000000000017005 +3482226019 20170731 1 900000000000207008 723278000 en 900000000000550004 A description that does not represent the same meaning as the concept's Fully Specified Name. For example, descriptions that are broader than, narrower than, or different to the Fully Specified Name. 900000000000017005 +3482226019 20190131 1 900000000000012004 723278000 en 900000000000550004 A description that does not represent the same meaning as the concept's Fully Specified Name. For example, descriptions that are broader than, narrower than, or different to the Fully Specified Name. 900000000000017005 +3482364019 20170731 1 900000000000207008 725036000 en 900000000000550004 A rare heterogeneous group of metabolic disorders with abnormal calcium metabolism due to deficient secretion of parathormone (PTH) without other endocrine disorders or developmental defects. It can occur at any age (from the newborn period to adulthood) but generally starts within the first decade of life. The disease may be due to an activating mutation of the calcium-sensing receptor (CASR) gene. This is the most common genetic cause and is transmitted as an autosomal dominant trait. It represents 42% of isolated hypoparathyroidism cases. Thirteen mutations have been described in familial or sporadic cases. In three families, mutations in the PTH gene have been identified. One family has been reported with a mutation in the gene encoding the glial cells missing homolog b (GCMB) transcription factor. 900000000000017005 +3482384015 20170731 1 900000000000207008 725295005 en 900000000000550004 A very rare gonadotropin-independent familial form of male-limited precocious puberty generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. Caused by an activating mutation of the Lutropin-Choriogonadotropic Hormone Receptor gene (LHCGR, 2p21) which leads to increased levels of sex steroids in the context of low luteinizing hormone. This receptor's chronic activation leads to precocious testosterone production by Leydig cells. No effect is observed in female carriers due to the dual luteinizing hormone (LH)/ follicle stimulating hormone (FSH) signal necessary to promote ovarian stimulation. Transmission is autosomal dominant. Mothers may act as silent carriers, with each son having a 50% chance of displaying this disorder. 900000000000017005 +3482385019 20170731 1 900000000000207008 725295005 en 900000000000550004 A very rare gonadotropin-independent familial form of male-limited precocious puberty generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. Caused by an activating mutation of the Lutropin-Choriogonadotropic Hormone Receptor gene (LHCGR, 2p21) which leads to increased levels of sex steroids in the context of low luteinising hormone. This receptor's chronic activation leads to precocious testosterone production by Leydig cells. No effect is observed in female carriers due to the dual luteinising hormone (LH)/ follicle stimulating hormone (FSH) signal necessary to promote ovarian stimulation. Transmission is autosomal dominant. Mothers may act as silent carriers, with each son having a 50% chance of displaying this disorder. 900000000000017005 +3487934012 20170731 1 900000000000207008 725137007 en 900000000000550004 This syndrome has characteristics of neutropenia with myeloid marrow hypoplasia, monocytopenia and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections. 900000000000017005 +3487950016 20170731 1 900000000000207008 723999009 en 900000000000550004 Syndrome with the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. So far, it has been described in four males. Autosomal recessive transmission is likely but an X-linked mode of inheritance cannot be excluded. 900000000000017005 +3489116019 20170731 1 900000000000207008 733921009 en 900000000000550004 Transplant medicine deals with the transfer of cells, tissue, organs or body parts from one organism to another. 900000000000017005 +3489212012 20170731 1 900000000000207008 734173003 en 900000000000550004 Syndrome with the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive. 900000000000017005 +3499892018 20170731 1 900000000000207008 285403007 en 900000000000550004 A force that approximates two structures. 900000000000017005 +3499893011 20170731 1 900000000000207008 30866005 en 900000000000550004 The antegrade movement of substances from the nerve cell along the axon toward the terminals toward the nerve cell. 900000000000017005 +3499894017 20170731 1 900000000000207008 403767009 en 900000000000550004 A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Marked intrafamilial variability is possible. Inherited as an autosomal recessive trait. 900000000000017005 +3499895016 20170731 1 900000000000207008 416210002 en 900000000000550004 Posterior movement of the sacral base around a transverse axis in relation to the ilia. 900000000000017005 +3499896015 20170731 1 900000000000207008 416614003 en 900000000000550004 A tissue texture abnormality characterized principally by a palpable sense of sponginess in the tissue, interpreted as resulting from congestion due to increased fluid content. 900000000000017005 +3499897012 20170731 1 900000000000207008 416614003 en 900000000000550004 A tissue texture abnormality characterised principally by a palpable sense of sponginess in the tissue, interpreted as resulting from congestion due to increased fluid content. 900000000000017005 +3499898019 20170731 1 900000000000207008 677701000119107 en 900000000000550004 A pathological process consisting of the formation of new blood vessels in the choroid. 900000000000017005 +3499899010 20170731 1 900000000000207008 723383005 en 900000000000550004 Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in the Tessier classification. Less than 70 cases have been described worldwide. These cases show a broad variation in severity, ranging from a simple notch in the vermillion to a complete cleft of the lip involving the tongue, the chin, the mandible, the supporting structures of the median of the neck and the manubrium sterni. The tongue is often attached to the cleft alveolar margin (ankyloglossia). Other associated anomalies were described in a number of cases such as absence or underdevelopment of the hyoid bone and/or thyroid cartilage. The only known familial cases were reported in 1936 with 18 affected individuals spanning four generations. 900000000000017005 +3499900017 20170731 1 900000000000207008 723403008 en 900000000000550004 Syndrome with the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. 900000000000017005 +3499901018 20170731 1 900000000000207008 723411003 en 900000000000550004 Syndrome with characteristics of nasopalpebral lipomas, bilateral eyelid coloboma, and telecanthus. It has been described in less than 30 patients. Other manifestations may include maxillary hypoplasia, hypertelorism, and dysmorphic features. It is transmitted as an autosomal dominant trait with complete penetrance. 900000000000017005 +3499902013 20170731 1 900000000000207008 723439002 en 900000000000550004 A neuromuscular disorder characterised by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anaesthesia. Reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence is estimated at approximately 1:5,000. The locus has been localised to 12q13.13-14.1. The disease is transmitted in an autosomal recessive manner. 900000000000017005 +3499903015 20170731 1 900000000000207008 723439002 en 900000000000550004 A neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. Reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence is estimated at approximately 1:5,000. The locus has been localized to 12q13.13-14.1. The disease is transmitted in an autosomal recessive manner. 900000000000017005 +3499904014 20170731 1 900000000000207008 723593002 en 900000000000550004 MRCM reference set attribute value which indicates that the given rule applies to all new precoordinated SNOMED CT content. 900000000000017005 +3499904014 20190131 1 900000000000012004 723593002 en 900000000000550004 MRCM reference set attribute value which indicates that the given rule applies to all new precoordinated SNOMED CT content. 900000000000017005 +3499905010 20170731 1 900000000000207008 723611008 en 900000000000550004 An extremely rare genetic syndrome with clinical characteristics of split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. There is evidence this syndrome may be caused by homozygous mutation in the DLX5 gene on chromosome 7q21. 900000000000017005 +3499906011 20170731 1 900000000000207008 723998001 en 900000000000550004 Syndrome with characteristics of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs) and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and highly arched palate was also observed. Transmission is autosomal recessive. There is evidence this syndrome is caused by homozygous or compound heterozygous mutation in the EIF4A3 gene on chromosome 17q25. 900000000000017005 +3499907019 20170731 1 900000000000207008 724139004 en 900000000000550004 Syndrome with the association of microtia, eye coloboma and imperforation of the nasolacrimal duct. So far, it has been described in only one family. The phenotype is associated with the presence of five copies of a copy-number-variable region (CNV) located at 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder. Transmission is autosomal dominant. 900000000000017005 +3499908012 20170731 1 900000000000207008 724280001 en 900000000000550004 A very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss. It has been reported in two brothers. Dysmorphic features include hypertelorism, upper lid coloboma, midface hypoplasia, saddle nose deformity with a midline nasal cleft, thick philtrum and everted lower lip. The two brothers had developmental delay. 900000000000017005 +3499909016 20170731 1 900000000000207008 725149008 en 900000000000550004 The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities. 900000000000017005 +3499910014 20170731 1 900000000000207008 732943007 en 900000000000550004 This attribute represents an ingredient that is the part of the active ingredient that the strength of a given product is based upon. 900000000000017005 +3499910014 20190131 1 900000000000012004 732943007 en 900000000000550004 This attribute represents an ingredient that is the part of the active ingredient that the strength of a given product is based upon. 900000000000017005 +3499911013 20170731 1 900000000000012004 732944001 en 900000000000550004 This attribute specifies the numerator value for the presentation strength of a product. 900000000000017005 +3499912018 20170731 1 900000000000012004 732945000 en 900000000000550004 This attribute specifies the numerator unit for the presentation strength of a product. 900000000000017005 +3499913011 20170731 1 900000000000012004 732946004 en 900000000000550004 This attribute specifies the denominator value for the presentation strength of a product. 900000000000017005 +3499914017 20170731 1 900000000000012004 732947008 en 900000000000550004 This attribute specifies the denominator unit for the presentation strength of a product. 900000000000017005 +3499915016 20170731 1 900000000000207008 732948003 en 900000000000550004 A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case. Caused by mutations in the KIF5A gene (12q13.13) encoding the protein kinesin heavy chain isoform 5A. 900000000000017005 +3499916015 20170731 1 900000000000207008 732949006 en 900000000000550004 A form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Caused by mutations in the NIPA1 gene (15q11.2) encoding the magnesium transporter NIPA1. 900000000000017005 +3499917012 20170731 1 900000000000207008 732950006 en 900000000000550004 This syndrome has characteristics of ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive. 900000000000017005 +3499918019 20170731 1 900000000000207008 732951005 en 900000000000550004 A type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterised clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninaemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. 900000000000017005 +3499919010 20170731 1 900000000000207008 732951005 en 900000000000550004 A type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. 900000000000017005 +3499920016 20170731 1 900000000000207008 732952003 en 900000000000550004 Syndrome with characteristics of congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive. 900000000000017005 +3499920016 20190731 0 900000000000207008 732952003 en 900000000000550004 Syndrome with characteristics of congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive. 900000000000017005 +3499921017 20170731 1 900000000000207008 732953008 en 900000000000550004 Syndrome with characteristics of hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. 900000000000017005 +3499922012 20170731 1 900000000000207008 732954002 en 900000000000550004 A rare syndrome described in two sisters of Mennonite descent, with characteristics of sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. 900000000000017005 +3499923019 20170731 1 900000000000207008 732955001 en 900000000000550004 An exceedingly rare syndrome described in one family and with characteristics of proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981. 900000000000017005 +3499924013 20170731 1 900000000000207008 732956000 en 900000000000550004 Syndrome that resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. The syndrome has been described in one family with five affected individuals from three successive generations. Transmission appears to be autosomal dominant. 900000000000017005 +3499925014 20170731 1 900000000000207008 732957009 en 900000000000550004 The association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. The syndrome has been described in eight affected individuals from four successive generations of one family. Intellectual deficit was observed in all reported individuals. Transmission appears to be autosomal dominant. 900000000000017005 +3499926010 20170731 1 900000000000207008 732958004 en 900000000000550004 Syndrome with characteristics of precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression. 900000000000017005 +3499927018 20170731 1 900000000000207008 732959007 en 900000000000550004 A rare form of neurodegeneration with brain iron accumulation (NBIA) with characteristics of early-onset developmental delay and further neurological deterioration in early adulthood. Caused by de novo heterozygous or hemizygous mutation in the WDR45 gene on chromosome Xp11. 900000000000017005 +3499928011 20170731 1 900000000000207008 732961003 en 900000000000550004 A very rare syndrome described in four siblings of one French family and with characteristics of branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal hernia and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. 900000000000017005 +3499929015 20170731 1 900000000000207008 732968009 en 900000000000550004 A potentially lethal complication of pheochromocytoma that may occur as a result of anaesthesia, surgery or during pregnancy and childbirth. The crisis is caused by excessive release of catecholamines and may be drug-induced secondary to histamine release, dopamine receptor blockade, or sympathomimetic action. Crisis may also result from mechanical factors such as squeeze of the tumour during surgery. 900000000000017005 +3499930013 20170731 1 900000000000207008 732968009 en 900000000000550004 A potentially lethal complication of pheochromocytoma that may occur as a result of anesthesia, surgery or during pregnancy and childbirth. The crisis is caused by excessive release of catecholamines and may be drug-induced secondary to histamine release, dopamine receptor blockade, or sympathomimetic action. Crisis may also result from mechanical factors such as squeeze of the tumor during surgery. 900000000000017005 +3499931012 20170731 1 900000000000207008 732970000 en 900000000000550004 Method of assisted reproductive technology (ART) consisting of carefully monitored administration of agents designed to induce development of multiple ovarian follicles. 900000000000017005 +3499932017 20170731 1 900000000000207008 733028000 en 900000000000550004 Syndrome that is characterised by the association of multiple sclerosis with lamellar ichthyosis and haematological anomalies (beta thalassaemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. 900000000000017005 +3499933010 20170731 1 900000000000207008 733028000 en 900000000000550004 Syndrome that is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. 900000000000017005 +3499934016 20170731 1 900000000000207008 733029008 en 900000000000550004 A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1. 900000000000017005 +3499935015 20170731 1 900000000000207008 733029008 en 900000000000550004 A complex form of hereditary spastic paraplegia characterised by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraoesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1. 900000000000017005 +3499936019 20170731 1 900000000000207008 733030003 en 900000000000550004 Syndrome with the association of severe ulnar hypoplasia, absence of fingers two to five and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. 900000000000017005 +3499937011 20170731 1 900000000000207008 733031004 en 900000000000550004 Syndrome with the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two siblings (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children. 900000000000017005 +3499938018 20170731 1 900000000000207008 733032006 en 900000000000550004 Syndrome with characteristics of intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum immunoglobulin antibody, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait. 900000000000017005 +3499939014 20170731 1 900000000000207008 733033001 en 900000000000550004 Syndrome that is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive. 900000000000017005 +3499940011 20170731 1 900000000000207008 733034007 en 900000000000550004 A rare bone developmental disorder belonging to a group of oromandibular limb hypogenesis syndromes. The major anomalies occuring commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976. 900000000000017005 +3499940011 20220630 0 900000000000207008 733034007 en 900000000000550004 A rare bone developmental disorder belonging to a group of oromandibular limb hypogenesis syndromes. The major anomalies occuring commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976. 900000000000017005 +3499941010 20170731 1 900000000000207008 733037000 en 900000000000550004 German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp'' shaped mouth, cleft palate), contractures, and severe hypotonia manifesting as motor delay and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections and psychomotor delay. There have been no further descriptions in the literature since 1987. 900000000000017005 +3499941010 20210930 0 900000000000207008 733037000 en 900000000000550004 German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp'' shaped mouth, cleft palate), contractures, and severe hypotonia manifesting as motor delay and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections and psychomotor delay. There have been no further descriptions in the literature since 1987. 900000000000017005 +3499942015 20170731 1 900000000000207008 733037000 en 900000000000550004 German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterised by arthrogryposis, hypotonia-hypokinesia sequence, and lymphoedema. Patients present distinct craniofacial appearance (tall forehead and ''carp'' shaped mouth, cleft palate), contractures, and severe hypotonia manifesting as motor delay and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections and psychomotor delay. There have been no further descriptions in the literature since 1987. 900000000000017005 +3499942015 20210930 0 900000000000207008 733037000 en 900000000000550004 German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterised by arthrogryposis, hypotonia-hypokinesia sequence, and lymphoedema. Patients present distinct craniofacial appearance (tall forehead and ''carp'' shaped mouth, cleft palate), contractures, and severe hypotonia manifesting as motor delay and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections and psychomotor delay. There have been no further descriptions in the literature since 1987. 900000000000017005 +3499943013 20170731 1 900000000000207008 733038005 en 900000000000550004 Syndrome with characteristics of joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. 900000000000017005 +3499944019 20170731 1 900000000000207008 733044009 en 900000000000550004 This syndrome is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood. 900000000000017005 +3499945018 20170731 1 900000000000207008 733044009 en 900000000000550004 This syndrome is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood. 900000000000017005 +3499946017 20170731 1 900000000000207008 733045005 en 900000000000550004 An extremely rare brachydactyly syndrome with characteristics of short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. 900000000000017005 +3499947014 20170731 1 900000000000207008 733046006 en 900000000000550004 A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with esotropia, amblyopia and/or convergent strabismus and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. 900000000000017005 +3499948016 20170731 1 900000000000207008 733049004 en 900000000000550004 A syndrome of multiple congenital anomalies with characteristics of encephalopathy that predominantly occurs in the first year of life and presents as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. 900000000000017005 +3499949012 20170731 1 900000000000207008 733050004 en 900000000000550004 Syndrome with characteristics of dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism and growth and psychomotor retardation. It has been described in two siblings. The disease is transmitted as an autosomal recessive trait. 900000000000017005 +3499950012 20170731 1 900000000000207008 733062000 en 900000000000550004 A very rare multiple congenital anomalies syndrome described in four siblings and with characteristics of intellectual deficit, flat face and some skeletal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit. 900000000000017005 +3499951011 20170731 1 900000000000207008 733064004 en 900000000000550004 Syndrome characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia. It has been described in three out of nine children from one family. 900000000000017005 +3499952016 20170731 1 900000000000207008 733064004 en 900000000000550004 Syndrome characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. It has been described in three out of nine children from one family. 900000000000017005 +3499953014 20170731 1 900000000000207008 733065003 en 900000000000550004 Syndrome with the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. So far, less than 10 cases have been reported in the literature. The hearing loss was generally diagnosed during childhood or early adulthood and the myoclonic jerks began during adolescence. Transmission appears to be autosomal dominant. 900000000000017005 +3499954015 20170731 1 900000000000207008 733066002 en 900000000000550004 Syndrome with characteristics of short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance cannot be ruled out. 900000000000017005 +3499955019 20170731 1 900000000000207008 733067006 en 900000000000550004 Syndrome with characteristics of telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers. Radiographic findings including flared metaphyses of the long bones and osteopenia. 900000000000017005 +3499956018 20170731 1 900000000000207008 733068001 en 900000000000550004 A very rare constellation of multiple anomalies including absence or hypoplasia of the tibia. It has been described in 3 siblings (two males and one female). The syndrome has characteristics of the absence or hypoplasia of the tibia, pre and postaxial polydactyly of the hands and/or feet, syndactyly of the toes, shortening and bowing of other long bones, and retrocerebellar arachnoid cyst. Parental consanguinity reported in the family suggests an autosomal recessive pattern of inheritance. 900000000000017005 +3499957010 20170731 1 900000000000207008 733069009 en 900000000000550004 Syndrome with the association of congenital deafness, short stature, vitiligo, muscle wasting, and achalasia. It has been described in a brother and his sister born to first-cousin parents. It is likely to be transmitted as an autosomal recessive trait. 900000000000017005 +3499958017 20170731 1 900000000000207008 733070005 en 900000000000550004 Syndrome with characteristics of partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. 900000000000017005 +3499959013 20170731 1 900000000000207008 733071009 en 900000000000550004 Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait. 900000000000017005 +3499960015 20170731 1 900000000000207008 733072002 en 900000000000550004 Syndrome with the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. 900000000000017005 +3499961016 20170731 1 900000000000207008 733082001 en 900000000000550004 An extremely rare inherited form of progressive myoclonic epilepsy with characteristics of progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades. There is evidence the disease is caused by homozygous mutation in the PRDM8 gene on chromosome 4q21. 900000000000017005 +3499962011 20170731 1 900000000000207008 733083006 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1). 900000000000017005 +3499963018 20170731 1 900000000000207008 733084000 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1). 900000000000017005 +3499964012 20170731 1 900000000000207008 733085004 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3). 900000000000017005 +3499965013 20170731 1 900000000000207008 733086003 en 900000000000550004 Syndrome with characteristics of intellectual deficit associated with progressive spastic quadriplegia, microcephaly, and glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers. 900000000000017005 +3499966014 20170731 1 900000000000207008 733087007 en 900000000000550004 An exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome has clinical characteristics of four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. 900000000000017005 +3499967017 20170731 1 900000000000207008 733088002 en 900000000000550004 Syndrome with characteristics of growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of siblings (brother and sister). The mode of transmission is thought to be autosomal recessive. 900000000000017005 +3499968010 20170731 1 900000000000207008 733089005 en 900000000000550004 Syndrome with characteristics of variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. It has been described in six members of a family. 900000000000017005 +3499969019 20170731 1 900000000000207008 733090001 en 900000000000550004 Syndrome with characteristics of congenital microcephaly with a sharply sloping forehead, digital anomalies (hallux valgus, syndactyly of the toes, short fifth fingers with a single flexion crease and absence of the distal interphalangeal crease of the fourth finger) and moderate to severe intellectual deficit. Less than 10 patients have been described so far. Linkage analysis has identified a candidate region on chromosome 18 (18p11.2-q12.3). Transmission is autosomal recessive. 900000000000017005 +3499970018 20170731 1 900000000000207008 733091002 en 900000000000550004 An extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. 900000000000017005 +3499971019 20170731 1 900000000000207008 733092009 en 900000000000550004 Syndrome with characteristics of microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). It has been described in five siblings (three males and two females) born to consanguineous parents. Additional congenital anomalies present in some of the patients included cubitus valgus and genu valgum. Early tooth loss was also reported. The mode of transmission appears to be autosomal recessive. 900000000000017005 +3499972014 20170731 1 900000000000207008 733093004 en 900000000000550004 A synostosis syndrome reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965. 900000000000017005 +3499973016 20170731 1 900000000000207008 733094005 en 900000000000550004 A syndromic disorder with the association between Dandy-Walker malformation and postaxial polydactyly as a major feature. The Dandy-Walker malformation has a variable expression and characteristics of a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. 900000000000017005 +3499974010 20170731 1 900000000000207008 733095006 en 900000000000550004 Syndrome with characteristics of skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. 900000000000017005 +3499975011 20170731 1 900000000000207008 733096007 en 900000000000550004 Syndrome with characteristics of renal, neurologic and thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait. 900000000000017005 +3499976012 20170731 1 900000000000207008 733097003 en 900000000000550004 Syndrome with characteristics of nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. 900000000000017005 +3499977015 20170731 1 900000000000207008 733110004 en 900000000000550004 Syndrome that is characterised by intellectual deficit, choroideraemia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion. 900000000000017005 +3499978013 20170731 1 900000000000207008 733110004 en 900000000000550004 Syndrome that is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion. 900000000000017005 +3499979017 20170731 1 900000000000207008 733111000 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. Caused by mutations in the gene STT3A (11q23.3). 900000000000017005 +3499980019 20170731 1 900000000000207008 733112007 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. Caused by mutations in the gene STT3B (3p24.1). 900000000000017005 +3499981015 20170731 1 900000000000207008 733113002 en 900000000000550004 This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents. 900000000000017005 +3499982010 20170731 1 900000000000207008 733113002 en 900000000000550004 This syndrome is characterised by the association of hypogonadotropic hypogonadism (with primary amenorrhoea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents. 900000000000017005 +3499983017 20170731 1 900000000000207008 733115009 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28). 900000000000017005 +3499984011 20170731 1 900000000000207008 733116005 en 900000000000550004 An extremely rare syndrome reported in two siblings of non-consanguineous parents with the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. 900000000000017005 +3499985012 20170731 1 900000000000207008 733117001 en 900000000000550004 Syndrome with characteristics of intellectual deficit, mild dysmorphism, type A brachydactyly, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case. 900000000000017005 +3499986013 20170731 1 900000000000207008 733118006 en 900000000000550004 An extremely rare congenital limb malformation syndrome, described in only 3 patients to date with the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. 900000000000017005 +3499987016 20170731 1 900000000000207008 733416004 en 900000000000550004 An association reported in a single kindred with characteristics of the variable presence of the following features: anetoderma (macular atrophy of the skin), multiple exostoses and brachydactyly type E. There have been no further descriptions in the literature since 1985. 900000000000017005 +3499988014 20170731 1 900000000000207008 733417008 en 900000000000550004 Syndrome with characteristics of Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive. 900000000000017005 +3499989018 20170731 1 900000000000207008 733418003 en 900000000000550004 An extremely rare genetic bone disorder with characteristics of the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia, cognitive impairment, and abnormal eye movements), associated with the skeletal anomalies found in Jeune asphyxiating thoracic dystrophy including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs and metaphyseal changes. 900000000000017005 +3499990010 20170731 1 900000000000207008 733419006 en 900000000000550004 Syndrome with characteristics of metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. 900000000000017005 +3499991014 20170731 1 900000000000207008 733422008 en 900000000000550004 An extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. 900000000000017005 +3499992019 20170731 1 900000000000207008 733422008 en 900000000000550004 An extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhoea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. 900000000000017005 +3499993012 20170731 1 900000000000207008 733423003 en 900000000000550004 The state of being uncertain about future access to nutritionally adequate and affordable foods. 900000000000017005 +3499993012 20210131 0 900000000000207008 733423003 en 900000000000550004 The state of being uncertain about future access to nutritionally adequate and affordable foods. 900000000000017005 +3499994018 20170731 1 900000000000207008 733425005 en 900000000000550004 Goodman syndrome is an extremely rare genetic disorder with characteristics of marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome. 900000000000017005 +3499995017 20170731 1 900000000000207008 733447005 en 900000000000550004 An extremely rare autosomal recessive gastroenterological disorder reported in three families so far characterised by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhoea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance. 900000000000017005 +3499996016 20170731 1 900000000000207008 733447005 en 900000000000550004 An extremely rare autosomal recessive gastroenterological disorder reported in three families so far characterized by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance. 900000000000017005 +3499997013 20170731 1 900000000000207008 733450008 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3). 900000000000017005 +3499998015 20170731 1 900000000000207008 733451007 en 900000000000550004 A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures and recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23). 900000000000017005 +3499999011 20170731 1 900000000000207008 733451007 en 900000000000550004 A form of congenital disorders of N-linked glycosylation characterised by microcephaly, hepatomegaly, oedema of the extremities, intractable seizures and recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23). 900000000000017005 +3500000018 20170731 1 900000000000207008 733452000 en 900000000000550004 A peroxisomal neurodegenerative disorder with characteristics of spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotropic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. There is evidence this disease is caused by homozygous mutation in the SCP2 gene on chromosome 1p32. 900000000000017005 +3500001019 20170731 1 900000000000207008 733453005 en 900000000000550004 A life-threatening multi organ disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. There is evidence this disease is caused by homozygous mutation in the ITGA3 gene on chromosome 17q21. 900000000000017005 +3500002014 20170731 1 900000000000207008 733454004 en 900000000000550004 A very rare autosomal dominant heart-hand syndrome with characteristics of bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. It has been described in four family members from three generations, with no new cases having been reported since 1981. 900000000000017005 +3500003016 20170731 1 900000000000207008 733455003 en 900000000000550004 Syndrome with characteristics of progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. 900000000000017005 +3500004010 20170731 1 900000000000207008 733456002 en 900000000000550004 Syndrome with characteristics of triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters. 900000000000017005 +3500004010 20220630 0 900000000000207008 733456002 en 900000000000550004 Syndrome with characteristics of triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters. 900000000000017005 +3500005011 20170731 1 900000000000207008 733457006 en 900000000000550004 An association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. 900000000000017005 +3500006012 20170731 1 900000000000207008 733457006 en 900000000000550004 An association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterised by generalised joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. 900000000000017005 +3500007015 20170731 1 900000000000207008 733466005 en 900000000000550004 A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. 900000000000017005 +3500008013 20170731 1 900000000000207008 733467001 en 900000000000550004 An extremely rare genetic skin disease characterised by loss of elastin tissue leading to localised areas of flaccid skin and a family history of the disorder. 900000000000017005 +3500009017 20170731 1 900000000000207008 733467001 en 900000000000550004 An extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder. 900000000000017005 +3500010010 20170731 1 900000000000207008 733468006 en 900000000000550004 Very rare syndrome with clinical characteristics of multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. 900000000000017005 +3500011014 20170731 1 900000000000207008 733469003 en 900000000000550004 A neurocutaneous syndrome with characteristics of congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit. 900000000000017005 +3500012019 20170731 1 900000000000207008 733472005 en 900000000000550004 Syndrome with characteristics of intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. It has been described in two sisters. 900000000000017005 +3500013012 20170731 1 900000000000207008 733473000 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which includes: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (up slanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). 900000000000017005 +3500014018 20170731 1 900000000000207008 733489002 en 900000000000550004 A neuromuscular disease with characteristics of progressive symmetric muscle weakness of anterior upper and posterior lower limbs. It has been described in several members of an Australian and an Italian family. The disease usually manifests during the third decade of life with thenar muscle weakness resulting in reduced grip strength. The disease is slowly progressive and generally proceeds with calf muscle weakness appearing during the fourth decade and proximal muscles becoming perceptibly affected in the fifth decade. The disease is due to mutations on the actin-binding domain of the FLNC gene that encodes filamin C, a muscle specific filamin that is also associated with myofibrillar myopathy when mutations affect other parts of the protein. The disease mechanism seems to be linked to an increased actin-binding affinity of filamin C. 900000000000017005 +3500015017 20170731 1 900000000000207008 733490006 en 900000000000550004 A mid-life onset distal myopathy with characteristics of tibialis anterior weakness and progressive respiratory muscle involvement present from the onset of the disease. It has been described in three generations of a family (11 patients). Transmission is autosomal dominant and an anticipation phenomenon is suspected. No genes have yet been identified. 900000000000017005 +3500016016 20170731 1 900000000000207008 733491005 en 900000000000550004 Carney complex (CNC) has characteristics of spotty skin pigmentation, endocrine overactivity and myxomas. The prevalence is unknown but it is a rare disease. Skin pigmentation anomalies include lentigines and blue nevi. The most common endocrine gland manifestations are acromegaly, thyroid and testicular neoplasms and adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome. Myxomas can be observed in the heart, skin and breast. Cardiac myxomas can develop in any cardiac chamber and may be multiple. One of the putative CNC genes located on 17q22-24, (PRKAR1A), has been found to encode the regulatory subunit (R1A) of protein kinase A. Heterozygous inactivating mutations of PRKAR1A were reported initially in 45 to 65% of CNC index cases, and may be present in about 80% of the CNC families presenting mainly with Cushing's syndrome. CNC is a dominantly inherited syndrome. 900000000000017005 +3500017013 20170731 1 900000000000207008 733492003 en 900000000000550004 A rare non-hereditary condition characterised by gastrointestinal stromal tumours (GIST), pulmonary chondromas and extraadrenal paragangliomas. Less than 100 cases have been reported worldwide. The disease primarily affects young women (mean age of onset 20 years). Most patients initially present with two of the three tumours (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anaemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Pulmonary chondromas occur in approximately 80% of cases. Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients. The aetiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney's triad. 900000000000017005 +3500018015 20170731 1 900000000000207008 733492003 en 900000000000550004 A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST), pulmonary chondromas and extraadrenal paragangliomas. Less than 100 cases have been reported worldwide. The disease primarily affects young women (mean age of onset 20 years). Most patients initially present with two of the three tumors (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Pulmonary chondromas occur in approximately 80% of cases. Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients. The etiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney's triad. 900000000000017005 +3500019011 20170731 1 900000000000207008 733499007 en 900000000000550004 Cardiac stroke volume index is the the volume of blood ejected per beat divided by body surface area, hence units of measurement are ml/m square - (cardiac) stroke volume index is therefore a more precise individual measurement. 900000000000017005 +3500020017 20170731 1 900000000000207008 733502006 en 900000000000550004 An observable entity of a parameter calculated by types of cardiac output monitor. SVV (%) = (SVmax - SVmin)/SVmean. 900000000000017005 +3500021018 20170731 1 900000000000207008 733503001 en 900000000000550004 Direct left atrial pressure monitoring in severe heart failure: long-term sensor performance. 900000000000017005 +3500022013 20170731 1 900000000000207008 733510007 en 900000000000550004 Patient position with extension of neck. 900000000000017005 +3500023015 20170731 1 900000000000207008 733518000 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16. The disorder has a highly variable phenotype with typical characteristics of developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder, dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, up slanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. 900000000000017005 +3500024014 20170731 1 900000000000207008 733519008 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17. The disease is characterized by renal cystic disease, maturity onset diabetes of the young type 5 and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcemia has also been reported. 900000000000017005 +3500025010 20170731 1 900000000000207008 733519008 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17. The disease is characterised by renal cystic disease, maturity onset diabetes of the young type 5 and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia has also been reported. 900000000000017005 +3500026011 20170731 1 900000000000207008 733520002 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20. The disorder has a highly variable phenotype with typical characteristics of hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. 900000000000017005 +3500027019 20170731 1 900000000000207008 733521003 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16. The disease has a highly variable phenotype with typical characteristics of developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. 900000000000017005 +3500028012 20170731 1 900000000000207008 733522005 en 900000000000550004 A rare intellectual disability syndrome with most common characteristics of megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported. 900000000000017005 +3500029016 20170731 1 900000000000207008 733598001 en 900000000000550004 A rare subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anaemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. 900000000000017005 +3500030014 20170731 1 900000000000207008 733598001 en 900000000000550004 A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. 900000000000017005 +3500031013 20170731 1 900000000000207008 733599009 en 900000000000550004 An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle. The disease has a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism. 900000000000017005 +3500032018 20170731 1 900000000000207008 733600007 en 900000000000550004 A mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain. The disease has characteristics of severe hypertrophic cardiomyopathy, pulmonary hypoplasia, muscle weakness and neurological involvement. Caused by homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21. 900000000000017005 +3500033011 20170731 1 900000000000207008 733601006 en 900000000000550004 A rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency with a highly variable phenotype. The disease typically presents with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. Caused by homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. 900000000000017005 +3500034017 20170731 1 900000000000207008 733603009 en 900000000000550004 An extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastasis have been reported. 900000000000017005 +3500034017 20210930 0 900000000000207008 733603009 en 900000000000550004 An extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastasis have been reported. 900000000000017005 +3500035016 20170731 1 900000000000207008 733603009 en 900000000000550004 An extremely rare subtype of renal cell carcinoma most frequently characterised by a small, solitary, well-circumscribed, unencapsulated renal tumour composed of multiple small to medium-sized cysts with a white or grey, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or haematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastasis have been reported. 900000000000017005 +3500035016 20210930 0 900000000000207008 733603009 en 900000000000550004 An extremely rare subtype of renal cell carcinoma most frequently characterised by a small, solitary, well-circumscribed, unencapsulated renal tumour composed of multiple small to medium-sized cysts with a white or grey, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or haematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastasis have been reported. 900000000000017005 +3500038019 20170731 1 900000000000207008 733604003 en 900000000000550004 A rare autosomal dominant condition characterised by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphoedema of the lower limbs and mild to moderate intellectual disability. The exact prevalence is not known but the disorder is thought to be rare. The microcephaly is primary, and the severity is variable even within families. Mild to moderate learning difficulties are common. A characteristic facial phenotype including up slanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, and prominent chin and ears is well recognised. There is likely to be genetic heterogeneity. However, a significant proportion of cases are caused by mutations in the kinesin family member 11 (KIF11) gene (10q24.1). Inheritance is autosomal dominant with variable expression and reduced penetrance. 900000000000017005 +3500039010 20170731 1 900000000000207008 733604003 en 900000000000550004 A rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs and mild to moderate intellectual disability. The exact prevalence is not known but the disorder is thought to be rare. The microcephaly is primary, and the severity is variable even within families. Mild to moderate learning difficulties are common. A characteristic facial phenotype including up slanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, and prominent chin and ears is well recognized. There is likely to be genetic heterogeneity. However, a significant proportion of cases are caused by mutations in the kinesin family member 11 (KIF11) gene (10q24.1). Inheritance is autosomal dominant with variable expression and reduced penetrance. 900000000000017005 +3500043014 20170731 1 900000000000207008 733605002 en 900000000000550004 An association syndrome described only once in two sisters. They had a 46,XY karyotype, cleft lip and palate, preauricular pits and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. 900000000000017005 +3500047010 20170731 1 900000000000207008 733606001 en 900000000000550004 Summitt syndrome is an extremely rare disorder originally described in two brothers and with characteristics of mild to severe craniosynostosis and syndactyly, obesity and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. 900000000000017005 +3500048017 20170731 1 900000000000207008 733608000 en 900000000000550004 A rare subtype of renal cell carcinoma arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with haematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes may predispose to the development of papillary renal cell carcinoma. 900000000000017005 +3500049013 20170731 1 900000000000207008 733608000 en 900000000000550004 A rare subtype of renal cell carcinoma arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes may predispose to the development of papillary renal cell carcinoma. 900000000000017005 +3500050013 20170731 1 900000000000207008 75049004 en 900000000000550004 A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait. 900000000000017005 +3500051012 20170731 1 900000000000207008 75971007 en 900000000000550004 New, damaging blood vessels that grow beneath the retina. These blood vessels grow in an area called the choroid. 900000000000017005 +3502737011 20180131 1 900000000000207008 71432007 en 900000000000550004 The rotary movement by which a structure is made to describe a cone, the apex of the cone being a fixed point (e.g., the circular movement of a limb) 900000000000017005 +3503045015 20180131 1 900000000000207008 734275002 en 900000000000550004 Delivery of the fetus by vacuum extraction where the descent of the fetal head has reached the pelvic floor and the fetal scalp is visible at the introitus. The sagittal suture is located in the anteroposterior diameter or in the right or left occipitoanterior or occipitoposterior position. 900000000000017005 +3503058019 20180131 1 900000000000207008 734276001 en 900000000000550004 Delivery of the fetus by vacuum extraction where the fetal head is engaged in the pelvis but above +2 cm station. 900000000000017005 +3504497010 20180131 1 900000000000207008 733722007 en 900000000000550004 This attribute specifies the denominator unit for the concentration strength of a product. 900000000000017005 +3504497010 20190131 1 900000000000012004 733722007 en 900000000000550004 This attribute specifies the denominator unit for the concentration strength of a product. 900000000000017005 +3504501017 20180131 1 900000000000012004 733723002 en 900000000000550004 This attribute specifies the denominator value for the concentration strength of a product. 900000000000017005 +3504513010 20180131 1 900000000000012004 733724008 en 900000000000550004 This attribute specifies the numerator value for the concentration strength of a product. 900000000000017005 +3504515015 20180131 1 900000000000012004 733725009 en 900000000000550004 This attribute specifies the numerator unit for the concentration strength of a product. 900000000000017005 +3505224015 20180131 1 900000000000207008 734347001 en 900000000000550004 Rescue medication is a generic term used to describe medicines for the treatment of acute episodes of types of chronic disease such as epilepsy. 900000000000017005 +3505256010 20180131 1 900000000000207008 734349003 en 900000000000550004 A congenital contiguous gene deletion syndrome, which is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin level or mild anemia, associated with developmental abnormalities. Caused by large deletions on chromosome band 16p13.3 which remove the alpha-globin genes (HBA1 and HBA2), and many other flanking genes. The gene(s) responsible for intellectual deficiency and other developmental abnormalities has not been clearly identified. All cases are due to de novo deletions or segregation for parental translocations inherited in an unbalanced manner. The prognosis is highly variable, depending on the degree of intellectual deficiency. 900000000000017005 +3505257018 20180131 1 900000000000207008 734349003 en 900000000000550004 A congenital contiguous gene deletion syndrome, which is a form of alpha-thalassemia characterised by microcytosis, hypochromia, normal haemoglobin level or mild anaemia, associated with developmental abnormalities. Caused by large deletions on chromosome band 16p13.3 which remove the alpha-globin genes (HBA1 and HBA2), and many other flanking genes. The gene(s) responsible for intellectual deficiency and other developmental abnormalities has not been clearly identified. All cases are due to de novo deletions or segregation for parental translocations inherited in an unbalanced manner. The prognosis is highly variable, depending on the degree of intellectual deficiency. 900000000000017005 +3508479010 20170731 1 900000000000207008 32456001 en 900000000000550004 Medulloblastoma with extensive nodularity and advanced neuronal differentiation. 900000000000017005 +3508490017 20170731 1 900000000000207008 710025005 en 900000000000550004 Hamular notch is well defined to establish the posterior extension of the denture base. 900000000000017005 +3508491018 20170731 1 900000000000207008 435801000124108 en 900000000000550004 Alter the consistency of foods to optimize chewing and swallowing. (Source: Nutrition Care Manual, Academy of Nutrition and Dietetics 2013). 900000000000017005 +3508491018 20210131 0 900000000000207008 435801000124108 en 900000000000550004 Alter the consistency of foods to optimize chewing and swallowing. (Source: Nutrition Care Manual, Academy of Nutrition and Dietetics 2013). 900000000000017005 +3508492013 20170731 1 900000000000207008 439021000124105 en 900000000000550004 Liquids included in the diet are provided at a viscosity of 51--350 centipoise (cP). (Source: Nutrition Care Manual, Academy of Nutrition and Dietetics 2013). 900000000000017005 +3508492013 20200131 0 900000000000207008 439021000124105 en 900000000000550004 Liquids included in the diet are provided at a viscosity of 51--350 centipoise (cP). (Source: Nutrition Care Manual, Academy of Nutrition and Dietetics 2013). 900000000000017005 +3508493015 20170731 1 900000000000207008 439031000124108 en 900000000000550004 Liquids included in the diet are provided at a viscosity of 351-1750 centipoise (cP). (Source: Nutrition Care Manual, Academy of Nutrition and Dietetics 2013). 900000000000017005 +3508493015 20210131 0 900000000000207008 439031000124108 en 900000000000550004 Liquids included in the diet are provided at a viscosity of 351-1750 centipoise (cP). (Source: Nutrition Care Manual, Academy of Nutrition and Dietetics 2013). 900000000000017005 +3508494014 20170731 1 900000000000207008 439041000124103 en 900000000000550004 Liquids included in the diet are provided at a viscosity of > 1750 centipoise (cP). (Source: Nutrition Care Manual, Academy of Nutrition and Dietetics 2013). 900000000000017005 +3508494014 20210131 0 900000000000207008 439041000124103 en 900000000000550004 Liquids included in the diet are provided at a viscosity of > 1750 centipoise (cP). (Source: Nutrition Care Manual, Academy of Nutrition and Dietetics 2013). 900000000000017005 +3508495010 20170731 1 900000000000207008 439081000124109 en 900000000000550004 Liquids included in the diet are provided at a viscosity of 1-50 centipoise (cP). (Source: Nutrition Care Manual, Academy of Nutrition and Dietetics 2013). 900000000000017005 +3508495010 20210131 0 900000000000207008 439081000124109 en 900000000000550004 Liquids included in the diet are provided at a viscosity of 1-50 centipoise (cP). (Source: Nutrition Care Manual, Academy of Nutrition and Dietetics 2013). 900000000000017005 +3508496011 20170731 1 900000000000207008 439101000124101 en 900000000000550004 Replace very hard, sticky or crunchy foods with those that are soft and moist. Treatment for dental problems and mouth soreness. (Source: Nutrition Care Manual, Academy of Nutrition and Dietetics 2013). 900000000000017005 +3508496011 20210131 0 900000000000207008 439101000124101 en 900000000000550004 Replace very hard, sticky or crunchy foods with those that are soft and moist. Treatment for dental problems and mouth soreness. (Source: Nutrition Care Manual, Academy of Nutrition and Dietetics 2013). 900000000000017005 +3511354010 20180131 1 900000000000207008 734901004 en 900000000000550004 Ultrasound imaging of axilla on the other side of a nearby anatomic lesion. 900000000000017005 +3511375019 20180131 1 900000000000207008 192976002 en 900000000000550004 A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease. 900000000000017005 +3512100016 20180131 1 900000000000207008 734948002 en 900000000000550004 The number of times a short-acting reliever inhaler is used to treat asthma symptoms to reduce the risk of asthma attack during the period of one week. 900000000000017005 +3512104013 20180131 1 900000000000207008 734949005 en 900000000000550004 The number of prescriptions for a short-acting reliever inhaler to treat asthma symptoms issued during the period of one year. 900000000000017005 +3512292011 20180131 1 900000000000207008 734990008 en 900000000000550004 A disorder of glyoxylate metabolism that can be asymptomatic or have manifestation of oxalate nephrolithiasis. This disease has a less severe course that primary hyperoxaluria type 1 or type 2, and may be silent or limited to stone formation, sometimes even improving over time. While hyperoxaluria persists in primary hyperoxaluria type 3, nephrocalcinosis and chronic kidney failure are uncommon and systemic involvement has not been reported so far. Caused by mutations in the 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1) gene located to 10q24.1. Transmission is autosomal recessive 900000000000017005 +3513044013 20180131 1 900000000000207008 230437002 en 900000000000550004 A genetic epilepsy of childhood with characteristics of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Seizures can regress in adulthood but most patients have ongoing seizures that are refractory to medication. Around 85% of cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons. In families with a known SCN1A mutation, inheritance is autosomal dominant. 900000000000017005 +3513225012 20180131 1 900000000000207008 735130003 en 900000000000550004 Cutaneous lesion induced by minor, but constant mechanical trauma occurring typically on the lateral edges of the nasal root or on top of or behind the auricle. 900000000000017005 +3513229018 20180131 1 900000000000207008 735129008 en 900000000000550004 Mucosal lesion of the alveolar recess of the buccal mucosa caused by ill-fitting prostheses, such as dentures, that caused some form of constant mechanical trauma to the mucosal site. 900000000000017005 +3513533012 20180131 1 900000000000207008 416820004 en 900000000000550004 A vertical plane at right angles to a sagittal plane, dividing the body into anterior and posterior portions, or any plane parallel to the central coronal plane. 900000000000017005 +3513534018 20180131 1 900000000000207008 419196000 en 900000000000550004 Tests for iliosacral or sacroiliac somatic dysfunction. 900000000000017005 +3513547011 20180131 1 900000000000207008 735191002 en 900000000000550004 A screening test that determines the side of iliosacral somatic dysfunction (motion of ilium on the sacrum). 900000000000017005 +3513550014 20180131 1 900000000000207008 735192009 en 900000000000550004 A screening test that determines the side of sacroiliac somatic dysfunction (motion of the sacrum on the ilium). 900000000000017005 +3513655014 20180131 1 900000000000207008 735216000 en 900000000000550004 Catheter designed to cross and recanalize chronic total occlusions in the peripheral vasculature. 900000000000017005 +3513656010 20180131 1 900000000000207008 735216000 en 900000000000550004 Catheter designed to cross and recanalise chronic total occlusions in the peripheral vasculature. 900000000000017005 +3513798019 20180131 1 900000000000207008 417194006 en 900000000000550004 Perceived quality of motion as an anatomic or physiologic restrictive barrier is approached. 900000000000017005 +3513801013 20180131 1 900000000000207008 735237008 en 900000000000550004 Damage due to habitual action involving the oral cavity. 900000000000017005 +3514151014 20180131 1 900000000000207008 416160000 en 900000000000550004 This earned post-doctoral fellowship is conferred by the American Academy of Osteopathy. Those who earn the FAAO must demonstrate their commitment to osteopathic principles and practice through teaching, writing, and service, performed at the highest level of professional and ethical standards. 900000000000017005 +3514376019 20180131 1 900000000000207008 735387004 en 900000000000550004 Replacement resorption is resorption of the tooth root surface and its substitution by bone resulting in ankylosis. 900000000000017005 +3514383014 20180131 1 900000000000207008 735389001 en 900000000000550004 A temporary situation during which the apex of the tooth root demonstrates the radiographic appearance of resorption following trauma. The finding generally returns to normal following repair within a period of one year. 900000000000017005 +3514387010 20180131 1 900000000000207008 735390005 en 900000000000550004 A type of resorption which is self-limiting and usually occurs following trauma. The disorder manifests as small superficial lacunae in the cementum and may extend in the outermost layer of dentin. 900000000000017005 +3514391017 20180131 1 900000000000207008 735391009 en 900000000000550004 Disorder which may arise as a sequela of traumatic injury, orthodontic tooth movement, or chronic infection of the pulp or periodontal structures. 900000000000017005 +3514492013 20180131 1 900000000000207008 735421004 en 900000000000550004 This disease has characteristics of progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. Onset occurs in early childhood. Epilepsy and cognitive decline have also been described. The syndrome is caused by mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase. Transmission is autosomal recessive. 900000000000017005 +3516043011 20180131 1 900000000000207008 736014004 en 900000000000550004 Indicates whether a healthcare professional has clinical status and rights at healthcare institutions and organizations. 900000000000017005 +3516044017 20180131 1 900000000000207008 736014004 en 900000000000550004 Indicates whether a healthcare professional has clinical status and rights at healthcare institutions and organisations. 900000000000017005 +3516372015 20180131 1 900000000000207008 736099005 en 900000000000550004 Restriction of water only and not other oral fluids that contain sodium. 900000000000017005 +3516736012 20180131 1 900000000000207008 791000124107 en 900000000000550004 A rare life-threatening neurometabolic disease with characteristics of a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. 900000000000017005 +3517091017 20180131 1 900000000000207008 861000124109 en 900000000000550004 Time from the end of the last dialysis session to the beginning of the current dialysis session. 900000000000017005 +3517625018 20180131 1 900000000000207008 736415005 en 900000000000550004 Position of tongue in mouth. 900000000000017005 +3517900012 20170731 1 900000000000207008 733525007 en 900000000000550004 Left anterior fascicular block is characterized by all of the following: Left-axis deviation with frontal QRS axis between 45° and 90°; Q wave in lead aVL; rS in inferior leads; QRS duration is 120 ms. 900000000000017005 +3517901011 20170731 1 900000000000207008 733525007 en 900000000000550004 Left anterior fascicular block is characterised by all of the following: Left-axis deviation with frontal QRS axis between 45° and 90°; Q wave in lead aVL ; rS in inferior leads; QRS duration is 120 ms. 900000000000017005 +3517902016 20170731 1 900000000000207008 733524006 en 900000000000550004 Right-axis deviation with frontal QRS axis between 90° and 180° rS in leads I and aVL and qR in inferior leads (Q waves 40 ms); QRS duration 120 ms; Exclude other causes of right-axis deviation. 900000000000017005 +3517960014 20180131 1 900000000000207008 191478006 en 900000000000550004 Alcohol induced paranoia. 900000000000017005 +3518031017 20180131 1 900000000000207008 52734007 en 900000000000550004 Total reconstruction of hip with prosthesis. 900000000000017005 +3518050017 20180131 1 900000000000207008 735531008 en 900000000000550004 Malaria without parasitological confirmation. 900000000000017005 +3521320010 20180131 1 900000000000207008 736649005 en 900000000000550004 A regular habit of biting on an object such as a pencil or pen. 900000000000017005 +3521401014 20180131 1 900000000000207008 416092001 en 900000000000550004 The precise physiologic point in which the proprioceptive information provided by the ligaments allows the body to equalize the stresses exerted on an articulation in all directions. 900000000000017005 +3521969016 20180131 1 900000000000207008 118635009 en 900000000000550004 Repeating a prior procedure to correct or improve the results. 900000000000017005 +3524822014 20180131 1 900000000000207008 736783005 en 900000000000550004 Optimal condyle position in the glenoid fossa independent of intercuspation. 900000000000017005 +3524840013 20180131 1 900000000000207008 736784004 en 900000000000550004 Linear measurement of the distance or width between molar teeth. 900000000000017005 +3525038013 20180131 1 900000000000207008 736803003 en 900000000000550004 Linear measurement of the distance or width between cuspid teeth. 900000000000017005 +3525226012 20180131 1 900000000000207008 736828006 en 900000000000550004 Modified diet is an alteration to the consistency of foods and liquids for the management of dysphagia. 900000000000017005 +3525675016 20180131 1 900000000000207008 18183009 en 900000000000550004 Procedure involving a non-removable dental restoration such as crown, bridge or implant. 900000000000017005 +3526142017 20180131 1 900000000000207008 417522009 en 900000000000550004 A vertical line passing through the lateral malleolus, used as a point of reference in standing lateral x-rays and postural evaluation. 900000000000017005 +3526143010 20180131 1 900000000000207008 65361000 en 900000000000550004 A manipulative treatment in which the restrictive barrier is disengaged and the dysfunctional body part is moved away from the restrictive barrier. 900000000000017005 +3526147011 20180131 1 900000000000207008 416327007 en 900000000000550004 An osteopathic method in which the restrictive barrier is engaged in one or more planes of motion and then a rapid, therapeutic force of brief duration traveling a short distance is applied within the anatomic range of motion. 900000000000017005 +3526148018 20180131 1 900000000000207008 416327007 en 900000000000550004 An osteopathic method in which the restrictive barrier is engaged in one or more planes of motion and then a rapid, therapeutic force of brief duration travelling a short distance is applied within the anatomic range of motion. 900000000000017005 +3526149014 20180131 1 900000000000207008 416720006 en 900000000000550004 Rhythmic compression applied over the liver for purposes of increasing blood flow through the liver and enhancing bile and lymphatic drainage from the liver. 900000000000017005 +3526152018 20180131 1 900000000000207008 417614006 en 900000000000550004 Posterior movement of the base of the sacrum in relation to the ilia. 900000000000017005 +3526211015 20180131 1 900000000000207008 737007008 en 900000000000550004 Tracing of the outline of a skin ulcer using acetate in order to calculate surface wound area and identify the wound margin. 900000000000017005 +3526328019 20180131 1 900000000000207008 737037004 en 900000000000550004 A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway. 900000000000017005 +3526442011 20180131 1 900000000000207008 737043002 en 900000000000550004 An increased amount of tooth display when smiling compared to rest position. 900000000000017005 +3528310013 20180131 1 900000000000207008 737562008 en 900000000000550004 A congenital anomaly of the kidney and urinary tract in which one or both kidneys are large, distended by multiple cysts, and non-functional. Global prevalence is not known, but the unilateral form is the most frequent. The disorder frequently presents antenatally at routine ultrasound scan. Bilateral disease is considered a lethal entity and most pregnancies are terminated. The disorder results from disrupted nephrogenesis but the exact pathogenic mechanism is still unknown. Mutations in the HNF1B gene (17q12) are strongly associated with the development of this disease. Most cases are sporadic. 900000000000017005 +3528390014 20180131 1 900000000000207008 737580004 en 900000000000550004 A rare otorhinolaryngologic disease with characteristics of dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo. 900000000000017005 +3528394017 20180131 1 900000000000207008 737581000 en 900000000000550004 A rare non-syndromic limb malformation with characteristics of fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis. The disease is frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula and valgus deformity of the knee. 900000000000017005 +3528397012 20180131 1 900000000000207008 737582007 en 900000000000550004 A rare parkinsonian disorder with characteristics of unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated. 900000000000017005 +3528541010 20180131 1 900000000000207008 734551003 en 900000000000550004 Compound or agent that combine with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction US Library of Medicine MESH Descriptor data Accessed 20/01/2017 900000000000017005 +3528549012 20180131 1 900000000000207008 734821002 en 900000000000550004 A substance that causes irritation specifically tending to produce inflammation 900000000000017005 +3531690015 20180131 1 900000000000207008 737579002 en 900000000000550004 A rare non-syndromic developmental defect of the eye. The disease has characteristics of well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. 900000000000017005 +3532637017 20180131 1 900000000000207008 738527001 en 900000000000550004 A rare malignant neoplastic disease characterised by clonal proliferation of myeloid and/or lymphoid precursors harbouring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin). It usually presents as chronic eosinophilic leukaemia or, less commonly, as acute myeloid leukaemia or T-lymphoblastic leukaemia with eosinophilia. Patients usually present with eosinophilia, anaemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy. 900000000000017005 +3532638010 20180131 1 900000000000207008 738527001 en 900000000000550004 A rare malignant neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy. 900000000000017005 +3533539017 20180131 1 900000000000207008 716318002 en 900000000000550004 Patients and families with a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or the EPCAM gene but who have not met the criteria for hereditary nonpolyposis colon cancer. 900000000000017005 +3533938016 20180131 1 900000000000207008 736854003 en 900000000000550004 A dose form transformation that occurs when a solid or liquid dose form is mixed with a suitable liquid to create a suspension. This may occur as part of the dispensing act or immediately before administration. 900000000000017005 +3533940014 20180131 1 900000000000207008 736477006 en 900000000000550004 A process where a dose form is transformed from that supplied by the manufacturer into a new dose form. This may occur as part of the dispensing act or immediately before administration. 900000000000017005 +3533941013 20180131 1 900000000000207008 736853009 en 900000000000550004 A dose form transformation that occurs when a solid dose form is mixed with a suitable liquid to create a solution. This may occur as part of the dispensing act or immediately before administration. 900000000000017005 +3533942018 20180131 1 900000000000207008 736847009 en 900000000000550004 A release characteristic where a dose form displays a slower release of the active substance(s) than that of a conventional-release dose form. This may be achieved by a special formulation design, manufacturing process or other methods. 900000000000017005 +3533943011 20180131 1 900000000000207008 737051004 en 900000000000550004 A release characteristic where the dose form displays a rate, a place and/or a time of release of the active substance(s) that is different from that of a conventional-release dose form. This modification may be achieved by a special formulation design, manufacturing process or other methods. 900000000000017005 +3533944017 20180131 1 900000000000207008 737596001 en 900000000000550004 A release characteristic where a dose form displays two separate, delayed-release profiles of the active substance(s) within the same dose form. This may be achieved by a special formulation design, manufacturing process or other methods. 900000000000017005 +3533945016 20180131 1 900000000000207008 737594003 en 900000000000550004 A release characteristic where a dose form displays both a slower release of some of the active substance(s) than that of a conventional-release dose form and also displays a delayed release of some of the active substance(s) within the same dose form. This may be achieved by a special formulation design, manufacturing process or other methods. 900000000000017005 +3533946015 20180131 1 900000000000207008 736848004 en 900000000000550004 A release characteristic where a dose form displays an intentional delay in the release of the active substance(s) into the intestinal fluid. This may be achieved by gastro-resistant particles within the dose form or by a coating of the dose form itself. 900000000000017005 +3534531010 20180131 1 900000000000207008 370130000 en 900000000000550004 This attribute is used to specify the type of inherent quality, function, disposition or process characteristic that is being observed or measured. Its values are abstract types of quality (length, odor, concentration) or abstract types of process characteristic (rate, speed, duration), and do not include qualities that are located (length of arm, odor of urine), or given a value (elevated concentration). 900000000000017005 +3534531010 20190131 1 900000000000012004 370130000 en 900000000000550004 This attribute is used to specify the type of inherent quality, function, disposition or process characteristic that is being observed or measured. Its values are abstract types of quality (length, odor, concentration) or abstract types of process characteristic (rate, speed, duration), and do not include qualities that are located (length of arm, odor of urine), or given a value (elevated concentration). 900000000000017005 +3534683012 20180131 1 900000000000207008 738774007 en 900000000000550004 This attribute indicates that the concept is a structural modification of another concept. 900000000000017005 +3534683012 20190131 1 900000000000012004 738774007 en 900000000000550004 This attribute indicates that the concept is a structural modification of another concept. 900000000000017005 +3535095015 20180131 1 900000000000207008 243185007 en 900000000000550004 Advanced resuscitation efforts that extend beyond basic cardiopulmonary resuscitation. 900000000000017005 +3535101019 20180131 1 900000000000207008 739123003 en 900000000000550004 The European Resuscitation Council advanced life support (ALS) protocol is an algorithm of clinical interventions for the resuscitation of patients who have sustained cardiovascular arrest. It involves basic life support as well as additional advanced interventions such as invasive airway measures, electrocardiogram monitoring, defibrillation and medication administration. 900000000000017005 +3537320012 20180131 1 900000000000207008 417712000 en 900000000000550004 The limit of active motion. 900000000000017005 +3537321011 20180131 1 900000000000207008 416600003 en 900000000000550004 The limit to motion; in defining barriers, the palpatory end-feel characteristics are useful. 900000000000017005 +3537373012 20180131 1 900000000000207008 26629001 en 900000000000550004 An intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterised by diarrhoea, nutrient malabsorption, bowel dilation and dysmobility. 900000000000017005 +3537374018 20180131 1 900000000000207008 26629001 en 900000000000550004 An intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsorption, bowel dilation and dysmobility. 900000000000017005 +3537398013 20180131 1 900000000000207008 736849007 en 900000000000550004 A release characteristic where a dose form displays a rate and time of release of the active substance(s) in the dose form based on their intrinsic properties. 900000000000017005 +3537415013 20180131 1 900000000000207008 738904002 en 900000000000550004 An intended site for a dose form that is for administration by application to the skin, cutaneous wounds, nails or hair. 900000000000017005 +3537476017 20180131 1 900000000000207008 738906000 en 900000000000550004 An intended site for a dose form that is for administration to the teeth, around the nerves supplying the teeth or into the teeth. 900000000000017005 +3537521010 20180131 1 900000000000207008 738908004 en 900000000000550004 An intended site for a dose form that is for administration to the cervix uteri. 900000000000017005 +3537534011 20180131 1 900000000000207008 738910002 en 900000000000550004 An intended site for a dose form that is for administration into the stomach or duodenum by means of an appropriate device. 900000000000017005 +3537551016 20180131 1 900000000000207008 738943003 en 900000000000550004 An intended site for a dose form that is for administration to the gingivae. 900000000000017005 +3537560012 20180131 1 900000000000207008 738945005 en 900000000000550004 An intended site for a dose form that is for administration to the cavity of the uterus. 900000000000017005 +3537573011 20180131 1 900000000000207008 738946006 en 900000000000550004 An intended site for a dose form that is for administration to the cavity of the urinary bladder. 900000000000017005 +3537611014 20180131 1 900000000000207008 738952007 en 900000000000550004 An intended site for a dose form that is for administration to the eye or eye structures. 900000000000017005 +3537624014 20180131 1 900000000000207008 738956005 en 900000000000550004 An intended site for a dose form that is for administration by swallowing. 900000000000017005 +3537641011 20180131 1 900000000000207008 738982001 en 900000000000550004 An intended site for a dose form that is for administration to the oral cavity. 900000000000017005 +3537654016 20180131 1 900000000000207008 738983006 en 900000000000550004 An intended site for a dose form that is for administration to the external ear or ear canal. 900000000000017005 +3537663019 20180131 1 900000000000207008 738984000 en 900000000000550004 An intended site for a dose form that is for administration by injection. 900000000000017005 +3537672010 20180131 1 900000000000207008 738985004 en 900000000000550004 An intended site for a dose form that is for administration to the respiratory tract. 900000000000017005 +3537681016 20180131 1 900000000000207008 738986003 en 900000000000550004 An intended site for a dose form that is for administration to the rectum. 900000000000017005 +3537698016 20180131 1 900000000000207008 738987007 en 900000000000550004 An intended site for a dose form that is for administration to the skin in order to obtain an effect after absorption through the skin barrier. 900000000000017005 +3537707011 20180131 1 900000000000207008 738988002 en 900000000000550004 An intended site for a dose form that is for administration to the urethra. 900000000000017005 +3537716010 20180131 1 900000000000207008 738989005 en 900000000000550004 An intended site for a dose form that is for administration to the vagina. 900000000000017005 +3537817010 20180131 1 900000000000207008 16992002 en 900000000000550004 A manipulation done by an osteopath. 900000000000017005 +3537817010 20190731 0 900000000000207008 16992002 en 900000000000550004 A manipulation done by an osteopath. 900000000000017005 +3541375012 20180131 1 900000000000207008 738995006 en 900000000000550004 A method of administration of a dose form by taking into the mouth and allowing to pass down the throat. 900000000000017005 +3541402013 20180131 1 900000000000207008 738993004 en 900000000000550004 A method of administration of a dose form by being placed into a body cavity. 900000000000017005 +3541425014 20180131 1 900000000000207008 740666001 en 900000000000550004 A method of administration of a dose form into the respiratory tract by breathing, sucking or sniffing. 900000000000017005 +3541435015 20180131 1 900000000000207008 738992009 en 900000000000550004 A method of administration of a dose form by chewing or biting prior to allowing to pass down the throat. 900000000000017005 +3541444019 20180131 1 900000000000207008 738991002 en 900000000000550004 A method of administration of a dose form by placing or spreading on a body surface. 900000000000017005 +3541453014 20180131 1 900000000000207008 738990001 en 900000000000550004 A method of administration of a dose form by dispensing. 900000000000017005 +3541453014 20220630 0 900000000000207008 738990001 en 900000000000550004 A method of administration of a dose form by dispensing. 900000000000017005 +3541504011 20180131 1 900000000000207008 740685003 en 900000000000550004 A method of administration of a dose form by a parenteral route. 900000000000017005 +3541793011 20180131 1 900000000000207008 738994005 en 900000000000550004 A method of administration of a dose form gradually, possibly drop by drop. 900000000000017005 +3541794017 20180131 1 900000000000207008 19207007 en 900000000000550004 Skilled dextrous action of the hands directly applied to a body part. 900000000000017005 +3541815010 20180131 1 900000000000207008 408678008 en 900000000000550004 Infection associated with hospitalisation, not present or incubating prior to admission, but generally occurring more than 72 hours after admission. 900000000000017005 +3541816011 20180131 1 900000000000207008 408678008 en 900000000000550004 Infection associated with hospitalization, not present or incubating prior to admission, but generally occurring more than 72 hours after admission. 900000000000017005 +3543026014 20180131 1 900000000000207008 445211001 en 900000000000550004 Right-axis deviation with frontal QRS axis between 90° and 180° rS in leads I and aVL and qR in inferior leads (Q waves 40 ms); QRS duration 120 ms; Exclude other causes of right-axis deviation. 900000000000017005 +3543033014 20180131 1 900000000000207008 445118002 en 900000000000550004 Left anterior fascicular block is characterized by all of the following: Left-axis deviation with frontal QRS axis between 45° and 90°; Q wave in lead aVL; rS in inferior leads; QRS duration is 120 ms. 900000000000017005 +3543036018 20180131 1 900000000000207008 445118002 en 900000000000550004 Left anterior fascicular block is characterised by all of the following: Left-axis deviation with frontal QRS axis between 45° and 90°; Q wave in lead aVL ; rS in inferior leads; QRS duration is 120 ms. 900000000000017005 +3543044018 20180131 1 900000000000207008 741062008 en 900000000000550004 A status of being neither employed nor unemployed for example students, the retired, carers and also those who are not in work or seeking work. 900000000000017005 +3545518012 20180131 1 900000000000207008 741679001 en 900000000000550004 The American Heart Association advanced cardiac life support (ACLS) protocol is an algorithm of clinical interventions for the resuscitation of patients who have sustained cardiovascular arrest. It involves basic life support as well as additional advanced interventions such as invasive airway measures, electrocardiogram monitoring, defibrillation, and medication administration. 900000000000017005 +3550356019 20180131 1 900000000000207008 742876007 en 900000000000550004 A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes. 900000000000017005 +3620963013 20180131 1 900000000000207008 734544007 en 900000000000550004 A substance that modifies the immune response or the functioning of the immune system. 900000000000017005 +3621008011 20180131 1 900000000000207008 734816000 en 900000000000550004 A substance that can disturb the development of an embryo or fetus and cause a birth defect in the child or halt the pregnancy outright 900000000000017005 +3621010013 20180131 1 900000000000207008 734546009 en 900000000000550004 A substance capable of combining with a specific receptor on a cell and initiating the same reaction or activity typically produced by the binding endogenous substance 900000000000017005 +3621012017 20180131 1 900000000000207008 734547000 en 900000000000550004 A substance that acts within the body to reduce the physiological activity of another chemical substance. 900000000000017005 +3621020015 20180131 1 900000000000207008 734777009 en 900000000000550004 A substance that forms a complex with metal ions or other substrates 900000000000017005 +3621021016 20180131 1 900000000000207008 734617007 en 900000000000550004 A substance product produced by living cells that circulates in body fluids (as blood) or sap and produces a specific effect on the activity of cells usually remote from its point of origin 900000000000017005 +3621025013 20180131 1 900000000000207008 22741000087109 en 900000000000550004 A treatment approach that utilizes a localized form of radiation that treats only the lumpectomy bed plus a 1-2 cm margin. 900000000000017005 +3621026014 20180131 1 900000000000207008 22741000087109 en 900000000000550004 A treatment approach that utilises a localised form of radiation that treats only the lumpectomy bed plus a 1-2 cm margin. 900000000000017005 +3621051010 20180131 1 900000000000207008 758673004 en 900000000000550004 A general position for a supernumerary tooth located somewhere other than the midline of the dental arch. 900000000000017005 +3621081019 20180131 1 900000000000207008 734549002 en 900000000000550004 A substance such as a detergent that, when added to a liquid, reduces its surface tension, thereby increasing its spreading and wetting properties 900000000000017005 +3621122014 20180131 1 900000000000207008 734815001 en 900000000000550004 A toxin used by animals and injected into their victims by a bite or sting 900000000000017005 +3621123016 20180131 1 900000000000207008 734817009 en 900000000000550004 A substance that increases the risk of neoplasms in humans or animals either by directly affecting DNA or inducing neoplasms by other mechanisms 900000000000017005 +3621124010 20180131 1 900000000000207008 734539000 en 900000000000550004 A substance that alters biochemical processes in a cell, as by decreasing or increasing the activity of an enzyme 900000000000017005 +3621126012 20180131 1 900000000000207008 734873001 en 900000000000550004 A substance that destroys or impairs the function of living cells 900000000000017005 +3621138015 20180131 1 900000000000207008 14919007 en 900000000000550004 A rare benign pseudocyst found on the floor of the mouth that is associated with mucus extravasation that can occur spontaneously or as the result of trauma or obstruction to the salivary gland excretory duct and spillage of mucin into the surrounding soft tissues. 900000000000017005 +3621140013 20180131 1 900000000000207008 698032005 en 900000000000550004 A rare benign pseudocyst that extends into the submandibular space and is associated with mucus extravasation that can occur spontaneously or as the result of trauma or obstruction to the salivary gland excretory duct and spillage of mucin into the surrounding soft tissues. 900000000000017005 +3633812019 20180131 1 900000000000207008 734545008 en 900000000000550004 A disposition pertaining to the pathogenesis of a disease or illness 900000000000017005 +3633873017 20180131 1 900000000000207008 734818004 en 900000000000550004 A substance that is produced by a living organism and is toxic, noxious, or poisonous. 900000000000017005 +3633875012 20180131 1 900000000000207008 738526005 en 900000000000550004 A rare type of juvenile idiopathic inflammatory myopathy with onset before 18 years of age of chronic skeletal muscle inflammation, manifesting as progressive, proximal and distal muscle weakness and atrophy. 900000000000017005 +3633876013 20180131 1 900000000000207008 17802000 en 900000000000550004 A supernumerary tooth located near the midline of the dental arch between two central incisors. 900000000000017005 +3634197016 20180131 1 900000000000207008 761895005 en 900000000000550004 Seating aid used for postural control and management. 900000000000017005 +3634399012 20180131 1 900000000000207008 761958009 en 900000000000550004 A rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumour necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumours have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported. 900000000000017005 +3634400017 20180131 1 900000000000207008 761958009 en 900000000000550004 A rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumor necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumors have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported. 900000000000017005 +3634515018 20180131 1 900000000000207008 421716009 en 900000000000550004 A dose form that is an assembly of components for transdermal delivery driven by external forces. 900000000000017005 +3634852010 20180131 1 900000000000207008 734874007 en 900000000000550004 A substance that competes with, replaces or inhibits a specific metabolite of a cell and thereby interferes with the cell's normal metabolic functioning. 900000000000017005 +3635416014 20180131 1 900000000000207008 420275007 en 900000000000550004 A dose form that displays properties between those of a liquid and those of a solid. 900000000000017005 +3635417017 20180131 1 900000000000207008 421131006 en 900000000000550004 A dose form that displays properties of a gas. 900000000000017005 +3635418010 20180131 1 900000000000207008 420699003 en 900000000000550004 A dose form that displays properties of a liquid. 900000000000017005 +3635419019 20180131 1 900000000000207008 421378002 en 900000000000550004 A dose form that displays properties of a solid. 900000000000017005 +3635421012 20180131 1 900000000000207008 422186009 en 900000000000550004 A liquid dose form consisting an alcoholic extract of plant or animal material. 900000000000017005 +3635422017 20180131 1 900000000000207008 385115001 en 900000000000550004 A liquid dose form consisting of active substance(s) in a mixture of ether and ethanol. 900000000000017005 +3635422017 20220630 0 900000000000207008 385115001 en 900000000000550004 A liquid dose form consisting of active substance(s) in a mixture of ether and ethanol. 900000000000017005 +3635423010 20180131 1 900000000000207008 422259002 en 900000000000550004 A liquid dose form consisting of active substance(s) in an alcohol. 900000000000017005 +3635424016 20180131 1 900000000000207008 421890007 en 900000000000550004 A liquid dose form consisting of active substance(s) dissolved in a hydrophobic base. 900000000000017005 +3635425015 20180131 1 900000000000207008 421166008 en 900000000000550004 A liquid dose form usually presented in a pressurised multi-dose container equipped with an applicator suitable for delivery of a foam consisting of large volumes of gas dispersed in a liquid containing active substance(s). 900000000000017005 +3635426019 20180131 1 900000000000207008 385101003 en 900000000000550004 A semi-solid dose form consisting of a single-phase in which solids or liquids may be dissolved or dispersed in the base, which may be hydrophilic, hydrophobic or water-emulsifying. 900000000000017005 +3635428018 20180131 1 900000000000207008 385100002 en 900000000000550004 A semi-solid dose form consisting of a hydrophilic gel. 900000000000017005 +3635429014 20180131 1 900000000000207008 385099005 en 900000000000550004 A semi-solid dose form of homogeneous appearance consisting of a lipophilic phase and an aqueous phase, one of which is finely dispersed in the other. Active substance(s) are dissolved or dispersed in the basis, which may be hydrophilic or hydrophobic. 900000000000017005 +3635430016 20180131 1 900000000000207008 385117009 en 900000000000550004 A semi-solid preparation consisting of a hydrophilic heat-retentive basis in which solid or liquid active substance(s) are dispersed. 900000000000017005 +3635431017 20180131 1 900000000000207008 385043007 en 900000000000550004 A solid dose form consisting of dry aggregates of powder particles that are sufficiently resistant to withstand handling. 900000000000017005 +3635432012 20180131 1 900000000000207008 420768007 en 900000000000550004 A solid dose form consisting of large granules, usually formed by extrusion. 900000000000017005 +3635433019 20180131 1 900000000000207008 429885007 en 900000000000550004 A solid dose form that is rectangular in shape. 900000000000017005 +3635434013 20180131 1 900000000000207008 385064006 en 900000000000550004 A solid preparation for homeopathic use, obtained from sucrose, lactose or other suitable excipients. 900000000000017005 +3635438011 20180131 1 900000000000207008 420243009 en 900000000000550004 A solid single-dose form consisting of a suitable material intended for insertion into a body cavity for a limited time prior to removal. 900000000000017005 +3635439015 20180131 1 900000000000207008 385194003 en 900000000000550004 A solid single-dose form of active substance(s) dispersed or dissolved in a suitable basis that may be soluble or dispersible or may melt at body temperature. 900000000000017005 +3635440018 20180131 1 900000000000207008 421288004 en 900000000000550004 A solid single-dose form consisting of a suitable material. Sponges are intended for insertion into a body cavity for a limited time prior to removal. 900000000000017005 +3635441019 20180131 1 900000000000207008 385049006 en 900000000000550004 A solid single-dose form that is a shell made of gelatin or other substances. The contents of the shell may be a solid, semi-solid or liquid. 900000000000017005 +3635444010 20180131 1 900000000000207008 420460001 en 900000000000550004 A solid single-dose form that is a single layer or multilayer sheet of suitable material(s) intended to disperse rapidly. 900000000000017005 +3635445011 20180131 1 900000000000207008 385048003 en 900000000000550004 A solid single-dose form that is a wafer enclosing a unit dose. 900000000000017005 +3635446012 20180131 1 900000000000207008 421079001 en 900000000000550004 A solid single-dose form that is soft or flexible and prepared by moulding of mixtures containing natural or synthetic polymers or gums. 900000000000017005 +3635447015 20180131 1 900000000000207008 426210003 en 900000000000550004 A solid single-dose form with a gum-like consistency. 900000000000017005 +3635449017 20180131 1 900000000000207008 46992007 en 900000000000550004 A solid single-dose preparation of small size and round or oval in shape. 900000000000017005 +3635450017 20180131 1 900000000000207008 385286003 en 900000000000550004 A solid, sterile single-dose form suitable for implantation that may be provided with an administration device. Implants are intended for release over an extended period of time. 900000000000017005 +3635451018 20180131 1 900000000000207008 421532009 en 900000000000550004 A solid, sterile single-dose form suitable for insertion into a body cavity that may be provided with an administration device. Inserts are intended for release over an extended period of time. 900000000000017005 +3635452013 20180131 1 900000000000207008 385055001 en 900000000000550004 A solid single-dose preparation obtained by compressing uniform volumes of particulate solids or by extrusion or moulding. Tablets may be single layer tablets resulting from a single compression of particles and or multilayer tablets consisting of concentric or parallel layers obtained by successive compressions of particles of different composition. 900000000000017005 +3635453015 20180131 1 900000000000207008 739008005 en 900000000000550004 A liquid dose form consisting of a suspension of fine particles in a suitable vehicle. 900000000000017005 +3635454014 20180131 1 900000000000207008 739009002 en 900000000000550004 A liquid dose form consisting of active substance(s) dissolved in a concentrated solution of sugar. 900000000000017005 +3635455010 20180131 1 900000000000207008 739006009 en 900000000000550004 A liquid dose form consisting of active substance(s) in an aqueous solution. 900000000000017005 +3635456011 20180131 1 900000000000207008 738998008 en 900000000000550004 A liquid dose form consisting of an oil-in-water emulsion. 900000000000017005 +3635456011 20220630 0 900000000000207008 738998008 en 900000000000550004 A liquid dose form consisting of an oil-in-water emulsion. 900000000000017005 +3635457019 20180131 1 900000000000207008 739002006 en 900000000000550004 A semi-solid dose form consisting of solid particles finely dispersed in a suitable base. 900000000000017005 +3635458012 20180131 1 900000000000207008 739010007 en 900000000000550004 A solid dose form consisting of a long narrow strip of flexible material. 900000000000017005 +3635459016 20180131 1 900000000000207008 739007000 en 900000000000550004 A solid dose form usually rod or conical in shape. 900000000000017005 +3635460014 20180131 1 900000000000207008 739005008 en 900000000000550004 A solid dose form consisting of one or more particulate solids of varying degrees of fineness. 900000000000017005 +3635462018 20180131 1 900000000000207008 739003001 en 900000000000550004 A solid single-dose form that is flexible and intended to be applied to a body surface to release the active substance(s) over a period of time. 900000000000017005 +3635463011 20180131 1 900000000000207008 739001004 en 900000000000550004 A solid single-dose preparation made by freeze-drying of a liquid or semi-solid preparation. 900000000000017005 +3635495012 20180131 1 900000000000207008 385174007 en 900000000000550004 A solid single-dose form usually prepared by moulding consisting of active substance(s) dispersed or dissolved in a suitable basis that may be soluble or dispersible or may melt at body temperature. 900000000000017005 +3635496013 20180131 1 900000000000207008 739004007 en 900000000000550004 A solid single-dose form consisting of a suitable absorbent material. Pledgets are intended for insertion into a body or application to a body surface. 900000000000017005 +3635500010 20180131 1 900000000000207008 762708005 en 900000000000550004 A macroscopic waste clearance system that utilizes a unique system of perivascular channels, formed by astroglial cells, to promote efficient elimination of soluble proteins and metabolites from the central nervous system. 900000000000017005 +3635539018 20180131 1 900000000000207008 762708005 en 900000000000550004 A macroscopic waste clearance system that utilises a unique system of perivascular channels, formed by astroglial cells, to promote efficient elimination of soluble proteins and metabolites from the central nervous system. 900000000000017005 +3637360012 20180131 1 900000000000207008 738948007 en 900000000000550004 An intended site for a dose form that is for administration to the nose or nasal tissues. 900000000000017005 +3637361011 20180131 1 900000000000207008 738996007 en 900000000000550004 A method of administration of a dose form as tiny drops or fine powder. 900000000000017005 +3637733019 20180731 1 900000000000207008 763061004 en 900000000000550004 A rare chromosomal anomaly syndrome caused by partial duplication of the long arm of chromosome 20. The disorder has characteristics of psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptorchidism are often associated features. 900000000000017005 +3637737018 20180731 1 900000000000207008 763062006 en 900000000000550004 A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. 900000000000017005 +3637738011 20180731 1 900000000000207008 763062006 en 900000000000550004 A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterised by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioural problems (e.g. hyperactivity, chaotic/repetitive behaviour, touch avoidance) are also associated. 900000000000017005 +3637742014 20180731 1 900000000000207008 763063001 en 900000000000550004 A rare slow-growing uterine cancer with histological characteristics of small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk human papilloma virus (HPV) types (16 and 33) has been reported in some cases. 900000000000017005 +3637746012 20180731 1 900000000000207008 763064007 en 900000000000550004 A rare highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumour is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence. 900000000000017005 +3637747015 20180731 1 900000000000207008 763064007 en 900000000000550004 A rare highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent hematogenous spread and early recurrence. 900000000000017005 +3637751018 20180731 1 900000000000207008 763065008 en 900000000000550004 A rare genetic persistent combined dystonia with characteristics of clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present with extrapyramidal signs, such as resting tremor, choreoathetosis and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present. 900000000000017005 +3637763011 20180731 1 900000000000207008 763067000 en 900000000000550004 A rare distal hereditary motor neuropathy with a variable clinical phenotype and typical characteristics of congenital, non-progressive, predominantly distal lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated. 900000000000017005 +3637766015 20180731 1 900000000000207008 763068005 en 900000000000550004 A type of hereditary spastic paraplegia with usual characteristics of pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (more than 30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. 900000000000017005 +3637769010 20180731 1 900000000000207008 763069002 en 900000000000550004 A pure form of hereditary spastic paraplegia with onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. 900000000000017005 +3637772015 20180731 1 900000000000207008 763070001 en 900000000000550004 A pure form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. 900000000000017005 +3637945016 20180731 1 900000000000207008 763127004 en 900000000000550004 A rare paroxysmal movement disorder with episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements). This is accompanied by ataxic symptoms (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset. 900000000000017005 +3637946015 20180731 1 900000000000207008 763128009 en 900000000000550004 A rare genetic bone disorder with the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling. 900000000000017005 +3637952019 20180731 1 900000000000207008 763129001 en 900000000000550004 A rare benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia. 900000000000017005 +3637953012 20180731 1 900000000000207008 763129001 en 900000000000550004 A rare benign cutaneous neoplasm containing keratinised epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnoea, dysphagia or dysphonia. 900000000000017005 +3637957013 20180731 1 900000000000207008 763130006 en 900000000000550004 A rare genetic syndrome with characteristics of cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. 900000000000017005 +3637961019 20180731 1 900000000000207008 763131005 en 900000000000550004 A rare malignant, epithelial ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported. 900000000000017005 +3637966012 20180731 1 900000000000207008 763132003 en 900000000000550004 A rare developmental defect during embryogenesis with a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome. 900000000000017005 +3637971017 20180731 1 900000000000207008 763133008 en 900000000000550004 A rare developmental defect during embryogenesis with characteristics of unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome. 900000000000017005 +3637978011 20180731 1 900000000000207008 763135001 en 900000000000550004 A congenital hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 with characteristics of Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical Charcot-Marie-Tooth phenotype, for example distal muscle weakness and atrophy, sensory loss, and foot deformity. 900000000000017005 +3637983015 20180731 1 900000000000207008 763136000 en 900000000000550004 A rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibres on sural nerve biopsy is equally characteristic of the disease. 900000000000017005 +3637984014 20180731 1 900000000000207008 763136000 en 900000000000550004 A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease. 900000000000017005 +3638113012 20180731 1 900000000000207008 763186006 en 900000000000550004 A rare intellectual disability syndrome characterized by pre and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency has also been reported in some patients. 900000000000017005 +3638128012 20180731 1 900000000000207008 763066009 en 900000000000550004 A rare genetic multiple congenital anomaly syndrome with characteristics of atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly placed anus, rectovaginal fistula) defects. 900000000000017005 +3638151012 20180731 1 900000000000207008 763110007 en 900000000000550004 A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesia) and reduced tendon reflexes. The disease course is severe but nonprogressive. 900000000000017005 +3638155015 20180731 1 900000000000207008 763203009 en 900000000000550004 A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. Caused by homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22. 900000000000017005 +3638158018 20180731 1 900000000000207008 763204003 en 900000000000550004 A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life. 900000000000017005 +3638162012 20180731 1 900000000000207008 763186006 en 900000000000550004 A rare intellectual disability syndrome characterised by pre and postnatal growth deficiency, generalised muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency has also been reported in some patients. 900000000000017005 +3638174011 20180731 1 900000000000207008 763209008 en 900000000000550004 A rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. Caused by compound heterozygous mutation in the MRPL3 gene on chromosome 3q22. 900000000000017005 +3638179018 20180731 1 900000000000207008 763209008 en 900000000000550004 A rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterised by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnoea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. Caused by compound heterozygous mutation in the MRPL3 gene on chromosome 3q22. 900000000000017005 +3638180015 20180731 1 900000000000207008 763211004 en 900000000000550004 A rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiencies of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver. 900000000000017005 +3638181016 20180731 1 900000000000207008 763211004 en 900000000000550004 A rare mitochondrial disease characterised by axial hypotonia with limb hypertonia, developmental delay, hyperlactataemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiencies of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver. 900000000000017005 +3638184012 20180731 1 900000000000207008 763212006 en 900000000000550004 A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990. 900000000000017005 +3638185013 20180731 1 900000000000207008 763212006 en 900000000000550004 A disorder of lipid absorption and transport characterised by steatorrhoea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990. 900000000000017005 +3638189019 20180731 1 900000000000207008 763213001 en 900000000000550004 A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. 900000000000017005 +3638203012 20180731 1 900000000000207008 763215008 en 900000000000550004 A rare maxillofacial disorder with characteristics of significant reduction in mouth opening in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported. 900000000000017005 +3638212014 20180731 1 900000000000207008 763218005 en 900000000000550004 A rare neuro-ophthalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). 900000000000017005 +3638213016 20180731 1 900000000000207008 763218005 en 900000000000550004 A rare neuro-ophthalmological disorder characterised by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anaesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). 900000000000017005 +3638221010 20180731 1 900000000000207008 763220008 en 900000000000550004 A rare benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area. 900000000000017005 +3638222015 20180731 1 900000000000207008 763220008 en 900000000000550004 A rare benign cutaneous neoplasm containing keratinised epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area. 900000000000017005 +3638349017 20180731 1 900000000000207008 763272003 en 900000000000550004 A rare chromosomal anomaly resulting from the partial duplication of the long arm of chromosome 2. The disorder has characteristics of moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed. 900000000000017005 +3638352013 20180731 1 900000000000207008 763273008 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 4. The disorder has a highly variable phenotype with typical characteristics of psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro/retrognathia), seizures, tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. 900000000000017005 +3638357019 20180731 1 900000000000207008 763274002 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial duplication of the long arm of chromosome 5. The disorder has characteristics of short stature, moderate intellectual disability, craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). 900000000000017005 +3638361013 20180731 1 900000000000207008 763275001 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6. The disorder has a highly variable phenotype with typical characteristics of growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity and seizures are other features that have been reported. 900000000000017005 +3638365016 20180731 1 900000000000207008 763276000 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 7. The disorder has a highly variable phenotype with typical characteristics of severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high and/or broad forehead, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro/retrognathia) and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported. 900000000000017005 +3638369010 20180731 1 900000000000207008 763277009 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8. The disorder has a highly variable phenotype with typical characteristics of growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects, skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss and seizures). 900000000000017005 +3638372015 20180731 1 900000000000207008 763278004 en 900000000000550004 A rare genetic developmental defect during embryogenesis with characteristics of severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum and mixed hearing loss. 900000000000017005 +3638381014 20180731 1 900000000000207008 763279007 en 900000000000550004 A rare multiple congenital anomalies syndrome with characteristics of distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid's bow upper lip vermilion and small, low-set, posteriorly rotated ears), cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. 900000000000017005 +3638384018 20180731 1 900000000000207008 763280005 en 900000000000550004 A rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. 900000000000017005 +3638496014 20180731 1 900000000000207008 763309005 en 900000000000550004 A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. 900000000000017005 +3638497017 20180731 1 900000000000207008 763309005 en 900000000000550004 A subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of myeloid blasts harbouring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. 900000000000017005 +3638499019 20180731 1 900000000000207008 763310000 en 900000000000550004 A rare neurologic disease with characteristics of rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointestinal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases. 900000000000017005 +3638506017 20180731 1 900000000000207008 763311001 en 900000000000550004 An extremely rare genetic endocrine disease with characteristics of primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. 900000000000017005 +3638509012 20180731 1 900000000000207008 763312008 en 900000000000550004 A rare genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and in some, retrocerebellar cysts. 900000000000017005 +3638510019 20180731 1 900000000000207008 763312008 en 900000000000550004 A rare genetic, slowly progressive neurodegenerative disease characterised by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalised cerebellar atrophy, mild ventriculomegaly and in some, retrocerebellar cysts. 900000000000017005 +3638517016 20180731 1 900000000000207008 763314009 en 900000000000550004 A rare genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. 900000000000017005 +3638518014 20180731 1 900000000000207008 763314009 en 900000000000550004 A rare genetic neuromuscular disease characterised by congenital hypotonia, generalised, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. 900000000000017005 +3638521011 20180731 1 900000000000207008 763315005 en 900000000000550004 A rare genetic, non-dystrophic myopathy with characteristics of fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. 900000000000017005 +3638524015 20180731 1 900000000000207008 763316006 en 900000000000550004 A rare congenital arterial duct anomaly with characteristics of saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures can develop. Spontaneous resolution has been reported. 900000000000017005 +3638528017 20180731 1 900000000000207008 763317002 en 900000000000550004 A very rare developmental defect during embryogenesis with characteristics of varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties that may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis. 900000000000017005 +3638535013 20180731 1 900000000000207008 763318007 en 900000000000550004 A rare genetic disease caused by lack of lysyl hydroxylase-3 (LH3) activity with characteristics of multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. The disorder is caused by mutation in the PLOD3 gene, which encodes lysyl hydroxylase-3 900000000000017005 +3638542013 20180731 1 900000000000207008 763320005 en 900000000000550004 A rare multiple congenital anomalies syndrome with characteristics of mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). 900000000000017005 +3638627015 20180731 1 900000000000207008 763344007 en 900000000000550004 A rare neuro-ophthalmological disease with characteristics of nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. Caused by homozygous or compound heterozygous mutation in the LAMA1 gene on chromosome 18p11. 900000000000017005 +3638631014 20180731 1 900000000000207008 763345008 en 900000000000550004 A subtype of Charcot-Marie-Tooth type 4 with characteristics of childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities and the typical Charcot-Marie-Tooth phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). There is evidence this disease is caused by homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. 900000000000017005 +3638637013 20180731 1 900000000000207008 763346009 en 900000000000550004 A rare lethal congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. 900000000000017005 +3638638015 20180731 1 900000000000207008 763346009 en 900000000000550004 A rare lethal congenital myopathy syndrome characterised by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal haemorrhages and decreased birth weight in the neonate. 900000000000017005 +3638641012 20180731 1 900000000000207008 763347000 en 900000000000550004 A rare genetic principally axonal peripheral sensorimotor neuropathy with an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, pan modal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). 900000000000017005 +3638645015 20180731 1 900000000000207008 763348005 en 900000000000550004 A rare genetic neurodegenerative disease with childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliosis and abnormalities of the brain (e.g. cerebral atrophy) may also be associated. 900000000000017005 +3638649014 20180731 1 900000000000207008 763349002 en 900000000000550004 A rare genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. 900000000000017005 +3638650014 20180731 1 900000000000207008 763349002 en 900000000000550004 A rare genetic epilepsy syndrome characterised by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localised and/or generalised paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. 900000000000017005 +3638654017 20180731 1 900000000000207008 763350002 en 900000000000550004 A rare syndromic intellectual disability with primary characteristics of moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. 900000000000017005 +3638660017 20180731 1 900000000000207008 763351003 en 900000000000550004 A rare genetic neurological disease due to SPTBN2 (spectrin beta, non-erythrocytic 2) mutations. The disease has characteristics of global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). Caused by homozygous mutation in the SPTBN2 gene on chromosome 11q13. 900000000000017005 +3638664014 20180731 1 900000000000207008 763352005 en 900000000000550004 A rare paroxysmal movement disorder with onset in childhood or adolescence. The disease has characteristics of paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. 900000000000017005 +3640233016 20180731 1 900000000000207008 763366000 en 900000000000550004 A rare genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (including extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form has characteristics of delayed psychomotor development, seizures, early-onset hypotonia and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age and temporary high lactate levels, with overall clinical improvement from the second year onward. The disease is caused by homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p. 900000000000017005 +3640236012 20180731 1 900000000000207008 763367009 en 900000000000550004 A form of hereditary spastic paraplegia with usual characteristics of a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and Parkinsonism as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging) has also been reported. 900000000000017005 +3640245013 20180731 1 900000000000207008 763369007 en 900000000000550004 A pure form of hereditary spastic paraplegia with a childhood to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. 900000000000017005 +3640248010 20180731 1 900000000000207008 763370008 en 900000000000550004 A pure form of hereditary spastic paraplegia with late childhood to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. 900000000000017005 +3640258014 20180731 1 900000000000207008 763373005 en 900000000000550004 A form of hereditary spastic paraplegia characterised by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalised muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted on brain magnetic resonance imaging in some patients. The disease is caused by homozygous or compound heterozygous mutation in the CYP7B1 gene on chromosome 8q12. 900000000000017005 +3640259018 20180731 1 900000000000207008 763373005 en 900000000000550004 A form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted on brain magnetic resonance imaging in some patients. The disease is caused by homozygous or compound heterozygous mutation in the CYP7B1 gene on chromosome 8q12. 900000000000017005 +3640262015 20180731 1 900000000000207008 763374004 en 900000000000550004 A pure form of hereditary spastic paraplegia with a childhood to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. The disease is caused by heterozygous mutation in the RTN2 gene on chromosome 19q13. 900000000000017005 +3640265018 20180731 1 900000000000207008 763375003 en 900000000000550004 A pure form of hereditary spastic paraplegia with characteristics of a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. 900000000000017005 +3640268016 20180731 1 900000000000207008 763376002 en 900000000000550004 A pure form of hereditary spastic paraplegia with a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. The disease is caused by homozygous or compound heterozygous mutation in the DDHD1 gene on chromosome 14q22. 900000000000017005 +3640270013 20180731 1 900000000000207008 763377006 en 900000000000550004 A form of hereditary spastic paraplegia presenting with either a pure spastic paraplegia phenotype, usually in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. 900000000000017005 +3640801016 20180731 1 900000000000207008 763404001 en 900000000000550004 An ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. 900000000000017005 +3640802011 20180731 1 900000000000207008 763404001 en 900000000000550004 An ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. 900000000000017005 +3642069010 20180731 1 900000000000207008 763400005 en 900000000000550004 A rare genetic axonal peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the neonatal to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group) as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. The disease is caused by mutation in the AIFM1 gene on chromosome Xq26. 900000000000017005 +3642109010 20180731 1 900000000000207008 763401009 en 900000000000550004 A rare syndromic congenital ichthyosis with characteristics of premature birth in addition to thick caseous and desquamating epidermis, neonatal respiratory asphyxia and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. The disease is caused by mutation in the FATP4 (SLC27A4) gene. 900000000000017005 +3642113015 20180731 1 900000000000207008 763402002 en 900000000000550004 A complex form of hereditary spastic paraplegia with characteristics of spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. 900000000000017005 +3642118012 20180731 1 900000000000207008 763403007 en 900000000000550004 A complex form of hereditary spastic paraplegia with characteristics of delay in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. 900000000000017005 +3642122019 20180731 1 900000000000207008 763405000 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype. The syndrome has characteristics of pre and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias). 900000000000017005 +3642126016 20180731 1 900000000000207008 763406004 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial deletion of chromosome 16, with characteristics of pre and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecanthus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported. 900000000000017005 +3642130018 20180731 1 900000000000207008 763407008 en 900000000000550004 A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed. 900000000000017005 +3642131019 20180731 1 900000000000207008 763407008 en 900000000000550004 A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterised by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed. 900000000000017005 +3642135011 20180731 1 900000000000207008 763408003 en 900000000000550004 A rare highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported. 900000000000017005 +3642138013 20180731 1 900000000000207008 763409006 en 900000000000550004 An extremely rare highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported. 900000000000017005 +3642513010 20180731 1 900000000000207008 763456009 en 900000000000550004 A metal alloy that forms an outer mesh structure with an inner polymer tube. 900000000000017005 +3642514016 20180731 1 900000000000207008 763455008 en 900000000000550004 A rare genetic, peripheral sensorimotor neuropathy with an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported. The disease is caused by hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. 900000000000017005 +3642517011 20180731 1 900000000000207008 763457000 en 900000000000550004 A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infantile to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. 900000000000017005 +3642520015 20180731 1 900000000000207008 763458005 en 900000000000550004 A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the childhood to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pan sensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. 900000000000017005 +3642527017 20180731 1 900000000000207008 763460007 en 900000000000550004 A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infancy to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral profound prelingual sensorineural hearing loss and progressive optic neuropathy. Females are asymptomatic and do not display the phenotype. 900000000000017005 +3642539013 20180731 1 900000000000207008 763462004 en 900000000000550004 A rare genetic developmental defect during embryogenesis. The disease has the typical lethal multiple pterygium syndrome presentation comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the second or third trimester with an X-linked pattern of inheritance. 900000000000017005 +3642575010 20180731 1 900000000000207008 763475004 en 900000000000550004 A rare acquired dermal elastic tissue disorder characterized by multiple, 2-3 millimeter sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region. 900000000000017005 +3642576011 20180731 1 900000000000207008 763475004 en 900000000000550004 A rare acquired dermal elastic tissue disorder characterised by multiple, 2-3 millimetre sized, non-confluent, asymptomatic, white or pale-coloured, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region. 900000000000017005 +3642590014 20180731 1 900000000000207008 763477007 en 900000000000550004 An extremely rare clonal lymphoid proliferation of the ocular surface with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, and excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare. 900000000000017005 +3642590014 20210930 0 900000000000207008 763477007 en 900000000000550004 An extremely rare clonal lymphoid proliferation of the ocular surface with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, and excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare. 900000000000017005 +3642598019 20180731 1 900000000000207008 763479005 en 900000000000550004 A rare aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration. 900000000000017005 +3642599010 20180731 1 900000000000207008 763479005 en 900000000000550004 A rare aggressive subtype of invasive breast carcinoma characterised by rapid growth, relatively large tumour size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumour shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration. 900000000000017005 +3642741011 20180731 1 900000000000207008 763527007 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 13. The syndrome has a highly variable phenotype and typical characteristics of varying degrees of intellectual disability and developmental delay, as well as central nervous system malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported. 900000000000017005 +3642747010 20180731 1 900000000000207008 763528002 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 3. The syndrome has a highly variable phenotype with typical characteristics of pre and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. 900000000000017005 +3642752017 20180731 1 900000000000207008 763529005 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 7. The syndrome has a highly variable phenotype with typical characteristics of holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. 900000000000017005 +3642757011 20180731 1 900000000000207008 763530000 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 9. The syndrome has a highly variable phenotype with typical characteristics of intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. 900000000000017005 +3642762012 20180731 1 900000000000207008 763531001 en 900000000000550004 A rare disorder of mineral absorption and transport characterised by hypocupraemia that manifests as failure to thrive, mild anaemia, repeated seizures, hypotonia and seborrhoeic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982. 900000000000017005 +3642763019 20180731 1 900000000000207008 763531001 en 900000000000550004 A rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982. 900000000000017005 +3642766010 20180731 1 900000000000207008 763532008 en 900000000000550004 A rare genetic otorhinolaryngologic disease characterised by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnoea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions. 900000000000017005 +3642767018 20180731 1 900000000000207008 763532008 en 900000000000550004 A rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions. 900000000000017005 +3642771015 20180731 1 900000000000207008 763533003 en 900000000000550004 A rare genetic neuromuscular disease characterised by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammertoes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilises. 900000000000017005 +3642772010 20180731 1 900000000000207008 763533003 en 900000000000550004 A rare genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammertoes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes. 900000000000017005 +3642775012 20180731 1 900000000000207008 763534009 en 900000000000550004 A rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases. 900000000000017005 +3642776013 20180731 1 900000000000207008 763534009 en 900000000000550004 A rare neurologic disease characterised by the onset of generalised or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalised tonic-clonic seizures have been reported in rare cases. 900000000000017005 +3642786014 20180731 1 900000000000207008 763536006 en 900000000000550004 A rare genetic intestinal disease with the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. There is evidence this disease is caused by heterozygous mutation in the RNF43 gene on chromosome 17q22. 900000000000017005 +3643033013 20180731 1 900000000000207008 763615003 en 900000000000550004 A developmental anomaly with characteristics as birth of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. 900000000000017005 +3643037014 20180731 1 900000000000207008 763616002 en 900000000000550004 A very rare multiple congenital anomalies syndrome with short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. 900000000000017005 +3643041013 20180731 1 900000000000207008 763617006 en 900000000000550004 A rare benign congenital malformation of the lymphatic system with a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the second year of life and depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated. 900000000000017005 +3643045016 20180731 1 900000000000207008 763618001 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back and seizures. There is evidence the disease is caused by heterozygous mutation in the MLL gene on chromosome 11q23. 900000000000017005 +3643049010 20180731 1 900000000000207008 763619009 en 900000000000550004 A multiple congenital anomalies syndrome with characteristics of poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins) and skeletal (clinodactyly, syndactyly of the fingers and second and third toes) systems. There have been no further descriptions in the literature since 1980. 900000000000017005 +3643059011 20180731 1 900000000000207008 763621004 en 900000000000550004 A rare acquired eye disease due to long-term exposure to chloroquine or hydroxychloroquine with slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss. 900000000000017005 +3643060018 20180731 1 900000000000207008 763621004 en 900000000000550004 A rare acquired eye disease due to long-term exposure to chloroquine or hydroxychloroquine with slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced colour vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss. 900000000000017005 +3643062014 20180731 1 900000000000207008 763622006 en 900000000000550004 A rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems, playing thinking games (e.g. chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed. 900000000000017005 +3643063016 20180731 1 900000000000207008 763622006 en 900000000000550004 A rare neurologic disease characterised by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems, playing thinking games (e.g. chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalised seizures are mainly involved, but partial epilepsies may, in rare cases, be observed. 900000000000017005 +3643073019 20180731 1 900000000000207008 763623001 en 900000000000550004 A rare primary immunodeficiency disorder due to impaired capacity of activated T and B-cells to proliferate in response to antigen receptor-mediated activation. The disease has characteristics of early-onset severe persistent and/or recurrent viral infections due to Epstein-Barr virus and Varicella Zoster virus as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. 900000000000017005 +3643077018 20180731 1 900000000000207008 763624007 en 900000000000550004 A rare genetic non-syndromic congenital limb malformation with characteristics of unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second and third-toe fusion. Some individuals present only with webbing between second and third toes without involvement of fingers. 900000000000017005 +3643094016 20180731 1 900000000000207008 763630007 en 900000000000550004 A rare multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases. 900000000000017005 +3643096019 20180731 1 900000000000207008 763630007 en 900000000000550004 A rare multisystemic autoimmune disease mainly characterised by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhoea that could lead to malnutrition, growth retardation, and amenorrhoea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases. 900000000000017005 +3643101019 20180731 1 900000000000207008 763631006 en 900000000000550004 A multiple congenital anomalies syndrome with characteristics of wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge and microstomia. 900000000000017005 +3643106012 20180731 1 900000000000207008 763632004 en 900000000000550004 A rare neurologic disease with characteristics of frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemiplegia, spastic diplegia or spastic tetraplegia and intellectual disability. 900000000000017005 +3643219017 20180731 1 900000000000207008 763665007 en 900000000000550004 Syndrome with manifestations of syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. Less than 10 cases have been described in the literature so far. Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported. Transmission appears to be autosomal or X-linked recessive. 900000000000017005 +3643223013 20180731 1 900000000000207008 763666008 en 900000000000550004 A rare indolent B-cell non-Hodgkin lymphoma characterised by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anaemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune haemolytic anaemia and autoimmune thrombocytopenia could be associated. 900000000000017005 +3643224019 20180731 1 900000000000207008 763666008 en 900000000000550004 A rare indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia could be associated. 900000000000017005 +3643233017 20180731 1 900000000000207008 763668009 en 900000000000550004 Syndrome with characteristics of frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive. 900000000000017005 +3643237016 20180731 1 900000000000207008 763669001 en 900000000000550004 A rare hereditary ataxia with characteristics of an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis. Nystagmus may also be present. 900000000000017005 +3643275016 20180731 1 900000000000207008 763683004 en 900000000000550004 A rare genetic disorder of sex development with either the coexistence of both male and female reproductive gonads or, more frequently, the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal neoplasm are frequently associated. 900000000000017005 +3643277012 20180731 1 900000000000207008 763684005 en 900000000000550004 A rare bone development disorder with characteristics of intellectual disability, short stature, turribrachycephaly, facial dysmorphism (severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (including syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987. 900000000000017005 +3643288018 20180731 1 900000000000207008 763686007 en 900000000000550004 An extremely rare ectodermal dysplasia syndrome with characteristics of premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. 900000000000017005 +3643294014 20180731 1 900000000000207008 763688008 en 900000000000550004 A rare mitochondrial disease with marked clinical variability typically and characteristics of encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated. 900000000000017005 +3643299016 20180731 1 900000000000207008 763691008 en 900000000000550004 A rare genetic non-syndromic congenital limb malformation with characteristics of angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging. 900000000000017005 +3643396013 20180731 1 900000000000207008 763658004 en 900000000000550004 An extremely rare ectodermal dysplasia syndrome with characteristics of hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. 900000000000017005 +3643455011 20180731 1 900000000000207008 763714006 en 900000000000550004 A rare genetic capillary malformation characterised by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in colour and often thicken with age. There is evidence that congenital capillary malformations can be caused by somatic mosaic mutation in the GNAQ gene on chromosome 9q21. 900000000000017005 +3643456012 20180731 1 900000000000207008 763714006 en 900000000000550004 A rare genetic capillary malformation characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age. There is evidence that congenital capillary malformations can be caused by somatic mosaic mutation in the GNAQ gene on chromosome 9q21. 900000000000017005 +3643461014 20180731 1 900000000000207008 763715007 en 900000000000550004 A rare genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. 900000000000017005 +3643462019 20180731 1 900000000000207008 763715007 en 900000000000550004 A rare genetic endocrine disorder characterised by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumour) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinaemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhoea and galactorrhoea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhoea and primary infertility have also been reported in some female patients. 900000000000017005 +3643465017 20180731 1 900000000000207008 763716008 en 900000000000550004 A rare non-syndromic urogenital tract malformation with the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. 900000000000017005 +3643468015 20180731 1 900000000000207008 763717004 en 900000000000550004 A rare non-syndromic central nervous system malformation disorder with characteristics of severe microcephaly, overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly. 900000000000017005 +3643473014 20180731 1 900000000000207008 763718009 en 900000000000550004 A rare genetic distal myopathy with characteristics of slowly progressive distal to proximal limb muscle weakness and atrophy and early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. 900000000000017005 +3643476018 20180731 1 900000000000207008 763719001 en 900000000000550004 A very rare Epstein-Barr virus-associated malignant lymphoproliferative disorder characterised by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial oedema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported. 900000000000017005 +3643476018 20200131 0 900000000000207008 763719001 en 900000000000550004 A very rare Epstein-Barr virus-associated malignant lymphoproliferative disorder characterised by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial oedema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported. 900000000000017005 +3643477010 20180731 1 900000000000207008 763719001 en 900000000000550004 A very rare Epstein-Barr virus-associated malignant lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported. 900000000000017005 +3643477010 20200131 0 900000000000207008 763719001 en 900000000000550004 A very rare Epstein-Barr virus-associated malignant lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported. 900000000000017005 +3643484019 20180731 1 900000000000207008 763720007 en 900000000000550004 A rare genetic inborn error of metabolism characterised by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninaemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine. The disease is caused by homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. 900000000000017005 +3643485018 20180731 1 900000000000207008 763720007 en 900000000000550004 A rare genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine. The disease is caused by homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. 900000000000017005 +3643491016 20180731 1 900000000000207008 763721006 en 900000000000550004 A rare inborn error of metabolism characterised by persistent hypermethioninaemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycaemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. There is evidence the disease is caused by homozygous mutation in the ADK gene on chromosome 10q22. 900000000000017005 +3643492011 20180731 1 900000000000207008 763721006 en 900000000000550004 A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. There is evidence the disease is caused by homozygous mutation in the ADK gene on chromosome 10q22. 900000000000017005 +3643496014 20180731 1 900000000000207008 763722004 en 900000000000550004 A rare genetic neurodegenerative disorder with characteristics of severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). 900000000000017005 +3643506017 20180731 1 900000000000207008 95794005 en 900000000000550004 An ophthalmoplegic syndrome, affecting all age groups, with characteristics of acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredictable course with spontaneous remission occurring in some and recurrence of attacks in others. 900000000000017005 +3643576016 20180731 1 900000000000207008 763739002 en 900000000000550004 A rare neurologic disease with characteristics of unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes. 900000000000017005 +3643587012 20180731 1 900000000000207008 763740000 en 900000000000550004 A rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia. 900000000000017005 +3643588019 20180731 1 900000000000207008 763740000 en 900000000000550004 A rare intoxication affecting children, most commonly characterised by erythema of the hands, feet and nose, oedematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paraesthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia. 900000000000017005 +3643594010 20180731 1 900000000000207008 763741001 en 900000000000550004 A rare genetic intellectual disability syndrome with characteristics of delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals. 900000000000017005 +3643598013 20180731 1 900000000000207008 763742008 en 900000000000550004 A multiple congenital anomalies/dysmorphic syndrome with characteristics of intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognathism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported. 900000000000017005 +3643602010 20180731 1 900000000000207008 763743003 en 900000000000550004 A rare intellectual disability syndrome with characteristics of severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). 900000000000017005 +3643605012 20180731 1 900000000000207008 763744009 en 900000000000550004 A rare developmental defect during embryogenesis with characteristics of mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set and posteriorly angulated ears, bulbous nose, long/flat philtrum and bow-shaped upper lip). Skeletal anomalies such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. 900000000000017005 +3643610011 20180731 1 900000000000207008 763745005 en 900000000000550004 A rare intellectual disability syndrome with manifestations of severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias. 900000000000017005 +3643617014 20180731 1 900000000000207008 763747002 en 900000000000550004 A rare non-syndromic congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated. 900000000000017005 +3643618016 20180731 1 900000000000207008 763747002 en 900000000000550004 A rare non-syndromic congenital heart malformation characterised by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnoea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated. 900000000000017005 +3643625011 20180731 1 900000000000207008 763748007 en 900000000000550004 A rare genetic developmental defect during embryogenesis disorder with characteristics of the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. There is evidence the disorder is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22. 900000000000017005 +3643758014 20180731 1 900000000000207008 763755009 en 900000000000550004 A rare multiple congenital anomalies syndrome with manifestations of bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995. 900000000000017005 +3643763013 20180731 1 900000000000207008 763767006 en 900000000000550004 A rare benign congenital genetic skin disorder with characteristics of permanent and asymptomatic erythema of the palmar and less frequently the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient. 900000000000017005 +3643768016 20180731 1 900000000000207008 763768001 en 900000000000550004 An inherited non-syndromic congenital ichthyosis characterised by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatised regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular oedema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment. 900000000000017005 +3643769012 20180731 1 900000000000207008 763768001 en 900000000000550004 An inherited non-syndromic congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment. 900000000000017005 +3643776019 20180731 1 900000000000207008 763770005 en 900000000000550004 A rare genetic movement disorder with characteristics of autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. The disease is caused by heterozygous mutation in the NOL3 gene on chromosome 16q22. 900000000000017005 +3643782016 20180731 1 900000000000207008 763771009 en 900000000000550004 A rare malignant mesenchymal tumour of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastasise haematogenously, especially to the lungs, peritoneum, bones and the liver. 900000000000017005 +3643783014 20180731 1 900000000000207008 763771009 en 900000000000550004 A rare malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastasize hematogenously, especially to the lungs, peritoneum, bones and the liver. 900000000000017005 +3643789013 20180731 1 900000000000207008 763772002 en 900000000000550004 A rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnoea, pneumonia). Gastrointestinal manifestations (diarrhoea, vomiting, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed. 900000000000017005 +3643790016 20180731 1 900000000000207008 763772002 en 900000000000550004 A rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomiting, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed. 900000000000017005 +3643791017 20180731 1 900000000000207008 763794005 en 900000000000550004 A rare neuroimmunological disorder characterised by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalisation, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatraemia. It is most often non-paraneoplastic, however comorbid tumours, such as small cell lung cancer and thymoma, have been reported. 900000000000017005 +3643791017 20220630 0 900000000000207008 763794005 en 900000000000550004 A rare neuroimmunological disorder characterised by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalisation, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatraemia. It is most often non-paraneoplastic, however comorbid tumours, such as small cell lung cancer and thymoma, have been reported. 900000000000017005 +3643792012 20180731 1 900000000000207008 763794005 en 900000000000550004 A rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported. 900000000000017005 +3643792012 20220630 0 900000000000207008 763794005 en 900000000000550004 A rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported. 900000000000017005 +3643798011 20180731 1 900000000000207008 763774001 en 900000000000550004 A rare multiple congenital anomalies syndrome with characteristics of facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. 900000000000017005 +3643802012 20180731 1 900000000000207008 763775000 en 900000000000550004 An inherited epidermal disorder with characteristics of palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. The disease is caused by homozygous mutation in the POMP gene. 900000000000017005 +3643806010 20180731 1 900000000000207008 763776004 en 900000000000550004 A rare genetic distal myopathy with characteristics of slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. 900000000000017005 +3643818018 20180731 1 900000000000207008 763778003 en 900000000000550004 A rare genetic primary bone dysplasia with characteristics of laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. 900000000000017005 +3644004016 20180731 1 900000000000207008 763792009 en 900000000000550004 A rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. There is evidence the disease can be caused by homozygous or heterozygous mutation in the PLCD1 gene on chromosome 3p22-p21.3. 900000000000017005 +3644005015 20180731 1 900000000000207008 763792009 en 900000000000550004 A rare nail anomaly disorder characterised by complete white discolouration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. There is evidence the disease can be caused by homozygous or heterozygous mutation in the PLCD1 gene on chromosome 3p22-p21.3. 900000000000017005 +3644009014 20180731 1 900000000000207008 763793004 en 900000000000550004 A rare neuroimmunological disorder with the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia. 900000000000017005 +3644009014 20220630 0 900000000000207008 763793004 en 900000000000550004 A rare neuroimmunological disorder with the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia. 900000000000017005 +3644013019 20180731 1 900000000000207008 763773007 en 900000000000550004 A rare intellectual disability syndrome characterised by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioural abnormalities (e.g. anxiety, stereotyped movements) and absence or generalised tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. 900000000000017005 +3644014013 20180731 1 900000000000207008 763773007 en 900000000000550004 A rare intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. 900000000000017005 +3644018011 20180731 1 900000000000207008 763795006 en 900000000000550004 A multiple congenital anomalies syndrome characterised by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behaviour, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhoea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. The disease is caused by heterozygous mutation in the NFIX gene on chromosome 19p13. 900000000000017005 +3644019015 20180731 1 900000000000207008 763795006 en 900000000000550004 A multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. The disease is caused by heterozygous mutation in the NFIX gene on chromosome 19p13. 900000000000017005 +3644023011 20180731 1 900000000000207008 763796007 en 900000000000550004 A rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. 900000000000017005 +3644024017 20180731 1 900000000000207008 763796007 en 900000000000550004 A rare subtype of acute myeloid leukaemia with recurrent cytogenetic abnormalities characterised by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anaemia, thrombocytopenia and nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. 900000000000017005 +3644031018 20180731 1 900000000000207008 763797003 en 900000000000550004 A rare genetic developmental defect during embryogenesis syndrome with characteristics of agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophrys) and optic atrophy have been observed. The disease is caused by mutation in the ARX gene. 900000000000017005 +3644037019 20180731 1 900000000000207008 763798008 en 900000000000550004 An extremely rare subtype of hereditary motor and sensory neuropathy with characteristics of severe, rapidly progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. 900000000000017005 +3644054010 20180731 1 900000000000207008 763803004 en 900000000000550004 A rare life threatening acquired neurologic disease with characteristics of neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases. 900000000000017005 +3644093018 20180731 1 900000000000207008 763815000 en 900000000000550004 A rare genetic developmental defect during embryogenesis with characteristics of various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus and lobule aplasia). There is evidence the disease is caused by homozygous mutation in the HMX1 gene on chromosome 4p16. 900000000000017005 +3644103012 20180731 1 900000000000207008 763865009 en 900000000000550004 A rare subtype of low-grade glioma of the central nervous system characterised by a well circumscribed, often cystic, brain tumour with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localisation and the size of the tumour, patients can present with signs of raised intracranial pressure (headache, vomiting, papilloedema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported. 900000000000017005 +3644104018 20180731 1 900000000000207008 763865009 en 900000000000550004 A rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported. 900000000000017005 +3644139018 20180731 1 900000000000207008 763827002 en 900000000000550004 A rare neurologic disease characterised by complex partial seizures with or without secondary generalisation, or idiopathic primarily generalised epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine. 900000000000017005 +3644140016 20180731 1 900000000000207008 763827002 en 900000000000550004 A rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine. 900000000000017005 +3644151016 20180731 1 900000000000207008 763829004 en 900000000000550004 A rare genetic neuromuscular disease with characteristics of progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare. 900000000000017005 +3644155013 20180731 1 900000000000207008 763830009 en 900000000000550004 A rare genetic bone developmental disorder with characteristics of short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. 900000000000017005 +3644664019 20180731 1 900000000000207008 763835004 en 900000000000550004 A rare subtype of orofaciodigital syndrome, with sporadic occurrence and characteristics of cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis on brain MRI examination is also associated. 900000000000017005 +3644681011 20180731 1 900000000000207008 763839005 en 900000000000550004 A rare severe and life-threatening genetic disease occurring during the neonatal period. The disease has characteristics of classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. 900000000000017005 +3644737013 20180731 1 900000000000207008 416122009 en 900000000000550004 Striking the skin with cupped palms to produce vibrations with the intention of loosening material in the lumen of hollow tubes or sacs within the body, particularly the lungs. 900000000000017005 +3644738015 20180731 1 900000000000207008 763821001 en 900000000000550004 A rare central nervous system malformation syndrome with characteristics of bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. 900000000000017005 +3644756015 20180731 1 900000000000207008 763866005 en 900000000000550004 A rare genetic developmental defect during embryogenesis with primary characteristics of congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. 900000000000017005 +3644777017 20180731 1 900000000000207008 763860004 en 900000000000550004 A rare genetic developmental defect during embryogenesis with characteristics of distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated. 900000000000017005 +3644783019 20180731 1 900000000000207008 763861000 en 900000000000550004 A rare genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and on occasion headache are also associated. 900000000000017005 +3644784013 20180731 1 900000000000207008 763861000 en 900000000000550004 A rare genetic neurological disorder characterised by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalised tonic-clonic) and on occasion headache are also associated. 900000000000017005 +3644792016 20180731 1 900000000000207008 763863002 en 900000000000550004 A rare multiple congenital anomalies syndrome with characteristics of relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. 900000000000017005 +3644794015 20180731 1 900000000000207008 763864008 en 900000000000550004 A rare generally benign lymphoproliferative hematological disease characterized by chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly. 900000000000017005 +3644796018 20180731 1 900000000000207008 763864008 en 900000000000550004 A rare generally benign lymphoproliferative haematological disease characterised by chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly. 900000000000017005 +3644808017 20180731 1 900000000000207008 763868006 en 900000000000550004 A primary bone dysplasia with characteristics of height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs. Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never. 900000000000017005 +3644812011 20180731 1 900000000000207008 763869003 en 900000000000550004 A rare neurological disease characterized by the development of paresthesia as well as in severe cases progressive paresis and paralysis following irradiation of tumors in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered. 900000000000017005 +3644813018 20180731 1 900000000000207008 763869003 en 900000000000550004 A rare neurological disease characterised by the development of paraesthesia as well as in severe cases progressive paresis and paralysis following irradiation of tumours in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered. 900000000000017005 +3644901010 20180731 1 900000000000207008 722859001 en 900000000000550004 A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. 900000000000017005 +3645132015 20180731 1 900000000000207008 763884007 en 900000000000550004 A rare indolent B-cell non-Hodgkin lymphoma with characteristics of abnormal proliferation of small monomorphous basophilic B-lymphocytes with villous cytoplasm in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenia is rare and likely associated with hypersplenism. 900000000000017005 +3645135018 20180731 1 900000000000207008 763885008 en 900000000000550004 A rare genetic primary bone dysplasia with characteristics of three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances and many have decreased joint spaces and sclerotic and cystic changes on imaging. 900000000000017005 +3645135018 20210131 0 900000000000207008 763885008 en 900000000000550004 A rare genetic primary bone dysplasia with characteristics of three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances and many have decreased joint spaces and sclerotic and cystic changes on imaging. 900000000000017005 +3645138016 20180731 1 900000000000207008 763886009 en 900000000000550004 A rare genetic primary bone dysplasia with highly variable phenotype typically characterised by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralisation of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability. 900000000000017005 +3645139012 20180731 1 900000000000207008 763886009 en 900000000000550004 A rare genetic primary bone dysplasia with highly variable phenotype typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability. 900000000000017005 +3645150010 20180731 1 900000000000207008 763888005 en 900000000000550004 A rare bacterial pulmonary infectious disease caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated. 900000000000017005 +3645151014 20180731 1 900000000000207008 763888005 en 900000000000550004 A rare bacterial pulmonary infectious disease caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterised by severe respiratory failure, extensive, rapidly progressing pneumonia and haemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as haemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated. 900000000000017005 +3645154018 20180731 1 900000000000207008 763889002 en 900000000000550004 A rare developmental defect during embryogenesis with the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet and hypertrichosis. 900000000000017005 +3645158015 20180731 1 900000000000207008 763890006 en 900000000000550004 A rare genetic congenital hypothyroidism disorder with characteristics of mild global developmental delay in childhood, short stature, delayed bone age and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness and impaired hearing have also been reported. The disease can be caused by homozygous or compound heterozygous mutation in the SECISBP2 gene on chromosome 9q22. 900000000000017005 +3645163016 20180731 1 900000000000207008 763891005 en 900000000000550004 A rare genetic developmental defect during embryogenesis syndrome with the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. 900000000000017005 +3645172012 20180731 1 900000000000207008 763893008 en 900000000000550004 A rare primary bone dysplasia characterised by severe early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centres and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, and joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. 900000000000017005 +3645173019 20180731 1 900000000000207008 763893008 en 900000000000550004 A rare primary bone dysplasia characterized by severe early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, and joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. 900000000000017005 +3645181018 20180731 1 900000000000207008 763895001 en 900000000000550004 A rare genetic non-dystrophic myopathy characterised by early diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofibre basement membrane and absent collagen VI around most endomysial/perimysial capillaries. There is evidence the disease is caused by homozygous mutation in the COL6A2 gene. 900000000000017005 +3646013016 20180731 1 900000000000207008 763833006 en 900000000000550004 A rare neurodevelopmental disorder that is lethal in males and with characteristics of variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system and of viscera (kidneys, pancreas and ovaries) in females. The disease is caused by mutations in the OFD1 gene (Xp22). A fraction of cases display genomic deletions. High penetrance has been reported but expression is highly variable. Follows an X-linked dominant pattern of inheritance. The gene mutations commonly occur de novo. 900000000000017005 +3646014010 20180731 1 900000000000207008 763802009 en 900000000000550004 A rare neurologic disease with characteristics of tonic posturing or clonic movements triggered by micturition. Involvement of the extremities may be unilateral or bilateral. This may occur with or without loss of consciousness. Developmental delay is reported in some cases. 900000000000017005 +3646026017 20180731 1 900000000000207008 764095005 en 900000000000550004 Syndrome with characteristics of ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far eight cases have been described. There is evidence that the disease is caused by homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. 900000000000017005 +3646030019 20180731 1 900000000000207008 764096006 en 900000000000550004 A rare genetic male infertility due to sperm disorder with characteristics of the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece and/or tail. 900000000000017005 +3646038014 20180731 1 900000000000207008 764097002 en 900000000000550004 A rare genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, with typical characteristics of progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-1,000-and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed. 900000000000017005 +3646038014 20200731 0 900000000000207008 764097002 en 900000000000550004 A rare genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, with typical characteristics of progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-1,000-and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed. 900000000000017005 +3646042012 20180731 1 900000000000207008 764098007 en 900000000000550004 A rare genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, with typical characteristics of bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition. 900000000000017005 +3646042012 20200731 0 900000000000207008 764098007 en 900000000000550004 A rare genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, with typical characteristics of bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition. 900000000000017005 +3646051016 20180731 1 900000000000207008 764100007 en 900000000000550004 A rare genetic vascular anomaly with characteristics of severe blood vessel expansion most frequently within the craniofacial bones with painless bone enlargement usually of mandibula, maxilla and/or orbital, nasal and frontal bones. This typically results in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos and loss of vision, nausea, and vomiting. There is evidence the disease is caused by homozygous mutation in the ELMO2 gene on chromosome 20q13. 900000000000017005 +3646065019 20180731 1 900000000000207008 764104003 en 900000000000550004 A rare flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms such as fever, headache, generalised maculopapular rash, myalgia, arthralgia and, occasionally eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss and signs of meningitis) and pulmonary compromise. 900000000000017005 +3646066018 20180731 1 900000000000207008 764104003 en 900000000000550004 A rare flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, occasionally eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss and signs of meningitis) and pulmonary compromise. 900000000000017005 +3646072018 20180731 1 900000000000207008 764105002 en 900000000000550004 A rare acquired idiopathic dermal tissue disorder characterized by numerous asymptomatic 2-3 millimeter yellowish, non-follicular papules that tend to converge into cobblestone-like plaques. The plaques are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike pseudoxanthoma elasticum, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement. 900000000000017005 +3646073011 20180731 1 900000000000207008 764105002 en 900000000000550004 A rare acquired idiopathic dermal tissue disorder characterised by numerous asymptomatic 2-3 millimetre yellowish, non-follicular papules that tend to converge into cobblestone-like plaques. The plaques are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike pseudoxanthoma elasticum, these skin lesions show select elimination (absence or marked loss) of elastic fibres in the papillary dermis and there is no systemic involvement. 900000000000017005 +3646107010 20180731 1 900000000000207008 764108000 en 900000000000550004 A very rare hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although the syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. There is evidence the disease is caused by homozygous mutation in the KANK2 gene on chromosome 19p13. 900000000000017005 +3646108017 20180731 1 900000000000207008 764108000 en 900000000000550004 A very rare hereditary epidermal disorder characterised by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although the syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. There is evidence the disease is caused by homozygous mutation in the KANK2 gene on chromosome 19p13 900000000000017005 +3649599014 20180731 1 900000000000207008 764435003 en 900000000000550004 Syndrome with significant variations in manifestations even among members of the same family. Some affected individuals have no apparent signs or symptoms or only mild features, while others may have intellectual disability, delayed development and a wide range of physical abnormalities. Seizures are common and autistic spectrum disorder, schizophrenia, aggression, self-injury have been reported. Microcephaly, abnormalities of the eyes, heart, kidneys and brain are also associated features. 900000000000017005 +3649600012 20180731 1 900000000000207008 764437006 en 900000000000550004 Syndrome with abnormal development of the arms resulting in characteristic arm malformations that can vary in severity. Bones in the elbows are abnormally shaped which affects mobility of the joints. Wrist bones are fused forming structures that resemble those in the ankles and heels and causing permanent radial deviation. The metacarpals are longer than normal along with brachydactyly. Life expectancy is normal. The syndrome is caused by genetic changes near the PITX1 gene. Inherited in an autosomal dominant pattern. 900000000000017005 +3649601011 20180731 1 900000000000207008 764440006 en 900000000000550004 Syndrome with common characteristics of macrocephaly, tall stature and intellectual disability that is usually moderate in severity. Many affected individuals have significantly delayed development, hypotonia and ataxia. Other manifestations include seizures, abnormalities of brain structure and mild facial dysmorphism for example prominent forehead. The syndrome is not typically inherited. 900000000000017005 +3649615013 20180731 1 900000000000207008 764452004 en 900000000000550004 Syndrome with characteristics of macroaneurysms of retina which may rupture causing bleeding and loss of vision, in association with supravalvular pulmonic stenosis. The disease is caused by a mutation in the IGFBP7 (insulin-like growth factor-binding protein 7) gene which is active in the vascular endothelium. The IGFBP7 gene mutation results in an abnormally short IGFBP7 protein that does not function properly. 900000000000017005 +3649621012 20180731 1 900000000000207008 764457005 en 900000000000550004 Syndrome with characteristics of a variety of cardiac problems related to arrhythmia. The disease may be associated with problems with the sinoatrial node, which may lead to bradycardia. In a small number of cases prolonged QT interval may occur. Some affected individuals have impaired conduction leading to heart block. Other manifestations include atrial fibrillation, ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia. Arrhythmia can lead to syncope, cardiac arrest and sudden death. Caused by mutations in the ANK2 gene leading to production of an altered ankyrin-B protein that cannot target ion channels to their correct locations in cardiac muscle cells. Inherited in an autosomal dominant pattern. 900000000000017005 +3649871013 20180731 1 900000000000207008 764447009 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 11 with high phenotypic variability. Principle characteristics are craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (atrial septal defect), skeletal (brachy/syndactyly) and genital (micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. 900000000000017005 +3649872018 20180731 1 900000000000207008 764459008 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 16 with variable phenotype. Principle characteristics are developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. 900000000000017005 +3649874017 20180731 1 900000000000207008 764500002 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from partial trisomy of the long arm of chromosome 20 with high phenotypic variability. The disease has characteristics of neurodevelopmental delay, cardiac malformations (ventricular septal defect, coarctation of aorta) and facial dysmorphism (large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. 900000000000017005 +3649899016 20180731 1 900000000000207008 764453009 en 900000000000550004 Syndrome with characteristics of episodes of myoclonus. Renal disease is an inconsistent feature occuring in some but not all cases. Myoclonic jerks typically occur in the torso, upper and lower limbs and face. Some affected individuals develop seizures, peripheral neuropathy or sensorineural hearing loss. Where renal problems occur, an early sign is proteinuria. Age of onset and the clinical course may vary even among members of the same family. The syndrome is caused by mutations in the SCARB2 gene leading to production of an altered LIMP-2 protein that cannot get to the lysosome. As a result, the movement of beta-glucocerebrosidase to lysosomes is impaired. Inherited in an autosomal recessive pattern. 900000000000017005 +3649899016 20220630 0 900000000000207008 764453009 en 900000000000550004 Syndrome with characteristics of episodes of myoclonus. Renal disease is an inconsistent feature occuring in some but not all cases. Myoclonic jerks typically occur in the torso, upper and lower limbs and face. Some affected individuals develop seizures, peripheral neuropathy or sensorineural hearing loss. Where renal problems occur, an early sign is proteinuria. Age of onset and the clinical course may vary even among members of the same family. The syndrome is caused by mutations in the SCARB2 gene leading to production of an altered LIMP-2 protein that cannot get to the lysosome. As a result, the movement of beta-glucocerebrosidase to lysosomes is impaired. Inherited in an autosomal recessive pattern. 900000000000017005 +3649906015 20180731 1 900000000000207008 764512003 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 22 with variable phenotype. Principle characteristics are varying degrees of intellectual disability and developmental delay, pre and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies have also been reported. 900000000000017005 +3649907012 20180731 1 900000000000207008 764518004 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 2 with a highly variable phenotype. Principle characteristics are pre and post-natal growth failure, global developmental delay, facial dysmorphism (high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (ventricular, atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. 900000000000017005 +3649908019 20180731 1 900000000000207008 764519007 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 3 with highly variable phenotype. Principle characteristics are craniofacial dysmorphism (brachy/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (patent ductus arteriosus) and urogenital (renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers. 900000000000017005 +3649919016 20180731 1 900000000000207008 764456001 en 900000000000550004 Inherited disorder characterised by episodes of metabolic crisis and acute encephalopathy. Life-threatening episodes manifest with poor feeding, vomiting, weight loss, lethargy, tachypnea, seizures or coma and are caused by hyperammonaemia, metabolic acidosis, respiratory alkalosis, hypoglycaemia and reduced production of bicarbonate in the liver. Caused by mutations in the CA5A gene resulting in absent or impaired carbonic anhydrase VA enzyme function leading to reduced bicarbonate production. Inherited in an autosomal recessive pattern. 900000000000017005 +3649920010 20180731 1 900000000000207008 764456001 en 900000000000550004 Inherited disorder characterized by episodes of metabolic crisis and acute encephalopathy. Life-threatening episodes manifest with poor feeding, vomiting, weight loss, lethargy, tachypnea, seizures or coma and are caused by hyperammonemia, metabolic acidosis, respiratory alkalosis, hypoglycemia and reduced production of bicarbonate in the liver. Caused by mutations in the CA5A gene resulting in absent or impaired carbonic anhydrase VA enzyme function leading to reduced bicarbonate production. Inherited in an autosomal recessive pattern. 900000000000017005 +3649932014 20180731 1 900000000000207008 764520001 en 900000000000550004 A rare chromosomal anomaly resulting from the partial trisomy of the long arm of chromosome 9 with a variable phenotype. The disease has characteristics of psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed. 900000000000017005 +3649935011 20180731 1 900000000000207008 764522009 en 900000000000550004 A rare genetic epilepsy disorder with characteristics of autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietal-occipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described. 900000000000017005 +3649936012 20180731 1 900000000000207008 764523004 en 900000000000550004 A rare genetic hair anomaly with characteristics of a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. There is evidence the disease is caused by homozygous mutation in the FGF5 gene on chromosome 4q21. 900000000000017005 +3649941016 20180731 1 900000000000207008 764460003 en 900000000000550004 Syndrome with characteristics of extremely short stature and other skeletal abnormalities including kyphoscoliosis, hyperlordosis, hip dislocation, hypermobility, dental problems and distinctive facial features. Mild intellectual disability may also be present. The disorder can be caused by mutations in the RMRP gene. This condition is inherited in an autosomal recessive pattern. 900000000000017005 +3649954011 20180731 1 900000000000207008 764461004 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype. The principle characteristics are growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (radial ray defects, scoliosis) malformations. Death usually occurs neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, facial clefts and anal atresia. 900000000000017005 +3649960011 20180731 1 900000000000207008 764463001 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are developmental or growth delay, short stature, craniofacial dysmorphism (turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry and intellectual disability have also been reported. 900000000000017005 +3649970013 20180731 1 900000000000207008 764466009 en 900000000000550004 A rare chromosomal anomaly disorder with a highly variable phenotype. Principle characteristics are growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retrognathia and cleft or highly arched palate. 900000000000017005 +3650047017 20180731 1 900000000000207008 764524005 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 22 with a highly variable phenotype. Principle characteristics are developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslanting palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities and seizures have also been reported. 900000000000017005 +3650048010 20180731 1 900000000000207008 699311001 en 900000000000550004 The association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial, establishing a complementary duplication syndrome. The clinical presentation of patients is extremely variable and shares features with 22q11.2 deletion syndromes including heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. 900000000000017005 +3650049019 20180731 1 900000000000207008 435651000124106 en 900000000000550004 A meal plan that offers comparable carbohydrate content from day to day at all meals and snacks. Not based on a set number of calories; intended to meet individuals' nutritional needs and facilitate improved metabolic control. 900000000000017005 +3650050019 20180731 1 900000000000207008 439111000124103 en 900000000000550004 Replace normal consistency foods with those that are blended, chopped, ground or mashed so that they are easy to chew and swallow. Treatment for chewing and swallowing problems. 900000000000017005 +3650081011 20180731 1 900000000000207008 435791000124107 en 900000000000550004 Increase or decrease in protein content of the diet. 900000000000017005 +3650163010 20180731 1 900000000000207008 764454003 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 13 with variable phenotype. Principle characteristics are intellectual disability, psychomotor delay, craniofacial dysmorphism (microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. 900000000000017005 +3650164016 20180731 1 900000000000207008 764454003 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 13 with variable phenotype. Principle characteristics are intellectual disability, psychomotor delay, craniofacial dysmorphism (microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and haemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. 900000000000017005 +3650195011 20180731 1 900000000000207008 764521002 en 900000000000550004 A very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberrations. 900000000000017005 +3650196012 20180731 1 900000000000207008 764521002 en 900000000000550004 A very rare congenital anomaly of the great arteries characterised by the presence of two aortic arches (right and left) which encircle and compress the trachea and oesophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnoea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Oesophageal atresia and tracheooesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberrations. 900000000000017005 +3650206013 20180731 1 900000000000207008 764525006 en 900000000000550004 A rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsarcolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. 900000000000017005 +3650208014 20180731 1 900000000000207008 764525006 en 900000000000550004 A rare form of congenital myopathy characterised by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsarcolemmal areas of muscle fibres) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. 900000000000017005 +3650211010 20180731 1 900000000000207008 437061000124108 en 900000000000550004 Decrease in insoluble fibre content of the diet compared to the assessed baseline intake of insoluble fibre for the individual. 900000000000017005 +3650212015 20180731 1 900000000000207008 437061000124108 en 900000000000550004 Decrease in insoluble fiber content of the diet compared to the assessed baseline intake of insoluble fiber for the individual. 900000000000017005 +3650213013 20180731 1 900000000000207008 437051000124106 en 900000000000550004 Increase in insoluble fibre content of the diet compared to the assessed baseline intake of insoluble fibre for the individual. 900000000000017005 +3650215018 20180731 1 900000000000207008 437051000124106 en 900000000000550004 Increase in insoluble fiber content of the diet compared to the assessed baseline intake of insoluble fiber for the individual. 900000000000017005 +3650216017 20180731 1 900000000000207008 437041000124109 en 900000000000550004 Decrease in soluble fibre content of the diet compared to the assessed baseline intake of soluble fibre for the individual. 900000000000017005 +3650218016 20180731 1 900000000000207008 437041000124109 en 900000000000550004 Decrease in soluble fiber content of the diet compared to the assessed baseline intake of soluble fiber for the individual. 900000000000017005 +3650219012 20180731 1 900000000000207008 437031000124104 en 900000000000550004 Increase in soluble fibre content of the diet compared to the assessed baseline intake of insoluble fibre for the individual. 900000000000017005 +3650220018 20180731 1 900000000000207008 437031000124104 en 900000000000550004 Increase in soluble fiber content of the diet compared to the assessed baseline intake of insoluble fiber for the individual. 900000000000017005 +3650222014 20180731 1 900000000000207008 437021000124102 en 900000000000550004 Increase or decrease in insoluble fiber content of the diet. 900000000000017005 +3650224010 20180731 1 900000000000207008 437021000124102 en 900000000000550004 Increase or decrease in insoluble fibre content of the diet. 900000000000017005 +3650225011 20180731 1 900000000000207008 437011000124105 en 900000000000550004 Increase or decrease in soluble fiber content of the diet. 900000000000017005 +3650226012 20180731 1 900000000000207008 437011000124105 en 900000000000550004 Increase or decrease in soluble fibre content of the diet. 900000000000017005 +3650228013 20180731 1 900000000000207008 437001000124107 en 900000000000550004 Decrease in fiber content of the diet compared to the assessed baseline intake of fiber for the individual. 900000000000017005 +3650230010 20180731 1 900000000000207008 437001000124107 en 900000000000550004 Decrease in fibre content of the diet compared to the assessed baseline intake of fibre for the individual. 900000000000017005 +3650231014 20180731 1 900000000000207008 435771000124106 en 900000000000550004 A diet which meets current professional recommendations of a healthy eating pattern. 900000000000017005 +3650232019 20180731 1 900000000000207008 437271000124107 en 900000000000550004 Decrease in calcium content of the diet compared to the assessed baseline intake of calcium for the individual. 900000000000017005 +3650233012 20180731 1 900000000000207008 437631000124106 en 900000000000550004 Decrease in casein content of the diet compared to the assessed baseline intake of casein for the individual. 900000000000017005 +3650234018 20180731 1 900000000000207008 436711000124106 en 900000000000550004 Decrease in cholesterol content of the diet compared to the assessed baseline intake of cholesterol for the individual. 900000000000017005 +3650235017 20180731 1 900000000000207008 438161000124106 en 900000000000550004 Decrease in folic acid content of the diet compared to the assessed baseline intake of folic acid for the individual. 900000000000017005 +3650236016 20180731 1 900000000000207008 436701000124108 en 900000000000550004 Decrease in galactose content of the diet compared to the assessed baseline intake of galactose for the individual. 900000000000017005 +3650237013 20180731 1 900000000000207008 436991000124104 en 900000000000550004 Increase in fibre content of the diet compared to the assessed baseline intake of fibre for the individual. 900000000000017005 +3650238015 20180731 1 900000000000207008 436991000124104 en 900000000000550004 Increase in fiber content of the diet compared to the assessed baseline intake of fiber for the individual. 900000000000017005 +3650245015 20180731 1 900000000000207008 435721000124105 en 900000000000550004 Increase or decrease in fibre content of the diet. 900000000000017005 +3650246019 20180731 1 900000000000207008 435721000124105 en 900000000000550004 Increase or decrease in fiber content of the diet. 900000000000017005 +3650247011 20180731 1 900000000000207008 438011000124109 en 900000000000550004 Increase or decrease in folic acid content of the diet. Prevention of megaloblastic anemia and risk of neural tube defects in the newborn. 900000000000017005 +3650248018 20180731 1 900000000000207008 438011000124109 en 900000000000550004 Increase or decrease in folic acid content of the diet. Prevention of megaloblastic anaemia and risk of neural tube defects in the newborn. 900000000000017005 +3650747012 20180731 1 900000000000207008 437711000124108 en 900000000000550004 Decrease in histidine content of the diet compared to the assessed baseline intake of histidine for the individual. 900000000000017005 +3650748019 20180731 1 900000000000207008 437341000124106 en 900000000000550004 Decrease in iron content of the diet compared to the assessed baseline intake of iron for the individual. 900000000000017005 +3651126010 20180731 1 900000000000207008 437731000124102 en 900000000000550004 Decrease in isoleucine content of the diet compared to the assessed baseline intake of isoleucine for the individual. 900000000000017005 +3651127018 20180731 1 900000000000207008 437361000124105 en 900000000000550004 Decrease in magnesium content of the diet compared to the assessed baseline intake of magnesium for the individual. 900000000000017005 +3651128011 20180731 1 900000000000207008 438241000124103 en 900000000000550004 Decrease in thiamin content of the diet compared to the assessed baseline intake of thiamin for the individual. 900000000000017005 +3651128011 20190731 0 900000000000207008 438241000124103 en 900000000000550004 Decrease in thiamin content of the diet compared to the assessed baseline intake of thiamin for the individual. 900000000000017005 +3651129015 20180731 1 900000000000207008 437811000124104 en 900000000000550004 Decrease in threonine content of the diet compared to the assessed baseline intake of threonine for the individual. 900000000000017005 +3651177015 20180731 1 900000000000207008 436961000124107 en 900000000000550004 Decrease in trans fat content of the diet compared to the assessed baseline intake of trans fat for the individual. 900000000000017005 +3651178013 20180731 1 900000000000207008 438261000124104 en 900000000000550004 Decrease in vitamin A content of the diet compared to the assessed baseline intake of vitamin A for the individual. 900000000000017005 +3651179017 20180731 1 900000000000207008 438321000124103 en 900000000000550004 Decrease in vitamin C content of the diet compared to the assessed baseline intake of vitamin C for the individual. 900000000000017005 +3651180019 20180731 1 900000000000207008 438341000124105 en 900000000000550004 Decrease in vitamin D content of the diet compared to the assessed baseline intake of vitamin D for the individual. 900000000000017005 +3651214014 20180731 1 900000000000207008 437441000124103 en 900000000000550004 Decrease in zinc content of the diet compared to the assessed baseline intake of zinc for the individual. 900000000000017005 +3651215010 20180731 1 900000000000207008 435591000124104 en 900000000000550004 Foods or nutrients intended to provide additional nutrients based on inadequate or suboptimal food or nutrient intake, deficiency or medical diagnosis to meet physiological requirements. 900000000000017005 +3651216011 20180731 1 900000000000207008 437261000124100 en 900000000000550004 Increase in calcium content of the diet compared to the assessed baseline intake of calcium for the individual. 900000000000017005 +3651217019 20180731 1 900000000000207008 437281000124105 en 900000000000550004 Increase in chromium content of the diet compared to the assessed baseline intake of chromium for the individual. 900000000000017005 +3651508015 20180731 1 900000000000207008 764455002 en 900000000000550004 Syndrome with characteristics of multiple congenital abnormalities, intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face, thick hair, synophrys, wide-set, bulging eyes with long eyelashes, a short nose and down-turned corners of the mouth. Patent ductus arteriosus is present in most cases. Obstructive sleep apnoea is a common feature. Cases are usually shorter than more than 97 percent of their peers and are overweight for their height. Other features include microcephaly, hearing loss, cataract, single horseshoe-shaped kidney and cryptorchidism. Caused by mutations in the AFF4 gene thought to result in excessive AFF4 protein, which interferes with normal pauses in transcription. 900000000000017005 +3651509011 20180731 1 900000000000207008 764455002 en 900000000000550004 Syndrome with characteristics of multiple congenital abnormalities, intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face, thick hair, synophrys, wide-set, bulging eyes with long eyelashes, a short nose and down-turned corners of the mouth. Patent ductus arteriosus is present in most cases. Obstructive sleep apnea is a common feature. Cases are usually shorter than more than 97 percent of their peers and are overweight for their height. Other features include microcephaly, hearing loss, cataract, single horseshoe-shaped kidney and cryptorchidism. Caused by mutations in the AFF4 gene thought to result in excessive AFF4 protein, which interferes with normal pauses in transcription. 900000000000017005 +3651510018 20180731 1 900000000000207008 437641000124101 en 900000000000550004 Decrease dietary gluten found in wheat, rye, oats, barley and their derivatives. Treatment for celiac disease, dermatitis herpetiformis and gluten sensitivity. 900000000000017005 +3651511019 20180731 1 900000000000207008 437641000124101 en 900000000000550004 Decrease dietary gluten found in wheat, rye, oats, barley and their derivatives. Treatment for coeliac disease, dermatitis herpetiformis and gluten sensitivity. 900000000000017005 +3651512014 20180731 1 900000000000207008 437651000124104 en 900000000000550004 Eliminate dietary gluten found in wheat, rye, oats, barley and their derivatives. Treatment for coeliac disease, dermatitis herpetiformis and gluten sensitivity. 900000000000017005 +3651513016 20180731 1 900000000000207008 437651000124104 en 900000000000550004 Eliminate dietary gluten found in wheat, rye, oats, barley and their derivatives. Treatment for celiac disease, dermatitis herpetiformis and gluten sensitivity. 900000000000017005 +3651516012 20180731 1 900000000000207008 435751000124101 en 900000000000550004 Foods and liquids consistent with the clear liquid diet with the addition of milk and small amounts of fibre.. 900000000000017005 +3651516012 20210930 0 900000000000207008 435751000124101 en 900000000000550004 Foods and liquids consistent with the clear liquid diet with the addition of milk and small amounts of fibre.. 900000000000017005 +3651517015 20180731 1 900000000000207008 435751000124101 en 900000000000550004 Foods and liquids consistent with the clear liquid diet with the addition of milk and small amounts of fiber. 900000000000017005 +3651518013 20180731 1 900000000000207008 436721000124103 en 900000000000550004 Increase in energy content of the diet compared to the assessed baseline intake of calories for the individual. 900000000000017005 +3651519017 20180731 1 900000000000207008 438151000124109 en 900000000000550004 Increase in folic acid content of the diet compared to the assessed baseline intake of folic acid for the individual. 900000000000017005 +3651520011 20180731 1 900000000000207008 437721000124100 en 900000000000550004 Increase in isoleucine content of the diet compared to the assessed baseline intake of isoleucine for the individual. 900000000000017005 +3651521010 20180731 1 900000000000207008 437741000124107 en 900000000000550004 Increase in leucine content of the diet compared to the assessed baseline intake of leucine for the individual. 900000000000017005 +3651522015 20180731 1 900000000000207008 437351000124108 en 900000000000550004 Increase in magnesium content of the diet compared to the assessed baseline intake of magnesium for the individual. 900000000000017005 +3651523013 20180731 1 900000000000207008 438171000124104 en 900000000000550004 Increase in niacin content of the diet compared to the assessed baseline intake of niacin for the individual. 900000000000017005 +3651524019 20180731 1 900000000000207008 438231000124108 en 900000000000550004 Increase in thiamin content of the diet compared to the assessed baseline intake of thiamin for the individual. 900000000000017005 +3651524019 20190731 0 900000000000207008 438231000124108 en 900000000000550004 Increase in thiamin content of the diet compared to the assessed baseline intake of thiamin for the individual. 900000000000017005 +3651525018 20180731 1 900000000000207008 437801000124102 en 900000000000550004 Increase in threonine content of the diet compared to the assessed baseline intake of threonine for the individual. 900000000000017005 +3651526017 20180731 1 900000000000207008 437821000124107 en 900000000000550004 Increase in tryptophan content of the diet compared to the assessed baseline intake of tryptophan for the individual. 900000000000017005 +3651527014 20180731 1 900000000000207008 438251000124101 en 900000000000550004 Increase in vitamin A content of the diet compared to the assessed baseline intake of vitamin A for the individual. 900000000000017005 +3651528016 20180731 1 900000000000207008 438331000124100 en 900000000000550004 Increase in vitamin D content of the diet compared to the assessed baseline intake of vitamin D for the individual. 900000000000017005 +3651529012 20180731 1 900000000000207008 437431000124108 en 900000000000550004 Increase in zinc content of the diet compared to the assessed baseline intake of zinc for the individual. 900000000000017005 +3651530019 20180731 1 900000000000207008 437081000124103 en 900000000000550004 Increase or decrease in boron content of the diet. 900000000000017005 +3651531015 20180731 1 900000000000207008 437091000124100 en 900000000000550004 Increase or decrease in calcium content of the diet. 900000000000017005 +3651532010 20180731 1 900000000000207008 435581000124102 en 900000000000550004 Increase or decrease in carbohydrate content of the diet. 900000000000017005 +3651533017 20180731 1 900000000000207008 437101000124106 en 900000000000550004 Increase or decrease in chloride content of the diet. 900000000000017005 +3651534011 20180731 1 900000000000207008 435761000124104 en 900000000000550004 Increase or decrease in fluid content of the diet. 900000000000017005 +3651535012 20180731 1 900000000000207008 437541000124102 en 900000000000550004 Increase or decrease in leucine content of the diet. 900000000000017005 +3651536013 20180731 1 900000000000207008 437551000124100 en 900000000000550004 Increase or decrease in lysine content of the diet. 900000000000017005 +3651537016 20180731 1 900000000000207008 437171000124100 en 900000000000550004 Increase or decrease in magnesium content of the diet. 900000000000017005 +3651538014 20180731 1 900000000000207008 437181000124102 en 900000000000550004 Increase or decrease in manganese content of the diet. 900000000000017005 +3651539018 20180731 1 900000000000207008 437561000124103 en 900000000000550004 Increase or decrease in methionine content of the diet. 900000000000017005 +3651540016 20180731 1 900000000000207008 437191000124104 en 900000000000550004 Increase or decrease in molybdenum content of the diet. 900000000000017005 +3651541017 20180731 1 900000000000207008 436871000124106 en 900000000000550004 Increase or decrease in monounsaturated fat content of the diet. 900000000000017005 +3651541017 20210731 0 900000000000207008 436871000124106 en 900000000000550004 Increase or decrease in monounsaturated fat content of the diet. 900000000000017005 +3651542012 20180731 1 900000000000207008 436881000124109 en 900000000000550004 Increase or decrease in polyunsaturated fat content of the diet. 900000000000017005 +3651543019 20180731 1 900000000000207008 436891000124107 en 900000000000550004 Increase or decrease in saturated fat content of the diet. 900000000000017005 +3651543019 20210731 0 900000000000207008 436891000124107 en 900000000000550004 Increase or decrease in saturated fat content of the diet. 900000000000017005 +3651544013 20180731 1 900000000000207008 438051000124105 en 900000000000550004 Increase or decrease in thiamin content of the diet. Treatment for prevention of beriberi. 900000000000017005 +3651544013 20190731 0 900000000000207008 438051000124105 en 900000000000550004 Increase or decrease in thiamin content of the diet. Treatment for prevention of beriberi. 900000000000017005 +3651545014 20180731 1 900000000000207008 436901000124106 en 900000000000550004 Increase or decrease in trans fat content of the diet. 900000000000017005 +3651545014 20210731 0 900000000000207008 436901000124106 en 900000000000550004 Increase or decrease in trans fat content of the diet. 900000000000017005 +3651546010 20180731 1 900000000000207008 438061000124107 en 900000000000550004 Increase or decrease in vitamin A content of the diet. Treatment for vision health and immune function. 900000000000017005 +3651547018 20180731 1 900000000000207008 438081000124102 en 900000000000550004 Increase or decrease in vitamin B12 content of the diet. Treatment for prevention of megaloblastic anemia. 900000000000017005 +3651548011 20180731 1 900000000000207008 438081000124102 en 900000000000550004 Increase or decrease in vitamin B12 content of the diet. Treatment for prevention of megaloblastic anaemia. 900000000000017005 +3651549015 20180731 1 900000000000207008 438071000124100 en 900000000000550004 Increase or decrease in vitamin B6 content of the diet. 900000000000017005 +3651550015 20180731 1 900000000000207008 438101000124105 en 900000000000550004 Increase or decrease in vitamin D content of the diet. Treatment for prevention of osteoporosis. 900000000000017005 +3651551016 20180731 1 900000000000207008 438091000124104 en 900000000000550004 Increase or decrease in vitamin C content of the diet. Treatment for prevention of scurvy. 900000000000017005 +3651551016 20210731 0 900000000000207008 438091000124104 en 900000000000550004 Increase or decrease in vitamin C content of the diet. Treatment for prevention of scurvy. 900000000000017005 +3651552011 20180731 1 900000000000207008 438121000124100 en 900000000000550004 Increase or decrease in vitamin K content of the diet. Treatment for some coagulopathies. 900000000000017005 +3651553018 20180731 1 900000000000207008 438111000124108 en 900000000000550004 Increase or decrease in vitamin E content of the diet. 900000000000017005 +3651554012 20180731 1 900000000000207008 437451000124101 en 900000000000550004 Provides foods of known protein content to meet the need of the individual in consistent amounts and/or consistent times. 900000000000017005 +3651555013 20180731 1 900000000000207008 439161000124100 en 900000000000550004 Providing a prepared beverage to supplement energy or nutrient intake. 900000000000017005 +3651556014 20180731 1 900000000000207008 438851000124102 en 900000000000550004 Providing chloride based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651557017 20180731 1 900000000000207008 438861000124100 en 900000000000550004 Providing chromium based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651558010 20180731 1 900000000000207008 438871000124107 en 900000000000550004 Providing cobalt based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651559019 20180731 1 900000000000207008 439141000124104 en 900000000000550004 Providing commercial (prepackaged) beverage to supplement energy or nutrient intake. 900000000000017005 +3651560012 20180731 1 900000000000207008 439151000124102 en 900000000000550004 Providing commercial (prepackaged) food to supplement energy or nutrient intake. 900000000000017005 +3651561011 20180731 1 900000000000207008 438931000124104 en 900000000000550004 Providing manganese based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651562016 20180731 1 900000000000207008 438941000124109 en 900000000000550004 Providing molybdenum based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651563014 20180731 1 900000000000207008 438951000124106 en 900000000000550004 Providing phosphorus based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651564015 20180731 1 900000000000207008 438961000124108 en 900000000000550004 Providing potassium based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651565019 20180731 1 900000000000207008 438991000124100 en 900000000000550004 Providing sulfur for suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651566018 20180731 1 900000000000207008 438991000124100 en 900000000000550004 Providing sulphur for suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651571013 20180731 1 900000000000207008 438761000124105 en 900000000000550004 Providing vitamin A based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651572018 20180731 1 900000000000207008 438771000124103 en 900000000000550004 Providing vitamin B12 based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651573011 20180731 1 900000000000207008 438781000124100 en 900000000000550004 Providing vitamin B6 based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651574017 20180731 1 900000000000207008 435601000124107 en 900000000000550004 Providing vitamins and minerals based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651575016 20180731 1 900000000000207008 439001000124100 en 900000000000550004 Providing zinc for suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651576015 20180731 1 900000000000207008 438791000124102 en 900000000000550004 Providing vitamin C based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651577012 20180731 1 900000000000207008 438801000124101 en 900000000000550004 Providing vitamin D based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651578019 20180731 1 900000000000207008 438811000124103 en 900000000000550004 Providing vitamin E based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651579010 20180731 1 900000000000207008 438821000124106 en 900000000000550004 Providing vitamin K based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651581012 20180731 1 900000000000207008 435631000124104 en 900000000000550004 Providing one or more vitamins based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3651582017 20180731 1 900000000000207008 437251000124102 en 900000000000550004 Increase or decrease in zinc content of the diet. 900000000000017005 +3654096019 20180731 1 900000000000207008 764619001 en 900000000000550004 A rare chromosomal anomaly syndrome with principle characteristics of intrauterine growth restriction, congenital cardiac anomalies (ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (hypoplastic cerebellum, ventricular asymmetry), renal (small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported. 900000000000017005 +3654226017 20180731 1 900000000000207008 764621006 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype. Manifestations range from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (ventricular septal defect) and genital (hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay. 900000000000017005 +3654231015 20180731 1 900000000000207008 764622004 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable clinical presentation. The disorder has characteristics of growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported. 900000000000017005 +3654236013 20180731 1 900000000000207008 764623009 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported. 900000000000017005 +3654241017 20180731 1 900000000000207008 764624003 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype. Principle characteristics are spinal abnormalities (stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (horseshoe kidneys) have also been reported. 900000000000017005 +3654241017 20200131 0 900000000000207008 764624003 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype. Principle characteristics are spinal abnormalities (stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (horseshoe kidneys) have also been reported. 900000000000017005 +3654246010 20180731 1 900000000000207008 764625002 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (cubitus valgus, syn/brachydactyly), renal and genital anomalies have also been reported. 900000000000017005 +3654247018 20180731 1 900000000000207008 764697003 en 900000000000550004 A multiple congenital anomalies/dysmorphic syndrome with characteristics of multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligo/polysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. 900000000000017005 +3654259019 20180731 1 900000000000207008 764627005 en 900000000000550004 A rare chromosomal anomaly syndrome with high phenotypic variability. Manifestations range from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (pectus excavatum, scoliosis), ocular (coloboma) and cardiac abnormalities. 900000000000017005 +3654264015 20180731 1 900000000000207008 764628000 en 900000000000550004 A rare autosomal anomaly due to the presence of an extra copy of chromosome 4 in a fraction of all cells with a variable phenotype. Typical characteristics are intrauterine growth retardation, low birth weight/length/head circumference, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posterior rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. 900000000000017005 +3654269013 20180731 1 900000000000207008 764629008 en 900000000000550004 A rare chromosomal anomaly syndrome with a variable phenotype. Manifestations range from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (hypertelorism, prominent nasal bridge) and other congenital anomalies (including eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated. 900000000000017005 +3654274017 20180731 1 900000000000207008 764630003 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype. Manifestations include Blaschko linear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears and micrognathia) and genital anomalies (undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported. 900000000000017005 +3654567011 20180731 1 900000000000207008 764688002 en 900000000000550004 A rare form of hereditary spastic paraplegia with characteristics of childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. 900000000000017005 +3654653011 20180731 1 900000000000207008 764696007 en 900000000000550004 A rare partial monosomy of the short arm of chromosome 17 with a variable phenotype. The disease has characteristics of prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphism including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia but not lissencephaly. 900000000000017005 +3654654017 20180731 1 900000000000207008 764703002 en 900000000000550004 A rare chromosomal anomaly syndrome, resulting from a partial interstitial micro duplication of the short arm of chromosome 7. The disease has characteristics of intellectual disability, psychomotor and speech delay, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. 900000000000017005 +3654655016 20180731 1 900000000000207008 764725008 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial interstitial deletion of the short arm of chromosome 9. The disease has characteristics of mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). 900000000000017005 +3654657012 20180731 1 900000000000207008 764737005 en 900000000000550004 A rare cancer of corpus uteri composed of squamous cells of varying degree of differentiation that usually affects postmenopausal women and presents with abnormal vaginal discharge, dysfunctional bleeding, abdominal pain and distension. It is often associated with cervical stenosis and pyometra. 900000000000017005 +3654662013 20180731 1 900000000000207008 416069001 en 900000000000550004 Insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease. 900000000000017005 +3654684013 20180731 1 900000000000207008 764690001 en 900000000000550004 An extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21. The disease is characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Hematological malignancies are also associated and may occur earlier than in trisomy 21. 900000000000017005 +3654685014 20180731 1 900000000000207008 764690001 en 900000000000550004 An extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21. The disease is characterised by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21. 900000000000017005 +3654711018 20180731 1 900000000000207008 764694005 en 900000000000550004 A rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. 900000000000017005 +3654712013 20180731 1 900000000000207008 764694005 en 900000000000550004 A rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harbouring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include haematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anaemia, fatigue and fever. 900000000000017005 +3654715010 20180731 1 900000000000207008 764736001 en 900000000000550004 A rare complex hereditary spastic paraplegia with childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery) have also been reported. 900000000000017005 +3654750019 20180731 1 900000000000207008 764810000 en 900000000000550004 A rare genetic multiple congenital anomalies syndrome with characteristics of second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). 900000000000017005 +3654823018 20180731 1 900000000000207008 764723001 en 900000000000550004 A route that begins on the surface of a localized lesion. 900000000000017005 +3654860019 20180731 1 900000000000207008 764812008 en 900000000000550004 A rare inherited neuromuscular disease with prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning. This results in joint abnormalities that may involve both lower and upper extremities and is usually symmetric. Also associated with severe hypotonia at birth, bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement and progressive disease course with loss of ambulation after the first decade of life. 900000000000017005 +3654868014 20180731 1 900000000000207008 764686003 en 900000000000550004 A complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. 900000000000017005 +3654890014 20180731 1 900000000000207008 764711007 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome X, characterised by global developmental delay, autistic behaviour, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. 900000000000017005 +3654891013 20180731 1 900000000000207008 764711007 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. 900000000000017005 +3654898019 20180731 1 900000000000207008 764732004 en 900000000000550004 A rare genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behavior, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. 900000000000017005 +3654899010 20180731 1 900000000000207008 764732004 en 900000000000550004 A rare genetic congenital anomalies/dysmorphic syndrome characterised by growth failure, global developmental delay, profound intellectual disability, autistic behaviour, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. 900000000000017005 +3654907019 20180731 1 900000000000207008 764733009 en 900000000000550004 A rare mitochondrial oxidative phosphorylation disorder due to nuclear deoxyribonucleic acid anomalies. The disease is characterised by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalised muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. 900000000000017005 +3654908012 20180731 1 900000000000207008 764733009 en 900000000000550004 A rare mitochondrial oxidative phosphorylation disorder due to nuclear deoxyribonucleic acid anomalies. The disease is characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. 900000000000017005 +3654915016 20180731 1 900000000000207008 764735002 en 900000000000550004 An extremely rare malignant epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases. 900000000000017005 +3654916015 20180731 1 900000000000207008 764735002 en 900000000000550004 An extremely rare malignant epithelial tumour of the small intestine (most often localised in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localisation of the tumour. Gastrointestinal bleeding and perforation may occur in advanced cases. 900000000000017005 +3654949012 20180731 1 900000000000207008 764739008 en 900000000000550004 A chromosomal condition occurring when a piece of the long (q) arm of chromosome 18 is missing near the centre of the chromosome. The disease has a wide range of characteristics including developmental delay, intellectual disability, delayed expressive language skills, recurrent seizures and hypotonia. Macrocephaly may also be associated along with characteristic facial features including prominent forehead, ptosis, downslanting palpebral fissures, puffy periorbital tissue, and full cheeks. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a parent. 900000000000017005 +3654950012 20180731 1 900000000000207008 764739008 en 900000000000550004 A chromosomal condition occurring when a piece of the long (q) arm of chromosome 18 is missing near the center of the chromosome. The disease has a wide range of characteristics including developmental delay, intellectual disability, delayed expressive language skills, recurrent seizures and hypotonia. Macrocephaly may also be associated along with characteristic facial features including prominent forehead, ptosis, downslanting palpebral fissures, puffy periorbital tissue, and full cheeks. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a parent. 900000000000017005 +3655152014 20180731 1 900000000000207008 764730007 en 900000000000550004 A rare form of axonal peripheral sensorimotor neuropathy with characteristics of classical Charcot-Marie-Tooth type 2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. 900000000000017005 +3655153016 20180731 1 900000000000207008 764850002 en 900000000000550004 A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 with the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. 900000000000017005 +3655154010 20180731 1 900000000000207008 764854006 en 900000000000550004 A hereditary demyelinating motor and sensory neuropathy with characteristics of slowed nerve conduction velocities in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene. 900000000000017005 +3655161014 20180731 1 900000000000207008 764734003 en 900000000000550004 A complex type of hereditary spastic paraplegia with onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (oromandibular dyskinesia, rigidity) and cerebellar (dysdiadochokinesia and incoordination) signs. Subtle abnormalities (for example developmental delay) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. 900000000000017005 +3655172016 20180731 1 900000000000207008 764791008 en 900000000000550004 An uncommon epithelial ovarian neoplasm, distinguished from ovarian carcinomas by the absence of destructive stromal invasion, generally characterized by indolent behavior and excellent prognosis. Most patients are asymptomatic at the time of diagnosis, and the symptoms, if present, are often nonspecific and vague, such as pelvic pain, abdominal mass or, rarely, gastrointestinal problems including early satiety or bloating. Six histological subtypes are currently recognized, based on the epithelial cell type. 900000000000017005 +3655173014 20180731 1 900000000000207008 764791008 en 900000000000550004 An uncommon epithelial ovarian neoplasm, distinguished from ovarian carcinomas by the absence of destructive stromal invasion, generally characterised by indolent behaviour and excellent prognosis. Most patients are asymptomatic at the time of diagnosis, and the symptoms, if present, are often nonspecific and vague, such as pelvic pain, abdominal mass or, rarely, gastrointestinal problems including early satiety or bloating. Six histological subtypes are currently recognised, based on the epithelial cell type. 900000000000017005 +3655184019 20180731 1 900000000000207008 764811001 en 900000000000550004 A rare parasitic disease characterised by the infestation of natural body cavities with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), haemorrhage, pain, oedema, sensory loss, malodour, and pruritus, among others. Neurological features (motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis. 900000000000017005 +3655185018 20180731 1 900000000000207008 764811001 en 900000000000550004 A rare parasitic disease characterized by the infestation of natural body cavities with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis. 900000000000017005 +3655204013 20180731 1 900000000000207008 764816006 en 900000000000550004 On assessment the patient is determined to be physically prepared to undergo surgery. 900000000000017005 +3655209015 20180731 1 900000000000207008 764815005 en 900000000000550004 On assessment the patient is determined to be psychologically prepared to undergo surgery. 900000000000017005 +3655262010 20180731 1 900000000000207008 764840003 en 900000000000550004 Technique for the combined evaluation of myocardial perfusion and left ventricular function within a single procedure. 900000000000017005 +3655282014 20180731 1 900000000000207008 764845008 en 900000000000550004 A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread. 900000000000017005 +3655283016 20180731 1 900000000000207008 764845008 en 900000000000550004 A very rare tumour of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defaecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread. 900000000000017005 +3655287015 20180731 1 900000000000207008 764846009 en 900000000000550004 An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelial cells floating in lakes of extracellular, PAS-positive mucin, with clinical characteristics of a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor. 900000000000017005 +3655293011 20180731 1 900000000000207008 764847000 en 900000000000550004 A rare subtype of malignant mixed epithelial and mesenchymal neoplasm composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The neoplasm may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps. 900000000000017005 +3655297012 20180731 1 900000000000207008 764849002 en 900000000000550004 A rare primary cutaneous amyloidosis characterised by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalised morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. 900000000000017005 +3655298019 20180731 1 900000000000207008 764849002 en 900000000000550004 A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. 900000000000017005 +3655320018 20180731 1 900000000000207008 764855007 en 900000000000550004 A subtype of acute myeloid leukaemia with recurrent genetic abnormalities, characterised by clonal proliferation of myeloid blasts harbouring somatic mutations of the CEBPA gene in the bone marrow, blood and rarely other tissues. It can present with anaemia, thrombocytopenia, and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). 900000000000017005 +3655321019 20180731 1 900000000000207008 764855007 en 900000000000550004 A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and rarely other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). 900000000000017005 +3655327015 20180731 1 900000000000207008 764856008 en 900000000000550004 A rare subtype of renal cell carcinoma, occurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter or intracellular micro lumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. 900000000000017005 +3655328013 20180731 1 900000000000207008 764856008 en 900000000000550004 A rare subtype of renal cell carcinoma, occurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterised by a usually well circumscribed, solid, multifocal, bilateral tumour with inter or intracellular micro lumen formation (leading to cribiform architecture). Tumours are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behaviour. 900000000000017005 +3655359010 20180731 1 900000000000207008 764857004 en 900000000000550004 A rare genetic dysostosis syndrome with marked inter and intra-familial variation with typical characteristics of triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. 900000000000017005 +3655378010 20180731 1 900000000000207008 764858009 en 900000000000550004 The non-syndromic form of a primary immunodeficiency disease characterised by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. Two forms have been described: X-linked represents approximately 85% of the affected patients, and autosomal which includes recessive and dominant cases but is far less frequent. The clinical signs of the two forms are very similar and include recurrent bacterial infections, diarrhoea and skin infections with onset in infancy. Defects in B lymphocyte development and maturation appear to underlie agammaglobulinaemia. Mutations in seven genes have been reported to be related to IA: BTK (Xq21.33-q22), BLNK (10q23.2-q23.33), CD79A (19q13.2), CD79B (17q23), IGHM(14q32.33), IGLL1 (22q11.23), PIK3R1 (5q13.1) and TCF3 (19p13.3). 900000000000017005 +3655379019 20180731 1 900000000000207008 764858009 en 900000000000550004 The non-syndromic form of a primary immunodeficiency disease characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. Two forms have been described: X-linked represents approximately 85% of the affected patients, and autosomal which includes recessive and dominant cases but is far less frequent. The clinical signs of the two forms are very similar and include recurrent bacterial infections, diarrhea and skin infections with onset in infancy. Defects in B lymphocyte development and maturation appear to underlie agammaglobulinemia. Mutations in seven genes have been reported to be related to IA: BTK (Xq21.33-q22), BLNK (10q23.2-q23.33), CD79A (19q13.2), CD79B (17q23), IGHM(14q32.33), IGLL1 (22q11.23), PIK3R1 (5q13.1) and TCF3 (19p13.3). 900000000000017005 +3655420017 20180731 1 900000000000207008 764859001 en 900000000000550004 Disease with characteristics of early-onset selective weakness of the great toe and ankle dorsiflexors and a very slowly progressive course. Age at onset varies from 4 to 5 years to the early twenties. Early weakness of neck flexion is present in all patients. Mild involvement of the facial musculature (particularly of the orbicularis oculi and oris muscles) is often present. Mild proximal weakness develops more than ten years after the onset of the disease. Caused by mutation of the MYH7 gene (14q11) and transmitted as an autosomal dominant trait. 900000000000017005 +3655421018 20180731 1 900000000000207008 416069001 en 900000000000550004 Insidious, chronic and recurrent disorder, characterised by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease. 900000000000017005 +3655430014 20180731 1 900000000000207008 764860006 en 900000000000550004 A rare disorder with characteristics of neurological problems and neutropenia. Onset of symptoms is in early childhood and severity varies widely among affected individuals. In the most severely affected individuals, features are apparent in infancy and sometimes at birth. Associated with congenital cataracts or cataracts in infancy. The disease is caused by mutations in the CLPB gene which is likely to reduce or eliminate the amount of functional CLPB protein. The severity of the disease may be related to the amount of functional protein that remains. Inherited in an autosomal recessive pattern. 900000000000017005 +3655438019 20180731 1 900000000000207008 764861005 en 900000000000550004 A rare condition with characteristics of intellectual disability, delayed development of speech and motor skills, hypotonia from birth, lethargy, weak cry, facial weakness, feeding difficulties, failure to thrive. Dysphagia often lasts into adolescence. While muscle tone may improve over time, affected individuals usually have some weakness into adulthood. The weakness can lead to permanent contractures and scoliosis. Also associated with unusual facial features, cleft palate, long neck, narrow chest, tapered fingers. Caused by mutations in the KCNK9 gene, which alter TASK3 channels reducing the flow of ions through the channels and disrupting normal neuron development and excitability. Follows an autosomal dominant pattern of inheritance. About 20 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family. 900000000000017005 +3655677014 20180731 1 900000000000207008 764938007 en 900000000000550004 A rare malignant epithelial neoplasm composed of undifferentiated epithelial cells with dense lymphoid stroma mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ. 900000000000017005 +3655678016 20180731 1 900000000000207008 764955006 en 900000000000550004 A rare non-syndromic congenital heart malformation with characteristics of the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations and chest pain and exercise intolerance. 900000000000017005 +3655679012 20180731 1 900000000000207008 764956007 en 900000000000550004 A rare primary bone dysplasia with characteristics of a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. 900000000000017005 +3655680010 20180731 1 900000000000207008 764957003 en 900000000000550004 A rare genetic non-dystrophic myopathy with characteristics of the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and myopathic facies (with or without creatine kinase elevations), skeletal abnormalities (short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. 900000000000017005 +3655683012 20180731 1 900000000000207008 764939004 en 900000000000550004 A rare genetic retinal dystrophy with characteristics of the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age. 900000000000017005 +3655689011 20180731 1 900000000000207008 764940002 en 900000000000550004 A rare malignant hematologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis) and genetic defects predisposing to acute myeloid leukemia. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present. 900000000000017005 +3655690019 20180731 1 900000000000207008 764940002 en 900000000000550004 A rare malignant haematologic disease characterised by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis) and genetic defects predisposing to acute myeloid leukaemia. Patients present with signs and symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present. 900000000000017005 +3655697016 20180731 1 900000000000207008 764942005 en 900000000000550004 A rare genetic developmental defect during embryogenesis with characteristics of a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. 900000000000017005 +3655700017 20180731 1 900000000000207008 764943000 en 900000000000550004 A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined. 900000000000017005 +3655701018 20180731 1 900000000000207008 764943000 en 900000000000550004 A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterised by severe intrauterine growth retardation, neonatal limb oedema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined. 900000000000017005 +3655705010 20180731 1 900000000000207008 764944006 en 900000000000550004 A rare genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation. 900000000000017005 +3655706011 20180731 1 900000000000207008 764944006 en 900000000000550004 A rare genetic neuromuscular disorder characterised by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalised muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation. 900000000000017005 +3655710014 20180731 1 900000000000207008 764945007 en 900000000000550004 A rare genetic skeletal muscle disease with characteristics of neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients. 900000000000017005 +3655728011 20180731 1 900000000000207008 764950001 en 900000000000550004 A rare multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970. 900000000000017005 +3655737011 20180731 1 900000000000207008 764951002 en 900000000000550004 A rare malignant, mixed epithelial and mesenchymal tumour, located in the cervix uteri, composed of a mixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with human papillomavirus infection (especially serotype 16) has been frequently reported. 900000000000017005 +3655738018 20180731 1 900000000000207008 764951002 en 900000000000550004 A rare malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of a mixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, gray to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with human papillomavirus infection (especially serotype 16) has been frequently reported. 900000000000017005 +3655741010 20180731 1 900000000000207008 764952009 en 900000000000550004 A rare malignant mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported. 900000000000017005 +3655742015 20180731 1 900000000000207008 764952009 en 900000000000550004 A rare malignant mixed epithelial and mesenchymal tumour of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumour sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed oestrogen use and previous pelvic radiotherapy has been reported. 900000000000017005 +3655774010 20180731 1 900000000000207008 764958008 en 900000000000550004 An isolated focal, hereditary palmoplantar keratoderma with characteristics of linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopathologically widened intercellular spaces between keratinocytes are observed. 900000000000017005 +3655778013 20180731 1 900000000000207008 764959000 en 900000000000550004 A rare congenital myopathy syndrome characterised by nonprogressive myopathy (manifesting with mild facial and generalised weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. 900000000000017005 +3655779017 20180731 1 900000000000207008 764959000 en 900000000000550004 A rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. 900000000000017005 +3655783017 20180731 1 900000000000207008 764960005 en 900000000000550004 A rare genetic chronic primary adrenal insufficiency disorder due to partial loss-of-function CYP11A1 mutations. The disease has characteristics of early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolyte abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. 900000000000017005 +3655795017 20180731 1 900000000000207008 764962002 en 900000000000550004 A rare inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis. The disease has characteristics of intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. 900000000000017005 +3655796016 20180731 1 900000000000207008 764989007 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are intellectual disability, growth and developmental delay, facial dysmorphism (including microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (ventricular septal defect), as well as urogenital (hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed. 900000000000017005 +3655797013 20180731 1 900000000000207008 764992006 en 900000000000550004 A rare myofibrillar myopathy with characteristics of slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo or areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases. 900000000000017005 +3655799011 20180731 1 900000000000207008 764993001 en 900000000000550004 Rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms such as fever, nausea, vomiting, fatigue prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (pneumonia, bronchiolitis, pharyngitis). 900000000000017005 +3655801014 20180731 1 900000000000207008 764999002 en 900000000000550004 A rare neuroendocrine neoplasm arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilii, organ of Zuckerkandl, thoracic paraspinal region, bladder and carotid body) not associated with catecholamine secretion. These neoplasms are usually clinically silent and symptoms if present are nonspecific and depend on the location of the neoplasm. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome may be observed. 900000000000017005 +3655812014 20180731 1 900000000000207008 764963007 en 900000000000550004 A very rare form of focal palmoplantar keratoderma with characteristics of painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial and lingual attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement. 900000000000017005 +3655829012 20180731 1 900000000000207008 764965000 en 900000000000550004 A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. 900000000000017005 +3655830019 20180731 1 900000000000207008 764965000 en 900000000000550004 A rare genetic vascular disease characterised by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnoea, cough, jaw, neck, chest or back pain, head, neck or upper limb oedema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. 900000000000017005 +3655854012 20180731 1 900000000000207008 764969006 en 900000000000550004 Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness. 900000000000017005 +3655972017 20180731 1 900000000000207008 764990003 en 900000000000550004 A rare subtype of renal cell carcinoma characterised histologically by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and macroscopically by a solid, generally well-circumscribed, partially encapsulated tumour of variable size, with a homogenously coloured, bulging cut surface. Occasionally containing areas of haemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, abdominal mass and/or haematuria, however most are asymptomatic and tumour is discovered incidentally. Indolent behaviour is frequent and association with nephrolithiasis and end-stage kidney disease had been noted. 900000000000017005 +3655973010 20180731 1 900000000000207008 764990003 en 900000000000550004 A rare subtype of renal cell carcinoma characterized histologically by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and macroscopically by a solid, generally well-circumscribed, partially encapsulated tumor of variable size, with a homogenously colored, bulging cut surface. Occasionally containing areas of hemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, abdominal mass and/or hematuria, however most are asymptomatic and tumor is discovered incidentally. Indolent behavior is frequent and association with nephrolithiasis and end-stage kidney disease had been noted. 900000000000017005 +3655986018 20180731 1 900000000000207008 764994007 en 900000000000550004 A rare congenital non-dystrophic mild slowly progressive proximal myopathy characterised by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organised hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. 900000000000017005 +3655987010 20180731 1 900000000000207008 764994007 en 900000000000550004 A rare congenital non-dystrophic mild slowly progressive proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. 900000000000017005 +3655992012 20180731 1 900000000000207008 764995008 en 900000000000550004 A rare genetic ectodermal dysplasia syndrome characterised by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with oesophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anaemia have also been observed. 900000000000017005 +3655993019 20180731 1 900000000000207008 764995008 en 900000000000550004 A rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have also been observed. 900000000000017005 +3656002014 20180731 1 900000000000207008 764996009 en 900000000000550004 A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. 900000000000017005 +3656003016 20180731 1 900000000000207008 764996009 en 900000000000550004 A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterised by increased polymorphonuclear leucocyte projections and persistence of fetal haemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. 900000000000017005 +3656008013 20180731 1 900000000000207008 764997000 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 9. The disease has a highly variable phenotype principally characterised by developmental delay, short stature, intellectual disability and craniofacial dysmorphism (microcephaly, broad forehead, low set ears, epicanthus, prominent nose and retrognathia). Cardiac, ocular, thyroid and oesophagus defects along with central nervous system and behavioural/psychiatric abnormalities have also been reported. 900000000000017005 +3656009017 20180731 1 900000000000207008 764997000 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 9. The disease has a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability and craniofacial dysmorphism (microcephaly, broad forehead, low set ears, epicanthus, prominent nose and retrognathia). Cardiac, ocular, thyroid and esophagus defects along with central nervous system and behavioral/psychiatric abnormalities have also been reported. 900000000000017005 +3656174014 20180731 1 900000000000207008 765045003 en 900000000000550004 A pure or complex form of hereditary spastic paraplegia with characteristics of onset in the first decade of life of spastic paraparesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia and flexion contractures of the knees in some. 900000000000017005 +3656175010 20180731 1 900000000000207008 765046002 en 900000000000550004 A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, pan modal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. 900000000000017005 +3656176011 20180731 1 900000000000207008 765047006 en 900000000000550004 A subtype of Charcot-Marie-Tooth disease type 4 with characteristics of childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions). 900000000000017005 +3656177019 20180731 1 900000000000207008 765089003 en 900000000000550004 A rare genetic neurological disorder with early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura. When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed. 900000000000017005 +3656180018 20180731 1 900000000000207008 765096001 en 900000000000550004 A type of isolated punctate hereditary palmoplantar keratoderma with characteristics of multiple asymptomatic 1 to 2 mm-long, firm, hyperkeratotic projections (spiny keratosis) on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically compact columnar parakeratosis over hypo or agranular epidermis is observed. 900000000000017005 +3656182014 20180731 1 900000000000207008 765100000 en 900000000000550004 A severe condition with onset in infancy of encephalomyopathy and in many cases renal tubulopathy. Manifestations include hypotonia, failure to thrive, microcephaly, and difficulty controlling head movement, delayed motor skills, serious breathing difficulties and can result in life-threatening respiratory failure. Most affected infants have lactic acidosis, which may also be life-threatening. Also associated are gastrointestinal dysmotility, seizures and sensorineural hearing loss. The disease is caused by mutations in the RRM2B gene which provides instructions for making one piece of the protein ribonucleotide reductase (RNR). RRM2B gene mutations reduce the activity or amount of RNR, which likely impairs production of mitochondrial DNA nucleotides. Inherited in an autosomal recessive pattern. 900000000000017005 +3656209014 20180731 1 900000000000207008 469796007 en 900000000000550004 An electrical conductor designed for measuring the electrical activity of and/or to provide pacing signals to the interior of the heart; some electrodes are used to provide electric (e.g., radio-frequency) energy to ablate cardiac tissue. It is usually a very small electrode capable of detecting weak bioelectrical signals and/or to provide high electrical energy; it is typically located at or near the tip of cardiac [e.g., electrophysiology (EP), pacing, ablation] catheters. 900000000000017005 +3656229010 20180731 1 900000000000207008 765057007 en 900000000000550004 An inherited disorder that increases the risk of a variety of malignant and benign tumors most commonly occurring in the skin, eyes, kidneys, chest, abdomen and mesothelium. Affected individuals can develop one or more types of neoplasm and affected members of the same family can have different types. Malignancies arise at a younger age, are often more aggressive and tend metastasize. The disease is caused by mutations in the BAP1 gene. In addition to a germline mutation in one copy of the gene, a second somatic mutation usually occurs in the normal copy of the gene in cells that give rise to neoplasms. Together, the germline and somatic mutations result in a complete loss of BAP1 protein function in tumor cells. Inherited in an autosomal dominant pattern, in most cases, an affected person has one parent with the condition. People with a mutation in the BAP1 gene inherit an increased risk of tumor formation however not all will develop a tumor. 900000000000017005 +3656230017 20180731 1 900000000000207008 765057007 en 900000000000550004 An inherited disorder that increases the risk of a variety of malignant and benign tumours most commonly occurring in the skin, eyes, kidneys, chest, abdomen and mesothelium. Affected individuals can develop one or more types of neoplasm and affected members of the same family can have different types. Malignancies arise at a younger age, are often more aggressive and tend metastasise. The disease is caused by mutations in the BAP1 gene. In addition to a germline mutation in one copy of the gene, a second somatic mutation usually occurs in the normal copy of the gene in cells that give rise to neoplasms. Together, the germline and somatic mutations result in a complete loss of BAP1 protein function in tumour cells. Inherited in an autosomal dominant pattern, in most cases, an affected person has one parent with the condition. People with a mutation in the BAP1 gene inherit an increased risk of tumour formation however not all will develop a tumour. 900000000000017005 +3656371013 20180731 1 900000000000207008 765090007 en 900000000000550004 A rare life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterised by vomiting, diarrhoea and central nervous system excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by central nervous system depression, coma and cerebral oedema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalaemia and hypocalcaemia and progressive renal failure leading to anuria. Myoglobinaemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours. 900000000000017005 +3656372018 20180731 1 900000000000207008 765090007 en 900000000000550004 A rare life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by central nervous system depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia and hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours. 900000000000017005 +3656375016 20180731 1 900000000000207008 765091006 en 900000000000550004 A rare genetic neurological disorder characterised by late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolaemia and borderline hypoalbuminaemia. 900000000000017005 +3656376015 20180731 1 900000000000207008 765091006 en 900000000000550004 A rare genetic neurological disorder characterized by late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. 900000000000017005 +3656379010 20180731 1 900000000000207008 765092004 en 900000000000550004 A rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non or slowly progressive), associated with spheroid body inclusions (composed of myofilament material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations. 900000000000017005 +3656380013 20180731 1 900000000000207008 765092004 en 900000000000550004 A rare form of myofibrillar myopathy characterised by predominantly proximal muscle weakness (that could be either non or slowly progressive), associated with spheroid body inclusions (composed of myofilament material within individual muscle fibres) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations. 900000000000017005 +3656384016 20180731 1 900000000000207008 765093009 en 900000000000550004 Rare genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed. 900000000000017005 +3656386019 20180731 1 900000000000207008 765093009 en 900000000000550004 Rare genetic epilepsy characterised by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalised childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed. 900000000000017005 +3656391018 20180731 1 900000000000207008 765095002 en 900000000000550004 A rare aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis. 900000000000017005 +3656392013 20180731 1 900000000000207008 765095002 en 900000000000550004 A rare aggressive subtype of renal cell carcinoma characterised by a large, white or tan, firm, infiltrative tumour with microabscess-like foci centred in the renal medulla, typically presenting with haematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis. 900000000000017005 +3657137015 20180731 1 900000000000207008 765135003 en 900000000000550004 A rare progressive dermis disorder with characteristics of thickening of the scalp resulting in redundancy of skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes or with secondary causes. 900000000000017005 +3657142011 20180731 1 900000000000207008 765136002 en 900000000000550004 A rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (central nervous system, lung, testes). Lymph nodes are often spared. 900000000000017005 +3657143018 20180731 1 900000000000207008 765136002 en 900000000000550004 A rare form of primary cutaneous T-cell lymphoma characterised by rapidly progressing localised or disseminated nodules, tumours or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (central nervous system, lung, testes). Lymph nodes are often spared. 900000000000017005 +3657147017 20180731 1 900000000000207008 765137006 en 900000000000550004 A rare inborn error of metabolism disease with characteristics of mild to moderate persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms or the disease may also be asymptomatic. 900000000000017005 +3657155012 20180731 1 900000000000207008 765138001 en 900000000000550004 A rare maternal disease-related embryofetopathy with characteristics of variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, encephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (for example bifid uvula, preauricular pit or tag). Consensus regarding cause and effect relationship has not been reached. 900000000000017005 +3657162015 20180731 1 900000000000207008 765140006 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 8 with a highly variable phenotype. Principle characteristics are mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (atrioventricular septal defect). Other reported features include macrocephaly, attention deficit disorder, seizures, hypotonia and ocular and digital anomalies (poly or syndactyly). 900000000000017005 +3657165018 20180731 1 900000000000207008 765141005 en 900000000000550004 A rare normolipemic non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjunctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthoma macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease. 900000000000017005 +3657166017 20180731 1 900000000000207008 765141005 en 900000000000550004 A rare normolipemic non-Langerhans cell histiocytosis characterised by progressive growth of multiple to disseminated asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumours up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjunctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthoma macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease. 900000000000017005 +3657170013 20180731 1 900000000000207008 765142003 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16. The disease has characteristics of developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. 900000000000017005 +3657174016 20180731 1 900000000000207008 765143008 en 900000000000550004 Isolated non-familial catecholamin-producing tumours arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumours are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumour, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. 900000000000017005 +3657175015 20180731 1 900000000000207008 765143008 en 900000000000550004 Isolated non-familial catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. 900000000000017005 +3657181011 20180731 1 900000000000207008 48983004 en 900000000000550004 A constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid. 900000000000017005 +3657182016 20180731 1 900000000000207008 48983004 en 900000000000550004 A constitutional microcytic, hypochromic anaemia of varying severity that is clinically characterised by manifestations of anaemia and iron overload and that may respond to treatment with pyridoxine and folic acid. 900000000000017005 +3657183014 20180731 1 900000000000207008 765054000 en 900000000000550004 A non-sterile electrical conductor designed to be applied to an adult patient for automatic or manual defibrillation, external pacing, cardioversion, and electrocardiographic monitoring through transmission of cardiac bioelectric signals (typically from the thoracic surface) to devices that record/process the signals and potentially return electrical impulses [e.g. electrocardiograph, electrocardiographic monitor(s), defibrillator]. It is a disk-like electrode that is affixed to the skin with a special adhesive and a conductive gel (pre-gelled). It may be made of x-ray translucent materials and may include permanently attached lead wires. 900000000000017005 +3657190016 20180731 1 900000000000207008 765145001 en 900000000000550004 A form of severe combined immunodeficiency (SCID) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. The disease manifests during the first months of life with severe and often life threatening viral, bacterial or fungal and failure to thrive. Chronic diarrhea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinemia, and normal or increased B cell count. The disease results from a defect in the IL2RG gene encoding the common gamma chain and transmission is X-linked. 900000000000017005 +3657191017 20180731 1 900000000000207008 765145001 en 900000000000550004 A form of severe combined immunodeficiency (SCID) characterised by severe and recurrent infections, associated with diarrhoea and failure to thrive. The disease manifests during the first months of life with severe and often life threatening viral, bacterial or fungal and failure to thrive. Chronic diarrhoea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinaemia, and normal or increased B cell count. The disease results from a defect in the IL2RG gene encoding the common gamma chain and transmission is X-linked. 900000000000017005 +3657194013 20180731 1 900000000000207008 765146000 en 900000000000550004 A group of tyrosine related oculocutaneous albinism (OCA1) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). The phenotypic spectrum seen in OCA1 is variable. Pigmentation present in the skin, hair and eyes can range from little or none to pigmentation only to the peripheries. Findings of nystagmus, photophobia and reduced visual acuity are often present. The disease is caused by a mutation in the TYR gene located on chromosome 11q14.3 encoding tyrosinase. Mutations in OCA1A and OCA1B lead to a total or partial loss of the catalytic activity of tyrosinase while those in OCA1-MP and OCA1-TS lead to minimal activity or temperature sensitive tyrosinase proteins. The different forms of OCA1 are all transmitted autosomal recessively. 900000000000017005 +3657266014 20180731 1 900000000000207008 763134002 en 900000000000550004 A rare genetic bone development disorder with characteristics of proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically presents with delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. 900000000000017005 +3657267017 20180731 1 900000000000207008 763353000 en 900000000000550004 A rare multiple congenital anomalies syndrome with mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). May also present with neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. 900000000000017005 +3657269019 20180731 1 900000000000207008 763535005 en 900000000000550004 A congenital non-syndromic limb malformation with the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hyperphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies. 900000000000017005 +3657270018 20180731 1 900000000000207008 763620003 en 900000000000550004 A rare genetic ectodermal dysplasia syndrome with characteristics of sparse, thin brittle scalp hair as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafe au lait spots on back, mild dystrophy of nails and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. 900000000000017005 +3657271019 20180731 1 900000000000207008 763713000 en 900000000000550004 A rare primary immunodeficiency disorder with characteristics of persistent CD4 T-cell lymphopenia (less than 300 cells/UL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed. 900000000000017005 +3657272014 20180731 1 900000000000207008 763828007 en 900000000000550004 A rare genetic ectodermal dysplasia syndrome with characteristics of almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe au lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. 900000000000017005 +3657273016 20180731 1 900000000000207008 763895001 en 900000000000550004 A rare genetic non-dystrophic myopathy characterized by early diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. There is evidence the disease is caused by homozygous mutation in the COL6A2 gene. 900000000000017005 +3657274010 20180731 1 900000000000207008 764946008 en 900000000000550004 A rare inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. 900000000000017005 +3657275011 20180731 1 900000000000207008 764946008 en 900000000000550004 A rare inherited cancer-predisposing syndrome characterised by the development of a broad spectrum of malignancies during childhood, including mainly brain, haematological and gastrointestinal cancers, although embryonic and other tumours have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. 900000000000017005 +3657276012 20180731 1 900000000000207008 764961009 en 900000000000550004 A hereditary renal cancer syndrome defined as development of hereditary clear cell renal cell carcinoma (ccRCC) in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other neoplasm predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbe syndrome. 900000000000017005 +3657277015 20180731 1 900000000000207008 763368004 en 900000000000550004 A rare genetic skin pigmentation anomaly disorder with characteristics of progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple cafe au lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated cafe au lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. There is evidence this disease is caused by heterozygous mutation in the KIT ligand gene (KITLG) on chromosome 12q22. 900000000000017005 +3657278013 20180731 1 900000000000207008 764950001 en 900000000000550004 A rare multiple congenital anomalies syndrome characterised by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalised contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970. 900000000000017005 +3657284011 20180731 1 900000000000207008 765190005 en 900000000000550004 A rare benign sex cord-stromal neoplasm with a typically unilateral location in the ovary. The disease has characteristics of mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and occasionally, with post-menopausal bleeding. Large neoplasms of greater than 10cm are often associated with pleural effusion and ascites (Meig syndrome triad). 900000000000017005 +3657285012 20180731 1 900000000000207008 765195000 en 900000000000550004 A rare inherited skin hyperpigmentation disorder with characteristics of widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. 900000000000017005 +3657286013 20180731 1 900000000000207008 765196004 en 900000000000550004 A rare late adult-onset myofibrillar myopathy with characteristics of progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years. 900000000000017005 +3657287016 20180731 1 900000000000207008 765204000 en 900000000000550004 A rare genetic primary bone dysplasia and lethal form of neonatal short-limbed dwarfism, with characteristics of anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (for example joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. 900000000000017005 +3657312016 20180731 1 900000000000207008 765170001 en 900000000000550004 Disease with characteristics of recurrent seizures, encephalopathy and intellectual disability with onset of symptoms typically beginning in infancy. Seizures may be refractory and intellectual disability may be mild to severe. Sudden unexpected death in epilepsy may occur in rare cases. The disease is caused by mutations in the SCN8A gene, which provides instructions for making the alpha subunit of Nav1.6. Follows an autosomal dominant pattern of inheritance however most cases of this condition result from de novo mutation. 900000000000017005 +3657319013 20180731 1 900000000000207008 765171002 en 900000000000550004 A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited. 900000000000017005 +3657378011 20180731 1 900000000000207008 765187004 en 900000000000550004 A rare slowly progressive cutaneous disease with characteristics of rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities or visceral, muscular or bone involvement has been described. 900000000000017005 +3657379015 20180731 1 900000000000207008 765188009 en 900000000000550004 A rare genetic T cell negative B cell negative severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial microorganisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins, some patients may have eosinophilia. 900000000000017005 +3657385010 20180731 1 900000000000207008 765188009 en 900000000000550004 A rare genetic T cell negative B cell negative severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial microorganisms, as well as skin rashes, chronic diarrhoea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins, some patients may have eosinophilia. 900000000000017005 +3657393010 20180731 1 900000000000207008 765191009 en 900000000000550004 A rare genetic retinal dystrophy with characteristics of irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness. 900000000000017005 +3657414019 20180731 1 900000000000207008 765197008 en 900000000000550004 Disease with characteristics of variable degrees of muscle weakness due to progressive skeletal myopathy sometimes associated with dilated cardiomyopathy or left ventricle dilation. Duchenne and Becker muscular dystrophies primarily affect males and only a small percentage of female carriers have been reported to manifest these diseases. Symptomatic female carriers usually present later in life, muscle weakness is generally mild to moderate and is usually proximal and asymmetric, some patients present with cardiac manifestations alone. Females with clinical features are usually carriers of X-chromosome rearrangements, display skewed X-inactivation or have Turner syndrome. 900000000000017005 +3657437013 20180731 1 900000000000207008 765202001 en 900000000000550004 A rare benign neoplasm of the central nervous system characterized by the development of multiple or rarely solitary meningioma in two or more blood relatives without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic. 900000000000017005 +3657438015 20180731 1 900000000000207008 765202001 en 900000000000550004 A rare benign neoplasm of the central nervous system characterised by the development of multiple or rarely solitary meningioma in two or more blood relatives without other apparent syndromic manifestations. Depending on the localisation, growth rate and size of the tumours, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic. 900000000000017005 +3657453011 20180731 1 900000000000207008 765206003 en 900000000000550004 Disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (for example digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (for example fractures, foot deformities) and infrequently neural compromise. 900000000000017005 +3657454017 20180731 1 900000000000207008 765206003 en 900000000000550004 Disorder with an extremely variable clinical presentation characterised by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (for example digits, distal limb). Compression from the rings may lead to oedema, skeletal anomalies (for example fractures, foot deformities) and infrequently neural compromise. 900000000000017005 +3657471016 20180731 1 900000000000207008 765212008 en 900000000000550004 A rare neurologic disease with characteristics of the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalmologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time. 900000000000017005 +3657484013 20180731 1 900000000000207008 765216006 en 900000000000550004 A rare neurologic disease with characteristics of seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (for example musicogenic seizures, seizures triggered by the voice). 900000000000017005 +3657499013 20180731 1 900000000000207008 765221009 en 900000000000550004 A form of non-Langerhans cell histiocytosis with characteristics of cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normal lipid levels. Microscopically, the lesions consist of monomorphous infiltrate of xanthoma macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease. 900000000000017005 +3657744015 20180731 1 900000000000207008 765275003 en 900000000000550004 A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal. 900000000000017005 +3657757011 20180731 1 900000000000207008 765282004 en 900000000000550004 A rare genetic male infertility due to oligozoospermia (number of sperm in the ejaculate inferior to 15 million/mL) resulting from a mutation in a single gene known to cause oligozoospermia. Sperm morphology may be normal. 900000000000017005 +3657916012 20180731 1 900000000000207008 47434006 en 900000000000550004 Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early graying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). 900000000000017005 +3657920011 20180731 1 900000000000207008 765326001 en 900000000000550004 Disease that is characterised clinically by neonatal hyperpigmentation, hypoglycaemia, failure to thrive, and recurrent infections and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. The disease usually presents in infancy or early childhood. Hypoglycaemic crises resulting in convulsions can lead to coma or death if untreated and recurrent hypoglycaemia may lead to neurological sequelae. Most cases are caused by defects in the adrenocorticotropin receptor, or its signalling pathway resulting in a failure of the cells of zona fasciculata in the adrenal cortex to respond appropriately to adrenocorticotrophic hormone, leading to a glucocorticoid deficiency. These defects are most commonly caused by mutations in MC2R (18p11.2) and MRAP (21q22.1). Other mutations reported include MCM4 (8q12-q13), NNT (5p12) and TXNRD2 (22q11.21). Inherited in an autosomal recessive manner. 900000000000017005 +3657921010 20180731 1 900000000000207008 765326001 en 900000000000550004 Disease that is characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. The disease usually presents in infancy or early childhood. Hypoglycemic crises resulting in convulsions can lead to coma or death if untreated and recurrent hypoglycemia may lead to neurological sequelae. Most cases are caused by defects in the adrenocorticotropin receptor, or its signaling pathway resulting in a failure of the cells of zona fasciculata in the adrenal cortex to respond appropriately to adrenocorticotrophic hormone, leading to a glucocorticoid deficiency. These defects are most commonly caused by mutations in MC2R (18p11.2) and MRAP (21q22.1). Other mutations reported include MCM4 (8q12-q13), NNT (5p12) and TXNRD2 (22q11.21). Inherited in an autosomal recessive manner. 900000000000017005 +3657925018 20180731 1 900000000000207008 765327005 en 900000000000550004 Disease that is characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Stem cell transplantation has been reported to be successful. Caused by homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. 900000000000017005 +3657926017 20180731 1 900000000000207008 765327005 en 900000000000550004 Disease that is characterised by severe microcytic anaemia, B-cell lymphopenia, panhypogammaglobulinaemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Stem cell transplantation has been reported to be successful. Caused by homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. 900000000000017005 +3657930019 20180731 1 900000000000207008 765328000 en 900000000000550004 Classical mycosis fungoides is the most common type of mycosis fungoides, a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors. The disease first manifests by skin lesions consisting of flat patches, preferentially located asymmetrically on the buttocks and other sun-protected areas (lower trunk and thighs, and the breasts in women). In the later stages of the disease, infiltrated plaques and red-violet, dome-shaped tumors or generalized erythroderma may develop. Lymph nodes are the most frequent site of extracutaneous involvement. Visceral involvement (liver, lung, and bone marrow) may also occur. The etiology remains unknown. 900000000000017005 +3657931015 20180731 1 900000000000207008 765328000 en 900000000000550004 Classical mycosis fungoides is the most common type of mycosis fungoides, a form of cutaneous T-cell lymphoma, and is characterised by slow progression from patches to more infiltrated plaques and eventually to tumours. The disease first manifests by skin lesions consisting of flat patches, preferentially located asymmetrically on the buttocks and other sun-protected areas (lower trunk and thighs, and the breasts in women). In the later stages of the disease, infiltrated plaques and red-violet, dome-shaped tumours or generalised erythroderma may develop. Lymph nodes are the most frequent site of extracutaneous involvement. Visceral involvement (liver, lung, and bone marrow) may also occur. The aetiology remains unknown. 900000000000017005 +3657936013 20180731 1 900000000000207008 765329008 en 900000000000550004 A rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. The disease is due to mutations in the CPS1 gene (2p) that encodes carbamoyl-phosphate synthetase I (CPS1), an enzyme located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa that controls the first step of the urea cycle where ammonia is converted into carbamoyl-phosphate. Mutations in this gene lead to an interruption in the urea cycle and excess nitrogen is not converted to urea for excretion by the kidneys, leading to hyperammonemia. Inherited in an autosomal recessive manner. 900000000000017005 +3657937016 20180731 1 900000000000207008 765329008 en 900000000000550004 A rare and severe disorder of urea cycle metabolism most commonly characterised by either a neonatal-onset of severe hyperammonaemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonaemia. The disease is due to mutations in the CPS1 gene (2p) that encodes carbamoyl-phosphate synthetase I (CPS1), an enzyme located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa that controls the first step of the urea cycle where ammonia is converted into carbamoyl-phosphate. Mutations in this gene lead to an interruption in the urea cycle and excess nitrogen is not converted to urea for excretion by the kidneys, leading to hyperammonemia. Inherited in an autosomal recessive manner. 900000000000017005 +3657947018 20180731 1 900000000000207008 765330003 en 900000000000550004 Inherited disease with characteristics of the development of cysts in the kidneys. The disease rarely causes any noticeable problems until the cysts grow large enough to affect renal function, usually between 30 and 60 years of age. Less commonly, children or older people may have noticeable symptoms. Two different genes are known to cause this disease PKD1 and PKD2. 900000000000017005 +3657951016 20180731 1 900000000000207008 765331004 en 900000000000550004 Disease with characteristics of early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). A contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Transmission is autosomal dominant. 900000000000017005 +3658345019 20180731 1 900000000000207008 765401006 en 900000000000550004 A group of mitochondrial DNA maintenance syndrome diseases with characteristics of predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. 900000000000017005 +3658357011 20180731 1 900000000000207008 765403009 en 900000000000550004 A severe disease with onset in infancy primarily associated with brain dysfunction combined with muscle weakness. Symptoms include hypotonia, failure to thrive, delayed development of mental and motor skills, severely impaired speech development, seizures, movement abnormalities, microcephaly and cerebral atrophy. All individuals with the disease have lactic acidosis. Also associated with congenital heart defects or arrhythmias, vision problems, hearing loss, hepatopathy and immune deficiency. Caused by mutation in the FBXL4 gene responsible for producing a protein found within mitochondria. Inherited in an autosomal recessive pattern. 900000000000017005 +3658516017 20180731 1 900000000000207008 765435009 en 900000000000550004 Disease with characteristics of abnormal inflammation throughout the body. The uncontrolled inflammation can damage body tissue and organs, including the gastrointestinal system, joints and skin. Onset is usually within the first few weeks of life with recurring episodes of fever, diarrhoea, painful, swollen joints and skin rash. Lipodystrophy is present in some individuals. Caused by mutation in the OTULIN gene, the protein produced from this gene helps control inflammation. Inherited in an autosomal recessive pattern. 900000000000017005 +3658517014 20180731 1 900000000000207008 765435009 en 900000000000550004 Disease with characteristics of abnormal inflammation throughout the body. The uncontrolled inflammation can damage body tissue and organs, including the gastrointestinal system, joints and skin. Onset is usually within the first few weeks of life with recurring episodes of fever, diarrhea, painful, swollen joints and skin rash. Lipodystrophy is present in some individuals. Caused by mutation in the OTULIN gene, the protein produced from this gene helps control inflammation. Inherited in an autosomal recessive pattern. 900000000000017005 +3658649016 20180731 1 900000000000207008 702105009 en 900000000000550004 A sterile implantable device intended to be used as an attachment for a resurfacing humeral head prosthesis joint to treat a disease-damaged (e.g., arthritic) shoulder joint. It consists of a metallic peg [e.g., titanium (Ti), cobalt-chrome (Co-Cr), stainless steel] inserted into the humeral head so that the prosthesis on the humeral articulating surface can be attached. 900000000000017005 +3658899015 20180731 1 900000000000207008 765741003 en 900000000000550004 A rare epithelial carcinoma arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland. The disease has characteristics of nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (for example primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor. 900000000000017005 +3658900013 20180731 1 900000000000207008 765745007 en 900000000000550004 A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. 900000000000017005 +3658901012 20180731 1 900000000000207008 765747004 en 900000000000550004 A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. 900000000000017005 +3658902017 20180731 1 900000000000207008 765751002 en 900000000000550004 A rare neurologic disorder with characteristics of a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (such as dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported. 900000000000017005 +3658904016 20180731 1 900000000000207008 765753004 en 900000000000550004 A rare pure or complex form of hereditary spastic paraplegia with characteristics of onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses that may be associated with intellectual disability. Additional signs such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. Caused by homozygous mutation in the NT5C2 gene on chromosome 10q24. 900000000000017005 +3658928019 20180731 1 900000000000207008 765434008 en 900000000000550004 A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. 900000000000017005 +3658929010 20180731 1 900000000000207008 765434008 en 900000000000550004 A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioural problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. 900000000000017005 +3658948014 20180731 1 900000000000207008 765484001 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (especially speech) and mild dysmorphism (including micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (for example hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia and talipes equinovarus have also been reported. 900000000000017005 +3658952014 20180731 1 900000000000207008 765485000 en 900000000000550004 A rare chromosomal anomaly syndrome with highly variable phenotype. Principal characteristics are intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (including microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (for example kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (including cafe-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (for example genital hypoplasia, phimosis, cryptorchidism). 900000000000017005 +3658962019 20180731 1 900000000000207008 765487008 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (including microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (for example hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). 900000000000017005 +3658965017 20180731 1 900000000000207008 765488003 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (including microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (for example hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations and seizures have also been reported. 900000000000017005 +3659533015 20180731 1 900000000000207008 765471005 en 900000000000550004 A rare X-linked intellectual disability syndrome with characteristics of intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. 900000000000017005 +3659538012 20180731 1 900000000000207008 765740002 en 900000000000550004 A rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less frequently abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported. 900000000000017005 +3659539016 20180731 1 900000000000207008 765740002 en 900000000000550004 A rare subtype of mixed epithelial-mesenchymal tumour, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less frequently abdominal pain. Association with long-term unopposed oestrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported. 900000000000017005 +3659548014 20180731 1 900000000000207008 765744006 en 900000000000550004 A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. 900000000000017005 +3659549018 20180731 1 900000000000207008 765744006 en 900000000000550004 A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilisation afterwards. 900000000000017005 +3659554010 20180731 1 900000000000207008 765746008 en 900000000000550004 A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs. 900000000000017005 +3659555011 20180731 1 900000000000207008 765746008 en 900000000000550004 A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. 900000000000017005 +3659562019 20180731 1 900000000000207008 765748009 en 900000000000550004 A rare acquired aplastic anaemia characterised by a severe normocytic anaemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anaemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnoea) in the absence of haemorrhagic symptoms. 900000000000017005 +3659563012 20180731 1 900000000000207008 765748009 en 900000000000550004 A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms. 900000000000017005 +3659570012 20180731 1 900000000000207008 765750001 en 900000000000550004 A rare congenital vascular anomaly syndrome characterised by venous or on occasion arterial malformations that lead to soft tissue hypertrophy and bone hypoplasia. An affected limb is generally shortened, highly deformed, painful and oedematous with associated bone and muscle hypotrophy. Single parts or multiple small parts of limbs are typically affected but more extensive involvement including complete extremity shoulder girdle and axilla have been reported. 900000000000017005 +3659571011 20180731 1 900000000000207008 765750001 en 900000000000550004 A rare congenital vascular anomaly syndrome characterized by venous or on occasion arterial malformations that lead to soft tissue hypertrophy and bone hypoplasia. An affected limb is generally shortened, highly deformed, painful and edematous with associated bone and muscle hypotrophy. Single parts or multiple small parts of limbs are typically affected but more extensive involvement including complete extremity shoulder girdle and axilla have been reported. 900000000000017005 +3659588016 20180731 1 900000000000207008 765755006 en 900000000000550004 A rare developmental defect during embryogenesis syndrome with characteristics of congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (for example preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia) along with anal anomalies such as anal atresia and rectovesical fistula. 900000000000017005 +3659595013 20180731 1 900000000000207008 765756007 en 900000000000550004 A rare infantile epilepsy syndrome with characteristics of benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness. 900000000000017005 +3659600016 20180731 1 900000000000207008 765757003 en 900000000000550004 A rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection. 900000000000017005 +3659601017 20180731 1 900000000000207008 468421000 en 900000000000550004 A sterile, battery-powered, electromechanical device assembly intended to compensate for impaired hearing by transmitting vibrations, from transduced sound waves, through the skull to the inner ear. It typically consists of a self-contained microphone, amplifier, and vibrator mounted on a titanium (Ti) post which is implanted into the skull, typically the mastoid bone, and protrudes through the skin. Sound waves are converted into electrical signals and sent to the vibrator, which transmits vibrations directly through bone to the inner ears for hearing. It is used to treat hearing impairment due to middle and/or outer ear obstructive pathologies or types of conductive hearing loss. 900000000000017005 +3659606010 20180731 1 900000000000207008 765758008 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. 900000000000017005 +3659618018 20180731 1 900000000000207008 765761009 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (for example long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (such as aortic root dilatation, mitral valve prolapse). 900000000000017005 +3659625013 20180731 1 900000000000207008 765763007 en 900000000000550004 A rare larynx anomaly with a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, feeding difficulties and failure to thrive. It can be associated with laryngomalacia. 900000000000017005 +3659795011 20180731 1 900000000000207008 765812004 en 900000000000550004 Rare congenital anomaly of the great veins with characteristics of absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases. 900000000000017005 +3659796012 20180731 1 900000000000207008 766044005 en 900000000000550004 Rare childhood-onset epilepsy syndrome associated with infection and a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy. 900000000000017005 +3659797015 20180731 1 900000000000207008 766051001 en 900000000000550004 A rare chromosomal anomaly syndrome with a variable phenotype. Principally characteristics are intellectual disability, developmental delay, short stature, craniofacial dysmorphism (including microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachy rhizomelia, poly/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated. 900000000000017005 +3659798013 20180731 1 900000000000207008 766052008 en 900000000000550004 A rare chromosomal anomaly syndrome with characteristics of low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (for example clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations. 900000000000017005 +3659799017 20180731 1 900000000000207008 766053003 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 1. The disease has characteristics of borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (including sloping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (for example atrial septal defect, patent ductus arteriosus) have also been reported. 900000000000017005 +3660334019 20180731 1 900000000000207008 765977002 en 900000000000550004 A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). 900000000000017005 +3660582014 20180731 1 900000000000207008 766032007 en 900000000000550004 A rare disease with characteristics of holoprosencephaly and ectrodactyly. Holoprosencephaly occurs during early fetal development with failure of the brain to divide into the left and right hemisphere. In the most severe forms of holoprosencephaly, the brain does not divide at all. These affected individuals have cyclopia and proboscis located above the eye. Most babies with severe holoprosencephaly die before birth or soon after. Other manifestations include malfunctioning pituitary, seizures, feeding difficulties, developmental delay and problems regulating body temperature and sleep pattern. Some affected individuals have distinctive facial features, including hypertelorism, hypotelorism, cleft lip, cleft palate. Can be caused by mutations in the FGFR1 gene. 900000000000017005 +3660596015 20180731 1 900000000000207008 766045006 en 900000000000550004 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbour unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). 900000000000017005 +3660597012 20180731 1 900000000000207008 766045006 en 900000000000550004 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). 900000000000017005 +3660603010 20180731 1 900000000000207008 766046007 en 900000000000550004 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposide, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukaemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukaemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. 900000000000017005 +3660604016 20180731 1 900000000000207008 766046007 en 900000000000550004 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposide, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. 900000000000017005 +3660610016 20180731 1 900000000000207008 766048008 en 900000000000550004 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure. 900000000000017005 +3660611017 20180731 1 900000000000207008 766048008 en 900000000000550004 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbour unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure. 900000000000017005 +3660616010 20180731 1 900000000000207008 766049000 en 900000000000550004 A rare variant of Guillain-Barre syndrome characterised by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paraesthesia, ataxia and neuropathic pain. 900000000000017005 +3660617018 20180731 1 900000000000207008 766049000 en 900000000000550004 A rare variant of Guillain-Barre syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesia, ataxia and neuropathic pain. 900000000000017005 +3660624017 20180731 1 900000000000207008 766050000 en 900000000000550004 A rare chromosomal anomaly syndrome characterized by pre and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (for example brachy/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation and autistic spectrum disorder have also been reported. 900000000000017005 +3660625016 20180731 1 900000000000207008 766050000 en 900000000000550004 A rare chromosomal anomaly syndrome characterised by pre and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (for example brachy/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphoedema, heart malformations, aplasia cutis congenita, aortic root dilatation and autistic spectrum disorder have also been reported. 900000000000017005 +3661198018 20180731 1 900000000000207008 766237006 en 900000000000550004 Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. 900000000000017005 +3661201011 20180731 1 900000000000207008 766238001 en 900000000000550004 Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. 900000000000017005 +3661204015 20180731 1 900000000000207008 766239009 en 900000000000550004 Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin with manifestation of intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. 900000000000017005 +3661207010 20180731 1 900000000000207008 766240006 en 900000000000550004 Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. 900000000000017005 +3661223010 20180731 1 900000000000207008 766246000 en 900000000000550004 A rare variant of multiple sclerosis with characteristics of a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients. 900000000000017005 +3661233019 20180731 1 900000000000207008 766247009 en 900000000000550004 A rare cancer of corpus uteri derived from neural crest cells with characteristics of small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumour is often a large, poorly circumscribed polypoid mass with necrotic areas and haemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement. 900000000000017005 +3661234013 20180731 1 900000000000207008 766247009 en 900000000000550004 A rare cancer of corpus uteri derived from neural crest cells with characteristics of small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, poorly circumscribed polypoid mass with necrotic areas and hemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement. 900000000000017005 +3661242014 20180731 1 900000000000207008 766248004 en 900000000000550004 A rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfunctional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement. 900000000000017005 +3661243016 20180731 1 900000000000207008 766248004 en 900000000000550004 A rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumour is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfunctional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement. 900000000000017005 +3661247015 20180731 1 900000000000207008 766249007 en 900000000000550004 An extremely rare anorectal malformation syndrome with characteristics of imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. 900000000000017005 +3661253015 20180731 1 900000000000207008 766251006 en 900000000000550004 A rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which result in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. 900000000000017005 +3661254014 20180731 1 900000000000207008 766251006 en 900000000000550004 A rare mitochondrial oxidative phosphorylation disorder characterised by progressive generalised hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which result in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. 900000000000017005 +3661257019 20180731 1 900000000000207008 766252004 en 900000000000550004 A rare juvenile idiopathic inflammatory myopathy characterised by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (for example systemic lupus erythematosus, localised scleroderma, diabetes). Cardiac involvement has been reported in some patients. 900000000000017005 +3661260014 20180731 1 900000000000207008 766252004 en 900000000000550004 A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (for example systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients. 900000000000017005 +3662320012 20180731 1 900000000000207008 766704005 en 900000000000550004 A rare auto inflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare life-threatening complication. 900000000000017005 +3662329013 20180731 1 900000000000207008 766706007 en 900000000000550004 A rare inflammatory myopathy characterised by diffuse destructive infiltration of CD68 positive macrophages into the fascia rather than muscle fibres in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI. 900000000000017005 +3662330015 20180731 1 900000000000207008 766706007 en 900000000000550004 A rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68 positive macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI. 900000000000017005 +3662333018 20180731 1 900000000000207008 766707003 en 900000000000550004 A rare cancer-predisposing syndrome associated with the D1 subgroup of Fanconi anemia characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other Fanconi anemia, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and acute lymphoblastic leukemia /acute myeloid leukemia. 900000000000017005 +3662334012 20180731 1 900000000000207008 766707003 en 900000000000550004 A rare cancer-predisposing syndrome associated with the D1 subgroup of Fanconi anaemia characterised by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other Fanconi anaemia, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumour, brain tumour (often medulloblastoma) and acute lymphoblastic leukaemia /acute myeloid leukaemia. 900000000000017005 +3662338010 20180731 1 900000000000207008 766708008 en 900000000000550004 Isochromosomy Yp is a rare gonosome anomaly characterised by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinisation. 900000000000017005 +3662339019 20180731 1 900000000000207008 766708008 en 900000000000550004 Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization. 900000000000017005 +3662343015 20180731 1 900000000000207008 766709000 en 900000000000550004 A rare non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. 900000000000017005 +3662344014 20180731 1 900000000000207008 766709000 en 900000000000550004 A rare non-syndromic cerebellar malformation characterised by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioural disorders such as attention deficit hyperactivity disorder and generalised anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. 900000000000017005 +3662347019 20180731 1 900000000000207008 766710005 en 900000000000550004 A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (for example abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. 900000000000017005 +3662348012 20180731 1 900000000000207008 766710005 en 900000000000550004 A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterised by variable-sized, focalised malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioural disturbances. Abnormal MRI findings (for example abnormal white and/or grey matter signal, blurred grey-white matter junction, localised volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. 900000000000017005 +3662354013 20180731 1 900000000000207008 766711009 en 900000000000550004 A rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases. 900000000000017005 +3662355014 20180731 1 900000000000207008 766711009 en 900000000000550004 A rare rheumatologic disease characterised by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, oedema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases. 900000000000017005 +3662370010 20180731 1 900000000000207008 766715000 en 900000000000550004 A rare metabolic myopathy with characteristics of muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SLC16A1 gene. 900000000000017005 +3662375017 20180731 1 900000000000207008 766716004 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 13. Principle characteristics are global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (for example polydactyly) and agenesis of the corpus callosum. 900000000000017005 +3662378015 20180731 1 900000000000207008 766717008 en 900000000000550004 A rare primary bone dysplasia disorder with characteristics of normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (including varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported. 900000000000017005 +3662384017 20180731 1 900000000000207008 766719006 en 900000000000550004 Paternal uniparental disomy of chromosome 1 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the father is a carrier. 900000000000017005 +3662387012 20180731 1 900000000000207008 766720000 en 900000000000550004 Paternal uniparental disomy of chromosome 21 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the father is a carrier. 900000000000017005 +3662390018 20180731 1 900000000000207008 766721001 en 900000000000550004 Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (for example cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss). 900000000000017005 +3662391019 20180731 1 900000000000207008 766721001 en 900000000000550004 Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (for example cystic fibrosis, congenital chloride diarrhoea, sensorineural hearing loss). 900000000000017005 +3662392014 20180731 1 900000000000207008 766722008 en 900000000000550004 A rare variant of Guillain-Barre syndrome with characteristics of isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared and sphincteric function is normal. 900000000000017005 +3662486016 20180731 1 900000000000207008 766750008 en 900000000000550004 A rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported. 900000000000017005 +3662487013 20180731 1 900000000000207008 766750008 en 900000000000550004 A rare primary bone dysplasia disorder characterised by strikingly small secondary ossification centres (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalised joint laxity have also been reported. 900000000000017005 +3662490019 20180731 1 900000000000207008 766751007 en 900000000000550004 A rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apneic episodes, recurrent respiratory infections). 900000000000017005 +3662491015 20180731 1 900000000000207008 766751007 en 900000000000550004 A rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterised by tracheooesophageal compression symptoms (stridor, dyspnoea, dysphagia, apnoeic episodes, recurrent respiratory infections). 900000000000017005 +3662494011 20180731 1 900000000000207008 766752000 en 900000000000550004 A rare syndrome of peripheral and cranial nerve dysfunction in patients with haematologic malignancies, mostly non-Hodgkin's lymphoma or acute leukaemia, characterised by painful or painless involvement of peripheral or cranial nerves or nerve roots. The clinical presentation is diverse depending on the site involved and includes plexopathy, mononeuritis multiplex, peripheral neuropathy, radiculopathy and cranial nerve palsies. 900000000000017005 +3662495012 20180731 1 900000000000207008 766752000 en 900000000000550004 A rare syndrome of peripheral and cranial nerve dysfunction in patients with hematologic malignancies, mostly non-Hodgkin's lymphoma or acute leukemia, characterized by painful or painless involvement of peripheral or cranial nerves or nerve roots. The clinical presentation is diverse depending on the site involved and includes plexopathy, mononeuritis multiplex, peripheral neuropathy, radiculopathy and cranial nerve palsies. 900000000000017005 +3662501014 20180731 1 900000000000207008 766753005 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionising radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. 900000000000017005 +3662502019 20180731 1 900000000000207008 766753005 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. 900000000000017005 +3662508015 20180731 1 900000000000207008 766755003 en 900000000000550004 A rare chromosomal anomaly syndrome with variable phenotype and principle characteristics of developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (for example clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (including macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia). 900000000000017005 +3662512014 20180731 1 900000000000207008 766756002 en 900000000000550004 A rare congenital anomaly of the great veins with characteristics of an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated. 900000000000017005 +3662516012 20180731 1 900000000000207008 766757006 en 900000000000550004 A rare epithelial tumor of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread. 900000000000017005 +3662517015 20180731 1 900000000000207008 766757006 en 900000000000550004 A rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or haematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread. 900000000000017005 +3662520011 20180731 1 900000000000207008 766758001 en 900000000000550004 A rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported. 900000000000017005 +3662523013 20180731 1 900000000000207008 766759009 en 900000000000550004 A rare vulvovaginal neoplasm, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration. 900000000000017005 +3662526017 20180731 1 900000000000207008 766760004 en 900000000000550004 A rare chromosome X structural anomaly with a highly variable phenotype. Principle characteristics are developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (for example cubitus valgus, talipes equinovarus). Patients may also present heart malformations (for example ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi and seizures. 900000000000017005 +3662535012 20180731 1 900000000000207008 766761000 en 900000000000550004 A rare genetic developmental defect during embryogenesis syndrome with characteristics of the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (for example absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (for example buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. 900000000000017005 +3662546010 20180731 1 900000000000207008 766764008 en 900000000000550004 A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. 900000000000017005 +3662549015 20180731 1 900000000000207008 766765009 en 900000000000550004 A rare developmental defect during embryogenesis with characteristics of variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. 900000000000017005 +3662553018 20180731 1 900000000000207008 766766005 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 1. The disorder has characteristics of developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (for example vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. 900000000000017005 +3662556014 20180731 1 900000000000207008 766767001 en 900000000000550004 An extremely rare complex hereditary spastic paraplegia with characteristics of infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. 900000000000017005 +3662640012 20180731 1 900000000000207008 766790006 en 900000000000550004 A route used for extracorporeal haemodialysis where the product interacts with the patient blood through a semipermeable membrane. 900000000000017005 +3662641011 20180731 1 900000000000207008 766790006 en 900000000000550004 A route used for extracorporeal hemodialysis where the product interacts with the patient blood through a semipermeable membrane. 900000000000017005 +3662699012 20180731 1 900000000000207008 766812005 en 900000000000550004 An extremely rare syndromic hair shaft anomaly with characteristics of sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. 900000000000017005 +3662704016 20180731 1 900000000000207008 766813000 en 900000000000550004 A rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. 900000000000017005 +3662705015 20180731 1 900000000000207008 766813000 en 900000000000550004 A rare ectodermal dysplasia syndrome characterised by severe generalised hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including naevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. 900000000000017005 +3662708018 20180731 1 900000000000207008 766814006 en 900000000000550004 A rare hereditary ataxia with characteristics of progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions. It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances. 900000000000017005 +3662710016 20180731 1 900000000000207008 766815007 en 900000000000550004 A rare epilepsy syndrome characterised by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalised tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome. 900000000000017005 +3662712012 20180731 1 900000000000207008 766815007 en 900000000000550004 A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome. 900000000000017005 +3662717018 20180731 1 900000000000207008 766816008 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. 900000000000017005 +3662718011 20180731 1 900000000000207008 766816008 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 2, primarily characterised by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. 900000000000017005 +3662724017 20180731 1 900000000000207008 766817004 en 900000000000550004 A rare genetic endocrine growth disease resulting from growth hormone secretagogue receptor (GHSR) deficiency. The disease has characteristics of postnatal growth delay that results in short stature. The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. 900000000000017005 +3662728019 20180731 1 900000000000207008 766818009 en 900000000000550004 A rare hereditary ataxia with characteristics of delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. 900000000000017005 +3662731018 20180731 1 900000000000207008 766819001 en 900000000000550004 A rare genetic primary bent bone dysplasia characterised by significant, uni/bilateral, lateral tibial bowing localised to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. 900000000000017005 +3662732013 20180731 1 900000000000207008 766819001 en 900000000000550004 A rare genetic primary bent bone dysplasia characterized by significant, uni/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. 900000000000017005 +3662739016 20180731 1 900000000000207008 766820007 en 900000000000550004 A rare genetic primary bone dysplasia disorder characterised by midface hypoplasia, short stature, generalised joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (for example kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly among others. 900000000000017005 +3662740019 20180731 1 900000000000207008 766820007 en 900000000000550004 A rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (for example kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly among others. 900000000000017005 +3662743017 20180731 1 900000000000207008 766821006 en 900000000000550004 A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may be lethal. 900000000000017005 +3662760010 20180731 1 900000000000207008 766824003 en 900000000000550004 Syndrome with a wide variety of signs and symptoms, hallmark features are intellectual disability and autism spectrum disorder, distinctive facial features and abnormalities of multiple body systems. Present in some cases are hypotonia, feeding difficulties in infancy, gastrooesophageal reflux, vomiting, and constipation. Other features include obesity, seizures, and heart abnormalities. Caused by mutations in the ADNP gene, the protein produced from this gene helps control expression of other genes through chromatin remodelling. Disturbance of this process alters the activity of many genes and disrupts development or function of several of the body's tissues and organs, including the brain. The syndrome results from de novo mutations in the ADNP gene and is not inherited. 900000000000017005 +3662761014 20180731 1 900000000000207008 766824003 en 900000000000550004 Syndrome with a wide variety of signs and symptoms, hallmark features are intellectual disability and autism spectrum disorder, distinctive facial features and abnormalities of multiple body systems. Present in some cases are hypotonia, feeding difficulties in infancy, gastroesophageal reflux, vomiting, and constipation. Other features include obesity, seizures, and heart abnormalities. Caused by mutations in the ADNP gene, the protein produced from this gene helps control expression of other genes through chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts development or function of several of the body's tissues and organs, including the brain. The syndrome results from de novo mutations in the ADNP gene and is not inherited. 900000000000017005 +3662967016 20180731 1 900000000000207008 766871009 en 900000000000550004 A rare genetic non-syndromic cerebral malformation with characteristics of severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. 900000000000017005 +3662971018 20180731 1 900000000000207008 766872002 en 900000000000550004 A rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex and cerebellum. 900000000000017005 +3662977019 20180731 1 900000000000207008 766874001 en 900000000000550004 A rare genetic primary bone dysplasia disorder with characteristics of early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. 900000000000017005 +3662986012 20180731 1 900000000000207008 766876004 en 900000000000550004 A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy. 900000000000017005 +3662997012 20180731 1 900000000000207008 766879006 en 900000000000550004 A rare combined T and B cell immunodeficiency with characteristics of susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. There is evidence the disease is caused by homozygous mutation in the OX40 gene (TNFRSF4) on chromosome 1p36. 900000000000017005 +3663003013 20180731 1 900000000000207008 766881008 en 900000000000550004 A rare genetic heart-hand syndrome with characteristics of typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). 900000000000017005 +3663011015 20180731 1 900000000000207008 766883006 en 900000000000550004 A rare familial dilated cardiomyopathy with characteristics of left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase. 900000000000017005 +3663016013 20180731 1 900000000000207008 766884000 en 900000000000550004 A rare genetic cranial malformation with characteristics of unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure. 900000000000017005 +3663027010 20180731 1 900000000000207008 766888002 en 900000000000550004 A rare benign genetic skin disease with characteristics of numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported. 900000000000017005 +3663194012 20180731 1 900000000000207008 766927009 en 900000000000550004 A rare breast malformation with characteristics of the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported. 900000000000017005 +3663198010 20180731 1 900000000000207008 766928004 en 900000000000550004 A rare genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillae and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. 900000000000017005 +3663199019 20180731 1 900000000000207008 766928004 en 900000000000550004 A rare genetic skin disease characterised by multiple milium-like, comedone-like lesions and skin-coloured to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillae and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. 900000000000017005 +3663203019 20180731 1 900000000000207008 766929007 en 900000000000550004 A rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and with characteristics of an apparently asymptomatic clinical phenotype. 900000000000017005 +3663206010 20180731 1 900000000000207008 766930002 en 900000000000550004 A rare cancer of the uterine cervix composed of nests of large neoplastic cells with "ground glass" cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk Human papillomavirus infection (types 18, 16 and 32). 900000000000017005 +3663206010 20210930 0 900000000000207008 766930002 en 900000000000550004 A rare cancer of the uterine cervix composed of nests of large neoplastic cells with "ground glass" cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk Human papillomavirus infection (types 18, 16 and 32). 900000000000017005 +3663209015 20180731 1 900000000000207008 766931003 en 900000000000550004 A rare genetic limb malformation syndrome with characteristics of multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (such as lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. 900000000000017005 +3663212017 20180731 1 900000000000207008 766932005 en 900000000000550004 A rare cerebral malformation with epilepsy syndrome characterised by early-onset gelastic (ictal laughter) or dacrystic (ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalised seizures, with concomitant cognitive decline and behavioural disorders. Some patients also present a precocious puberty. 900000000000017005 +3663213010 20180731 1 900000000000207008 766932005 en 900000000000550004 A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (ictal laughter) or dacrystic (ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. 900000000000017005 +3663216019 20180731 1 900000000000207008 766933000 en 900000000000550004 A rare inflammatory eye disease of unknown aetiology characterised by generalised inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular oedema and/or retinal detachment. It could potentially result in vision loss. 900000000000017005 +3663217011 20180731 1 900000000000207008 766933000 en 900000000000550004 A rare inflammatory eye disease of unknown etiology characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss. 900000000000017005 +3663219014 20180731 1 900000000000207008 766934006 en 900000000000550004 A rare non-syndromic cerebellar malformation with characteristics of loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal. 900000000000017005 +3663227017 20180731 1 900000000000207008 766935007 en 900000000000550004 A rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common. 900000000000017005 +3663228010 20180731 1 900000000000207008 766935007 en 900000000000550004 A rare lymphoid haemopathy defined as single or multiple tumours in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common. 900000000000017005 +3663236018 20180731 1 900000000000207008 766937004 en 900000000000550004 A rare genetic hypertension with characteristics of a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery. 900000000000017005 +3663293011 20180731 1 900000000000207008 766953001 en 900000000000550004 This attribute represents the number of active ingredients or precise active ingredients in a medicinal product. It is simply a count of attribute 'has active ingredient' or 'has precise active ingredient' in a concept definition. 900000000000017005 +3663293011 20190131 1 900000000000012004 766953001 en 900000000000550004 This attribute represents the number of active ingredients or precise active ingredients in a medicinal product. It is simply a count of attribute 'has active ingredient' or 'has precise active ingredient' in a concept definition. 900000000000017005 +3663533013 20180731 1 900000000000207008 766976003 en 900000000000550004 A rare congenital heart malformation with characteristics of tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. 900000000000017005 +3663542018 20180731 1 900000000000207008 766977007 en 900000000000550004 A rare axonal hereditary motor and sensory neuropathy with early onset (less than 10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop. 900000000000017005 +3663545016 20180731 1 900000000000207008 766978002 en 900000000000550004 A rare hepatic and biliary tract tumour, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterised by a substantial keratinisation with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumour and symptoms of adjacent organ involvement. 900000000000017005 +3663546015 20180731 1 900000000000207008 766978002 en 900000000000550004 A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement. 900000000000017005 +3663550010 20180731 1 900000000000207008 766979005 en 900000000000550004 A rare epithelial tumour of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of squamous cell carcinoma of anal or gynaecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits. 900000000000017005 +3663551014 20180731 1 900000000000207008 766979005 en 900000000000550004 A rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of squamous cell carcinoma of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits. 900000000000017005 +3663555017 20180731 1 900000000000207008 766980008 en 900000000000550004 A rare epithelial tumor of the stomach, defined histopathologically as keratinizing cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without esophageal involvement. It is characterized by preferential location in the upper third of the stomach, high probability of lympho vascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melena or hematochezia, hematemesis and weight loss. 900000000000017005 +3663556016 20180731 1 900000000000207008 766980008 en 900000000000550004 A rare epithelial tumour of the stomach, defined histopathologically as keratinising cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without oesophageal involvement. It is characterised by preferential location in the upper third of the stomach, high probability of lympho vascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melaena or haematochezia, haematemesis and weight loss. 900000000000017005 +3663559011 20180731 1 900000000000207008 766981007 en 900000000000550004 A rare epithelial tumor of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal squamous cell carcinoma. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, hematochezia or melena. Cases of severe symptomatic hypercalcemia have been reported. 900000000000017005 +3663560018 20180731 1 900000000000207008 766981007 en 900000000000550004 A rare epithelial tumour of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal squamous cell carcinoma. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, haematochezia or melaena. Cases of severe symptomatic hypercalcaemia have been reported. 900000000000017005 +3663567015 20180731 1 900000000000207008 766982000 en 900000000000550004 A rare haemolytic anaemia due to an erythrocyte nucleotide metabolism disorder characterised by moderate to severe chronic nonspherocytic haemolytic anaemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment. 900000000000017005 +3663568013 20180731 1 900000000000207008 766982000 en 900000000000550004 A rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment. 900000000000017005 +3663572012 20180731 1 900000000000207008 766983005 en 900000000000550004 A rare primary immunodeficiency due to a defect in adaptive immunity characterised by the absence of CD8 positive T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity ranges from fatal respiratory insufficiency to mild or asymptomatic phenotypes. 900000000000017005 +3663573019 20180731 1 900000000000207008 766983005 en 900000000000550004 A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8 positive T cells with normal immunoglobulin and specific antibody titers in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity ranges from fatal respiratory insufficiency to mild or asymptomatic phenotypes. 900000000000017005 +3663587019 20180731 1 900000000000207008 766986002 en 900000000000550004 A rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency and may occur at any age. Steroid withdrawal is the most common cause in patients with chronic adrenal insufficiency. A precipitating illness, surgery without adrenal support, pregnancy, any acute or chronic disease, or acute trauma are other potential causes of an acute adrenal crisis. The disorder may result from an acute exacerbation of chronic primary adrenal insufficiency. Laboratory exams show signs of adrenal insufficiency (hypoglycaemia, hyponatraemia and elevated natriuresis, hyperkaliaemia, haemoconcentration, hypochloraemic metabolic acidosis and functional renal failure) confirmed by hypocortisolaemia, increased adrenocorticotropic hormone (ACTH) and an insufficient response to rapid ACTH stimulation testing. 900000000000017005 +3663588012 20180731 1 900000000000207008 766986002 en 900000000000550004 A rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency and may occur at any age. Steroid withdrawal is the most common cause in patients with chronic adrenal insufficiency. A precipitating illness, surgery without adrenal support, pregnancy, any acute or chronic disease, or acute trauma are other potential causes of an acute adrenal crisis. The disorder may result from an acute exacerbation of chronic primary adrenal insufficiency. Laboratory exams show signs of adrenal insufficiency (hypoglycemia, hyponatremia and elevated natriuresis, hyperkaliemia, hemoconcentration, hypochloremic metabolic acidosis and functional renal failure) confirmed by hypocortisolemia, increased adrenocorticotropic hormone (ACTH) and an insufficient response to rapid ACTH stimulation testing. 900000000000017005 +3663592017 20180731 1 900000000000207008 766987006 en 900000000000550004 A very rare congenital cranial dysinnervation disorder with characteristics of complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies. 900000000000017005 +3663610015 20180731 1 900000000000207008 766992008 en 900000000000550004 A very rare syndrome with characteristics of progressive loss of bone usually of the carpal and tarsal bones resulting in deformity and disability and accompanied by chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. There is evidence the disease is caused by heterozygous mutation in the MAFB gene on chromosome 20q12. 900000000000017005 +3663761016 20180731 1 900000000000207008 767017008 en 900000000000550004 An array of conditions related to the stress of throwing in children and young adolescents. 900000000000017005 +3663812014 20180731 1 900000000000207008 438921000124102 en 900000000000550004 Providing magnesium based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663813016 20180731 1 900000000000207008 762949000 en 900000000000550004 The most specific description of a substance present in the manufactured dose form, before any dilution or transformation. It includes modifiers, such as salts, esters, polymers (e.g. pegylation), and/or solvates (including waters of hydration). 900000000000017005 +3663813016 20190131 1 900000000000012004 762949000 en 900000000000550004 The most specific description of a substance present in the manufactured dose form, before any dilution or transformation. It includes modifiers, such as salts, esters, polymers (e.g. pegylation), and/or solvates (including waters of hydration). 900000000000017005 +3663814010 20180731 1 900000000000207008 127489000 en 900000000000550004 The clinically relevant part or whole of the substance that is intended to have a therapeutic action on or within the body. It excludes esters, salts or other non-covalent derivatives (such as a complex, chelate etc.), but may include secondary modifications. 900000000000017005 +3663814010 20190131 1 900000000000012004 127489000 en 900000000000550004 The clinically relevant part or whole of the substance that is intended to have a therapeutic action on or within the body. It excludes esters, salts or other non-covalent derivatives (such as a complex, chelate etc.), but may include secondary modifications. 900000000000017005 +3663939017 20180731 1 900000000000207008 240407009 en 900000000000550004 Type 1 lepra reactions or reversal reactions are associated with the development of M. leprae antigenic determinants. They are delayed hypersensitivity reactions and may occur in both paucibacillary leprosy and multibacillary leprosy. (WHO) 900000000000017005 +3663983014 20180731 1 900000000000207008 439171000124107 en 900000000000550004 Providing a prepared food to supplement energy or nutrient intake. 900000000000017005 +3663984015 20180731 1 900000000000207008 439131000124109 en 900000000000550004 Providing commercial or prepared foods or beverages to supplement energy or nutrient intake. 900000000000017005 +3663985019 20180731 1 900000000000207008 438911000124105 en 900000000000550004 Providing iron based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663986018 20180731 1 900000000000207008 438831000124109 en 900000000000550004 Providing boron based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663987010 20180731 1 900000000000207008 438981000124103 en 900000000000550004 Providing sodium based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663988017 20180731 1 900000000000207008 438881000124105 en 900000000000550004 Providing copper based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663989013 20180731 1 900000000000207008 438901000124107 en 900000000000550004 Providing iodine based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663990016 20180731 1 900000000000207008 438701000124109 en 900000000000550004 Providing biotin based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663991017 20180731 1 900000000000207008 438751000124108 en 900000000000550004 Providing thiamin based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663991017 20190731 0 900000000000207008 438751000124108 en 900000000000550004 Providing thiamin based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663993019 20180731 1 900000000000207008 438721000124104 en 900000000000550004 Providing niacin based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663994013 20180731 1 900000000000207008 438711000124107 en 900000000000550004 Providing folate based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663995014 20180731 1 900000000000207008 438891000124108 en 900000000000550004 Providing fluoride based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663996010 20180731 1 900000000000207008 438971000124101 en 900000000000550004 Providing selenium based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663997018 20180731 1 900000000000207008 438741000124106 en 900000000000550004 Providing riboflavin based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663998011 20180731 1 900000000000207008 438731000124101 en 900000000000550004 Providing pantothenic acid based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3663999015 20180731 1 900000000000207008 435641000124109 en 900000000000550004 Providing multiple minerals based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3664000018 20180731 1 900000000000207008 435621000124102 en 900000000000550004 Providing multiple trace element minerals, based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3664183016 20180731 1 900000000000207008 240410002 en 900000000000550004 Type 2 lepra reactions (erythema nodosum leprosum), are associated with circulation and tissue deposition of immune complexes. They are an antibody response or immune complex response to M. leprae antigenic determinants which occur only in multibacillary leprosy. (WHO) 900000000000017005 +3664241015 20180731 1 900000000000207008 438841000124104 en 900000000000550004 Providing calcium based on suboptimal food or fluid intake, iatrogenic deficiency or medical diagnosis. 900000000000017005 +3664244011 20180731 1 900000000000207008 763834000 en 900000000000550004 A rare subtype of orofaciodigital syndrome with sporadic occurrence and characteristics of cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulum, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals are also associated. 900000000000017005 +3664245012 20180731 1 900000000000207008 763837007 en 900000000000550004 A rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations. The disease has characteristics of severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulum, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign on brain imaging are also associated. 900000000000017005 +3664246013 20180731 1 900000000000207008 763867001 en 900000000000550004 A rare genetic, poly malformative syndrome with characteristics of progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems are also associated. Patients present an increased risk of developing cancer. 900000000000017005 +3664247016 20180731 1 900000000000207008 435811000124106 en 900000000000550004 Increase or decrease in vitamin content of the diet. Treatment for conditions resulting from inadequate or excessive vitamin intake. 900000000000017005 +3664248014 20180731 1 900000000000207008 764998005 en 900000000000550004 A rare neuro inflammatory/neuro autoimmune disease with characteristics of acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders. 900000000000017005 +3664248014 20220630 0 900000000000207008 764998005 en 900000000000550004 A rare neuro inflammatory/neuro autoimmune disease with characteristics of acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders. 900000000000017005 +3664249018 20180731 1 900000000000207008 765325002 en 900000000000550004 Rare syndrome with the association of the features of Waardenburg Shah and neurological features namely neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. Autonomic dysfunction (reduced saliva production, sweating and tearing, and bradycardia and arrhythmia) may also be present. Delayed white matter myelination is present on brain MRI, and may also be responsible for neuropathy at the peripheral level. Hirschsprung disease is sometimes absent. Most of the cases are caused by mutations involving the SOX10 gene (22q13.1): either a large deletion or point mutation located in the last two exons. 900000000000017005 +3664250018 20180731 1 900000000000207008 765486004 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are pre and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (including triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (clinodactyly, brachydactyly), cafe au lait patches and hypospadias. 900000000000017005 +3664251019 20180731 1 900000000000207008 765489006 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, cafe au lait spots), microcephaly and facial dysmorphism (including facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (cryptorchidism, hypospadias, micropenis). 900000000000017005 +3664252014 20180731 1 900000000000207008 765489006 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are growth failure, short stature, intellectual disability, dermatological abnormalities (naevus flammeus, dark pigmented naevi, cafe au lait spots), microcephaly and facial dysmorphism (including facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (cryptorchidism, hypospadias, micropenis). 900000000000017005 +3664254010 20180731 1 900000000000207008 766705006 en 900000000000550004 A rare genetic immunodeficiency due to a complement cascade protein anomaly characterised by low or undetectable serum ficolin 3 levels, susceptibility to infections and possibly autoimmunity. The presentation is variable, from perinatal necrotising enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients clinical consequences of ficolin 3 deficiency were not clear. There is evidence that ficolin 3 deficiency is caused by homozygous mutation in the FCN3 gene on chromosome 1p36. 900000000000017005 +3664256012 20180731 1 900000000000207008 766705006 en 900000000000550004 A rare genetic immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin 3 levels, susceptibility to infections and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients clinical consequences of ficolin 3 deficiency were not clear. There is evidence that ficolin 3 deficiency is caused by homozygous mutation in the FCN3 gene on chromosome 1p36. 900000000000017005 +3664260010 20180731 1 900000000000207008 766870005 en 900000000000550004 A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Severe behaviour disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns are also associated. There have been no further descriptions in the literature since 1992. 900000000000017005 +3664261014 20180731 1 900000000000207008 766870005 en 900000000000550004 A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns are also associated. There have been no further descriptions in the literature since 1992. 900000000000017005 +3664418014 20180731 1 900000000000207008 767130007 en 900000000000550004 Syndrome with characteristics of deafness, cleft palate and digital anomalies, which is divided into two forms, based on severity: the milder form designated Otopalatodigital syndrome type 1 (OPD1), and the more severe and often lethal form designated Otopalatodigital syndrome type 2 (OPD2). Otopalatodigital syndrome (OPD) is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders. 900000000000017005 +3664983015 20180731 1 900000000000207008 767023003 en 900000000000550004 Any period of life commencing after birth, but before death. 900000000000017005 +3670131015 20180731 1 900000000000207008 767263007 en 900000000000550004 A chromosomal anomaly that causes a congenital malformation disorder with common features that includes cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. The disease has a variable clinical phenotype that ranges from mild to severe. The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. The deletion is due to a non-allelic meiotic recombination during spermatogenesis or oogenesis. The variable expression of the 22q11.2 phenotype is thought to be due to genetic modifiers on either the other 22q11.2 allele or on other chromosomes. The deletion arises de novo in 90% of the cases. 900000000000017005 +3672027016 20180731 1 900000000000207008 767497003 en 900000000000550004 A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, cyanosis from birth is the only symptom. RCM type 2 is much more severe; the cyanosis is accompanied by neurological dysfunction (with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia), which usually becomes evident during the first four months of life. RCM type 1 is caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. RCM type 2 is caused by global loss of Cb5R function. RCM type 1 is generally associated with missense mutations, whereas RCM type 2 is more commonly associated with truncating mutations, splicing errors or mutations that lead to disruption of the active site. 900000000000017005 +3672034019 20180731 1 900000000000207008 767499000 en 900000000000550004 In type 1 cyanosis from birth is the only symptom, it is well tolerated and is associated with mild complaints of headaches, fatigue and shortness of breath upon exertion. Caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. 900000000000017005 +3672035018 20180731 1 900000000000207008 767498008 en 900000000000550004 Type 2 is much more severe than Type I, cyanosis is accompanied by neurological dysfunction with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia, which usually becomes evident during the first four months of life. Caused by global loss of Cb5R function. 900000000000017005 +3672043011 20180731 1 900000000000207008 417272007 en 900000000000550004 Soft tissue manipulative technique using passively induced jaw motion to improve drainage of middle ear structures via the Eustachian tube and lymphatics. 900000000000017005 +3672316014 20180731 1 900000000000207008 79341000119107 en 900000000000550004 Mixed dementia is the co-occurrence of Alzheimer disease and cerebrovascular disease. 900000000000017005 +3672819014 20180731 1 900000000000207008 767574004 en 900000000000550004 Operation on parathyroid gland during thyroidectomy. 900000000000017005 +3672975011 20180731 1 900000000000207008 416853009 en 900000000000550004 A somatic dysfunction in which the innominate bone is rotated posteriorly around a transverse axis relative to the sacrum. The innominate moves more freely in posterior rotation and is restricted in anterior rotation. The anterior superior iliac spine (ASIS) is positioned superiorly and the posterior superior iliac spine (PSIS) is positioned inferiorly when compared to the contralateral landmarks. 900000000000017005 +3672999011 20180731 1 900000000000207008 722119002 en 900000000000550004 Glomerulonephritis with electron dense deposits in the glomerular basement membrane; after exclusion of membranous nephropathy caused by malignancy, systemic lupus erythematosus, drugs, or infection. Includes membranous nephropathy associated with autoantibodies to the phospholipase A2 receptor1. 900000000000017005 +3682345017 20180731 1 900000000000207008 416269009 en 900000000000550004 The skillful use of the hands to diagnose and treat structural and functional abnormalities in various tissues and organs throughout the body, including bones, joints, muscles, and other soft tissues. 900000000000017005 +3684189010 20180731 1 900000000000207008 768010007 en 900000000000550004 Describes a posterior tooth relationship bilaterally where the posterior teeth are in crossbite on both the right and left side. 900000000000017005 +3684197015 20180731 1 900000000000207008 768012004 en 900000000000550004 A deep overbite resulting in the mandibular teeth impinging on and stripping the oral mucosa from the lingual of the maxillary teeth. 900000000000017005 +3685699011 20180731 1 900000000000207008 63684002 en 900000000000550004 A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhoea, dysphagia, and/or urinary tract infections. 900000000000017005 +3685700012 20180731 1 900000000000207008 63684002 en 900000000000550004 A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections. 900000000000017005 +3685710015 20180731 1 900000000000207008 768470007 en 900000000000550004 A type of primary hyperaldosteronism resulting from a benign neoplasm of the adrenal gland. The adrenal neoplasm increases production of aldosterone. Excess aldosterone causes the kidneys to retain more salt than usual resulting in increases in body fluid levels and blood pressure. The disease is caused by mutations in one of several genes. The most commonly mutated gene is KCNJ5, accounting for an estimated 40 percent of the neoplasms, followed by the CACNA1D and ATP1A1 genes. Changes in other genes cause a small percentage of cases with additional unidentified genes involved in the condition. The disease is generally not inherited but may arise from a mutation occurring after conception. 900000000000017005 +3685716014 20180731 1 900000000000207008 768471006 en 900000000000550004 A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent 900000000000017005 +3685717017 20180731 1 900000000000207008 768471006 en 900000000000550004 A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioural problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent 900000000000017005 +3685723010 20180731 1 900000000000207008 768472004 en 900000000000550004 Pituitary abnormality that causes abnormally fast growth in infancy or early childhood. Individuals may present with hyperplasia of the pituitary gland or a benign pituitary adenoma. Rarely both pituitary hyperplasia and an adenoma may be present. The abnormal pituitary gland releases excess amounts of growth hormone and in some cases excess amounts of growth hormone releasing hormone. Additional manifestations of the disorder include coarse facial features, acral enlargement, an increased appetite and acanthosis nigricans. Caused by duplication on the X chromosome, the duplication, often referred to as an Xq26.3 microduplication, occurs on the long (q) arm of the chromosome at a location designated q26.3. The disease follows an X-linked dominant inheritance pattern. In females, the condition results from de novo duplications involving the GPR101 gene. In males, the condition often results from somatic mosaicism. Other affected males inherit the duplication from their affected mother. 900000000000017005 +3685737018 20180731 1 900000000000207008 768473009 en 900000000000550004 Syndrome with manifestations of intellectual disability and delayed development of speech and motor skills with expressive language skills generally more severely affected. Individuals may be unable to speak, learn to walk later or may never walk. In infancy hypotonia and feeding difficulties may be present along with dysphagia, hypersomnolence, hypothermia and hypoventilation. Recurrent seizures are common. Caused by mutations in the PURA gene, which provides instructions for the protein Pur-alpha. This protein has multiple roles in cells, including gene transcription and replication of DNA. The disease is inherited in an autosomal dominant pattern, however most cases result from de novo mutation. 900000000000017005 +3686027010 20180731 1 900000000000207008 768553002 en 900000000000550004 An inherited disorder characterised by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. Two types of hypermanganesemia with dystonia have been identified; hypermanganesemia with dystonia, polycythaemia, and cirrhosis (HMDPC) and hypermanganesemia with dystonia 2 and they are distinguished by genetic cause and features. Inherited in an autosomal recessive pattern. 900000000000017005 +3686028017 20180731 1 900000000000207008 768553002 en 900000000000550004 An inherited disorder characterized by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. Two types of hypermanganesemia with dystonia have been identified; hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) and hypermanganesemia with dystonia 2 and they are distinguished by genetic cause and features. Inherited in an autosomal recessive pattern. 900000000000017005 +3686032011 20180731 1 900000000000207008 768554008 en 900000000000550004 An inherited disorder characterized by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. This disease is caused by mutations in the SLC39A14 gene responsible for instructions for proteins that transport manganese across cell membranes. Because SLC39A14 gene mutations prevent manganese from entering liver cells, this disease does not cause liver damage. Polycythemia is also absent but the reason for this is unknown. Inherited in an autosomal recessive pattern. 900000000000017005 +3686033018 20180731 1 900000000000207008 768554008 en 900000000000550004 An inherited disorder characterised by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. This disease is caused by mutations in the SLC39A14 gene responsible for instructions for proteins that transport manganese across cell membranes. Because SLC39A14 gene mutations prevent manganese from entering liver cells, this disease does not cause liver damage. Polycythaemia is also absent but the reason for this is unknown. Inherited in an autosomal recessive pattern. 900000000000017005 +3686038010 20180731 1 900000000000207008 768555009 en 900000000000550004 Syndrome with characteristics of infancy onset hypotonia, feeding difficulties, breathing problems, dysphagia, severely delayed development of speech and motor skills, distinctive facial features, recurrent seizures and seizure-like episodes (muscle jerking, twitching, and stiffening). Brain abnormalities may also be present several of which are caused by reduced production of myelin or delayed maturation of myelin. Caused by a microdeletion occurring on the long (q) arm of chromosome 5 at a position designated q31.3. The deleted region typically contains at least three genes. The loss of one of these genes, PURA, is thought to lead to most of the characteristic features of the condition. The condition is not inherited. 900000000000017005 +3686042013 20180731 1 900000000000207008 768556005 en 900000000000550004 Rare disease affecting the cerebellum and the bone marrow. Onset and symptoms vary among affected individuals. Atrophy and changes to the cerebellum cause problems including ataxia, dysmetria, clonus, nystagmus and these neurological issues worsen over time. Pancytopenia can result in extreme fatigue, anemia, neutropenia and thrombocytopenia. This disease is also associated with increased risk of blood malignancy particularly myelodysplastic syndrome and acute myeloid leukemia. Caused by inherited gain of function mutations in the SAMD9L gene. Inherited in an autosomal dominant pattern. 900000000000017005 +3686043015 20180731 1 900000000000207008 768556005 en 900000000000550004 Rare disease affecting the cerebellum and the bone marrow. Onset and symptoms vary among affected individuals. Atrophy and changes to the cerebellum cause problems including ataxia, dysmetria, clonus, nystagmus and these neurological issues worsen over time. Pancytopenia can result in extreme fatigue, anaemia, neutropenia and thrombocytopenia. This disease is also associated with increased risk of blood malignancy particularly myelodysplastic syndrome and acute myeloid leukaemia. Caused by inherited gain of function mutations in the SAMD9L gene. Inherited in an autosomal dominant pattern. 900000000000017005 +3686057018 20180731 1 900000000000207008 768560008 en 900000000000550004 An immunodeficiency disorder with onset in infancy that leads to recurrent, severe infections of the respiratory tract. Infections are most frequently caused by rhinovirus. Respiratory syncytial virus and the influenza virus may also cause recurrent infections. Infection may require hospital admission and repeated infection can lead to chronic lung disease. Infections usually become less frequent with maturity. Caused by mutations in the IFIH1 gene, which provides instructions for making the MDA5 protein. Deficiency of MDA5 protein activity reduces interferon production in response to RNA-containing viruses. The inheritance pattern is unclear. In some cases, the condition seems to follow an autosomal recessive pattern, in other cases it appears that the condition is inherited in an autosomal dominant pattern. 900000000000017005 +3686402014 20180731 1 900000000000207008 768663003 en 900000000000550004 A disorder of the white matter of the brain causing neurological problems, which can occur, anytime from childhood to adulthood. Characteristics of the disease include learning disabilities, retinopathy, atrophy of the optic nerves, spasticity, infertility in males, vertigo, tinnitus, hearing loss, paroxysmal kinesigenic dyskinesia and psychiatric disorders. In affected individuals, myelin becomes oedematous causing impaired nerve impulse transmission. Caused by mutations in the CLCN2 gene. Inherited in an autosomal recessive pattern. 900000000000017005 +3686403016 20180731 1 900000000000207008 768663003 en 900000000000550004 A disorder of the white matter of the brain causing neurological problems, which can occur, anytime from childhood to adulthood. Characteristics of the disease include learning disabilities, retinopathy, atrophy of the optic nerves, spasticity, infertility in males, vertigo, tinnitus, hearing loss, paroxysmal kinesigenic dyskinesia and psychiatric disorders. In affected individuals, myelin becomes edematous causing impaired nerve impulse transmission. Caused by mutations in the CLCN2 gene. Inherited in an autosomal recessive pattern. 900000000000017005 +3686416016 20180731 1 900000000000207008 768666006 en 900000000000550004 Disorder with characteristics of recurrent seizures, encephalopathy, and intellectual disability with typical onset in infancy. In most cases, seizures cease by age one, however the other neurological symptoms persist. The most common seizures are infantile spasms, however other seizure types associated with this disease include myoclonic seizures, atonic seizures, absence seizures, tonic-clonic seizures. Most individuals have more than one type of seizure and they may be refractory. Caused by mutations in the STXBP1 gene. STXBP1 gene mutations reduce the amount of functional protein produced which impairs the release of neurotransmitters from neurons, a change in levels may result in seizures. Inherited in an autosomal dominant pattern however most cases result from de novo mutations. 900000000000017005 +3686431013 20180731 1 900000000000207008 768667002 en 900000000000550004 A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause. 900000000000017005 +3686459014 20180731 1 900000000000207008 768677000 en 900000000000550004 A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability. Additional manifestations may include hypotonia, delayed development of motor skills, delayed speech development, recurrent seizures, autism spectrum disorder, macrocephaly and unusual facial features including frontal bossing, hypertelorism and downslanting palpebral fissures. Caused by mutations in the PPP2R5D gene, which provides instructions for making B56-delta resulting in the production of an altered B56 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo gene mutation. 900000000000017005 +3686682019 20180731 1 900000000000207008 768734005 en 900000000000550004 A person who coordinates clinical research studies. 900000000000017005 +3686684018 20180731 1 900000000000207008 768730001 en 900000000000550004 Unlicensed individual who may have training or certification and performs routine care activities for a patent in the home and may assist with activities of daily living. 900000000000017005 +3686685017 20180731 1 900000000000207008 768731002 en 900000000000550004 A person who performs routine tasks and household duties for a patient in their home. 900000000000017005 +3686686016 20180731 1 900000000000207008 768732009 en 900000000000550004 A person who teaches in schools on the subject of promotion of health awareness and prevention of disease or injury. 900000000000017005 +3686689011 20180731 1 900000000000207008 768733004 en 900000000000550004 A person who has been trained to help guide another person in their spiritual journey. 900000000000017005 +3687001018 20180731 1 900000000000207008 767921003 en 900000000000550004 Tooth requires a dental crown due to weakened and limited natural tooth remaining from previous large restoration. 900000000000017005 +3687003015 20180731 1 900000000000207008 769036006 en 900000000000550004 Benign condition with purple-colored patches, plaques or nodules, usually found bilaterally on the extensor surfaces of the lower extremities and associated with chronic venous insufficiency and arteriovenous malformations. A reactive angiodysplasia of preexisting cutaneous blood vessels that resembles malignant conditions like Kaposi's sarcoma and requires histopathological examination for its diagnosis and differentiation. 900000000000017005 +3687009016 20180731 1 900000000000207008 768815003 en 900000000000550004 Domain expert who is responsible for contributing domain specific expertise and advises on planning, organising and conducting research. 900000000000017005 +3687010014 20180731 1 900000000000207008 768815003 en 900000000000550004 Domain expert who is responsible for contributing domain specific expertise and advises on planning, organizing and conducting research. 900000000000017005 +3687013011 20180731 1 900000000000207008 768816002 en 900000000000550004 A professional who works in projects of sponsoring organisation and is responsible for planning, organising and conducting regulated research. 900000000000017005 +3687014017 20180731 1 900000000000207008 768816002 en 900000000000550004 A professional who works in projects of sponsoring organization and is responsible for planning, organizing and conducting regulated research. 900000000000017005 +3687017012 20180731 1 900000000000207008 768817006 en 900000000000550004 A person who shares the primary responsibility for the preparation, conduct, and administration of a research grant, cooperative agreement, or other sponsored project in compliance with applicable laws and regulations and institutional policy governing the conduct of clinical research. 900000000000017005 +3687020016 20180731 1 900000000000207008 768818001 en 900000000000550004 The individual primarily responsible for the preparation, conduct, and administration of a research grant, cooperative agreement, or other sponsored project in compliance with applicable laws and regulations and institutional policy governing the conduct of clinical research. 900000000000017005 +3687023019 20180731 1 900000000000207008 768819009 en 900000000000550004 Clinician involved in a research study who is responsible for medical care of a subject or subjects in the study. 900000000000017005 +3687025014 20180731 1 900000000000207008 768820003 en 900000000000550004 A person who coordinates multi-disciplinary patient care services, assuring that patients receive the care intended by their care plan. 900000000000017005 +3687029015 20180731 1 900000000000207008 768821004 en 900000000000550004 A person who coordinates the activities of a care team. 900000000000017005 +3687042015 20180731 1 900000000000207008 768825008 en 900000000000550004 A non-medical person who stays with and assists a woman before, during, or after childbirth. 900000000000017005 +3687045018 20180731 1 900000000000207008 768826009 en 900000000000550004 A person who provides support and guidance to an individual or a group of people such as a family or community during a crisis. 900000000000017005 +3687050012 20180731 1 900000000000207008 768827000 en 900000000000550004 Person qualified and licensed to practice in fields including nutrition, food science and public health. 900000000000017005 +3687052016 20180731 1 900000000000207008 768828005 en 900000000000550004 Public health professional who investigates patterns and causes of disease and injury in humans. 900000000000017005 +3687137014 20180731 1 900000000000207008 768832004 en 900000000000550004 A person who undertakes a collaborative process of assessment, planning, facilitation, care coordination, evaluation, and advocacy for options and services to meet individual and family. comprehensive health needs. 900000000000017005 +3687140014 20180731 1 900000000000207008 768833009 en 900000000000550004 A physician who has the authority and assumes the responsibility for patient discharge from a healthcare facility. 900000000000017005 +3687141013 20180731 1 900000000000207008 768834003 en 900000000000550004 A person who has the responsibility of communicating and coordinating healthcare interventions for individuals in populations with a specific condition. 900000000000017005 +3687150010 20180731 1 900000000000207008 768836001 en 900000000000550004 Individual who provides personal guidance to patients as they move through the health care system. Patient navigators may have professional medical, legal, financial, or administrative experience. 900000000000017005 +3687155017 20180731 1 900000000000207008 768837005 en 900000000000550004 Physician whose practice is limited to care of hospitalized patients. 900000000000017005 +3687157013 20180731 1 900000000000207008 768837005 en 900000000000550004 Physician whose practice is limited to care of hospitalised patients. 900000000000017005 +3687168013 20180731 1 900000000000207008 768839008 en 900000000000550004 A healthcare professional that possesses expertise in a clinical domain and provides advice on the diagnosis and management of individuals with conditions related to that domain. 900000000000017005 +3687203014 20180731 1 900000000000207008 768840005 en 900000000000550004 A single anterior tooth pair is in crossbite and is also impinging on the soft tissue, resulting in destruction of the oral mucosa adjacent to one or both teeth involved. 900000000000017005 +3687215013 20180731 1 900000000000207008 768843007 en 900000000000550004 A disease associated with faster than normal growth before and after birth, intellectual disability, characteristic facial features including round face, thick horizontal eyebrows, narrowed palpebral fissures. Macrocephaly may also be present along with features of autism spectrum disorder. Other associated signs include kyphoscoliosis, heart defects, pes planus, hypotonia, hypermobile joints depression, anxiety, obsessive-compulsive disorder. Caused by mutation in the DNMT3A gene, which provides instructions for making the enzyme DNA methyltransferase 3 alpha. This condition is inherited in an autosomal dominant pattern, however some cases result from new mutations in the gene and occur in people with no history of the disorder in their family. 900000000000017005 +3687227011 20180731 1 900000000000207008 768846004 en 900000000000550004 An inherited disease with usual onset of signs in infancy. The severity of the signs and symptoms varies widely among people with the condition. Typical features include delayed development of speech and motor skills, hypotonia, choreoathetosis refractory seizures, problems with liver function, optic atrophy, alacrima. Caused by mutations in the NGLY1 gene. The enzyme produced from this gene N-glycanase 1, helps cells remove abnormal proteins. The gene mutation results in a severe reduction or absence of the enzyme function. Inherited in an autosomal recessive pattern. 900000000000017005 +3687310017 20180731 1 900000000000207008 3430008 en 900000000000550004 An allied health professional who administers radiation in various forms using varying methods of administration. 900000000000017005 +3687311018 20180731 1 900000000000207008 769036006 en 900000000000550004 Benign condition with purple-coloured patches, plaques or nodules, usually found bilaterally on the extensor surfaces of the lower extremities and associated with chronic venous insufficiency and arteriovenous malformations. A reactive angiodysplasia of preexisting cutaneous blood vessels that resembles malignant conditions like Kaposi's sarcoma and requires histopathological examination for its diagnosis and differentiation. 900000000000017005 +3687505015 20180731 1 900000000000207008 768924008 en 900000000000550004 Serous cystadenoma of childhood is a benign epithelial ovarian neoplasm with characteristics of a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation. 900000000000017005 +3687506019 20180731 1 900000000000207008 768925009 en 900000000000550004 Mucinous cystadenoma of childhood is a benign epithelial ovarian neoplasm with characteristics of a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation. 900000000000017005 +3687511017 20180731 1 900000000000207008 768926005 en 900000000000550004 A rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (for example in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization. 900000000000017005 +3687512012 20180731 1 900000000000207008 768926005 en 900000000000550004 A rare tumour of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognisable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (for example in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localisation. 900000000000017005 +3687516010 20180731 1 900000000000207008 768927001 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 1. The syndrome has a highly variable phenotype and principle characteristics of intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (for example ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. 900000000000017005 +3687524017 20180731 1 900000000000207008 768929003 en 900000000000550004 A rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8. The disease has a highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (for example mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. 900000000000017005 +3687535010 20180731 1 900000000000207008 768933005 en 900000000000550004 A rare otorhinolaryngologic disease with characteristics of the unilateral or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms. 900000000000017005 +3687538012 20180731 1 900000000000207008 768934004 en 900000000000550004 A rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare. 900000000000017005 +3687539016 20180731 1 900000000000207008 768934004 en 900000000000550004 A rare tumour of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localised, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare. 900000000000017005 +3687543017 20180731 1 900000000000207008 768935003 en 900000000000550004 A rare primary bone dysplasia with characteristics of small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. 900000000000017005 +3687549018 20180731 1 900000000000207008 768937006 en 900000000000550004 An extremely rare, benign or malignant germ cell tumour characterised, clinically, by a teratoma presenting in an extragonadal location (for example retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and histologically by displaying well-differentiated structures as well as immature elements. Presenting symptoms are variable depending on size and location of tumour. 900000000000017005 +3687550018 20180731 1 900000000000207008 768937006 en 900000000000550004 An extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (for example retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and histologically by displaying well-differentiated structures as well as immature elements. Presenting symptoms are variable depending on size and location of tumor. 900000000000017005 +3687563012 20180731 1 900000000000207008 768939009 en 900000000000550004 A genetic non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. 900000000000017005 +3687603019 20180731 1 900000000000207008 768946000 en 900000000000550004 An acute and severe skin disease with clinical and histological features of destruction and detachment of the skin epithelium and mucous membranes. Onset may occur at any age, but the risk increases after 40 years. Three subforms have been described according to the percentage of the body surface area affected: Stevens-Johnson syndrome (less than 10%), Lyell syndrome (greater than 30%) and an intermediate form (10-29%). The initial manifestations are nonspecific: a seemingly banal rash, fever, and a burning sensation involving the eyes, mouth and genitalia. The rash rapidly progresses to become vesicular and bullous on the face and body. High fever is a constant feature. Two thirds of cases are triggered by a drug allergy. In rare cases, the disease is associated with infections or bone marrow transplantation. The remaining 25-30% of cases are classed as idiopathic. The prognosis for patients with extensive forms is poor. 900000000000017005 +3687644018 20180731 1 900000000000207008 768962006 en 900000000000550004 An extended form of toxic epidermal necrolysis with characteristics of destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area. Lyell syndrome can be triggered by a drug allergy and, exceptionally, by infections or bone marrow transplantation. In 25 to 30% of cases, the cause is unclear. Patients should be admitted to an intensive care or burns unit as soon as the diagnosis is suspected. Prognosis is poor (mortality rate: 20-25%). 900000000000017005 +3687651010 20180731 1 900000000000207008 768966009 en 900000000000550004 Collection of the actual tip of the device (e.g. central line tip) cut off with scissors and put in a specimen bottle. 900000000000017005 +3687718014 20180731 1 900000000000207008 73442001 en 900000000000550004 Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis with characteristics of destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. The disease can be triggered by a drug allergy and, more rarely, by infections or bone marrow transplantation. In 25 to 30% of cases, the cause is unclear. 900000000000017005 +3687722016 20180731 1 900000000000207008 159004009 en 900000000000550004 A registered or licensed practical nurse who provides education to other clinicians and/or patients. 900000000000017005 +3687729013 20180731 1 900000000000207008 309294001 en 900000000000550004 A medical practitioner whose practice is limited to the care of patients in a hospital emergency department. 900000000000017005 +3687933012 20180731 1 900000000000207008 769044006 en 900000000000550004 Tooth requires a dental crown due to weakened and limited natural tooth remaining. 900000000000017005 +3688017014 20180731 1 900000000000207008 769065000 en 900000000000550004 A disorder of the nervous system white matter and myelin resulting in hypomyelination and in some cases also demyelination. There are different combinations of signs and symptoms of the disease, at the most severe end of the spectrum is hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). At the mildest end is isolated hypomyelination. The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. The disease is caused by mutations in the TUBB4A gene, which provides instructions for making a protein called beta-tubulin. Inherited in an autosomal dominant pattern however most cases are the result of de novo mutations in the gene. 900000000000017005 +3688242011 20180731 1 900000000000207008 768822006 en 900000000000550004 A person responsible for coordinating all stages of the patient rehabilitation process. 900000000000017005 +3688840014 20180731 1 900000000000207008 36364006 en 900000000000550004 Post-ganglionic parasympathetic nerves that facilitate penile erection. 900000000000017005 +3689109010 20180731 1 900000000000207008 26701009 en 900000000000550004 Sympathetic and parasympathetic ganglia within inferior hypogastric plexus. 900000000000017005 +3689149019 20180731 1 900000000000207008 89890002 en 900000000000550004 Lymphatic system consists of lymph nodes and lymphatic vessels. 900000000000017005 +3689153017 20180731 1 900000000000207008 122490001 en 900000000000550004 Lymphoid system consists of lymph nodes, lymphatic vessels and organs that contain lymphoid tissue, e.g. thymus, spleen. 900000000000017005 +3690766015 20180731 1 900000000000207008 769158005 en 900000000000550004 Lower anterior facial height is proportionally greater than normal when compared with upper anterior facial height. 900000000000017005 +3690768019 20180731 1 900000000000207008 769159002 en 900000000000550004 Lower anterior facial height is proportionally less than normal when compared with upper anterior facial height. 900000000000017005 +3690995015 20180731 1 900000000000207008 769161006 en 900000000000550004 Vertical bone deficiency in the posterior region of alveolar ridge, which is a contributing factor to the development of a short vertical dimension of the face. 900000000000017005 +3691026015 20180731 1 900000000000207008 769160007 en 900000000000550004 Vertical bone excess in the posterior region of the alveolar ridge, which is a contributing factor to the development of a long vertical dimension of the face. Over-eruption of posterior teeth is observed. 900000000000017005 +3694458019 20180731 1 900000000000207008 204312002 en 900000000000550004 The more common indirect type of communication where the flow of blood is from the left ventricle through a ventricular septal defect into the right ventricle and then through a defect in the tricuspid valve into the right atrium. 900000000000017005 +3695373014 20180731 1 900000000000207008 769256002 en 900000000000550004 An imbalance between proinflammatory and anti-inflammatory responses to an infection. 900000000000017005 +3696819015 20180731 1 900000000000012004 766952006 en 900000000000550004 This attribute represents the number of different non-modified base of active ingredients in a medicinal product. 900000000000017005 +3696823011 20180731 1 900000000000012004 766954007 en 900000000000550004 This attribute represents the number of different base and modification pairs in a medicinal product. If both bases and their modifications are the same, it is counted as 1 pair. The count is increased when the bases are the same but their modifications are different, for two or more pairs. Any further modification should not be counted as part of the pair. 900000000000017005 +3698470014 20180731 1 900000000000207008 770101002 en 900000000000550004 An intended site for a dose form that is for administration to the trachea. 900000000000017005 +3700215012 20180731 1 900000000000207008 438351000124107 en 900000000000550004 Increase in vitamin E content of the diet compared to the assessed baseline intake of vitamin E for the individual. 900000000000017005 +3700216013 20180731 1 900000000000207008 438311000124106 en 900000000000550004 Increase in vitamin C content of the diet compared to the assessed baseline intake of vitamin C for the individual. 900000000000017005 +3700217016 20180731 1 900000000000207008 438301000124108 en 900000000000550004 Decrease in vitamin B6 content of the diet compared to the assessed baseline intake of vitamin B6 for the individual. 900000000000017005 +3700218014 20180731 1 900000000000207008 438291000124107 en 900000000000550004 Increase in vitamin B6 content of the diet compared to the assessed baseline intake of vitamin B6 for the individual. 900000000000017005 +3700219018 20180731 1 900000000000207008 438281000124109 en 900000000000550004 Decrease in vitamin B12 content of the diet compared to the assessed baseline intake of vitamin B12 for the individual. 900000000000017005 +3700223014 20180731 1 900000000000207008 438271000124106 en 900000000000550004 Increase in vitamin B12 content of the diet. Treatment for prevention of megaloblastic anaemia. 900000000000017005 +3700224015 20180731 1 900000000000207008 438271000124106 en 900000000000550004 Increase in vitamin B12 content of the diet. Treatment for prevention of megaloblastic anemia. 900000000000017005 +3700225019 20180731 1 900000000000207008 435611000124105 en 900000000000550004 Providing a combination of vitamins and minerals based on suboptimal food/fluid intake, iatrogenic deficiency or medical diagnosis to meet physiological requirements. 900000000000017005 +3700314013 20190131 1 900000000000207008 702360007 en 900000000000550004 A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive. 900000000000017005 +3700696019 20190131 1 900000000000207008 770401007 en 900000000000550004 A rare partial autosomal monosomy with characteristics of mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, attention deficit hyperactivity disorder, autism. Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity and clubfoot, feeding difficulties, failure to thrive. 900000000000017005 +3700700010 20190131 1 900000000000207008 770402000 en 900000000000550004 A very rare aggressive form of systemic mastocytosis characterised by abnormal growth and proliferation of neoplastic mast cells in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (for example hot flushes, fever, malaise, diarrhoea, tachycardia), weight loss, anorexia, hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by haemorrhage), ascites and portal hypertension have also been reported. 900000000000017005 +3700700010 20200731 0 900000000000207008 770402000 en 900000000000550004 A very rare aggressive form of systemic mastocytosis characterised by abnormal growth and proliferation of neoplastic mast cells in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (for example hot flushes, fever, malaise, diarrhoea, tachycardia), weight loss, anorexia, hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by haemorrhage), ascites and portal hypertension have also been reported. 900000000000017005 +3700701014 20190131 1 900000000000207008 770402000 en 900000000000550004 A very rare aggressive form of systemic mastocytosis characterized by abnormal growth and proliferation of neoplastic mast cells in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (for example hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia, hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported. 900000000000017005 +3700701014 20200731 0 900000000000207008 770402000 en 900000000000550004 A very rare aggressive form of systemic mastocytosis characterized by abnormal growth and proliferation of neoplastic mast cells in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (for example hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia, hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported. 900000000000017005 +3700713016 20190131 1 900000000000207008 770404004 en 900000000000550004 A rare neuro-ophthalmological disease with characteristics of severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits. 900000000000017005 +3700717015 20190131 1 900000000000207008 770405003 en 900000000000550004 Rare epilepsy with characteristics of seizures with viscerosensory or experiential auras, onset in adolescence or early adulthood and good prognosis. 900000000000017005 +3700720011 20190131 1 900000000000207008 770406002 en 900000000000550004 A rare genetic congenital limb malformation disorder with characteristics of hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness. There is evidence this disease is caused by mutations in the bone morphogenetic protein antagonist Noggin (NOG). 900000000000017005 +3700727014 20190131 1 900000000000207008 770407006 en 900000000000550004 A rare genetic congenital secondary polycythaemia disorder characterised by increased haemoglobin, haematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnoea and/or plethora. Patients present an increased risk of haemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25. 900000000000017005 +3700728016 20190131 1 900000000000207008 770407006 en 900000000000550004 A rare genetic congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25. 900000000000017005 +3700733017 20190131 1 900000000000207008 770408001 en 900000000000550004 A rare neurological disease with characteristics of congenital narrowing of the bony anatomy of the cervical spinal canal. This disorder predisposes the individual to symptomatic neural compression with manifestations including cramps, paresthesia, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances. 900000000000017005 +3700736013 20190131 1 900000000000207008 770409009 en 900000000000550004 A rare genetic congenital limb malformation disorder with characteristics of unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994. 900000000000017005 +3700741017 20190131 1 900000000000207008 770410004 en 900000000000550004 A rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and ophthalmological anomalies were also reported. 900000000000017005 +3700743019 20190131 1 900000000000207008 770411000 en 900000000000550004 A rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). 900000000000017005 +3700753018 20190131 1 900000000000207008 770414008 en 900000000000550004 An inherited disease characterized by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomerular basal membrane. Ocular abnormalities are present a third of cases. Sensorineural deafness is linked to cochlear involvement. Mutations in the COL4A5 gene localized on chromosome Xq22 and coding for the alpha 5 chain of type IV collagen are responsible for the most frequent form of the disease. Mutations in COL4A3 and COL4A4 genes, which map to chromosome 2, are responsible for the less frequent autosomal recessive form. A few rare cases of autosomal dominant forms have been reported. 900000000000017005 +3700754012 20190131 1 900000000000207008 770414008 en 900000000000550004 An inherited disease characterised by glomerular nephropathy with haematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomerular basal membrane. Ocular abnormalities are present a third of cases. Sensorineural deafness is linked to cochlear involvement. Mutations in the COL4A5 gene localised on chromosome Xq22 and coding for the alpha 5 chain of type IV collagen are responsible for the most frequent form of the disease. Mutations in COL4A3 and COL4A4 genes, which map to chromosome 2, are responsible for the less frequent autosomal recessive form. A few rare cases of autosomal dominant forms have been reported. 900000000000017005 +3700826010 20190131 1 900000000000207008 770430000 en 900000000000550004 A rare neuromuscular disease with characteristics of progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. 900000000000017005 +3700831012 20190131 1 900000000000207008 770431001 en 900000000000550004 A rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. 900000000000017005 +3700832017 20190131 1 900000000000207008 770431001 en 900000000000550004 A rare intellectual disability and epilepsy syndrome characterised by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalised seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. 900000000000017005 +3700836019 20190131 1 900000000000207008 770432008 en 900000000000550004 A rare cardiac malformation with characteristics of the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure. 900000000000017005 +3700844019 20190131 1 900000000000207008 770433003 en 900000000000550004 A rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress. 900000000000017005 +3700845018 20190131 1 900000000000207008 770433003 en 900000000000550004 A rare cardiac malformation characterised by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnoea or respiratory distress. 900000000000017005 +3700848016 20190131 1 900000000000207008 770434009 en 900000000000550004 A rare retinal dystrophy with characteristics of diffuse bilateral white-yellow fleck-like lesions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits. 900000000000017005 +3700854015 20190131 1 900000000000207008 770435005 en 900000000000550004 A rare genetic aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (such as aortic dilation, aortic aneurysm and/or dissection). 900000000000017005 +3700858017 20190131 1 900000000000207008 770436006 en 900000000000550004 A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. 900000000000017005 +3700859013 20190131 1 900000000000207008 770436006 en 900000000000550004 A rare breast malformation disorder characterised by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperaemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. 900000000000017005 +3700861016 20190131 1 900000000000207008 770437002 en 900000000000550004 A rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported. 900000000000017005 +3700863018 20190131 1 900000000000207008 770437002 en 900000000000550004 A rare form of patterned dystrophy of the retinal pigment epithelium characterised by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularisation has been reported. 900000000000017005 +3700868010 20190131 1 900000000000207008 770438007 en 900000000000550004 A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (including microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. 900000000000017005 +3700869019 20190131 1 900000000000207008 770438007 en 900000000000550004 A rare neurologic disorder characterised by profound developmental delay, facial dysmorphism (including microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocoele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. 900000000000017005 +3701196014 20190131 1 900000000000207008 770542008 en 900000000000550004 A rare gonosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia. 900000000000017005 +3701198010 20190131 1 900000000000207008 232373003 en 900000000000550004 An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait. 900000000000017005 +3701256017 20190131 1 900000000000207008 770595006 en 900000000000550004 A rare chromosomal anomaly syndrome with a highly variable phenotype and principle characteristics of postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (including epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (for example pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, cafe-au-lait spots and epilepsy have also been reported. 900000000000017005 +3701257014 20190131 1 900000000000207008 770603000 en 900000000000550004 A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses. 900000000000017005 +3701258016 20190131 1 900000000000207008 770604006 en 900000000000550004 A rare genetic syndrome with cerebellar malformation as a major feature. Characteristics included cerebellar vermis hypo or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, and ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. 900000000000017005 +3701259012 20190131 1 900000000000207008 723687004 en 900000000000550004 A diverse group of techniques designed to remove impediments to lymphatic circulation and promote and augment the flow of interstitial fluid and lymph. 900000000000017005 +3701260019 20190131 1 900000000000207008 416553003 en 900000000000550004 A term used to describe the impact of intrathoracic pressure changes on lymphatic flow. This was the name originally given to the thoracic pump technique before the more extensive physiologic effects of the technique were recognized. 900000000000017005 +3701260019 20200131 0 900000000000207008 416553003 en 900000000000550004 A term used to describe the impact of intrathoracic pressure changes on lymphatic flow. This was the name originally given to the thoracic pump technique before the more extensive physiologic effects of the technique were recognized. 900000000000017005 +3701265012 20190131 1 900000000000207008 770558006 en 900000000000550004 A rare genetic non-dystrophic myofibrillar myopathy disorder with characteristics of late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later of the proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. Caused by heterozygous mutation in the ZASP gene on chromosome 10. 900000000000017005 +3701269018 20190131 1 900000000000207008 770559003 en 900000000000550004 A rare malignant mesenchymal tumor of smooth muscle origin characterized histologically by spindle and/or pleomorphic cells, often forming disorganized fascicles, with tumor cell necrosis. Macroscopic characteristics are a large soft usually intramural mass with irregular borders and necrotic and hemorrhagic areas located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and hematuria may also be associated. 900000000000017005 +3701270017 20190131 1 900000000000207008 770559003 en 900000000000550004 A rare malignant mesenchymal tumour of smooth muscle origin characterised histologically by spindle and/or pleomorphic cells, often forming disorganised fascicles, with tumour cell necrosis. Macroscopic characteristics are a large soft usually intramural mass with irregular borders and necrotic and haemorrhagic areas located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and haematuria may also be associated. 900000000000017005 +3701276011 20190131 1 900000000000207008 770560008 en 900000000000550004 A cerebral malformation with epilepsy with predominant characteristics of posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Caused by heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13. 900000000000017005 +3701283016 20190131 1 900000000000207008 770561007 en 900000000000550004 A rare developmental defect during embryogenesis with characteristics of severe, unilateral or bilateral lower limb malformations (including tibial hypoplasia, split and rocker bottom-shaped feet, and oligo syndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (for example short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977. 900000000000017005 +3701286012 20190131 1 900000000000207008 770562000 en 900000000000550004 A uniparental disomy of chromosome 1 of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the mother is a carrier. 900000000000017005 +3701289017 20190131 1 900000000000207008 770563005 en 900000000000550004 A uniparental disomy of chromosome 13 of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the mother is a carrier. 900000000000017005 +3701293011 20190131 1 900000000000207008 770564004 en 900000000000550004 A rare genetic developmental defect during embryogenesis syndrome with characteristics of severe intellectual disability, distinct dysmorphic facial features (including triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism to a milder phenotype with less severe growth restriction. Other reported features include skeletal findings (for example scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and anxiety. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the LARP7 gene on chromosome 4q25. 900000000000017005 +3701296015 20190131 1 900000000000207008 770565003 en 900000000000550004 A rare genetic developmental defect during embryogenesis with characteristics of severe pre and postnatal growth retardation, severe microcephaly, severe developmental delay and intellectual disability, severe adult short stature and facial dysmorphism (including hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. 900000000000017005 +3701301015 20190131 1 900000000000207008 770566002 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 13. The syndrome has characteristics of developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (including micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. 900000000000017005 +3701306013 20190131 1 900000000000207008 770567006 en 900000000000550004 A rare premature aging syndrome with characteristics of pre and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanelle and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated. 900000000000017005 +3701466010 20190131 1 900000000000207008 770591002 en 900000000000550004 A rare non-syndromic uterovaginal malformation with characteristics of a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated. 900000000000017005 +3701477016 20190131 1 900000000000207008 770592009 en 900000000000550004 A rare gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic esophagitis (symptomatic esophageal dysfunction associated with eosinophil-predominant mucose infiltrate), which completely remits upon proton pump inhibitor therapy. 900000000000017005 +3701478014 20190131 1 900000000000207008 770592009 en 900000000000550004 A rare gastroenterologic disease characterised by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate), which completely remits upon proton pump inhibitor therapy. 900000000000017005 +3701483018 20190131 1 900000000000207008 770593004 en 900000000000550004 A rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepithelial lymphocytes. 900000000000017005 +3701484012 20190131 1 900000000000207008 770593004 en 900000000000550004 A rare intestinal disease characterised by persistent or recurrent symptoms and signs of confirmed coeliac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepithelial lymphocytes. 900000000000017005 +3701488010 20190131 1 900000000000207008 770594005 en 900000000000550004 A rare, genetic macular dystrophy disorder characterised by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1). 900000000000017005 +3701488010 20210930 0 900000000000207008 770594005 en 900000000000550004 A rare, genetic macular dystrophy disorder characterised by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1). 900000000000017005 +3701489019 20190131 1 900000000000207008 770594005 en 900000000000550004 A rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1). 900000000000017005 +3701489019 20210930 0 900000000000207008 770594005 en 900000000000550004 A rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1). 900000000000017005 +3701497014 20190131 1 900000000000207008 770596007 en 900000000000550004 A rare acquired neuromuscular disease characterized by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea). 900000000000017005 +3701498016 20190131 1 900000000000207008 770596007 en 900000000000550004 A rare acquired neuromuscular disease characterised by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically silent muscle rippling with myalgia, in combination with generalised myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnoea). 900000000000017005 +3701514015 20190131 1 900000000000207008 770601003 en 900000000000550004 A rare highly aggressive poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported. 900000000000017005 +3701515019 20190131 1 900000000000207008 770601003 en 900000000000550004 A rare highly aggressive poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcaemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcaemia. Occasional familial cases have been reported. 900000000000017005 +3701532015 20190131 1 900000000000207008 416846000 en 900000000000550004 Movement in a coronal (frontal) plane about an anterior-posterior (x) axis. 900000000000017005 +3701538016 20190131 1 900000000000207008 417643003 en 900000000000550004 Any somatic dysfunction resulting in abnormal ligamentous tension or strain. 900000000000017005 +3701548019 20190131 1 900000000000207008 416521007 en 900000000000550004 A technique in which the double layer of peritoneum that invests the intestines and its associated vascular, neural and lymphatic structures is relieved of tension from the attachments to the posterior wall of the abdomen which include the root of the mesentery, hepatic and splenic flexures and ascending and descending colon. 900000000000017005 +3701561019 20190131 1 900000000000207008 417380003 en 900000000000550004 The ideal physiologic state of harmonious equilibrium in the tension of the dura mater of the brain and spinal cord. 900000000000017005 +3701562014 20190131 1 900000000000207008 416553003 en 900000000000550004 A term used to describe the impact of intrathoracic pressure changes on lymphatic flow. This was the name originally given to the thoracic pump technique before the more extensive physiologic effects of the technique were recognised. 900000000000017005 +3701562014 20200131 0 900000000000207008 416553003 en 900000000000550004 A term used to describe the impact of intrathoracic pressure changes on lymphatic flow. This was the name originally given to the thoracic pump technique before the more extensive physiologic effects of the technique were recognised. 900000000000017005 +3701586011 20190131 1 900000000000207008 770397004 en 900000000000550004 Burn involving skin, subcutaneous tissues, and underlying structures of finger. 900000000000017005 +3701662018 20190131 1 900000000000207008 770622009 en 900000000000550004 A rare infantile epilepsy syndrome characterised by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralising signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region. 900000000000017005 +3701663011 20190131 1 900000000000207008 770622009 en 900000000000550004 A rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region. 900000000000017005 +3701668019 20190131 1 900000000000207008 770623004 en 900000000000550004 A rare genetic neurological disorder with characteristics of visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes. 900000000000017005 +3701672015 20190131 1 900000000000207008 230388003 en 900000000000550004 A rare genetic neurological disorder with characteristics of childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculo clonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare. 900000000000017005 +3701674019 20190131 1 900000000000207008 230387008 en 900000000000550004 A rare genetic neurological disorder characterised by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalised convulsion. Autonomic status epilepticus may be the only clinical event in some cases. 900000000000017005 +3701675018 20190131 1 900000000000207008 230387008 en 900000000000550004 A rare genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases. 900000000000017005 +3701679012 20190131 1 900000000000207008 770624005 en 900000000000550004 A rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apnea, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal. 900000000000017005 +3701681014 20190131 1 900000000000207008 770624005 en 900000000000550004 A rare infantile epilepsy syndrome characterised by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apnoea, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal. 900000000000017005 +3701685017 20190131 1 900000000000207008 770625006 en 900000000000550004 An extremely rare combined immunodeficiency disorder characterised by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral oedema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). 900000000000017005 +3701686016 20190131 1 900000000000207008 770625006 en 900000000000550004 An extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). 900000000000017005 +3701690019 20190131 1 900000000000207008 770626007 en 900000000000550004 A rare neurological disorder with characteristics of relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported. 900000000000017005 +3701694011 20190131 1 900000000000207008 770627003 en 900000000000550004 A rare genetic skeletal muscle disease with characteristics of abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure. Caused by heterozygous, homozygous, or compound heterozygous mutation in the desmin gene (DES) on chromosome 2q35. 900000000000017005 +3701696013 20190131 1 900000000000207008 770628008 en 900000000000550004 A rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial hemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis. 900000000000017005 +3701697016 20190131 1 900000000000207008 770628008 en 900000000000550004 A rare tumour of meninges arising from leptomeningeal melanocytes, characterised by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis. 900000000000017005 +3701702013 20190131 1 900000000000207008 770629000 en 900000000000550004 A rare chromosomal anomaly syndrome with characteristics of mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. 900000000000017005 +3701706011 20190131 1 900000000000207008 770630005 en 900000000000550004 A rare neuromuscular disease with characteristics of slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone. 900000000000017005 +3701709016 20190131 1 900000000000207008 770631009 en 900000000000550004 A rare thyroid disease with characteristics of a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life. 900000000000017005 +3701761016 20190131 1 900000000000207008 370481004 en 900000000000550004 A congenital anomaly of a vertebra in which it develops characteristic(s) of the adjoining structure or region. 900000000000017005 +3701771019 20190131 1 900000000000207008 770663003 en 900000000000550004 An extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, with characteristics of intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophrys, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). 900000000000017005 +3701772014 20190131 1 900000000000207008 770665005 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 10. The disease has a highly variable phenotype with principle characteristics of developmental delay (usually of language and speech), variable cognitive impairment, autism spectrum disorder and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. 900000000000017005 +3701773016 20190131 1 900000000000207008 770666006 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 10. Characteristics include mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (including microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (for example iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (for example septal ventricular defect), anal atresia, and cryptorchidism. 900000000000017005 +3701878019 20190131 1 900000000000207008 770643005 en 900000000000550004 A rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or asymmetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioural arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioural changes and memory deficits. 900000000000017005 +3701879010 20190131 1 900000000000207008 770643005 en 900000000000550004 A rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or asymmetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits. 900000000000017005 +3701880013 20190131 1 900000000000207008 770655004 en 900000000000550004 A rare congenital genetic syndrome with a central nervous system malformation as a major feature. The disorder has characteristics of microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings is reported and there have been no further descriptions in the literature since 1986. 900000000000017005 +3701881012 20190131 1 900000000000207008 770655004 en 900000000000550004 A rare congenital genetic syndrome with a central nervous system malformation as a major feature. The disorder has characteristics of microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatraemia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings is reported and there have been no further descriptions in the literature since 1986. 900000000000017005 +3701915010 20190131 1 900000000000207008 770664009 en 900000000000550004 A rare neurologic disease characterised by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnoea or obstructive apnoea-hypopnoea), gastrooesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported. 900000000000017005 +3701916011 20190131 1 900000000000207008 770664009 en 900000000000550004 A rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported. 900000000000017005 +3701931019 20190131 1 900000000000207008 770667002 en 900000000000550004 A rare genetic retinal dystrophy disease with characteristics of bilateral progressive decline of visual acuity due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. There is evidence the disease is caused by heterozygous mutation in the RP1L1 gene on chromosome 8p23. 900000000000017005 +3701934010 20190131 1 900000000000207008 770668007 en 900000000000550004 Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. 900000000000017005 +3701937015 20190131 1 900000000000207008 770669004 en 900000000000550004 Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. 900000000000017005 +3701940015 20190131 1 900000000000207008 770670003 en 900000000000550004 Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin with characteristics of intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. 900000000000017005 +3702079014 20190131 1 900000000000207008 770678005 en 900000000000550004 A rare genetic neurological disease characterised by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb oedema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16. 900000000000017005 +3702081011 20190131 1 900000000000207008 770678005 en 900000000000550004 A rare genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16. 900000000000017005 +3702082016 20190131 1 900000000000207008 442511009 en 900000000000550004 A rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. Onset occurs during the first few weeks or months of life with hypotonia, poor feeding, drowsiness and abnormal movements. Infantile spasms, hypsarrhythmia and seizures appear during the first year of life. Visual loss, abnormal eye movements and optic atrophy also occur during infancy. Transmission appears to be autosomal recessive. A significant number of patients have been described who displayed most of the diagnostic criteria and features of PEHO syndrome, but did not appear to have cerebral atrophy on MRI, lacked the ophthalmologic signs and showed no reduction in CSF IGF-1 levels. This group of patients was diagnosed with PEHO-like syndrome. The prognosis is poor and most patients die before 15 years of age, mainly as a result of pneumonia or aspiration. 900000000000017005 +3702086018 20190131 1 900000000000207008 770679002 en 900000000000550004 A rare genetic syndromic intellectual disability with characteristics of intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. 900000000000017005 +3702089013 20190131 1 900000000000207008 770680004 en 900000000000550004 A rare genetic, endocrine disease with manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities. 900000000000017005 +3702096010 20190131 1 900000000000207008 770681000 en 900000000000550004 A rare genetic developmental defect during embryogenesis syndrome with characteristics of Robin sequence (severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986. 900000000000017005 +3702098011 20190131 1 900000000000207008 770682007 en 900000000000550004 A rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette (or pseudorosette) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum. 900000000000017005 +3702101010 20190131 1 900000000000207008 770682007 en 900000000000550004 A rare mixed neuronal-glial tumour characterised by the presence of uniform, rosette (or pseudorosette) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilloedema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumour usually arises in the midline, involving the fourth ventricle or the cerebellum. 900000000000017005 +3702105018 20190131 1 900000000000207008 770683002 en 900000000000550004 A rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of cerebrospinal fluid circulation (for example due to basal arachnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (for example due to trauma, radiation necrosis, spinal abscess), spinal dysraphism or intramedullary neoplasm. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings. 900000000000017005 +3702108016 20190131 1 900000000000207008 770684008 en 900000000000550004 Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare primary malignant liver and biliary tract epithelial neoplasm originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia. 900000000000017005 +3702109012 20190131 1 900000000000207008 770684008 en 900000000000550004 Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare primary malignant liver and biliary tract epithelial neoplasm originating in the intrahepatic bile duct epithelium histologically characterised by the presence of keratinisation and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia. 900000000000017005 +3702112010 20190131 1 900000000000207008 770685009 en 900000000000550004 An extremely rare epithelial neoplasm of the liver and biliary tract which presents with heterogenous histological findings and not yet fully defined clinicopathological characteristics. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, high metastatic potential and a rapid clinical course are typically associated. 900000000000017005 +3702117016 20190131 1 900000000000207008 770686005 en 900000000000550004 An extremely rare malignant vaginal neoplasm deriving from primordial germ cells in the vagina, with typical characteristics of painless bloody vaginal discharge and a polypoid mass which protrudes from the vagina. Serum alpha-fetoprotein is usually elevated and rapid progression, local aggression and early metastasis to liver and lungs is reported. 900000000000017005 +3702122016 20190131 1 900000000000207008 770687001 en 900000000000550004 A rare genetic systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of auto inflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. 900000000000017005 +3702123014 20190131 1 900000000000207008 770687001 en 900000000000550004 A rare genetic systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of auto inflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischaemic or haemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. 900000000000017005 +3702224010 20180731 1 900000000000207008 437411000124102 en 900000000000550004 Increase in the sodium content of diet compared to the assessed baseline intake of sodium for the individual. 900000000000017005 +3702225011 20180731 1 900000000000207008 437291000124108 en 900000000000550004 Increase in copper content of diet compared to the assessed baseline intake of copper for the individual. 900000000000017005 +3702226012 20180731 1 900000000000207008 437391000124102 en 900000000000550004 Increase in potassium content of diet compared to the assessed baseline intake of potassium for the individual. 900000000000017005 +3702227015 20180731 1 900000000000207008 417704008 en 900000000000550004 Any cranial somatic dysfunction resulting in abnormal dural membrane tension. 900000000000017005 +3702228013 20180731 1 900000000000207008 769170009 en 900000000000550004 An arch formed by the medial margin of the cartilage of false ribs and one true rib (seventh rib to the tenth rib). 900000000000017005 +3702229017 20180731 1 900000000000207008 435741000124103 en 900000000000550004 Foods and liquids that are transparent and liquid at body temperature. 900000000000017005 +3702230010 20180731 1 900000000000207008 438001000124106 en 900000000000550004 Increase or decrease in biotin content of the diet. Treatment for conditions resulting from inadequate or excessive biotin intake. 900000000000017005 +3702231014 20180731 1 900000000000207008 438021000124101 en 900000000000550004 Increase or decrease in niacin content of the diet. Treatment for prevention of pellagra. 900000000000017005 +3702232019 20180731 1 900000000000207008 438031000124103 en 900000000000550004 Increase or decrease in pantothenic acid content of the diet. 900000000000017005 +3702233012 20180731 1 900000000000207008 438041000124108 en 900000000000550004 Increase or decrease in riboflavin content of the diet. 900000000000017005 +3702234018 20180731 1 900000000000207008 439121000124106 en 900000000000550004 Replace normal consistency foods with those that are blended, whipped or mashed to a "pudding-like" texture. Treatment for chewing and swallowing problems. 900000000000017005 +3702234018 20210930 0 900000000000207008 439121000124106 en 900000000000550004 Replace normal consistency foods with those that are blended, whipped or mashed to a "pudding-like" texture. Treatment for chewing and swallowing problems. 900000000000017005 +3702237013 20190131 1 900000000000207008 770719004 en 900000000000550004 A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3. The syndrome has characteristics of mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. 900000000000017005 +3702241012 20190131 1 900000000000207008 770720005 en 900000000000550004 A rare complex subtype of hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (such as clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (for example nystagmus) and distal amyotrophy in the upper and lower limbs. Caused by homozygous mutation in the KIF1C gene on chromosome 17p13. 900000000000017005 +3702244016 20190131 1 900000000000207008 770721009 en 900000000000550004 A rare genetic syndromic intellectual disability disease with characteristics of progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. Caused by homozygous mutation in the TAF2 gene on chromosome 8q23. 900000000000017005 +3702248018 20190131 1 900000000000207008 770722002 en 900000000000550004 A rare hereditary non-dystrophic myopathy with characteristics of proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported and include ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. There is evidence the disease is caused by homozygous mutation in the MICU1 gene on chromosome 10q22. 900000000000017005 +3702253011 20190131 1 900000000000207008 770723007 en 900000000000550004 A rare hereditary syndromic intellectual disability with characteristics of developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oro motor dysfunction, seizures and autism spectrum disorder. Dysmorphic facial features are variable and nonspecific. Caused by heterozygous mutation in the NR2F1 gene on chromosome 5q15. 900000000000017005 +3702256015 20190131 1 900000000000207008 770724001 en 900000000000550004 A very rare complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (crawling, walking) and has characteristics of lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, and scoliosis and cerebellar abnormalities. 900000000000017005 +3702259010 20190131 1 900000000000207008 770725000 en 900000000000550004 A rare central nervous system malformation syndrome with characteristics of progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. This phenotype is caused by homozygous mutation in the MED17 gene on chromosome 11. 900000000000017005 +3702266011 20190131 1 900000000000207008 770726004 en 900000000000550004 A rare genetic female infertility disorder with characteristics of the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstruction in the fallopian tubes or defects of the uterus or adnexa. 900000000000017005 +3702274012 20190131 1 900000000000207008 770727008 en 900000000000550004 A rare genetic motor neuron disease with characteristics of progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. The phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. 900000000000017005 +3702281017 20190131 1 900000000000207008 770728003 en 900000000000550004 A syndromic developmental defect of the eye with characteristics of dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. There is evidence the syndrome is caused by homozygous mutation in the ASPH gene on chromosome 8q12. 900000000000017005 +3702448015 20190131 1 900000000000207008 770750002 en 900000000000550004 A rare syndromic obesity due to complex chromosomal rearrangement with characteristics of development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. 900000000000017005 +3702451010 20190131 1 900000000000207008 770751003 en 900000000000550004 A rare genetic neurological with characteristics of intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Caused by hemizygous mutation in the BCAP31 gene on chromosome Xq28. 900000000000017005 +3702467016 20190131 1 900000000000207008 770754006 en 900000000000550004 A rare partial autosomal monosomy with characteristics of weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. 900000000000017005 +3702473015 20190131 1 900000000000207008 770755007 en 900000000000550004 A rare congenital disorder of glycosylation with characteristics of neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. 900000000000017005 +3702476011 20190131 1 900000000000207008 770756008 en 900000000000550004 A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. 900000000000017005 +3702477019 20190131 1 900000000000207008 770756008 en 900000000000550004 A rare partial autosomal monosomy characterised by global development delay, intellectual disability, behavioural abnormalities (hyperactivity, attention deficit and autistic behaviours), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. 900000000000017005 +3702481019 20190131 1 900000000000207008 770757004 en 900000000000550004 A rare genetic neurological disorder with characteristics of parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. There is evidence this disease is caused by hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. 900000000000017005 +3702484010 20190131 1 900000000000207008 770758009 en 900000000000550004 An acute encephalopathy with inflammation-mediated status epilepticus characterised by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioural changes or hallucinations. Brain MRI abnormalities and abnormal findings in cerebrospinal fluid, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences. 900000000000017005 +3702486012 20190131 1 900000000000207008 770758009 en 900000000000550004 An acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in cerebrospinal fluid, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences. 900000000000017005 +3702489017 20190131 1 900000000000207008 770759001 en 900000000000550004 A rare hereditary motor and sensory neuropathy disorder with characteristics of the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. Caused by heterozygous mutation in the GNB4 gene on chromosome 3q26. 900000000000017005 +3702493011 20190131 1 900000000000207008 770760006 en 900000000000550004 A partial autosomal monosomy with clinical characteristics of lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). 900000000000017005 +3702780017 20190131 1 900000000000207008 770784003 en 900000000000550004 A rare genetic disease with characteristics of congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. There is evidence this disease is caused by homozygous mutation in the CACNA1D gene on chromosome 3p21. 900000000000017005 +3702785010 20190131 1 900000000000207008 770785002 en 900000000000550004 A rare primary immunodeficiency with characteristics of increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. 900000000000017005 +3702793010 20190131 1 900000000000207008 770786001 en 900000000000550004 A rare non-dystrophic myopathy with characteristics of slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy. 900000000000017005 +3702796019 20190131 1 900000000000207008 770787005 en 900000000000550004 A rare genetic skeletal muscle disease with characteristics of severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood. 900000000000017005 +3702800013 20190131 1 900000000000207008 770788000 en 900000000000550004 A rare genetic overgrowth or tall stature syndrome with skeletal involvement and characteristics of early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. There is evidence the disease is caused by heterozygous mutation in the NPR2 gene on chromosome 9p13. 900000000000017005 +3702805015 20190131 1 900000000000207008 770790004 en 900000000000550004 A rare genetic neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderate intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behaviour patterns are highly variable and range from sociable and affectionate to autistic behaviour. Caused by homozygous mutation in the HERC2 gene on chromosome 15q13. 900000000000017005 +3702806019 20190131 1 900000000000207008 770790004 en 900000000000550004 A rare genetic neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderate intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior. Caused by homozygous mutation in the HERC2 gene on chromosome 15q13. 900000000000017005 +3702809014 20190131 1 900000000000207008 770791000 en 900000000000550004 A rare genetic vitreoretinal degeneration characterised by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous haemorrhage, cystoid macular oedema, retinal neovascularisation, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness. Caused by heterozygous mutation in the CAPN5 gene on chromosome 11q14. 900000000000017005 +3702810016 20190131 1 900000000000207008 770791000 en 900000000000550004 A rare genetic vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness. Caused by heterozygous mutation in the CAPN5 gene on chromosome 11q14. 900000000000017005 +3702815014 20190131 1 900000000000207008 770792007 en 900000000000550004 A rare genetic distal myopathy disorder with characteristics of middle age-onset distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness has been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. 900000000000017005 +3702823011 20190131 1 900000000000207008 770793002 en 900000000000550004 A rare partial autosomal trisomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). 900000000000017005 +3702824017 20190131 1 900000000000207008 770793002 en 900000000000550004 A rare partial autosomal trisomy characterised by global developmental delay, intellectual disability, autistic behaviour, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). 900000000000017005 +3702828019 20190131 1 900000000000207008 770794008 en 900000000000550004 A rare partial autosomal trisomy characterised by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioural abnormalities. 900000000000017005 +3702829010 20190131 1 900000000000207008 770794008 en 900000000000550004 A rare partial autosomal trisomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. 900000000000017005 +3702992010 20190131 1 900000000000207008 230426003 en 900000000000550004 A mitochondrial encephalomyopathy with characteristics of myoclonic seizures. Patients usually present during adolescence or early adulthood with myoclonic epilepsy, sometimes with neurosensory deafness, optic atrophy, short stature or peripheral neuropathy. The disease is progressive with worsening of the epilepsy and onset of additional symptoms including ataxia, deafness, muscle weakness, and dementia. Caused by mutations in the mitochondrial DNA. 900000000000017005 +3703279012 20190131 1 900000000000207008 770761005 en 900000000000550004 A rare primary osteolysis with characteristics of multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure. 900000000000017005 +3703315010 20190131 1 900000000000207008 770896003 en 900000000000550004 An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF (melanogenesis associated transcription factor) gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer. 900000000000017005 +3703332014 20190131 1 900000000000207008 770898002 en 900000000000550004 A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. Caused by homozygous mutation in the WWOX gene on chromosome 16q23. 900000000000017005 +3703333016 20190131 1 900000000000207008 770898002 en 900000000000550004 A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterised by early-childhood onset of cerebellar ataxia associated with generalised tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. Caused by homozygous mutation in the WWOX gene on chromosome 16q23. 900000000000017005 +3703341016 20190131 1 900000000000207008 770900000 en 900000000000550004 A rare genetic developmental defect during embryogenesis with characteristics of omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. 900000000000017005 +3703345013 20190131 1 900000000000207008 770901001 en 900000000000550004 A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, progressive postnatal multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures, which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. 900000000000017005 +3703350019 20190131 1 900000000000207008 770902008 en 900000000000550004 A rare partial autosomal monosomy with characteristics of language development delay with childhood apraxia of speech, mild intellectual disability, autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernia and microcephaly. 900000000000017005 +3703351015 20190131 1 900000000000207008 770903003 en 900000000000550004 A rare urogenital disease characterized by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset. 900000000000017005 +3703353017 20190131 1 900000000000207008 770903003 en 900000000000550004 A rare urogenital disease characterised by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhoea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset. 900000000000017005 +3703363013 20190131 1 900000000000207008 770905005 en 900000000000550004 A rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression). 900000000000017005 +3703364019 20190131 1 900000000000207008 770905005 en 900000000000550004 A rare chromosomal anomaly characterised by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioural abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviours, depression). 900000000000017005 +3703370013 20190131 1 900000000000207008 770907002 en 900000000000550004 A rare genetic disease with characteristics of polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, and muscular hypotonia. There is increased risk of hepatoblastoma. The syndrome is an imprinting disorder involving genes within the imprinted region of chromosome 14q32. 900000000000017005 +3703372017 20190131 1 900000000000207008 770908007 en 900000000000550004 A rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development may also be associated. 900000000000017005 +3703374016 20190131 1 900000000000207008 770908007 en 900000000000550004 A rare gonosome anomaly syndrome characterised by a eunuchoid habitus with gynaecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynaecomastia, hypogonadism, cryptorchidism, small penis and behavioural abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development may also be associated. 900000000000017005 +3703377011 20190131 1 900000000000207008 770909004 en 900000000000550004 A rare multiple metaphyseal dysplasia disease with characteristics of disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982. 900000000000017005 +3703398011 20190131 1 900000000000207008 770916003 en 900000000000550004 Removal of verruca using an occlusive material such as adhesive tape. 900000000000017005 +3703533015 20190131 1 900000000000207008 770939009 en 900000000000550004 A rare Huntington disease-like syndrome with characteristics of childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. 900000000000017005 +3703535010 20190131 1 900000000000207008 770940006 en 900000000000550004 A rare benign skin tumour disorder characterised by the presence of congenital, large (few centimetres), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed. 900000000000017005 +3703538012 20190131 1 900000000000207008 770940006 en 900000000000550004 A rare benign skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed. 900000000000017005 +3703543017 20190131 1 900000000000207008 770941005 en 900000000000550004 A rare genetic neuro-endocrino-cutaneous disorder with characteristics of highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, microcephaly and kyphoscoliosis. There is evidence the disease is caused by homozygous mutation in the RBM28 gene on chromosome 7q32. 900000000000017005 +3703548014 20190131 1 900000000000207008 770942003 en 900000000000550004 A rare severe congenital neutropenia disorder with characteristics of lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (for example otitis media, pneumonia, sinusitis, urinary tract infections, abscess of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy have been reported in some patients. Caused by homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21. 900000000000017005 +3703552014 20190131 1 900000000000207008 770943008 en 900000000000550004 A rare genetic odontologic disease with characteristics of the clinical, radiographic and histologic features of dentin dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. 900000000000017005 +3703554010 20190131 1 900000000000207008 770944002 en 900000000000550004 A contiguous gene syndrome comprising otodental syndrome (globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities typically including iris and chorioretinal coloboma and sometimes microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. 900000000000017005 +3703559017 20190131 1 900000000000207008 770945001 en 900000000000550004 A rare genetic congenital limb malformation disorder with characteristics of the presence of a single digit on all four extremities. The malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. 900000000000017005 +3703562019 20190131 1 900000000000207008 770946000 en 900000000000550004 A rare genetic congenital limb malformation disorder with characteristics of isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. 900000000000017005 +3703566016 20190131 1 900000000000207008 770947009 en 900000000000550004 A rare primary immunodeficiency disorder with characteristics of autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset severe recurrent bacterial infections. 900000000000017005 +3703569011 20190131 1 900000000000207008 770948004 en 900000000000550004 A rare primary bone dysplasia characterised by upper limbs rhizomelia and other skeletal anomalies (for example short stature, dislocated hips, digitalisation of the thumb with bifid distal phalanx), craniofacial features (for example microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (for example pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. 900000000000017005 +3703570012 20190131 1 900000000000207008 770948004 en 900000000000550004 A rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (for example short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (for example microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (for example pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. 900000000000017005 +3703840012 20190131 1 900000000000207008 771143004 en 900000000000550004 A rare axonal hereditary motor and sensory neuropathy with characteristics of slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. 900000000000017005 +3703841011 20190131 1 900000000000207008 771144005 en 900000000000550004 A rare axonal hereditary motor and sensory neuropathy with characteristics of progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999. 900000000000017005 +3704033017 20190131 1 900000000000207008 771013004 en 900000000000550004 A rare genetic multiple developmental anomalies syndrome with characteristics of craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975. 900000000000017005 +3704033017 20190731 0 900000000000207008 771013004 en 900000000000550004 A rare genetic multiple developmental anomalies syndrome with characteristics of craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975. 900000000000017005 +3704192010 20190131 1 900000000000207008 771072001 en 900000000000550004 A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. 900000000000017005 +3704196013 20190131 1 900000000000207008 771073006 en 900000000000550004 Rare immunodeficiency-associated lymphoproliferative disease with characteristics of lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients. 900000000000017005 +3704199018 20190131 1 900000000000207008 771074000 en 900000000000550004 A rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. 900000000000017005 +3704200015 20190131 1 900000000000207008 771074000 en 900000000000550004 A rare genetic malformation syndrome with short stature characterised by postnatal microcephaly, failure to thrive, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalised oedema, myopia, strabismus, hypothyroidism. 900000000000017005 +3704201016 20190131 1 900000000000207008 771075004 en 900000000000550004 A rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency. 900000000000017005 +3704203018 20190131 1 900000000000207008 771075004 en 900000000000550004 A rare haemorrhagic disorder due to a platelet anomaly characterised by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency. 900000000000017005 +3704207017 20190131 1 900000000000207008 771076003 en 900000000000550004 A rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot deformities (for example talipes cavovalgus) are frequently present. 900000000000017005 +3704208010 20190131 1 900000000000207008 771076003 en 900000000000550004 A rare neural tube closure defect characterised by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibres, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot deformities (for example talipes cavovalgus) are frequently present. 900000000000017005 +3704212016 20190131 1 900000000000207008 771077007 en 900000000000550004 A rare genetic syndromic intellectual disability affecting males with characteristics of short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome. 900000000000017005 +3704217010 20190131 1 900000000000207008 771078002 en 900000000000550004 A rare genetic immunodeficiency due to a complement cascade protein anomaly with characteristics of low serum levels of MASP-2 and a variable susceptibility to bacterial infections (for example pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (for example inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. There is evidence the disease is caused by homozygous mutation in the MASP2 gene on chromosome 1p36. 900000000000017005 +3704239012 20190131 1 900000000000207008 771080008 en 900000000000550004 Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal neoplasm). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients. 900000000000017005 +3704245016 20190131 1 900000000000207008 771081007 en 900000000000550004 A rare slowly progressive genetic peripheral neuropathy with characteristics of distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with unilateral or bilateral vocal cord paresis leading to hoarse voice, breathing difficulties and facial weakness. 900000000000017005 +3704379018 20190131 1 900000000000207008 771147003 en 900000000000550004 A rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and with characteristics of complete congenital anosmia. 900000000000017005 +3704382011 20190131 1 900000000000207008 771148008 en 900000000000550004 A rare syndromic microphthalmia disorder with characteristics of microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. 900000000000017005 +3704545015 20190131 1 900000000000207008 771141002 en 900000000000550004 A rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal. 900000000000017005 +3704548018 20190131 1 900000000000207008 771141002 en 900000000000550004 A rare infantile epilepsy syndrome characterised by seizures presenting with motion arrest and staring. They are followed by generalised tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalisation in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal. 900000000000017005 +3704556015 20190131 1 900000000000207008 771142009 en 900000000000550004 A rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life. 900000000000017005 +3704557012 20190131 1 900000000000207008 771142009 en 900000000000550004 A rare genetic epilepsy characterised by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioural abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behaviour, autistic features) and intellectual disability later in life. 900000000000017005 +3704567019 20190131 1 900000000000207008 771145006 en 900000000000550004 A rare superficial pemphigus disease characterised by severe intractable pruritus with erythematous or urticarial plaques and vesicles organised in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titres of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated. 900000000000017005 +3704568012 20190131 1 900000000000207008 771145006 en 900000000000550004 A rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated. 900000000000017005 +3704571016 20190131 1 900000000000207008 771146007 en 900000000000550004 A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). 900000000000017005 +3704581017 20190131 1 900000000000207008 771149000 en 900000000000550004 A rare syndromic intellectual disability characterised by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnoea. There have been no further descriptions in the literature since 1987. 900000000000017005 +3704582012 20190131 1 900000000000207008 771149000 en 900000000000550004 A rare syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. 900000000000017005 +3704758016 20190131 1 900000000000207008 771177009 en 900000000000550004 A rare genetic congenital limb malformation disorder with characteristics of hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982. 900000000000017005 +3704762010 20190131 1 900000000000207008 771178004 en 900000000000550004 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterised by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinaemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991. 900000000000017005 +3704763017 20190131 1 900000000000207008 771178004 en 900000000000550004 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991. 900000000000017005 +3704767016 20190131 1 900000000000207008 771179007 en 900000000000550004 A rare genetic malformation syndrome with characteristics of microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. 900000000000017005 +3704771018 20190131 1 900000000000207008 771180005 en 900000000000550004 A rare genetic congenital limb malformation disorder with characteristics of bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980. 900000000000017005 +3704776011 20190131 1 900000000000207008 771181009 en 900000000000550004 A rare hair anomaly characterised by symmetrical, congenital or early-onset, bilateral hypertrichosis localised on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. 900000000000017005 +3704777019 20190131 1 900000000000207008 771181009 en 900000000000550004 A rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrichosis localized on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. 900000000000017005 +3704792018 20190131 1 900000000000207008 771182002 en 900000000000550004 A rare genetic congenital limb malformation syndrome with characteristics of short stature, sparse scalp hair, hypoplastic, proximally placed thumbs and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. 900000000000017005 +3704806015 20190131 1 900000000000207008 771184001 en 900000000000550004 A rare genetic epidermal disease with characteristics of early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. 900000000000017005 +3704808019 20190131 1 900000000000207008 771185000 en 900000000000550004 A dysostosis with predominant vertebral and costal involvement and characteristics of oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. 900000000000017005 +3704829011 20190131 1 900000000000207008 771187008 en 900000000000550004 A rare genetic rheumatologic disease with characteristics of congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. There is evidence the disease can be caused by homozygous mutation in the proteoglycan-4 gene (PRG4) on chromosome 1q31. 900000000000017005 +3704974015 20190131 1 900000000000207008 276466000 en 900000000000550004 Unburned patch surrounded by burn. 900000000000017005 +3705163018 20190131 1 900000000000207008 771186004 en 900000000000550004 A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. 900000000000017005 +3705164012 20190131 1 900000000000207008 771186004 en 900000000000550004 A rare genetic developmental defect during embryogenesis. A syndrome characterised by the association of congenital poikiloderma (P), generalised alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. 900000000000017005 +3705169019 20190131 1 900000000000207008 771223000 en 900000000000550004 A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21. 900000000000017005 +3705170018 20190131 1 900000000000207008 771223000 en 900000000000550004 A monogenic disease with epilepsy characterised by developmental delay and infantile spasms in the first months of life, followed by chorea and generalised dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21. 900000000000017005 +3705174010 20190131 1 900000000000207008 771232003 en 900000000000550004 A rare potentially sight-threatening acquired ocular disease characterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungal or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent. 900000000000017005 +3705175011 20190131 1 900000000000207008 771232003 en 900000000000550004 A rare potentially sight-threatening acquired ocular disease characterised by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungal or protist infection, manifesting with variable symptoms, such as conjunctival hyperaemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent. 900000000000017005 +3705182010 20190131 1 900000000000207008 771233008 en 900000000000550004 A rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction. 900000000000017005 +3705185012 20190131 1 900000000000207008 771234002 en 900000000000550004 A rare cerebellar malformation with characteristics of hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected individuals present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor and possible emotional fragility and mild depression. 900000000000017005 +3705189018 20190131 1 900000000000207008 771235001 en 900000000000550004 A rare benign retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity or coloboma has been reported. 900000000000017005 +3705190010 20190131 1 900000000000207008 771235001 en 900000000000550004 A rare benign retinal vascular disease characterised by solitary or multiple, unilateral or bilateral, intra-retinal tumour(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular oedema, as well as, occasionally, retinal and vitreous haemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity or coloboma has been reported. 900000000000017005 +3705193012 20190131 1 900000000000207008 771236000 en 900000000000550004 A rare life-threatening non-inflammatory vasculopathy disorder characterised by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnoea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation. 900000000000017005 +3705194018 20190131 1 900000000000207008 771236000 en 900000000000550004 A rare life-threatening non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation. 900000000000017005 +3705197013 20190131 1 900000000000207008 771237009 en 900000000000550004 A rare neurologic disease with characteristics of persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms. 900000000000017005 +3705200014 20190131 1 900000000000207008 771238004 en 900000000000550004 A rare bulbospinal muscular atrophy characterised by generalised neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. 900000000000017005 +3705201013 20190131 1 900000000000207008 771238004 en 900000000000550004 A rare bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. 900000000000017005 +3705207012 20190131 1 900000000000207008 771239007 en 900000000000550004 A rare ectodermal dysplasia syndrome with characteristics of tricho and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia. 900000000000017005 +3705212013 20190131 1 900000000000207008 771240009 en 900000000000550004 A rare ectodermal dysplasia syndrome with characteristics of dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. 900000000000017005 +3705332011 20190131 1 900000000000207008 771261002 en 900000000000550004 A rare hereditary motor and sensory neuropathy with characteristics of flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986. 900000000000017005 +3705337017 20190131 1 900000000000207008 771262009 en 900000000000550004 A rare genetic adrenal disorder with characteristics of congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. 900000000000017005 +3705343015 20190131 1 900000000000207008 771263004 en 900000000000550004 A rare hereditary disorder with the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983. 900000000000017005 +3705344014 20190131 1 900000000000207008 771264005 en 900000000000550004 A rare genetic limb reduction defects syndrome with characteristics of bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (for example hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. 900000000000017005 +3705349016 20190131 1 900000000000207008 771265006 en 900000000000550004 A rare genetic development defect during embryogenesis malformation syndrome with the association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. 900000000000017005 +3705353019 20190131 1 900000000000207008 771266007 en 900000000000550004 An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. 900000000000017005 +3705358011 20190131 1 900000000000207008 771267003 en 900000000000550004 A rare genetic congenital muscular dystrophy due to extracellular matrix protein anomaly. The disease has characteristics of early motor development delay and muscle weakness with mild elevation of serum creatine kinase that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. There is evidence this disease is caused by compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. 900000000000017005 +3705364016 20190131 1 900000000000207008 771269000 en 900000000000550004 A rare distal arthrogryposis syndrome with characteristics of multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. There is evidence this disease is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13. 900000000000017005 +3705372019 20190131 1 900000000000207008 771271000 en 900000000000550004 A rare acquired neurological disease with characteristics of encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations. 900000000000017005 +3705382018 20190131 1 900000000000207008 771272007 en 900000000000550004 A rare congenital muscular dystrophy with characteristics of prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. Caused by heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22. 900000000000017005 +3705541017 20190131 1 900000000000207008 771300001 en 900000000000550004 A rare benign non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and mid dermis. 900000000000017005 +3705542012 20190131 1 900000000000207008 771300001 en 900000000000550004 A rare benign non-Langerhans cell histiocytosis characterised by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-coloured to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and mid dermis. 900000000000017005 +3705545014 20190131 1 900000000000207008 771301002 en 900000000000550004 A rare type of spondylometaphyseal dysplasia with characteristics of metaphyseal changes of the truncal-juxta truncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora. 900000000000017005 +3705550015 20190131 1 900000000000207008 771302009 en 900000000000550004 A rare genetic neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. There is evidence the disease is caused by homozygous mutation in the gene encoding pleckstrin homology domain-containing protein, family G member 5 (PLEKHG5) on chromosome 1p36. 900000000000017005 +3705551016 20190131 1 900000000000207008 771302009 en 900000000000550004 A rare genetic neuromuscular disease characterised by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalised areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalised weakness and slower disease progress was reported. There is evidence the disease is caused by homozygous mutation in the gene encoding pleckstrin homology domain-containing protein, family G member 5 (PLEKHG5) on chromosome 1p36. 900000000000017005 +3705557017 20190131 1 900000000000207008 771303004 en 900000000000550004 A rare monogenic disease with characteristics of neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. Caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. 900000000000017005 +3705558010 20190131 1 900000000000207008 771304005 en 900000000000550004 Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterised by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioural abnormalities. 900000000000017005 +3705559019 20190131 1 900000000000207008 771304005 en 900000000000550004 Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities. 900000000000017005 +3705564015 20190131 1 900000000000207008 771305006 en 900000000000550004 A rare genetic disorder of thiamine metabolism and transport with characteristics of the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. Caused by homozygous mutation in the SLC25A19 gene on chromosome 17q25. 900000000000017005 +3705569013 20190131 1 900000000000207008 771306007 en 900000000000550004 A rare genetic hereditary poikiloderma syndrome characterised by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities and progressive pulmonary fibrosis. Mild lymphoedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and haematologic abnormalities are additional variable features. There is evidence the disease is caused by heterozygous mutation in the FAM111B gene on chromosome 11q12. 900000000000017005 +3705570014 20190131 1 900000000000207008 771306007 en 900000000000550004 A rare genetic hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features. There is evidence the disease is caused by heterozygous mutation in the FAM111B gene on chromosome 11q12. 900000000000017005 +3705577012 20190131 1 900000000000207008 771307003 en 900000000000550004 A rare axonal hereditary motor and sensory neuropathy with characteristics of infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. 900000000000017005 +3705581012 20190131 1 900000000000207008 771308008 en 900000000000550004 A rare genetic non-acquired combined pituitary hormone deficiency disorder with characteristics of panhypopituitarism (with or without adrenocorticotropic hormone deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. There is evidence this disease is caused by homozygous mutation in the LHX3 gene on chromosome 9q34. 900000000000017005 +3705585015 20190131 1 900000000000207008 771309000 en 900000000000550004 A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterised by persistent symptomatic Epstein-Barr viraemia and hypogammaglobulinaemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, haemophagocytic lymphohistiocytosis, and aplastic anaemia. 900000000000017005 +3705586019 20190131 1 900000000000207008 771309000 en 900000000000550004 A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic Epstein-Barr viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia. 900000000000017005 +3705801016 20190131 1 900000000000207008 771333006 en 900000000000550004 A rare immune dysregulation disease with immunodeficiency and characteristics of severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. 900000000000017005 +3705804012 20190131 1 900000000000207008 771334000 en 900000000000550004 A subtype of autosomal dominant limb-girdle muscular dystrophy with characteristics of slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle. 900000000000017005 +3705807017 20190131 1 900000000000207008 771335004 en 900000000000550004 A rare genetic ectodermal dysplasia syndrome with characteristics of sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Caused by homozygous or compound heterozygous mutation in the PVRL4 gene (NECTIN4) on chromosome 1q23. 900000000000017005 +3705810012 20190131 1 900000000000207008 771336003 en 900000000000550004 A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. 900000000000017005 +3705814015 20190131 1 900000000000207008 771337007 en 900000000000550004 A rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression. The syndrome has characteristics of macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. 900000000000017005 +3705818017 20190131 1 900000000000207008 771338002 en 900000000000550004 A rare genetic bone development disorder with characteristics of parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. There is evidence the disease is caused by heterozygous mutation in the MSX2 gene on chromosome 5q35. 900000000000017005 +3705823017 20190131 1 900000000000207008 771339005 en 900000000000550004 A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (for example inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported. 900000000000017005 +3705824011 20190131 1 900000000000207008 771339005 en 900000000000550004 A rare inborn error of zinc metabolism characterised by recurrent infections, hepatosplenomegaly, anaemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (for example inflammation) and arthralgia. Severe epistaxis and spontaneous haematomas have also been reported. 900000000000017005 +3705828014 20190131 1 900000000000207008 771340007 en 900000000000550004 A rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia). 900000000000017005 +3705832015 20190131 1 900000000000207008 771341006 en 900000000000550004 A rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. 900000000000017005 +3705833013 20190131 1 900000000000207008 771341006 en 900000000000550004 A rare chromosomal anomaly characterised by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioural abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. 900000000000017005 +3705838016 20190131 1 900000000000207008 771342004 en 900000000000550004 A rare genetic retinal dystrophy disorder with characteristics of bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. There is evidence the disease is caused by heterozygous mutation in the bestrophin-1 gene (BEST1) on chromosome 11q12. 900000000000017005 +3706205010 20190131 1 900000000000207008 771440006 en 900000000000550004 A rare genetic overgrowth syndrome with characteristics of non-progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated. 900000000000017005 +3706208012 20190131 1 900000000000207008 771441005 en 900000000000550004 A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13. 900000000000017005 +3706209016 20190131 1 900000000000207008 771441005 en 900000000000550004 A rare genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13. 900000000000017005 +3706217012 20190131 1 900000000000207008 771442003 en 900000000000550004 A rare genetic progeroid syndrome with a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrythmias and skeletal anomalies. Patients typically present with widely opened fontanelle, mainly truncal hypotonia, waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. There is evidence this disease is caused by mutation in the NAA10 gene on chromosome Xq28. 900000000000017005 +3706217012 20200731 0 900000000000207008 771442003 en 900000000000550004 A rare genetic progeroid syndrome with a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrythmias and skeletal anomalies. Patients typically present with widely opened fontanelle, mainly truncal hypotonia, waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. There is evidence this disease is caused by mutation in the NAA10 gene on chromosome Xq28. 900000000000017005 +3706221017 20190131 1 900000000000207008 771443008 en 900000000000550004 A rare genetic primary immunodeficiency with characteristics of susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure. The disease is caused by homozygous or compound heterozygous mutation in the C3 gene on chromosome 19p13. 900000000000017005 +3706226010 20190131 1 900000000000207008 771444002 en 900000000000550004 A rare metabolite absorption and transport disorder with characteristics of moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however; screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. Caused by mutation in the gene encoding the transcobalamin receptor (CD320). 900000000000017005 +3706232017 20190131 1 900000000000207008 771445001 en 900000000000550004 A rare genetic phospho-calcic metabolism disorder characterised by early-onset hypercalcaemia, hypophosphataemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria. 900000000000017005 +3706233010 20190131 1 900000000000207008 771445001 en 900000000000550004 A rare genetic phospho-calcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria. 900000000000017005 +3706234016 20190131 1 900000000000207008 771446000 en 900000000000550004 A rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphoid follicles around the affected bile and pancreatic ducts. 900000000000017005 +3706237011 20190131 1 900000000000207008 771446000 en 900000000000550004 A rare pancreatobiliary disease characterised by marked duct-centred lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphoid follicles around the affected bile and pancreatic ducts. 900000000000017005 +3706243013 20190131 1 900000000000207008 771447009 en 900000000000550004 A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterised by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, oedema, hypertension, and hyperlipidaemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. 900000000000017005 +3706243013 20200731 0 900000000000207008 771447009 en 900000000000550004 A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterised by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, oedema, hypertension, and hyperlipidaemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. 900000000000017005 +3706244019 20190131 1 900000000000207008 771447009 en 900000000000550004 A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. 900000000000017005 +3706244019 20200731 0 900000000000207008 771447009 en 900000000000550004 A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. 900000000000017005 +3706247014 20190131 1 900000000000207008 771448004 en 900000000000550004 A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11. 900000000000017005 +3706311011 20190131 1 900000000000207008 771458000 en 900000000000550004 Sexual relations with a person with whom the subject has not previously had such relations within a time frame relevant to some current health issue 900000000000017005 +3706342018 20190131 1 900000000000207008 771439009 en 900000000000550004 A rare partial deletion of the long arm of chromosome 14 with characteristics of ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations and hearing impairment. Smaller 14q22 deletions may have variable expression. 900000000000017005 +3706349010 20190131 1 900000000000207008 771469002 en 900000000000550004 A rare hereditary spastic ataxia disorder with childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11. 900000000000017005 +3706352019 20190131 1 900000000000207008 771470001 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white cafe au lait-like spots on the skin of hands and feet are also associated. There is evidence this disease is caused by homozygous mutation in the RBBP8 gene on chromosome 18q11.2. 900000000000017005 +3706356016 20190131 1 900000000000207008 771471002 en 900000000000550004 A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. 900000000000017005 +3706357013 20190131 1 900000000000207008 771471002 en 900000000000550004 A rare presumably genetic disorder characterised by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve oedema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. 900000000000017005 +3706362014 20190131 1 900000000000207008 771472009 en 900000000000550004 A rare genetic syndromic intellectual disability characterised by mild to severe global developmental delay, intellectual disability and behavioural abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities). 900000000000017005 +3706363016 20190131 1 900000000000207008 771472009 en 900000000000550004 A rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities). 900000000000017005 +3706370016 20190131 1 900000000000207008 771473004 en 900000000000550004 A rare genetic neurocutaneous syndrome with characteristics of the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular poly cyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs. Associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and ophthalmological abnormalities have also been reported. 900000000000017005 +3706370016 20210930 0 900000000000207008 771473004 en 900000000000550004 A rare genetic neurocutaneous syndrome with characteristics of the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular poly cyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs. Associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and ophthalmological abnormalities have also been reported. 900000000000017005 +3706375014 20190131 1 900000000000207008 771474005 en 900000000000550004 A rare hereditary gastric cancer with characteristics of proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, without duodenal or colorectal polyposis. 900000000000017005 +3706379015 20190131 1 900000000000207008 771475006 en 900000000000550004 A rare autosomal recessive distal hereditary motor neuropathy with characteristics of slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. There is evidence this disease is caused by homozygous mutation in the DNAJB2 gene on chromosome 2q35. 900000000000017005 +3706383015 20190131 1 900000000000207008 771476007 en 900000000000550004 A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions on brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. 900000000000017005 +3706384014 20190131 1 900000000000207008 771476007 en 900000000000550004 A rare neurologic disease characterised by global developmental delay, intellectual disability, multiple ischaemic lesions on brain MRI, behavioural abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. 900000000000017005 +3706389016 20190131 1 900000000000207008 771477003 en 900000000000550004 A rare partial autosomal trisomy/tetrasomy characterised by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre and postnatal overgrowth, renal anomalies (for example horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioural abnormalities. Additional features may include craniosynostosis and macrocephaly. 900000000000017005 +3706390013 20190131 1 900000000000207008 771477003 en 900000000000550004 A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre and postnatal overgrowth, renal anomalies (for example horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. 900000000000017005 +3706397011 20190131 1 900000000000207008 771478008 en 900000000000550004 A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency. The disease has characteristics of lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. Caused by homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. 900000000000017005 +3706402010 20190131 1 900000000000207008 771479000 en 900000000000550004 A rare genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, tricuspid and pulmonary valve insufficiency). Caused by homozygous mutation in the STK4 gene on chromosome 20q13. 900000000000017005 +3706403017 20190131 1 900000000000207008 771479000 en 900000000000550004 A rare genetic combined T and B cell immunodeficiency characterised by T- and B-cell lymphopenia, hypergammaglobulinaemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicaemia. Other clinical features include autoimmune manifestations (autoimmune haemolytic anaemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, tricuspid and pulmonary valve insufficiency). Caused by homozygous mutation in the STK4 gene on chromosome 20q13. 900000000000017005 +3706517011 20190131 1 900000000000207008 268868001 en 900000000000550004 An infant born after 28 completed weeks of gestation and before 32 completed weeks of gestation. 900000000000017005 +3706521016 20190131 1 900000000000207008 276658003 en 900000000000550004 An infant born before 28 completed weeks of gestation. 900000000000017005 +3706551010 20190131 1 900000000000207008 771509001 en 900000000000550004 A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. 900000000000017005 +3706552015 20190131 1 900000000000207008 771509001 en 900000000000550004 A mitochondrial oxidative phosphorylation disorder characterised by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalised hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. 900000000000017005 +3706557014 20190131 1 900000000000207008 771510006 en 900000000000550004 A rare genetic endocrine disease with characteristics of central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency. Caused by mutation in the IGSF1 gene on chromosome Xq26. 900000000000017005 +3706565012 20190131 1 900000000000207008 771511005 en 900000000000550004 A rare genetic syndrome with limb reduction defects with characteristics of thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. 900000000000017005 +3706570017 20190131 1 900000000000207008 771512003 en 900000000000550004 A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. Caused by heterozygous intragenic copy number variation in the KIAA0442 gene (AUTS2) on chromosome 7q11. 900000000000017005 +3706571018 20190131 1 900000000000207008 771512003 en 900000000000550004 A rare genetic syndromic intellectual disability characterised by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behaviour, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. Caused by heterozygous intragenic copy number variation in the KIAA0442 gene (AUTS2) on chromosome 7q11. 900000000000017005 +3706576011 20190131 1 900000000000207008 771513008 en 900000000000550004 A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency and characteristics of hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-ophthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. Caused by homozygous mutation in the MRPL44 gene on chromosome 2. 900000000000017005 +3706579016 20190131 1 900000000000207008 771514002 en 900000000000550004 A genetic neurodegenerative disease with normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. 900000000000017005 +3706584010 20190131 1 900000000000207008 771515001 en 900000000000550004 A rare genetic disease with characteristics of facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naive T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4. Patients do not exhibit increased susceptibility to cancer. There is evidence the disease is caused by homozygous mutation in the POLE gene on chromosome 12q24. 900000000000017005 +3706591013 20190131 1 900000000000207008 771516000 en 900000000000550004 A congenital disorder of glycosylation with characteristics of severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). Caused by hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11. 900000000000017005 +3706603010 20190131 1 900000000000207008 771517009 en 900000000000550004 A rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22. 900000000000017005 +3707931010 20190131 1 900000000000207008 771988004 en 900000000000550004 A partial-thickness cornea transplant procedure that involves selective transplantation of the corneal stroma, preserving the Descemet membrane and endothelium. 900000000000017005 +3707980017 20190131 1 900000000000207008 772004004 en 900000000000550004 Fluctuating between male and female, or identifying as either having a gender that is in-between or beyond the two categories or as having no gender, either permanently or some of the time. 900000000000017005 +3708132018 20190131 1 900000000000207008 772044006 en 900000000000550004 Amputation of entire lower limb and half of pelvis on the same side. 900000000000017005 +3708144015 20190131 1 900000000000207008 772045007 en 900000000000550004 Resection of part or all of the innominate bone with preservation of the lower extremity. 900000000000017005 +3711689019 20190131 1 900000000000207008 282785008 en 900000000000550004 Ischemic injury to anterior spinal cord due to occlusion of anterior spinal artery. 900000000000017005 +3711690011 20190131 1 900000000000207008 282785008 en 900000000000550004 Ischaemic injury to anterior spinal cord due to occlusion of anterior spinal artery. 900000000000017005 +3716696016 20190131 1 900000000000207008 772126000 en 900000000000550004 A disorder of the skin and immune system with initial manifestation of a bumpy skin rash usually between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades leaving hyperpigmentation and hypopigmentation and telangiectases, this combination is known as poikiloderma. Palmoplantar keratoderma, calcinosis cutis, skin ulcers, pachyonychia, fragile teeth and low bone density may also be present. Chronic neutropenia is present resulting in recurrent sinus infections and pneumonia, especially in the first few years of life. Caused by mutations in the USB1 gene. 900000000000017005 +3716697013 20190131 1 900000000000207008 772127009 en 900000000000550004 Syndrome with manifestations of borderline normal to severe intellectual disability. Most affected individuals have autism spectrum disorder (ASD), which can occur with characteristics that are unusual in people with ASD, such as an overly friendly demeanor. Other characteristics include delayed development, microcephaly, brachycephaly, hypertelorism, midface hypoplasia, small mouth with a thin upper lip. Diaphragmatic hernia is present in some cases. Caused by mutations in the POGZ gene. POGZ gene mutations are thought to impair the ability of the POGZ protein to bind to chromatin, leading to abnormal gene expression that affects development of the brain and other body systems. May be inherited in an autosomal dominant pattern, however most cases result from de novo mutations in the gene. 900000000000017005 +3716698015 20190131 1 900000000000207008 772129007 en 900000000000550004 Disease with characteristics of muscle weakness and atrophy in the lower limbs, most severely affecting the quadriceps. The loss of motor neurons leads to atrophy of the muscles in the lower limbs with manifestations including unsteady walk and walking on the balls of the feet. Some also have weakness in upper limb muscles. Contractures of the hips, knees, feet, and ankles may occur and in severe cases may be present from birth. Muscle problems are apparent in infancy or early childhood however about one-quarter of affected individuals do not develop muscle weakness until adulthood. Caused by mutations in the DYNC1H1 gene or BICD2 gene. 900000000000017005 +3717168016 20190131 1 900000000000207008 772130002 en 900000000000550004 High risk of developing malignant rhabdoid tumours that are highly aggressive and rare in the general population. The tumours usually occur in the first year of life, however for those with this syndrome they occur at an average age of 4 to 7 months or even before birth. The tumours spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood. More than half of the tumours develop in the cerebellum, but can also occur outside the central nervous system. Caused by mutations in the SMARCB1 gene. These cases are sometimes known as RTPS1. A small number of cases (called RTPS2) are caused by mutations in the SMARCA4 gene. The majority of cases are caused by SMARCB1 gene mutations which may occur in people with no history of the disorder in their family. 900000000000017005 +3717169012 20190131 1 900000000000207008 772130002 en 900000000000550004 High risk of developing malignant rhabdoid tumors that are highly aggressive and rare in the general population. The tumors usually occur in the first year of life, however for those with this syndrome they occur at an average age of 4 to 7 months or even before birth. The tumors spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood. More than half of the tumors develop in the cerebellum, but can also occur outside the central nervous system. Caused by mutations in the SMARCB1 gene. These cases are sometimes known as RTPS1. A small number of cases (called RTPS2) are caused by mutations in the SMARCA4 gene. The majority of cases are caused by SMARCB1 gene mutations which may occur in people with no history of the disorder in their family. 900000000000017005 +3717762012 20190131 1 900000000000207008 772225005 en 900000000000550004 RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene. 900000000000017005 +3717764013 20190131 1 900000000000207008 772224009 en 900000000000550004 An autosomal recessive disorder with characteristics of ocular and neurodevelopmental defects and micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. With exception of the ophthalmologic features, the clinical and dysmorphic findings are either unapparent or subtle in the early postnatal period. Mutations in RAB3GAP, a gene showing linkage to a region of homozygosity at 2q21.3, have been identified in some families. 900000000000017005 +3719401014 20190131 1 900000000000207008 772786005 en 900000000000550004 A medical certificate or doctor's note is a written statement from a physician or other medically qualified health care provider which attests to the result of a medical examination of a patient. 900000000000017005 +3720302014 20190131 1 900000000000207008 417682001 en 900000000000550004 A vertical line used as a reference in standing antero-posterior x-rays and postural evaluation, passing equidistant between the heels. 900000000000017005 +3720303016 20190131 1 900000000000207008 416426004 en 900000000000550004 The hypothetical functional axis of sacral nutation/counternutation in the standing position, passing horizontally through the anterior aspect of the sacrum at the level of the second sacral segment. 900000000000017005 +3722627017 20190131 1 900000000000207008 773230003 en 900000000000550004 Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene. 900000000000017005 +3722845019 20190131 1 900000000000207008 773276004 en 900000000000550004 A subtype of Ehlers-Danlos syndrome with characteristics of skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. There is evidence the disease is caused by homozygous mutation of gene SLC39A13 on chromosome 11p11.2. 900000000000017005 +3722848017 20190131 1 900000000000207008 773274001 en 900000000000550004 A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. 900000000000017005 +3722853010 20190131 1 900000000000207008 773275000 en 900000000000550004 A rare acquired non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation. Characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated. 900000000000017005 +3722854016 20190131 1 900000000000207008 773275000 en 900000000000550004 A rare acquired non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic haemapoietic stem cell transplantation. Characterised by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated. 900000000000017005 +3722866010 20190131 1 900000000000207008 773278003 en 900000000000550004 A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. 900000000000017005 +3722867018 20190131 1 900000000000207008 773278003 en 900000000000550004 A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricaemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. 900000000000017005 +3722878014 20190131 1 900000000000207008 773279006 en 900000000000550004 A rare genetic developmental defect during embryogenesis syndrome with characteristics of postaxial polydactyly and other abnormalities of the hands and feet (for example brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. 900000000000017005 +3722881016 20190131 1 900000000000207008 773280009 en 900000000000550004 A rare genetic renal or urinary tract malformation syndrome with characteristics of nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. 900000000000017005 +3722887017 20190131 1 900000000000207008 773281008 en 900000000000550004 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991. 900000000000017005 +3722888010 20190131 1 900000000000207008 773281008 en 900000000000550004 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short oesophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991. 900000000000017005 +3722892015 20190131 1 900000000000207008 773282001 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989. 900000000000017005 +3722893013 20190131 1 900000000000207008 773282001 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apnoeic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989. 900000000000017005 +3722898016 20190131 1 900000000000207008 773283006 en 900000000000550004 An extremely rare uterine neoplasm with characteristics of a usually polypoid, friable neoplasm deriving from primordial germ cells located in the uterine cervix. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a cervical mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. Various histological subtypes (including dysgerminoma, yolk sac neoplasm, choriocarcinoma and malignant teratoma) are reported. 900000000000017005 +3722903017 20190131 1 900000000000207008 773284000 en 900000000000550004 An extremely rare uterine neoplasm with characteristics of a typically polypoid mass deriving from primordial germ cells in the endometrium. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. The malignant teratoma and yolk sac histological subtypes are the most common. 900000000000017005 +3722996018 20190131 1 900000000000207008 773299000 en 900000000000550004 A uniparental disomy of maternal origin which may be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described and specific phenotype depends on the inherited disorder. 900000000000017005 +3722997010 20190131 1 900000000000207008 773300008 en 900000000000550004 A rare primary bone dysplasia disorder with characteristics of congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. 900000000000017005 +3723042011 20190131 1 900000000000207008 773301007 en 900000000000550004 A rare primary bone dysplasia disorder with characteristics of infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy. 900000000000017005 +3723045013 20190131 1 900000000000207008 773302000 en 900000000000550004 A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. 900000000000017005 +3723046014 20190131 1 900000000000207008 773302000 en 900000000000550004 A rare primary bone dysplasia disorder characterised by the association of dental anomalies (oligodontia with pointed incisors) and generalised platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. 900000000000017005 +3723052010 20190131 1 900000000000207008 773303005 en 900000000000550004 A rare primary bone dysplasia with characteristics of severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. Caused by homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. 900000000000017005 +3723056013 20190131 1 900000000000207008 773304004 en 900000000000550004 A rare primary bone dysplasia disorder with characteristics of severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. 900000000000017005 +3723059018 20190131 1 900000000000207008 773305003 en 900000000000550004 A rare genetic central nervous system malformation syndrome with characteristics of marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. 900000000000017005 +3723062015 20190131 1 900000000000207008 773306002 en 900000000000550004 A rare genetic lethal non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. There is evidence this disease is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12. 900000000000017005 +3723065018 20190131 1 900000000000207008 773306002 en 900000000000550004 A rare genetic lethal non-dystrophic congenital myopathy disorder characterised, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalised skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganisation of the Z band are observed. There is evidence this disease is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12. 900000000000017005 +3723069012 20190131 1 900000000000207008 773307006 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. 900000000000017005 +3723073010 20190131 1 900000000000207008 773308001 en 900000000000550004 A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of severe, early childhood-onset Charcot-Marie-Tooth neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. Caused by homozygous mutation in the GDAP1 gene on chromosome 8q21. 900000000000017005 +3723179011 20190131 1 900000000000207008 773325004 en 900000000000550004 A rare chromosomal anomaly with characteristics of a predominantly neuropsychiatric phenotype with a few dysmorphic features. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. 900000000000017005 +3723185016 20190131 1 900000000000207008 773326003 en 900000000000550004 A rare chromosomal anomaly with characteristics of speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism. 900000000000017005 +3723189010 20190131 1 900000000000207008 773328002 en 900000000000550004 A rare granulomatous autoinflammatory disease with characteristics of infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation. 900000000000017005 +3723197015 20190131 1 900000000000207008 773329005 en 900000000000550004 A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. 900000000000017005 +3723198013 20190131 1 900000000000207008 773329005 en 900000000000550004 A rare genetic X-linked syndromic intellectual disability disorder characterised by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioural problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. 900000000000017005 +3723203017 20190131 1 900000000000207008 773330000 en 900000000000550004 An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterised by a CMT neuropathy associated with developmental delay, self-abusive behaviour, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. 900000000000017005 +3723204011 20190131 1 900000000000207008 773330000 en 900000000000550004 An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. 900000000000017005 +3723208014 20190131 1 900000000000207008 773331001 en 900000000000550004 A rare genetic progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair. There is evidence the disease is caused by homozygous mutation in the BANF1 gene on chromosome 11q13. 900000000000017005 +3723209018 20190131 1 900000000000207008 773331001 en 900000000000550004 A rare genetic progeroid syndrome characterised by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalised lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair. There is evidence the disease is caused by homozygous mutation in the BANF1 gene on chromosome 11q13. 900000000000017005 +3723215018 20190131 1 900000000000207008 773332008 en 900000000000550004 A rare genetic cranial malformation syndrome with characteristics of premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (for example finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. There is evidence this disease is caused by homozygous mutation in the IL11RA gene on chromosome 9p13. 900000000000017005 +3723220018 20190131 1 900000000000207008 773333003 en 900000000000550004 A rare genetic multisystemic chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, amongst others. 900000000000017005 +3723221019 20190131 1 900000000000207008 773333003 en 900000000000550004 A rare genetic multisystemic chronic autoimmune disease characterised by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, haematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, amongst others. 900000000000017005 +3723249014 20190131 1 900000000000207008 773345007 en 900000000000550004 A rare genetic odontologic disease with characteristics of the congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated. 900000000000017005 +3723254017 20190131 1 900000000000207008 773346008 en 900000000000550004 A rare chromosomal anomaly with characteristics of developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. 900000000000017005 +3723361016 20190131 1 900000000000207008 773393001 en 900000000000550004 A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. There is evidence this disease is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. 900000000000017005 +3723364012 20190131 1 900000000000207008 773394007 en 900000000000550004 A cerebral malformation with characteristics of symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism. 900000000000017005 +3723371019 20190131 1 900000000000207008 773395008 en 900000000000550004 A rare brain inflammatory disease characterized by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthria, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhea, gastroparesis, and constipation. 900000000000017005 +3723371019 20220630 0 900000000000207008 773395008 en 900000000000550004 A rare brain inflammatory disease characterized by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthria, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhea, gastroparesis, and constipation. 900000000000017005 +3723372014 20190131 1 900000000000207008 773395008 en 900000000000550004 A rare brain inflammatory disease characterised by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthria, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhoea, gastroparesis, and constipation. 900000000000017005 +3723372014 20220630 0 900000000000207008 773395008 en 900000000000550004 A rare brain inflammatory disease characterised by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthria, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhoea, gastroparesis, and constipation. 900000000000017005 +3723380019 20190131 1 900000000000207008 773396009 en 900000000000550004 A rare subtype of distal arthrogryposis syndrome with characteristics of arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (for example ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, clubfeet, scoliosis and short stature. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q36. 900000000000017005 +3723385012 20190131 1 900000000000207008 773397000 en 900000000000550004 A rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema. 900000000000017005 +3723386013 20190131 1 900000000000207008 773397000 en 900000000000550004 A rare gastrooesophageal disease characterised by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anaemia, abdominal pain not related to eating or bowel habits and absence of peripheral oedema. 900000000000017005 +3723390010 20190131 1 900000000000207008 773398005 en 900000000000550004 A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene. 900000000000017005 +3723411012 20190131 1 900000000000207008 773400009 en 900000000000550004 A rare genetic syndromic intellectual disability disorder with a variable phenotypic presentation. Typical characteristics are microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to profound intellectual disability, hypotonia and a distinctive facies that includes prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Caused by heterozygous mutation in the ASXL3 gene on chromosome 18q12. 900000000000017005 +3723415015 20190131 1 900000000000207008 773404000 en 900000000000550004 A rare genetic immuno-osseous dysplasia disorder with characteristics of pre and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly). Also associated are humeral immunodeficiency with inability to generate specific antibodies and low circulating B-cells, craniofacial dysmorphism that typically includes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip. There is evidence the disease is caused by compound heterozygous mutation in the RNU4ATAC gene on chromosome 2q14. 900000000000017005 +3723418018 20190131 1 900000000000207008 773405004 en 900000000000550004 A rare genetic syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, and abnormal central nervous system myelination or corpus callosum agenesis. There is evidence the disease is caused by homozygous mutation in the ADAT3 gene on chromosome 19p13. 900000000000017005 +3723419014 20190131 1 900000000000207008 773405004 en 900000000000550004 A rare genetic syndromic intellectual disability disorder characterised by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioural problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, and abnormal central nervous system myelination or corpus callosum agenesis. There is evidence the disease is caused by homozygous mutation in the ADAT3 gene on chromosome 19p13. 900000000000017005 +3723424012 20190131 1 900000000000207008 773406003 en 900000000000550004 A rare genetic premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13. 900000000000017005 +3723425013 20190131 1 900000000000207008 773406003 en 900000000000550004 A rare genetic premature ageing disease characterised by sensorineural deafness, generalised lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridaemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13. 900000000000017005 +3723446016 20190131 1 900000000000207008 773412008 en 900000000000550004 Traditional medicine is the sum total of the knowledge, skill, and practices based on the theories, beliefs, and experiences indigenous to different cultures, whether explicable or not, used in the maintenance of health as well as in the prevention, diagnosis, improvement or treatment of physical and mental illness. 900000000000017005 +3723462010 20190131 1 900000000000207008 773414009 en 900000000000550004 A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. Caused by homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. 900000000000017005 +3723467016 20190131 1 900000000000207008 773415005 en 900000000000550004 A rare genetic neurometabolic disease with characteristics of severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (for example blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed central nervous system myelination and ventriculomegaly). 900000000000017005 +3723471018 20190131 1 900000000000207008 773416006 en 900000000000550004 A rare syndromic intellectual disability disorder with characteristics of moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly) and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed. 900000000000017005 +3723478012 20190131 1 900000000000207008 773418007 en 900000000000550004 A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs. 900000000000017005 +3723486012 20190131 1 900000000000207008 773419004 en 900000000000550004 A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition. Caused by homozygous mutation in the TTI2 gene on chromosome 8p12. 900000000000017005 +3723487015 20190131 1 900000000000207008 773419004 en 900000000000550004 A rare genetic syndromic intellectual disability disorder characterised by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioural disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition. Caused by homozygous mutation in the TTI2 gene on chromosome 8p12. 900000000000017005 +3723492018 20190131 1 900000000000207008 773421009 en 900000000000550004 A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioural abnormalities. 900000000000017005 +3723493011 20190131 1 900000000000207008 773421009 en 900000000000550004 A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities. 900000000000017005 +3723496015 20190131 1 900000000000207008 773422002 en 900000000000550004 A rare genetic coagulation disorder characterised by easy bruising (without haemarthrosis or spontaneous haematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors and normal protein C activity. 900000000000017005 +3723497012 20190131 1 900000000000207008 773422002 en 900000000000550004 A rare genetic coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors and normal protein C activity. 900000000000017005 +3723501019 20190131 1 900000000000207008 773423007 en 900000000000550004 A rare hereditary mitochondrial oxidative phosphorylation disorder characterised by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycaemia, dehydration, vomiting, seizures, and a risk of multiple organ failure. 900000000000017005 +3723502014 20190131 1 900000000000207008 773423007 en 900000000000550004 A rare hereditary mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure. 900000000000017005 +3723510010 20190131 1 900000000000207008 773425000 en 900000000000550004 A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. 900000000000017005 +3723514018 20190131 1 900000000000207008 773426004 en 900000000000550004 A rare genetic premature ageing syndrome characterised by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (such as premature thinning and greying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies. 900000000000017005 +3723515017 20190131 1 900000000000207008 773426004 en 900000000000550004 A rare genetic premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (such as premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies. 900000000000017005 +3723692013 20190131 1 900000000000207008 773488000 en 900000000000550004 A rare genetic form of primary immunodeficiency with characteristics of growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. Caused by homozygous mutation in the MALT1 gene on chromosome 18q21. 900000000000017005 +3723695010 20190131 1 900000000000207008 773489008 en 900000000000550004 A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21. 900000000000017005 +3723696011 20190131 1 900000000000207008 773489008 en 900000000000550004 A rare hereditary hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21. 900000000000017005 +3723707017 20190131 1 900000000000207008 773492007 en 900000000000550004 A rare neurometabolic disease characterised by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinaemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. 900000000000017005 +3723708010 20190131 1 900000000000207008 773492007 en 900000000000550004 A rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. 900000000000017005 +3723712016 20190131 1 900000000000207008 773493002 en 900000000000550004 A rare genetic syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported. 900000000000017005 +3723713014 20190131 1 900000000000207008 773493002 en 900000000000550004 A rare genetic syndromic intellectual disability characterised by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolaemia and hypertension has also been reported. 900000000000017005 +3723719013 20190131 1 900000000000207008 773494008 en 900000000000550004 A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. 900000000000017005 +3723723017 20190131 1 900000000000207008 773495009 en 900000000000550004 A rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus. 900000000000017005 +3723724011 20190131 1 900000000000207008 773495009 en 900000000000550004 A rare hereditary ataxia characterised by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalised muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus. 900000000000017005 +3723729018 20190131 1 900000000000207008 773497001 en 900000000000550004 A rare hereditary cerebral malformation with epilepsy syndrome with characteristics of severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. 900000000000017005 +3723737014 20190131 1 900000000000207008 773498006 en 900000000000550004 A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. 900000000000017005 +3723739012 20190131 1 900000000000207008 773498006 en 900000000000550004 A rare hereditary ataxia characterized by early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. 900000000000017005 +3723742018 20190131 1 900000000000207008 773501006 en 900000000000550004 A rare hereditary basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimeters big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12. 900000000000017005 +3723745016 20190131 1 900000000000207008 773501006 en 900000000000550004 A rare hereditary basal epidermolysis bullosa simplex characterised by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimetres big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12. 900000000000017005 +3723752019 20190131 1 900000000000207008 773503009 en 900000000000550004 A rare hereditary basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22. 900000000000017005 +3723753012 20190131 1 900000000000207008 773503009 en 900000000000550004 A rare hereditary basal epidermolysis bullosa simplex characterised by mild, generalised trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22. 900000000000017005 +3724030012 20190131 1 900000000000207008 773577009 en 900000000000550004 A rare genetic corneal dystrophy disorder with characteristics of corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening. 900000000000017005 +3724032016 20190131 1 900000000000207008 773581009 en 900000000000550004 A rare genetic syndromic intellectual disability syndrome with characteristics of mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed. 900000000000017005 +3724033014 20190131 1 900000000000207008 773582002 en 900000000000550004 A rare viral infection disorder caused by the Hendra virus with characteristics of the onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (for example vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported. 900000000000017005 +3724034015 20190131 1 900000000000207008 773583007 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. 900000000000017005 +3724042019 20190131 1 900000000000207008 773547003 en 900000000000550004 A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain. 900000000000017005 +3724046016 20190131 1 900000000000207008 773548008 en 900000000000550004 A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. 900000000000017005 +3724049011 20190131 1 900000000000207008 773549000 en 900000000000550004 A rare genetic disorder of metabolite absorption or transport with characteristics of persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances. 900000000000017005 +3724055018 20190131 1 900000000000207008 773551001 en 900000000000550004 A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21. 900000000000017005 +3724058016 20190131 1 900000000000207008 773552008 en 900000000000550004 A rare genetic syndromic intellectual disability disorder characterised by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioural anomalies (for example autistic behaviour, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22. 900000000000017005 +3724059012 20190131 1 900000000000207008 773552008 en 900000000000550004 A rare genetic syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomalies (for example autistic behavior, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22. 900000000000017005 +3724063017 20190131 1 900000000000207008 773553003 en 900000000000550004 A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. There is evidence the disease is caused by homozygous mutation in the COG6 gene on chromosome 13q14. 900000000000017005 +3724069018 20190131 1 900000000000207008 773554009 en 900000000000550004 A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13. 900000000000017005 +3724077019 20190131 1 900000000000207008 773555005 en 900000000000550004 A rare genetic neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Caused by homozygous or compound heterozygous mutation in the BSCL2 gene on chromosome 11q13. 900000000000017005 +3724078012 20190131 1 900000000000207008 773555005 en 900000000000550004 A rare genetic neurodegenerative disorder characterised by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridaemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Caused by homozygous or compound heterozygous mutation in the BSCL2 gene on chromosome 11q13. 900000000000017005 +3724081019 20190131 1 900000000000207008 773556006 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion. 900000000000017005 +3724085011 20190131 1 900000000000207008 773557002 en 900000000000550004 A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary haemangioma. 900000000000017005 +3724086012 20190131 1 900000000000207008 773557002 en 900000000000550004 A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary hemangioma. 900000000000017005 +3724262017 20190131 1 900000000000207008 773576000 en 900000000000550004 A rare genetic metabolite absorption and transport disorder characterised by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolaemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23. 900000000000017005 +3724263010 20190131 1 900000000000207008 773576000 en 900000000000550004 A rare genetic metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23. 900000000000017005 +3724270010 20190131 1 900000000000207008 773578004 en 900000000000550004 A rare genetic bone developmental disorder characterised by generalised vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers. 900000000000017005 +3724271014 20190131 1 900000000000207008 773578004 en 900000000000550004 A rare genetic bone developmental disorder characterized by generalized vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers. 900000000000017005 +3724305015 20190131 1 900000000000207008 773587008 en 900000000000550004 A rare X-linked syndromic intellectual disability disorder with characteristics of profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with over folded helix) and large testes. There is evidence the disease is caused by mutation in the CLIC2 gene on chromosome Xq28. 900000000000017005 +3724839014 20190131 1 900000000000207008 773584001 en 900000000000550004 A rare genetic disease with characteristics of symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. 900000000000017005 +3724841010 20190131 1 900000000000207008 773579007 en 900000000000550004 A rare genetic intestinal disease characterised by early-onset chronic non-infectious, non-bloody, watery diarrhoea associated with protein-losing enteropathy, which results in hypoalbuminaemia, hypogammaglobulinaemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhoea, failure to thrive, recurrent infections and oedema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene. 900000000000017005 +3724842015 20190131 1 900000000000207008 773579007 en 900000000000550004 A rare genetic intestinal disease characterized by early-onset chronic non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy, which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene. 900000000000017005 +3724843013 20190131 1 900000000000207008 773575001 en 900000000000550004 A rare genetic oculocutaneous disorder characterized by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. White forelock, premature graying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect. 900000000000017005 +3724843013 20211130 0 900000000000207008 773575001 en 900000000000550004 A rare genetic oculocutaneous disorder characterized by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. White forelock, premature graying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect. 900000000000017005 +3724844019 20190131 1 900000000000207008 773575001 en 900000000000550004 A rare genetic oculocutaneous disorder characterised by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalised hypopigmentation of the skin. White forelock, premature greying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect. 900000000000017005 +3724844019 20211130 0 900000000000207008 773575001 en 900000000000550004 A rare genetic oculocutaneous disorder characterised by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalised hypopigmentation of the skin. White forelock, premature greying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect. 900000000000017005 +3724849012 20190131 1 900000000000207008 773610007 en 900000000000550004 A rare genetic syndromic deafness with characteristics of severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated. Caused by homozygous or compound heterozygous mutation in the GPSM2 gene on chromosome 1p13. 900000000000017005 +3724852016 20190131 1 900000000000207008 773621003 en 900000000000550004 A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature. 900000000000017005 +3724856018 20190131 1 900000000000207008 773622005 en 900000000000550004 A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. 900000000000017005 +3724860015 20190131 1 900000000000207008 773623000 en 900000000000550004 A rare developmental defect during embryogenesis with characteristics of ventral, unilateral or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (spigelian hernia), associated with ipsilateral or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent. 900000000000017005 +3724863018 20190131 1 900000000000207008 773624006 en 900000000000550004 A rare odontogenic neoplasm with characteristics of aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The neoplasm may metastasize, most commonly to the cervical lymph nodes and the lungs. 900000000000017005 +3724868010 20190131 1 900000000000207008 773625007 en 900000000000550004 A rare genetic primary bone dysplasia disorder with characteristics of severe pre and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears) early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21. 900000000000017005 +3724871019 20190131 1 900000000000207008 773626008 en 900000000000550004 An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, short webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. 900000000000017005 +3724876012 20190131 1 900000000000207008 773627004 en 900000000000550004 A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. 900000000000017005 +3724877015 20190131 1 900000000000207008 773627004 en 900000000000550004 A rare genetic central nervous system malformation syndrome characterised by bilateral congenital cataracts and severe haemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalised spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. 900000000000017005 +3724883017 20190131 1 900000000000207008 773628009 en 900000000000550004 A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21. 900000000000017005 +3724886013 20190131 1 900000000000207008 773629001 en 900000000000550004 A rare benign nail tumor originating in the nail matrix characterized by localized or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter hemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail dystrophy and dorsal pterygium may be associated. Occasionally a pigmented lesion has been reported. 900000000000017005 +3724887016 20190131 1 900000000000207008 773629001 en 900000000000550004 A rare benign nail tumour originating in the nail matrix characterised by localised or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter haemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail dystrophy and dorsal pterygium may be associated. Occasionally a pigmented lesion has been reported. 900000000000017005 +3725338016 20190131 1 900000000000207008 773641008 en 900000000000550004 A rare benign nail tumour originating in the nail matrix characterised by localised pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumour with endo-keratinisation in the deep portion and concentrically arranged nests of pre-keratogenous and keratogenous cells. 900000000000017005 +3725339012 20190131 1 900000000000207008 773641008 en 900000000000550004 A rare benign nail tumor originating in the nail matrix characterized by localized pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumor with endo-keratinization in the deep portion and concentrically arranged nests of pre-keratogenous and keratogenous cells. 900000000000017005 +3725340014 20190131 1 900000000000207008 773642001 en 900000000000550004 A rare benign peripheral nerve sheath tumour disorder characterised by multiple painful mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa. Also associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia and multiple subcutaneous and submucosal nodules in the lips and sublingual zone. 900000000000017005 +3725341013 20190131 1 900000000000207008 773642001 en 900000000000550004 A rare benign peripheral nerve sheath tumor disorder characterized by multiple painful mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa. Also associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia and multiple subcutaneous and submucosal nodules in the lips and sublingual zone. 900000000000017005 +3725347012 20190131 1 900000000000207008 773643006 en 900000000000550004 A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. 900000000000017005 +3725350010 20190131 1 900000000000207008 773644000 en 900000000000550004 A rare systemic disease characterised by a neonatal progeroid appearance (not associated with other manifestations of premature ageing) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalised extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21. 900000000000017005 +3725351014 20190131 1 900000000000207008 773644000 en 900000000000550004 A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21. 900000000000017005 +3725357013 20190131 1 900000000000207008 773645004 en 900000000000550004 A rare genetic endocrine disease with characteristics of early-onset (before the age of five years old) excessive acceleration of linear growth and body size due to pituitary mixed growth hormone and prolactin secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (for example coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. 900000000000017005 +3725364010 20190131 1 900000000000207008 773646003 en 900000000000550004 A rare hereditary immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23. 900000000000017005 +3725365011 20190131 1 900000000000207008 773646003 en 900000000000550004 A rare hereditary immune deficiency with skin involvement characterised by early-onset cold urticaria after generalised exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23. 900000000000017005 +3725378011 20190131 1 900000000000207008 773647007 en 900000000000550004 A rare genetic renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene. 900000000000017005 +3725379015 20190131 1 900000000000207008 773647007 en 900000000000550004 A rare genetic renal disease characterised by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anaemia due to beta-thalassaemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene. 900000000000017005 +3725386011 20190131 1 900000000000207008 773648002 en 900000000000550004 A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25. 900000000000017005 +3725387019 20190131 1 900000000000207008 773648002 en 900000000000550004 A rare genetic lethal neurometabolic disease characterised by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalised muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25. 900000000000017005 +3725393010 20190131 1 900000000000207008 773649005 en 900000000000550004 A rare genetic hepatic disease characterised by massive hepatomegaly, moderate to severe transient hypertriglyceridaemia and hepatic steatosis (followed by fibrosis) manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalisation of triglyceride serum levels occurs with advancing age. Caused by homozygous or compound heterozygous mutation in the GPD1 gene on chromosome 12q13. 900000000000017005 +3725394016 20190131 1 900000000000207008 773649005 en 900000000000550004 A rare genetic hepatic disease characterized by massive hepatomegaly, moderate to severe transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis) manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age. Caused by homozygous or compound heterozygous mutation in the GPD1 gene on chromosome 12q13. 900000000000017005 +3725559012 20190131 1 900000000000207008 773663004 en 900000000000550004 A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated. 900000000000017005 +3725562010 20190131 1 900000000000207008 773663004 en 900000000000550004 A rare potentially life-threatening genetic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatremia, hypochloremia), respiratory failure and late-onset neuroendocrine tumors may also be associated. 900000000000017005 +3725569018 20190131 1 900000000000207008 773664005 en 900000000000550004 A rare genetic endocrine disease characterised by the association of common variable immunodeficiency manifesting with hypogammaglobulinaemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24. 900000000000017005 +3725570017 20190131 1 900000000000207008 773664005 en 900000000000550004 A rare genetic endocrine disease characterized by the association of common variable immunodeficiency manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24. 900000000000017005 +3725576011 20190131 1 900000000000207008 773665006 en 900000000000550004 A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. 900000000000017005 +3725583016 20190131 1 900000000000207008 773666007 en 900000000000550004 A rare genetic endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypo ketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. There is evidence the disease can be caused by heterozygous mutation in the AKT2 gene on chromosome 19q13. 900000000000017005 +3725584010 20190131 1 900000000000207008 773666007 en 900000000000550004 A rare genetic endocrine disease characterised by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinaemic (or hypo ketotic hypo-fatty-acidaemic) hypoglycaemia in infancy, which results in episodes of reduced consciousness and seizures. There is evidence the disease can be caused by heterozygous mutation in the AKT2 gene on chromosome 19q13. 900000000000017005 +3725589017 20190131 1 900000000000207008 773667003 en 900000000000550004 A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. 900000000000017005 +3725596015 20190131 1 900000000000207008 773668008 en 900000000000550004 A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of ataxia, generalised developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35. 900000000000017005 +3725597012 20190131 1 900000000000207008 773668008 en 900000000000550004 A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35. 900000000000017005 +3725605015 20190131 1 900000000000207008 773670004 en 900000000000550004 A rare hereditary syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism. 900000000000017005 +3725606019 20190131 1 900000000000207008 773670004 en 900000000000550004 A rare hereditary syndromic intellectual disability characterised by cognitive impairment, behavioural and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism. 900000000000017005 +3725614013 20190131 1 900000000000207008 773672007 en 900000000000550004 A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. 900000000000017005 +3725615014 20190131 1 900000000000207008 773672007 en 900000000000550004 A rare genetic bone development disorder characterised by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralisation defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. 900000000000017005 +3725619015 20190131 1 900000000000207008 773673002 en 900000000000550004 A rare potentially fatal genetic visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22. 900000000000017005 +3725620014 20190131 1 900000000000207008 773673002 en 900000000000550004 A rare potentially fatal genetic visceral malformation syndrome characterised by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinaemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22. 900000000000017005 +3725778014 20190131 1 900000000000207008 773688007 en 900000000000550004 A rare neuroinflammatory disorder with characteristics of brainstem-predominant encephalomyelitis, which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesia), as well as brainstem, myelopathy and cognitive findings that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology. 900000000000017005 +3725795018 20190131 1 900000000000207008 773690008 en 900000000000550004 A rare developmental defect of the eye with characteristics of bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma. 900000000000017005 +3725800011 20190131 1 900000000000207008 773691007 en 900000000000550004 A rare idiopathic skin disease with characteristics of widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohidrosis. Nail anomalies, neurodevelopmental and ophthalmologic abnormalities, tongue atrophy and preterm birth, with or without history of chorioamnionitis, are commonly associated. 900000000000017005 +3725801010 20190131 1 900000000000207008 773692000 en 900000000000550004 A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. 900000000000017005 +3725803013 20190131 1 900000000000207008 773692000 en 900000000000550004 A rare junctional epidermolysis bullosa subtype characterised by late-onset blistering surrounded by erythema and localised on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. 900000000000017005 +3725807014 20190131 1 900000000000207008 773693005 en 900000000000550004 A rare genetic primary bone dysplasia with characteristics of disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay, markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed. There is evidence the disease is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15. 900000000000017005 +3725819018 20190131 1 900000000000207008 773697006 en 900000000000550004 A rare acquired dermis elastic tissue disorder characterised by asymptomatic palpable hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant wavy, fragmented and aggregated basophilic elastic fibres in the reticular dermis. 900000000000017005 +3725820012 20190131 1 900000000000207008 773697006 en 900000000000550004 A rare acquired dermis elastic tissue disorder characterized by asymptomatic palpable hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant wavy, fragmented and aggregated basophilic elastic fibers in the reticular dermis. 900000000000017005 +3725825019 20190131 1 900000000000207008 773698001 en 900000000000550004 A rare acquired dermis elastic tissue disorder with characteristics of a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits. 900000000000017005 +3725828017 20190131 1 900000000000207008 773699009 en 900000000000550004 A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. 900000000000017005 +3725828017 20211130 0 900000000000207008 773699009 en 900000000000550004 A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. 900000000000017005 +3725829013 20190131 1 900000000000207008 773699009 en 900000000000550004 A rare genetic syndromic intellectual disability disorder characterised by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behaviour and stereotypic movements are commonly associated. 900000000000017005 +3725829013 20211130 0 900000000000207008 773699009 en 900000000000550004 A rare genetic syndromic intellectual disability disorder characterised by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behaviour and stereotypic movements are commonly associated. 900000000000017005 +3725832011 20190131 1 900000000000207008 773700005 en 900000000000550004 A rare syndromic nail anomaly disorder with characteristics of the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with longitudinal furrows on electronic microscopy. 900000000000017005 +3725852012 20190131 1 900000000000207008 773702002 en 900000000000550004 A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. 900000000000017005 +3725853019 20190131 1 900000000000207008 773702002 en 900000000000550004 A rare severe genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. 900000000000017005 +3725999016 20190131 1 900000000000207008 773726000 en 900000000000550004 A rare genetic sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated. 900000000000017005 +3726001015 20190131 1 900000000000207008 773726000 en 900000000000550004 A rare genetic sterol metabolism disorder characterised by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridaemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated. 900000000000017005 +3726006013 20190131 1 900000000000207008 773727009 en 900000000000550004 A rare hereditary non-syndromic form of vitreoretinopathy with characteristics of retinal tears due to abnormal vitreous and commonly present refractive errors. No other signs or symptoms of Stickler syndrome are present. Can be caused by mutation in the COL2A1 gene. 900000000000017005 +3726010011 20190131 1 900000000000207008 773728004 en 900000000000550004 A rare genetic adrenal disease with characteristics of diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension. Can be caused by heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. 900000000000017005 +3726014019 20190131 1 900000000000207008 773729007 en 900000000000550004 A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene. 900000000000017005 +3726015018 20190131 1 900000000000207008 773729007 en 900000000000550004 A rare progressive muscular dystrophy characterised by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalised hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene. 900000000000017005 +3726022014 20190131 1 900000000000207008 773730002 en 900000000000550004 An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. 900000000000017005 +3726023016 20190131 1 900000000000207008 773730002 en 900000000000550004 An extremely rare primary bone dysplasia with increased bone density disorder characterised by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinaemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), haematologic abnormalities with bone marrow failure (for example anaemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. 900000000000017005 +3726030010 20190131 1 900000000000207008 773732005 en 900000000000550004 A rare rheumatologic disease with the occurrence of inflammatory arthritis in association with large erythematous symmetrical cutaneous lesions (ranging from typical but infrequent cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes. 900000000000017005 +3726034018 20190131 1 900000000000207008 773733000 en 900000000000550004 An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities namely oligo-ectrosyndactyly may be associated. 900000000000017005 +3726045015 20190131 1 900000000000207008 773735007 en 900000000000550004 A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. 900000000000017005 +3726061018 20190131 1 900000000000207008 773737004 en 900000000000550004 A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22. 900000000000017005 +3726066011 20190131 1 900000000000207008 773738009 en 900000000000550004 A rare infectious disease with characteristics of familial primary chronic Epstein-Barr virus infection, which typically manifests with persistent mononucleosis-like signs and symptoms in the absence of secondary immunodeficiency. 900000000000017005 +3726184011 20190131 1 900000000000207008 773749003 en 900000000000550004 A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. 900000000000017005 +3726276019 20190131 1 900000000000207008 773750003 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. 900000000000017005 +3726289013 20190131 1 900000000000207008 773768000 en 900000000000550004 A rare congenital limb malformation syndrome with characteristics of facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970. 900000000000017005 +3726293019 20190131 1 900000000000207008 773769008 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. 900000000000017005 +3726296010 20190131 1 900000000000207008 773770009 en 900000000000550004 An extremely rare developmental defect during embryogenesis malformation syndrome with characteristics of bands of extensile tissue connecting the margins of the upper and lower eyelids in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993. 900000000000017005 +3726302015 20190131 1 900000000000207008 773771008 en 900000000000550004 A rare genetic refraction anomaly disorder with characteristics of non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness. 900000000000017005 +3726305018 20190131 1 900000000000207008 773772001 en 900000000000550004 A rare hereditary neurologic disease with characteristics of early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits. 900000000000017005 +3726310019 20190131 1 900000000000207008 773773006 en 900000000000550004 A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. 900000000000017005 +3726318014 20190131 1 900000000000207008 773774000 en 900000000000550004 An extremely rare aggressive primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium. Macroscopic characteristics are a bulky frequently polypoid mass with abundant necrosis located in the uterus. Histological characteristics are rosette-like and cord-like structures consisting of small rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and abdominal pain, especially in later stages of the disease. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome such as retinopathy or Cushing syndrome due to ectopic ACTH production may be associated. 900000000000017005 +3726332011 20190131 1 900000000000207008 773775004 en 900000000000550004 A rare aggressive primary cervical neoplasm originating from neuroendocrine cells present in the lining epithelium of the cervix. Macroscopic characteristics are usually large lesions sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent. 900000000000017005 +3727140016 20190131 1 900000000000207008 773984007 en 900000000000550004 A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. 900000000000017005 +3727393011 20190131 1 900000000000207008 773985008 en 900000000000550004 A rare primary bone dysplasia with characteristics of cone-shaped epiphyses of the phalanges, hyperextensibility and hyper-flexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980. 900000000000017005 +3727472012 20190131 1 900000000000207008 773986009 en 900000000000550004 A rare life-threatening cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period. 900000000000017005 +3727477018 20190131 1 900000000000207008 773986009 en 900000000000550004 A rare life-threatening cutaneous disease characterised by a keratinocytic epidermal naevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period. 900000000000017005 +3727480017 20190131 1 900000000000207008 773987000 en 900000000000550004 A rare endocrine disease with characteristics of the appearance of transient hypothyroidism usually in preterm newborns following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates. 900000000000017005 +3727491012 20190131 1 900000000000207008 773989002 en 900000000000550004 A rare acquired pituitary hormone deficiency with characteristics of secondary adrenal insufficiency with normal secretion of anterior pituitary hormones, except for adrenocorticotropic hormone (ACTH). Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described. 900000000000017005 +3727492017 20190131 1 900000000000207008 773989002 en 900000000000550004 A rare acquired pituitary hormone deficiency with characteristics of secondary adrenal insufficiency with normal secretion of anterior pituitary hormones, except for adrenocorticotropic hormone (ACTH). Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycaemia and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described. 900000000000017005 +3727493010 20190131 1 900000000000207008 773990006 en 900000000000550004 A rare neurologic disease with characteristics of persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neuro-physical or histopathological evidence of neuromuscular disease using available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels. 900000000000017005 +3727498018 20190131 1 900000000000207008 773991005 en 900000000000550004 A rare potentially sight-threatening ocular disease not attributed to any specific ocular or systemic cause. The disease has characteristics of focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (such as choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular oedema and choroidal neovascularisation) has been reported. 900000000000017005 +3727499014 20190131 1 900000000000207008 773991005 en 900000000000550004 A rare potentially sight-threatening ocular disease not attributed to any specific ocular or systemic cause. The disease has characteristics of focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (such as choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported. 900000000000017005 +3727502013 20190131 1 900000000000207008 773992003 en 900000000000550004 A rare acquired eye disease with characteristics of progressive visual loss due to bilateral juxta foveolar capillary occlusions, capillary telangiectasia and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease. 900000000000017005 +3727507019 20190131 1 900000000000207008 773993008 en 900000000000550004 A rare acquired eye disease with characteristics of unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates. 900000000000017005 +3727508012 20190131 1 900000000000207008 773993008 en 900000000000550004 A rare acquired eye disease with characteristics of unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular oedema with hard exudates. 900000000000017005 +3727511013 20190131 1 900000000000207008 773994002 en 900000000000550004 A rare acquired ocular disease with characteristics of migratory or non-migratory horizontal linear stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated. 900000000000017005 +3727512018 20190131 1 900000000000207008 773994002 en 900000000000550004 A rare acquired ocular disease with characteristics of migratory or non-migratory horizontal linear stromal infiltrates that may heal spontaneously. Minimal vascularisation and scarring may be observed but vision loss is not associated. 900000000000017005 +3727747011 20190131 1 900000000000207008 771507004 en 900000000000550004 An infant born after 32 completed weeks of gestation and before 37 completed weeks of gestation. 900000000000017005 +3727849017 20190131 1 900000000000207008 774065001 en 900000000000550004 A rare genetic cutaneous disorder with characteristics of leukonychia and multiple recurrent pilar cysts associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. 900000000000017005 +3727852013 20190131 1 900000000000207008 774066000 en 900000000000550004 A rare genetic subcutaneous tissue disorder with the presence of benign usually multiple subcutaneous tumors. The tumors are composed of adipose tissue and blood vessels typically manifesting as yellow firm circumscribed 1-4 cm in diameter tumors located in the arms, legs and trunk with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures) in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously. 900000000000017005 +3727853015 20190131 1 900000000000207008 774066000 en 900000000000550004 A rare genetic subcutaneous tissue disorder with the presence of benign usually multiple subcutaneous tumours. The tumours are composed of adipose tissue and blood vessels typically manifesting as yellow firm circumscribed 1-4 cm in diameter tumours located in the arms, legs and trunk with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures) in several members of a single family. Tumours may be tender or mildly painful when palpated and do not regress spontaneously. 900000000000017005 +3727865016 20190131 1 900000000000207008 774068004 en 900000000000550004 A rare syndromic intellectual disability characterised by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnoea, mild dysmorphic facial features and behavioural abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36. 900000000000017005 +3727866015 20190131 1 900000000000207008 774068004 en 900000000000550004 A rare syndromic intellectual disability characterized by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36. 900000000000017005 +3727870011 20190131 1 900000000000207008 774069007 en 900000000000550004 A rare genetic neurodegenerative disease with characteristics of dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioural changes including apathy, anxiety and delusions. 900000000000017005 +3727871010 20190131 1 900000000000207008 774069007 en 900000000000550004 A rare genetic neurodegenerative disease with characteristics of dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes including apathy, anxiety and delusions. 900000000000017005 +3727875018 20190131 1 900000000000207008 774070008 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported. 900000000000017005 +3727879012 20190131 1 900000000000207008 774071007 en 900000000000550004 A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22. 900000000000017005 +3727880010 20190131 1 900000000000207008 774071007 en 900000000000550004 A rare genetic haematologic disorder characterised by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22. 900000000000017005 +3727903013 20190131 1 900000000000207008 774080007 en 900000000000550004 A very rare secondary neonatal autoimmune disease with characteristics of neonatal-onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated. 900000000000017005 +3727908016 20190131 1 900000000000207008 774082004 en 900000000000550004 A very rare secondary neonatal autoimmune disease characterised by generalised weakness, severe hypotonia, absent or reduced deep tendon reflexes and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy. 900000000000017005 +3727909012 20190131 1 900000000000207008 774082004 en 900000000000550004 A very rare secondary neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy. 900000000000017005 +3727913017 20190131 1 900000000000207008 774083009 en 900000000000550004 A very rare secondary neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated. 900000000000017005 +3727914011 20190131 1 900000000000207008 774083009 en 900000000000550004 A very rare secondary neonatal autoimmune disease characterised by onset of haemolytic anaemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated. 900000000000017005 +3727919018 20190131 1 900000000000207008 774084003 en 900000000000550004 A rare secondary neonatal autoimmune disease with characteristics of single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (for example cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations). 900000000000017005 +3727986015 20190131 1 900000000000207008 774102003 en 900000000000550004 A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. 900000000000017005 +3727987012 20190131 1 900000000000207008 774148007 en 900000000000550004 A rare genetic glycogen storage disorder with characteristics of polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive usually dilated cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and auto-inflammation presenting with recurrent bacterial infections have also been reported. Caused by homozygous or compound heterozygous mutation in the RBCK1 gene on chromosome 20p13. 900000000000017005 +3728136011 20190131 1 900000000000207008 774147002 en 900000000000550004 A rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. 900000000000017005 +3728137019 20190131 1 900000000000207008 774147002 en 900000000000550004 A rare subtype of axonal hereditary motor and sensory neuropathy characterised by early-onset axial hypotonia, generalised muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. 900000000000017005 +3728145012 20190131 1 900000000000207008 774149004 en 900000000000550004 A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self-injury and unexplained crying episodes. 900000000000017005 +3728146013 20190131 1 900000000000207008 774149004 en 900000000000550004 A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioural disturbances, such as self-injury and unexplained crying episodes. 900000000000017005 +3728149018 20190131 1 900000000000207008 774150004 en 900000000000550004 A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27. 900000000000017005 +3728153016 20190131 1 900000000000207008 774151000 en 900000000000550004 A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrhoeic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth. 900000000000017005 +3728154010 20190131 1 900000000000207008 774151000 en 900000000000550004 A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth. 900000000000017005 +3728158013 20190131 1 900000000000207008 774152007 en 900000000000550004 A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. 900000000000017005 +3728159017 20190131 1 900000000000207008 774152007 en 900000000000550004 A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fibre layer with loss of optic nerve fibres manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. 900000000000017005 +3728162019 20190131 1 900000000000207008 774153002 en 900000000000550004 A rare genetic neuromuscular disease characterised by normokalaemic episodes of painful muscle cramping followed by progressive permanent flaccid weakness. Triggered by stress, cold and exercise and associated with myopathic myopathy and painful acute oedema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group. 900000000000017005 +3728163012 20190131 1 900000000000207008 774153002 en 900000000000550004 A rare genetic neuromuscular disease characterized by normokalemic episodes of painful muscle cramping followed by progressive permanent flaccid weakness. Triggered by stress, cold and exercise and associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group. 900000000000017005 +3728166016 20190131 1 900000000000207008 774154008 en 900000000000550004 A rare genetic neuromuscular disease with characteristics of acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset chronic slowly progressive distal axonal neuropathy. 900000000000017005 +3728171011 20190131 1 900000000000207008 774155009 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32. 900000000000017005 +3728337013 20190131 1 900000000000207008 774203000 en 900000000000550004 A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioral problems that may include autistic features, hyperactivity and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, short bulbous nose with broad tip, thick vermilion border, wide and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Caused by heterozygous mutation in the FOXP1 gene on chromosome 3p13. 900000000000017005 +3728338015 20190131 1 900000000000207008 774203000 en 900000000000550004 A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioural problems that may include autistic features, hyperactivity and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, short bulbous nose with broad tip, thick vermilion border, wide and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Caused by heterozygous mutation in the FOXP1 gene on chromosome 3p13. 900000000000017005 +3728341012 20190131 1 900000000000207008 774204006 en 900000000000550004 A rare genetic parenchymatous liver disease with characteristics of pre and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia. 900000000000017005 +3728342017 20190131 1 900000000000207008 774204006 en 900000000000550004 A rare genetic parenchymatous liver disease with characteristics of pre and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anaemia, and B-precursor acute lymphoblastic leukaemia. 900000000000017005 +3728345015 20190131 1 900000000000207008 774205007 en 900000000000550004 A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26. 900000000000017005 +3728346019 20190131 1 900000000000207008 774205007 en 900000000000550004 A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anaemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26. 900000000000017005 +3728349014 20190131 1 900000000000207008 774206008 en 900000000000550004 A rare neuroinflammatory disease characterised by the onset of ataxia, dysarthria and cerebral white matter changes that are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and eventually, death) is observed in the absence of haematopathology, cytokine overproduction, fever, hypertriglyceridaemia, hypofibrinogenaemia and hyperferritinemia. 900000000000017005 +3728350014 20190131 1 900000000000207008 774206008 en 900000000000550004 A rare neuroinflammatory disease characterized by the onset of ataxia, dysarthria and cerebral white matter changes that are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertriglyceridemia, hypofibrinogenemia and hyperferritinemia. 900000000000017005 +3728353011 20190131 1 900000000000207008 774207004 en 900000000000550004 A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32. 900000000000017005 +3728354017 20190131 1 900000000000207008 774207004 en 900000000000550004 A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32. 900000000000017005 +3728359010 20190131 1 900000000000207008 774208009 en 900000000000550004 A rare skin disease characterised by the association of sebaceous naevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic naevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. 900000000000017005 +3728361018 20190131 1 900000000000207008 774208009 en 900000000000550004 A rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. 900000000000017005 +3728369016 20190131 1 900000000000207008 774209001 en 900000000000550004 A rare skin disorder with characteristics of the co-occurrence of sebaceous naevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva. 900000000000017005 +3728370015 20190131 1 900000000000207008 774209001 en 900000000000550004 A rare skin disorder with characteristics of the co-occurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva. 900000000000017005 +3728375013 20190131 1 900000000000207008 774210006 en 900000000000550004 A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia as well as skeletal, ocular and neurological abnormalities have also been reported. 900000000000017005 +3728376014 20190131 1 900000000000207008 774210006 en 900000000000550004 A rare naevus disorder characterised by the presence of epidermal naevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal naevi, macrocephaly, body asymmetry, sacral pit and koilonychia as well as skeletal, ocular and neurological abnormalities have also been reported. 900000000000017005 +3728381017 20190131 1 900000000000207008 774211005 en 900000000000550004 A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. 900000000000017005 +3728387018 20190131 1 900000000000207008 774212003 en 900000000000550004 A rare genetic developmental defect of the eye disease with characteristics of childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupil and retinal detachment. There is evidence the disease is caused by homozygous mutation in the ADAMTS18 gene on chromosome 16q23. 900000000000017005 +3731998010 20190131 1 900000000000207008 775907000 en 900000000000550004 A rare genetic subtype of non-syndromic pontocerebellar hypoplasia with characteristics of progressive cerebellum and brainstem atrophy, corpus callosum hypo/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and on neuroimaging abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance and more variably interhemispheric cysts, ventriculomegaly and cerebral dysmyelination. There is evidence the disease is caused by homozygous mutation in the AMPD2 gene on chromosome 1p13. 900000000000017005 +3731998010 20210930 0 900000000000207008 775907000 en 900000000000550004 A rare genetic subtype of non-syndromic pontocerebellar hypoplasia with characteristics of progressive cerebellum and brainstem atrophy, corpus callosum hypo/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and on neuroimaging abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance and more variably interhemispheric cysts, ventriculomegaly and cerebral dysmyelination. There is evidence the disease is caused by homozygous mutation in the AMPD2 gene on chromosome 1p13. 900000000000017005 +3731999019 20190131 1 900000000000207008 775908005 en 900000000000550004 A rare genetic mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of infantile-onset severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported. Caused by homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. 900000000000017005 +3732000013 20190131 1 900000000000207008 776087007 en 900000000000550004 A rare genetic neurodegenerative disorder with characteristics of ventriculomegaly and progressive symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments). The disease manifests in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures. 900000000000017005 +3732001012 20190131 1 900000000000207008 776417008 en 900000000000550004 A rare genetic progeroid syndrome disorder with characteristics of a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose. There is evidence the disease is caused by heterozygous mutation in the PDGFRB gene on chromosome 5q32. 900000000000017005 +3732002017 20190131 1 900000000000207008 777998000 en 900000000000550004 A rare genetic dysostosis syndrome with characteristics of bilateral symmetrical preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26. 900000000000017005 +3732003010 20190131 1 900000000000207008 777999008 en 900000000000550004 A rare genetic leukodystrophy disorder with characteristics of diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia and motor developmental delay as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts. Caused by homozygous or compound heterozygous mutation in the DARS gene on chromosome 2q21. 900000000000017005 +3732607012 20190131 1 900000000000207008 778002005 en 900000000000550004 Encephalopathy caused by SCN2A mutation. SCN2A encodes the major subunit of voltage-gated sodium channels in excitatory neurons. Mutation may be associated with hereditary disease including autosomal dominant epilepsy syndrome and benign familial neonatal infantile seizures. De novo SCN2A mutations have been accepted to cause severe disorders including epileptic encephalopathies, intellectual disability without epilepsy, Ohtahara and West syndrome, epilepsy of infancy with migrating focal seizures (EIMFS). 900000000000017005 +3736328013 20190131 1 900000000000207008 775909002 en 900000000000550004 A rare genetic primary immunodeficiency disorder with characteristics of severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (for example developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Caused by homozygous mutation in the VPS45 gene on chromosome 1q. 900000000000017005 +3736329017 20190131 1 900000000000207008 775909002 en 900000000000550004 A rare genetic primary immunodeficiency disorder with characteristics of severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato/splenomegaly, thrombocytopenia, hypergammaglobulinaemia, anaemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (for example developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Caused by homozygous mutation in the VPS45 gene on chromosome 1q. 900000000000017005 +3736341012 20190131 1 900000000000207008 776416004 en 900000000000550004 A rare genetic mitochondrial disease with characteristics of early-onset progressive renal failure, manifesting with hyperuricaemia, hyponatraemia, hypomagnesaemia, hypochloraemic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and in some pancytopenia. Caused by homozygous mutation in the SARS2 gene, which encodes mitochondrial seryl-tRNA synthetase on chromosome 19q13.2. 900000000000017005 +3736342017 20190131 1 900000000000207008 776416004 en 900000000000550004 A rare genetic mitochondrial disease with characteristics of early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and in some pancytopenia. Caused by homozygous mutation in the SARS2 gene, which encodes mitochondrial seryl-tRNA synthetase on chromosome 19q13.2. 900000000000017005 +3736357012 20190131 1 900000000000207008 778000002 en 900000000000550004 A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioural abnormalities (ADHD, Asperger syndrome) have also been reported. 900000000000017005 +3736358019 20190131 1 900000000000207008 778000002 en 900000000000550004 A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported. 900000000000017005 +3736364014 20190131 1 900000000000207008 778001003 en 900000000000550004 A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13. 900000000000017005 +3736365010 20190131 1 900000000000207008 778001003 en 900000000000550004 A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behaviour, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13. 900000000000017005 +3736374012 20190131 1 900000000000207008 778003000 en 900000000000550004 A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease with characteristics of debilitating neuropathic pain associated with mild distal symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting or throbbing pain and intermittent paresthesia in toes, heels and ankles. 900000000000017005 +3736375013 20190131 1 900000000000207008 778003000 en 900000000000550004 A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease with characteristics of debilitating neuropathic pain associated with mild distal symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting or throbbing pain and intermittent paraesthesia in toes, heels and ankles. 900000000000017005 +3736380016 20190131 1 900000000000207008 778004006 en 900000000000550004 A mixed autoinflammatory and autoimmune syndrome disorder with characteristics of recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. Caused by heterozygous mutation in the PLCG2 gene on chromosome 16q. 900000000000017005 +3736385014 20190131 1 900000000000207008 778005007 en 900000000000550004 A rare midline cerebral malformation disorder with characteristics of duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinaemia, as well as associated congenital anomalies such as cleft lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumours, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular duplication of the odontoid process). 900000000000017005 +3736386010 20190131 1 900000000000207008 778005007 en 900000000000550004 A rare midline cerebral malformation disorder with characteristics of duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies such as cleft lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular duplication of the odontoid process). 900000000000017005 +3736391011 20190131 1 900000000000207008 778006008 en 900000000000550004 A rare genetic haematologic disorder characterised by bone marrow failure which manifests with aplastic anaemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12. 900000000000017005 +3736392016 20190131 1 900000000000207008 778006008 en 900000000000550004 A rare genetic hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12. 900000000000017005 +3736396018 20190131 1 900000000000207008 778007004 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations. 900000000000017005 +3736397010 20190131 1 900000000000207008 778007004 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations. 900000000000017005 +3736402014 20190131 1 900000000000207008 778008009 en 900000000000550004 A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated. 900000000000017005 +3736403016 20190131 1 900000000000207008 778008009 en 900000000000550004 A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralisation of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated. 900000000000017005 +3736407015 20190131 1 900000000000207008 778009001 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features. 900000000000017005 +3736413012 20190131 1 900000000000207008 778010006 en 900000000000550004 A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. 900000000000017005 +3736414018 20190131 1 900000000000207008 778010006 en 900000000000550004 A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. 900000000000017005 +3736424014 20190131 1 900000000000207008 778011005 en 900000000000550004 A rare complex spastic paraplegia with characteristics of early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory and some develop seizures and stereotypic laughter. 900000000000017005 +3736432018 20190131 1 900000000000207008 778012003 en 900000000000550004 A rare genetic disease with characteristics of pre and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additional features include childhood-onset central obesity, premature puberty and variable bone abnormalities (for example small hands and feet, slender long bones and craniofacial disproportion). 900000000000017005 +3737218010 20190131 1 900000000000207008 778021002 en 900000000000550004 A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. 900000000000017005 +3737219019 20190131 1 900000000000207008 778021002 en 900000000000550004 A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. 900000000000017005 +3737236010 20190131 1 900000000000207008 778022009 en 900000000000550004 A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. 900000000000017005 +3737237018 20190131 1 900000000000207008 778022009 en 900000000000550004 A type of Ehlers-Danlos syndrome characterised by generalised joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. 900000000000017005 +3737264017 20190131 1 900000000000207008 778023004 en 900000000000550004 A rare genetic systemic autoimmune disease with characteristics of failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognathia), hepato and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland. Caused by homozygous mutation in the ITCH gene on chromosome 20q11. 900000000000017005 +3737279012 20190131 1 900000000000207008 778024005 en 900000000000550004 A rare genetic primary immunodeficiency disorder with characteristics of profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dendritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developing myeloid neoplasms is associated. Caused by heterozygous mutation in the GATA2 gene on chromosome 3q21. 900000000000017005 +3737293017 20190131 1 900000000000207008 778025006 en 900000000000550004 A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation and minor facial dysmorphism). 900000000000017005 +3737307012 20190131 1 900000000000207008 778026007 en 900000000000550004 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of failure to thrive, severe developmental delay, severe postnatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphism (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro or micrognathia). Additional common features include neurologic abnormalities (hyper/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies. Caused by homozygous mutation in the FTO gene on chromosome 16q12. 900000000000017005 +3737314014 20190131 1 900000000000207008 778027003 en 900000000000550004 A rare genetic haematologic and neurologic disease characterised by chronic Coombs-negative haemolysis. The disease is associated with early-onset relapsing immune-mediated inflammatory axonal or demyelinating sensory-motor peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). 900000000000017005 +3737315010 20190131 1 900000000000207008 778027003 en 900000000000550004 A rare genetic hematologic and neurologic disease characterized by chronic Coombs-negative hemolysis. The disease is associated with early-onset relapsing immune-mediated inflammatory axonal or demyelinating sensory-motor peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). 900000000000017005 +3737327013 20190131 1 900000000000207008 778028008 en 900000000000550004 A rare genetic primary immunodeficiency due to a defect in adaptive immunity disorder with characteristics of severe immunodeficiency. The disease presents with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease such as alopecia universalis, erythrodermia and autoimmune thyroiditis and enteropathy. Caused by homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15. 900000000000017005 +3737334010 20190131 1 900000000000207008 778029000 en 900000000000550004 A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy. 900000000000017005 +3737340015 20190131 1 900000000000207008 778030005 en 900000000000550004 A rare pure or complex hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. 900000000000017005 +3737447018 20190131 1 900000000000207008 778045003 en 900000000000550004 A rare genetic primary immunodeficiency due to a defect in innate immunity disorder with characteristics of impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections. Caused by homozygous mutation in the STAT1 gene on chromosome 2q32. 900000000000017005 +3737448011 20190131 1 900000000000207008 778048001 en 900000000000550004 A rare genetic complex hereditary spastic paraplegia disorder with characteristics of adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. 900000000000017005 +3737481012 20190131 1 900000000000207008 778042000 en 900000000000550004 A rare genetic ocular disease with characteristics of congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life) and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. Caused by heterozygous mutation in the PAX6 gene on chromosome 11p13. 900000000000017005 +3737486019 20190131 1 900000000000207008 778043005 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from partial deletion of chromosome 17. The disease has highly variable manifestations ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), cafe-au-lait spots, retinal flecks and minor facial dysmorphism depending on the presence or absence of the Miller-Dieker critical region. 900000000000017005 +3737489014 20190131 1 900000000000207008 778044004 en 900000000000550004 A rare genetic dermis disorder with characteristics of slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (for example congenital cataract) and/or neurological abnormalities (for example intellectual disability, epilepsy, microcephaly, encephalopathy). 900000000000017005 +3737497019 20190131 1 900000000000207008 778046002 en 900000000000550004 A rare mixed functioning pituitary adenoma with characteristics of co-secretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinaemia. 900000000000017005 +3737499016 20190131 1 900000000000207008 778046002 en 900000000000550004 A rare mixed functioning pituitary adenoma with characteristics of co-secretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia. 900000000000017005 +3737501012 20190131 1 900000000000207008 778047006 en 900000000000550004 A rare epilepsy syndrome with characteristics of recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances. 900000000000017005 +3737503010 20190131 1 900000000000207008 778047006 en 900000000000550004 A rare epilepsy syndrome with characteristics of recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioural disturbances. 900000000000017005 +3737511017 20190131 1 900000000000207008 778049009 en 900000000000550004 A rare acquired eye disease with characteristics of unilateral or bilateral abnormal fluid accumulation within the suprachoroidal space. This results in internal choroidal elevation in the absence of any known cause such as decreased intraocular tension, intraocular neoplasm, intraocular inflammation or nanophthalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment. 900000000000017005 +3737515014 20190131 1 900000000000207008 778050009 en 900000000000550004 A rare skeletal muscle disease with characteristics of eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue in the absence of an identifiable causative factor (for example parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalized muscle weakness and pain, difficulties with walking, motor clumsiness, as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia. 900000000000017005 +3737516010 20190131 1 900000000000207008 778050009 en 900000000000550004 A rare skeletal muscle disease with characteristics of eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue in the absence of an identifiable causative factor (for example parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalised muscle weakness and pain, difficulties with walking, motor clumsiness, as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia. 900000000000017005 +3737519015 20190131 1 900000000000207008 778051008 en 900000000000550004 A rare genetic isolated palmoplantar keratoderma disorder with characteristics of focal hyperkeratotic lesions affecting the pressure and mechanical trauma bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12. 900000000000017005 +3737524017 20190131 1 900000000000012004 774158006 en 900000000000550004 Attribute used to assign the authorized product name. 900000000000017005 +3737525016 20190131 1 900000000000012004 774159003 en 900000000000550004 Attribute used to assign the holder of the marketing authorization or authorization for supply. 900000000000017005 +3737526015 20190131 1 900000000000012004 774160008 en 900000000000550004 Attribute used to assign the clinical drug that is contained in the packaged product. 900000000000017005 +3737527012 20190131 1 900000000000012004 774161007 en 900000000000550004 Attribute used to specify the amount or quantity of clinical drug present in the package. 900000000000017005 +3737528019 20190131 1 900000000000012004 774163005 en 900000000000550004 Attribute used to specify the units for the amount or quantity of clinical drug present in the package. 900000000000017005 +3737531018 20190131 1 900000000000207008 774167006 en 900000000000550004 The authorized product name. 900000000000017005 +3737532013 20190131 1 900000000000207008 774164004 en 900000000000550004 The holder of the marketing authorization or authorization for supply. 900000000000017005 +3737580011 20190131 1 900000000000207008 778060000 en 900000000000550004 A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34. 900000000000017005 +3737581010 20190131 1 900000000000207008 778060000 en 900000000000550004 A rare genetic neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent hemorrhagic and/or ischemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34. 900000000000017005 +3737587014 20190131 1 900000000000207008 778061001 en 900000000000550004 A rare genetic neurological disorder with characteristics of dissection of the cervical artery in various members of a single family, presenting with variable manifestations which range from asymptomatic to the triad of ipsilateral pain in the head, neck, and face, Horner syndrome and cerebral or retinal ischemic symptoms. Headache and cerebral ischemic features are most frequently observed. 900000000000017005 +3737588016 20190131 1 900000000000207008 778061001 en 900000000000550004 A rare genetic neurological disorder with characteristics of dissection of the cervical artery in various members of a single family, presenting with variable manifestations which range from asymptomatic to the triad of ipsilateral pain in the head, neck, and face, Horner syndrome and cerebral or retinal ischaemic symptoms. Headache and cerebral ischaemic features are most frequently observed. 900000000000017005 +3737591016 20190131 1 900000000000207008 778062008 en 900000000000550004 A rare genetic isolated palmoplantar keratoderma disorder with characteristics of non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with ortho hyperkeratosis featuring widening of the intercellular spaces and dis-adhesion of keratocytes in the upper epidermal layers. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12. 900000000000017005 +3737594012 20190131 1 900000000000207008 778063003 en 900000000000550004 A rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal or temporofrontal slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity. 900000000000017005 +3737595013 20190131 1 900000000000207008 778063003 en 900000000000550004 A rare epilepsy syndrome characterised by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behaviour problems are frequently present. EEG is characterised by a temporal or temporofrontal slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity. 900000000000017005 +3737603019 20190131 1 900000000000207008 778064009 en 900000000000550004 An extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (for example in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries). Typical characteristics are symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalaemia) or symptoms caused by local tumour enlargement. 900000000000017005 +3737604013 20190131 1 900000000000207008 778064009 en 900000000000550004 An extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (for example in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries). Typical characteristics are symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement. 900000000000017005 +3737608011 20190131 1 900000000000207008 778065005 en 900000000000550004 A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anaemia and thrombocytopenia. Caused by homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25. 900000000000017005 +3737609015 20190131 1 900000000000207008 778065005 en 900000000000550004 A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia. Caused by homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25. 900000000000017005 +3737616019 20190131 1 900000000000207008 778067002 en 900000000000550004 A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. 900000000000017005 +3737617011 20190131 1 900000000000207008 778067002 en 900000000000550004 A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalized, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. 900000000000017005 +3737622011 20190131 1 900000000000207008 778068007 en 900000000000550004 A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. 900000000000017005 +3737625013 20190131 1 900000000000207008 778069004 en 900000000000550004 A rare genetic developmental defect during embryogenesis disorder with characteristics of abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported. 900000000000017005 +3737634015 20190131 1 900000000000207008 778070003 en 900000000000550004 A rare genetic non-syndromic developmental defect during embryogenesis malformation syndrome with characteristics of congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated. 900000000000017005 +3737641014 20190131 1 900000000000207008 778073001 en 900000000000550004 A rare chromosomal anomaly with characteristics of prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. 900000000000017005 +3743469010 20190131 1 900000000000207008 780817000 en 900000000000550004 A hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages. 900000000000017005 +3743470011 20190131 1 900000000000207008 780817000 en 900000000000550004 A haematological neoplasm characterised by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anaemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages. 900000000000017005 +3743479012 20190131 1 900000000000207008 780820008 en 900000000000550004 A rare genetic mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes including Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome and Maternally inherited Leigh (MILS) syndrome. 900000000000017005 +3743487013 20190131 1 900000000000207008 780822000 en 900000000000550004 A mixed neuronal-glial tumour representing a histological spectrum of the same tumour. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterised by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumour, signs of raised intracranial pressure (headache, vomiting, papilloedema), focal neurological signs and sometimes seizures. 900000000000017005 +3743488015 20190131 1 900000000000207008 780822000 en 900000000000550004 A mixed neuronal-glial tumor representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures. 900000000000017005 +3743659014 20190131 1 900000000000207008 780827006 en 900000000000550004 A neurological disorder with characteristics of moderate to severe intellectual disability that is evident in early childhood. Early manifestations include delayed development of speech and motor skills, hypotonia, developmental regression, recurrent epilepsy, hyperactivity and autism spectrum disorder. Caused by mutations in the SYNGAP1 gene preventing the production of functional SynGAP protein from one copy of the gene which results in reduced protein activity in cells. May be inherited in an autosomal dominant manner or as a new mutation in the gene. 900000000000017005 +3743930012 20190131 1 900000000000207008 780841002 en 900000000000550004 A very rare aggressive form of systemic mastocytosis characterised by abnormal growth and proliferation of neoplastic mast cells (>20%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (for example hot flushes, fever, malaise, diarrhoea, tachycardia), weight loss, anorexia and hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by haemorrhage), ascites and portal hypertension have also been reported. 900000000000017005 +3743931011 20190131 1 900000000000207008 780841002 en 900000000000550004 A very rare aggressive form of systemic mastocytosis characterized by abnormal growth and proliferation of neoplastic mast cells (>20%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (for example hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia and hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported. 900000000000017005 +3743934015 20190131 1 900000000000207008 780842009 en 900000000000550004 A rare coronary artery congenital malformation with characteristics of anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death especially during exercise. 900000000000017005 +3743940010 20190131 1 900000000000207008 780844005 en 900000000000550004 A subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of myeloid blasts in the bone marrow, blood and rarely other tissues. Bone marrow typically shows small hypo-lobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anaemia, and variable platelet counts and a variety of nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. 900000000000017005 +3743941014 20190131 1 900000000000207008 780844005 en 900000000000550004 A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and rarely other tissues. Bone marrow typically shows small hypo-lobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, and variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. 900000000000017005 +3744633015 20190131 1 900000000000207008 55445003 en 900000000000550004 Larva of genus Taenia that develop in the intermediate hosts of the dog tapeworm species Taenia brauni, Taenia cerebralis, Taenia glomeratus, Taenia serialis. 900000000000017005 +3744955013 20190131 1 900000000000207008 238902007 en 900000000000550004 A rare subcutaneous tissue disease with characteristics of growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (for example reduced neck mobility, compression of respiratory structures). Some cases with autosomal dominant inheritance patterns or suspected mitochondrial inheritance have been described. 900000000000017005 +3744962016 20190131 1 900000000000207008 771533007 en 900000000000550004 Swelling, erythema, tenderness at the procedure insertion site or along needle track. 900000000000017005 +3745221011 20190131 1 900000000000207008 770602005 en 900000000000550004 A rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lympho vascular and perineural invasion, as well as high metastatic potential. Presents with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice. 900000000000017005 +3745222016 20190131 1 900000000000207008 770602005 en 900000000000550004 A rare epithelial tumour of the exocrine pancreas, histologically characterised by presence of keratinisation and/or intracellular bridges and lympho vascular and perineural invasion, as well as high metastatic potential. Presents with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice. 900000000000017005 +3745223014 20190131 1 900000000000207008 773662009 en 900000000000550004 A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterized by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. 900000000000017005 +3745224015 20190131 1 900000000000207008 773662009 en 900000000000550004 A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterised by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhoea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. 900000000000017005 +3746864018 20190131 1 900000000000207008 764871007 en 900000000000550004 A scheduled procedure that is not performed on the scheduled procedure day and the decision not to perform the procedure takes place after anaesthesia induction time but before procedure/surgery start time. 900000000000017005 +3746865017 20190131 1 900000000000207008 764871007 en 900000000000550004 A scheduled procedure that is not performed on the scheduled procedure day and the decision not to perform the procedure takes place after anesthesia induction time but before procedure/surgery start time. 900000000000017005 +3746866016 20190131 1 900000000000207008 764870008 en 900000000000550004 A scheduled procedure that is not performed on the scheduled procedure day and the decision not to perform the procedure takes place after anesthesia start time but before anesthesia induction time. 900000000000017005 +3746867013 20190131 1 900000000000207008 764870008 en 900000000000550004 A scheduled procedure that is not performed on the scheduled procedure day and the decision not to perform the procedure takes place after anaesthesia start time but before anaesthesia induction time. 900000000000017005 +3746868015 20190131 1 900000000000207008 764869007 en 900000000000550004 A scheduled procedure that is not performed on the scheduled procedure day and the decision not to perform the procedure takes place before anesthesia start time. 900000000000017005 +3746869011 20190131 1 900000000000207008 764869007 en 900000000000550004 A scheduled procedure that is not performed on the scheduled procedure day and the decision not to perform the procedure takes place before anaesthesia start time. 900000000000017005 +3751137010 20190131 1 900000000000207008 781641005 en 900000000000550004 The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from Neurofibromatosis type 1 and Neurofibromatosis type 2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. The disease develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves and the cranium. 900000000000017005 +3751138017 20190131 1 900000000000207008 781641005 en 900000000000550004 The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from Neurofibromatosis type 1 and Neurofibromatosis type 2 and is characterised by the development of multiple schwannomas (nerve sheath tumours), without involvement of the vestibular nerves. The disease develops in adulthood and is often associated with chronic pain. Dysaesthesia and paraesthesia may also be present. Common localisations include the spine, peripheral nerves and the cranium. 900000000000017005 +3751575015 20190131 1 900000000000207008 781405001 en 900000000000550004 The abstract representation of a quantified medicinal product as produced by the supplier. 900000000000017005 +3752837010 20190131 1 900000000000207008 416304004 en 900000000000550004 The application of osteopathic philosophy, structural diagnosis and use of osteopathic manipulative treatment (OMT) in the diagnosis and management of the patient. 900000000000017005 +3752866013 20190131 1 900000000000207008 16992002 en 900000000000550004 The therapeutic application of manually guided forces by an osteopathic physician (U.S. usage) to improve physiologic function and/or support homeostasis that has been altered by somatic dysfunction. 900000000000017005 +3752896015 20190131 1 900000000000207008 416166006 en 900000000000550004 A grouping of primary and secondary sites of somatic dysfunction describing a three-segment complex fundamental to dysfunction in a mobile system. Each adjacent segment, above and below the primary locus, demonstrates opposing asymmetries to that locus. 900000000000017005 +3753003014 20190131 1 900000000000207008 16992002 en 900000000000550004 The therapeutic application of manually guided forces by an osteopath (non-physician) to improve physiological function and homoeostasis that has been altered by somatic dysfunction. 900000000000017005 +3754497016 20190131 1 900000000000207008 59037007 en 900000000000550004 An adverse of effect of a drug that is not due to an immunologic or metabolic abnormality or to alterations in bioavailability or excretion. Joint AAAAI/ACAAI practice parameters-Drug intolerance 2010. 900000000000017005 +3754810012 20190131 1 900000000000207008 25744000 en 900000000000550004 A very rare disorder which is probably hereditary. It is not caused by a disorder of disaccharidease activity or by impairment of monosaccharide transport but rather by abnormal permeability of lactose through the gastric mucosa. 900000000000017005 +3754815019 20190131 1 900000000000207008 782197009 en 900000000000550004 A propensity to an adverse reaction which is not an allergy or nonallergic hypersensitivity FHIR Release 3 (STU). 900000000000017005 +3754816018 20190131 1 900000000000207008 235719002 en 900000000000550004 An adverse effect of a food that is not due to an immunologic abnormality but rather to metabolic, toxic, pharmacologic or unknown processes. Joint AAAAI/ACAAI practice parameters-Food intolerance 2014. 900000000000017005 +3754817010 20190131 1 900000000000207008 609328004 en 900000000000550004 A propensity to developing a pathological immune process generally directed towards a foreign antigen, which results in tissue injury. It is most often applied to type I hypersensitivity but other hypersensitivity types especially type IV (e.g. allergic contact dermatitis) may be involved. Revised nomenclature for allergy for global use:Report of the Nomenclature Review Committee of the World Allergy Organization, October 2003. 900000000000017005 +3754818017 20190131 1 900000000000207008 609433001 en 900000000000550004 A propensity to developing an adverse reaction upon exposure to an agent at a dose otherwise tolerated by normal individuals. Revised nomenclature for allergy for global use:Report of the Nomenclature Review Committee of the World Allergy Organization, October 2003. 900000000000017005 +3755082017 20190731 1 900000000000207008 782669004 en 900000000000550004 A rare chromosomal anomaly with characteristics of variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported. 900000000000017005 +3755090017 20190731 1 900000000000207008 782670003 en 900000000000550004 A rare pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype. Typical characteristics include childhood-onset of minimally progressive bilateral mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy. Caused by heterozygous mutation in the ATL1 gene on chromosome 14q22. 900000000000017005 +3755094014 20190731 1 900000000000207008 201160005 en 900000000000550004 A rare cutaneous paraneoplastic disease characterised by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhoea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary. 900000000000017005 +3755095010 20190731 1 900000000000207008 201160005 en 900000000000550004 A rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary. 900000000000017005 +3755098012 20190731 1 900000000000207008 782672006 en 900000000000550004 A rare malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumor commonly presents with chest pain, dyspnea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumor. 900000000000017005 +3755099016 20190731 1 900000000000207008 782672006 en 900000000000550004 A rare malignant germ cell tumour that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumour. Central nervous system tumour might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumour commonly presents with chest pain, dyspnoea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumour. 900000000000017005 +3755104015 20190731 1 900000000000207008 782673001 en 900000000000550004 A partial autosomal monosomy with characteristics of a variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin. 900000000000017005 +3755109013 20190731 1 900000000000207008 782674007 en 900000000000550004 A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis. 900000000000017005 +3755113018 20190731 1 900000000000207008 782675008 en 900000000000550004 A rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. There is evidence the disease is caused by homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. Patients become wheelchair dependent. 900000000000017005 +3755118010 20190731 1 900000000000207008 782676009 en 900000000000550004 A rare partial autosomal trisomy with characteristics of a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features. 900000000000017005 +3755128018 20190731 1 900000000000207008 782679002 en 900000000000550004 A rare genetic neuro-ophthalmological disease with characteristics of congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (for example hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported. 900000000000017005 +3755131017 20190731 1 900000000000207008 782680004 en 900000000000550004 A rare mixed neuronal-glial tumour characterised by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported. 900000000000017005 +3755132012 20190731 1 900000000000207008 782680004 en 900000000000550004 A rare mixed neuronal-glial tumor characterized by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported. 900000000000017005 +3755224011 20190731 1 900000000000207008 782689003 en 900000000000550004 A rare genetic non-syndromic limb malformation with characteristics of delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated. 900000000000017005 +3755232015 20190731 1 900000000000207008 782690007 en 900000000000550004 A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. 900000000000017005 +3755233013 20190731 1 900000000000207008 782690007 en 900000000000550004 A rare neurodegenerative disease characterised by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalised cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localised vitiligo have also been reported. There have been no further descriptions in the literature since 1989. 900000000000017005 +3755237014 20190731 1 900000000000207008 782691006 en 900000000000550004 Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. 900000000000017005 +3755241013 20190731 1 900000000000207008 782692004 en 900000000000550004 Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. 900000000000017005 +3755249010 20190731 1 900000000000207008 782694003 en 900000000000550004 A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. 900000000000017005 +3755253012 20190731 1 900000000000207008 782695002 en 900000000000550004 A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course. 900000000000017005 +3755255017 20190731 1 900000000000207008 782695002 en 900000000000550004 A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalised dystonia. Dysphonia and dysarthria also occur later in the disease course. 900000000000017005 +3755259011 20190731 1 900000000000207008 782696001 en 900000000000550004 A rare mitochondrial DNA maintenance syndrome with characteristics of early-onset cerebellar ataxia and a variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders. 900000000000017005 +3755263016 20190731 1 900000000000207008 782697005 en 900000000000550004 A rare carcinoma of the pancreas with characteristics of a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting and weight loss. One-third of the patients are asymptomatic. The neoplasm has low malignant potential but can invade locally. 900000000000017005 +3755284014 20190731 1 900000000000207008 228643004 en 900000000000550004 Habilitation training in healthcare is a process aimed at helping disabled people attain, keep or improve skills and functioning for daily living. 900000000000017005 +3755331013 20190731 1 900000000000207008 782705004 en 900000000000550004 A stent using a collagen derived noninflammatory gelatin material. 900000000000017005 +3755442015 20190731 1 900000000000207008 782737003 en 900000000000550004 A rare genetic central nervous system malformation syndrome with characteristics of congenital progressive microcephaly, neonatal to infancy-onset of severe intractable seizures and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. Caused by compound heterozygous mutation in the QARS gene on chromosome 3p21. 900000000000017005 +3755443013 20190731 1 900000000000207008 782738008 en 900000000000550004 A rare genetic renal disease with characteristics of slowly progressive chronic tubulointerstitial nephritis leading to end-stage renal disease before the age of 50 years. The disease manifests mild proteinuria, glucosuria and occasionally urinary sediment abnormalities. Mild extrarenal manifestations such as recurrent upper respiratory tract infections and abnormal liver function tests may be associated. Renal biopsy reveals severe chronic interstitial fibrosis and tubular changes as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged hyperchromatic nuclei. Caused by homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q. 900000000000017005 +3755444019 20190731 1 900000000000207008 782739000 en 900000000000550004 A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11. 900000000000017005 +3755445018 20190731 1 900000000000207008 782742006 en 900000000000550004 A rare subtype of axonal hereditary motor and sensory neuropathy with characteristics of distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/areflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy. There is evidence this disease is caused by heterozygous mutation in the DCAF8 gene on chromosome 1q23. 900000000000017005 +3755459013 20190731 1 900000000000207008 782718007 en 900000000000550004 A rare genetic persistent combined dystonia disorder characterized by slowly progressive severe caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (for example gingival or lingual hyperplasia) as well as delayed milestones and cognitive impairment. 900000000000017005 +3755460015 20190731 1 900000000000207008 782718007 en 900000000000550004 A rare genetic persistent combined dystonia disorder characterised by slowly progressive severe caudo-rostrally spreading generalised dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (for example gingival or lingual hyperplasia) as well as delayed milestones and cognitive impairment. 900000000000017005 +3755467017 20190731 1 900000000000207008 782719004 en 900000000000550004 A rare hereditary ataxia with characteristics of progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, and spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. Caused by homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. 900000000000017005 +3755473016 20190731 1 900000000000207008 782720005 en 900000000000550004 A rare genetic pontocerebellar hypoplasia subtype with characteristics of severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root and hypoplastic alae nasi) and an axonal sensorimotor neuropathy. Caused by homozygous mutation in the CLP1 gene on chromosome 11q12. 900000000000017005 +3755481015 20190731 1 900000000000207008 782721009 en 900000000000550004 An extremely rare autosomal recessive hereditary cerebellar ataxia disorder with characteristics of early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated. 900000000000017005 +3755491014 20190731 1 900000000000207008 782722002 en 900000000000550004 A rare genetic overgrowth syndrome characterised by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumour. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behaviour. 900000000000017005 +3755492019 20190731 1 900000000000207008 782722002 en 900000000000550004 A rare genetic overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior. 900000000000017005 +3755495017 20190731 1 900000000000207008 782723007 en 900000000000550004 A rare genetic syndromic intellectual disability disorder characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. 900000000000017005 +3755496016 20190731 1 900000000000207008 782723007 en 900000000000550004 A rare genetic syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. 900000000000017005 +3755499011 20190731 1 900000000000207008 782724001 en 900000000000550004 A rare genetic vascular disease with characteristics of congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease. There is evidence the disease is caused by heterozygous mutation in the ACTA2 gene on chromosome 10q23. 900000000000017005 +3755502010 20190731 1 900000000000207008 782725000 en 900000000000550004 Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. 900000000000017005 +3755505012 20190731 1 900000000000207008 782726004 en 900000000000550004 Autosomal recessive spastic paraplegia type 71 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal. 900000000000017005 +3755508014 20190731 1 900000000000207008 782727008 en 900000000000550004 Autosomal spastic paraplegia type 72 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and in some mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles. 900000000000017005 +3755542017 20190731 1 900000000000207008 782736007 en 900000000000550004 A rare syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25. 900000000000017005 +3755543010 20190731 1 900000000000207008 782736007 en 900000000000550004 A rare syndromic intellectual disability characterised by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioural issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25. 900000000000017005 +3755565010 20190731 1 900000000000207008 782743001 en 900000000000550004 A rare genetic neurodegenerative disease characterised by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioural problems. 900000000000017005 +3755566011 20190731 1 900000000000207008 782743001 en 900000000000550004 A rare genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems. 900000000000017005 +3755569016 20190731 1 900000000000207008 782744007 en 900000000000550004 A rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated. 900000000000017005 +3755570015 20190731 1 900000000000207008 782744007 en 900000000000550004 A rare neurometabolic disease characterised by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinaemia typically revealed by biochemical analysis. Respiratory problems (apnoea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated. 900000000000017005 +3755573018 20190731 1 900000000000207008 782745008 en 900000000000550004 A very rare inborn error of metabolism disorder with a highly variable phenotype. Typical characteristics are neonatal to infancy-onset of seizures, psychomotor delay and abnormal muscle tone that may include hypo and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties and pulmonary hypertension. There is evidence the disease is caused by compound heterozygous mutation in the LIPT1 gene on chromosome 2q11. 900000000000017005 +3755574012 20190731 1 900000000000207008 782745008 en 900000000000550004 A very rare inborn error of metabolism disorder with a highly variable phenotype. Typical characteristics are neonatal to infancy-onset of seizures, psychomotor delay and abnormal muscle tone that may include hypo and/or hypertonia, resulting in generalised weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties and pulmonary hypertension. There is evidence the disease is caused by compound heterozygous mutation in the LIPT1 gene on chromosome 2q11. 900000000000017005 +3755577017 20190731 1 900000000000207008 782746009 en 900000000000550004 Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability. 900000000000017005 +3755580016 20190731 1 900000000000207008 782747000 en 900000000000550004 Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging. 900000000000017005 +3755606017 20190731 1 900000000000207008 782750002 en 900000000000550004 A rare hereditary primary immunodeficiency characterised by recurrent respiratory tract infection, otitis media, candidiasis, diarrhoea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune haemolytic anaemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. There is evidence the disease is caused by homozygous mutation in the TRAC gene on chromosome 14q11. 900000000000017005 +3755607014 20190731 1 900000000000207008 782750002 en 900000000000550004 A rare hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. There is evidence the disease is caused by homozygous mutation in the TRAC gene on chromosome 14q11. 900000000000017005 +3755612010 20190731 1 900000000000207008 782751003 en 900000000000550004 A rare genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present. There is evidence the disease is caused by homozygous mutation in the IKBKB gene on chromosome 8p11. 900000000000017005 +3755613017 20190731 1 900000000000207008 782751003 en 900000000000550004 A rare genetic form of primary immunodeficiency characterised by life-threatening bacterial, fungal and viral infections with the onset in infancy and failure to thrive. Typically, hypogammaglobulinaemia or agammaglobulinaemia and normal levels of T and B cells are present. There is evidence the disease is caused by homozygous mutation in the IKBKB gene on chromosome 8p11. 900000000000017005 +3755617016 20190731 1 900000000000207008 782752005 en 900000000000550004 A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13. 900000000000017005 +3755622016 20190731 1 900000000000207008 782753000 en 900000000000550004 A rare genetic central nervous system malformation syndrome with characteristics of early-onset progressive severe cerebellar ataxia associated with progressive moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. There is evidence the disease is caused by homozygous mutation in the SNX14 gene on chromosome 6q14. 900000000000017005 +3755627010 20190731 1 900000000000207008 782754006 en 900000000000550004 A rare genetic eye disease with characteristics of foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and occasionally strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. There is the disease is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23. 900000000000017005 +3755630015 20190731 1 900000000000207008 782755007 en 900000000000550004 A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported. 900000000000017005 +3755634012 20190731 1 900000000000207008 782756008 en 900000000000550004 A rare genetic peripheral neuropathy disorder characterized by recurrent stereotyped episodic intense pain occurring predominantly in either the upper body or lower limbs in several members of a family. The pain is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations such as tachycardia, breathing difficulties and generalized pallor may be associated. 900000000000017005 +3755635013 20190731 1 900000000000207008 782756008 en 900000000000550004 A rare genetic peripheral neuropathy disorder characterised by recurrent stereotyped episodic intense pain occurring predominantly in either the upper body or lower limbs in several members of a family. The pain is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations such as tachycardia, breathing difficulties and generalised pallor may be associated. 900000000000017005 +3755639019 20190731 1 900000000000207008 782757004 en 900000000000550004 A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. 900000000000017005 +3755645010 20190731 1 900000000000207008 782759001 en 900000000000550004 A rare genetic constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11. 900000000000017005 +3755646011 20190731 1 900000000000207008 782759001 en 900000000000550004 A rare genetic constitutional dyserythropoietic anaemia disorder characterised by moderate to severe anaemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11. 900000000000017005 +3755656010 20190731 1 900000000000207008 417439009 en 900000000000550004 A low velocity/moderate to high amplitude activating force using pressure and motion applied repeatedly against the restrictive barrier of a dysfunctional structure. 900000000000017005 +3755657018 20190731 1 900000000000207008 417261002 en 900000000000550004 Rhythmic compression applied over the spleen for the purpose of enhancing the patient's immune response. 900000000000017005 +3755715015 20190731 1 900000000000207008 782772000 en 900000000000550004 A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. 900000000000017005 +3755719014 20190731 1 900000000000207008 782773005 en 900000000000550004 A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities. 900000000000017005 +3755724012 20190731 1 900000000000207008 782774004 en 900000000000550004 A rare benign ovarian tumor characterized by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumor. 900000000000017005 +3755725013 20190731 1 900000000000207008 782774004 en 900000000000550004 A rare benign ovarian tumour characterised by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumour. 900000000000017005 +3755738017 20190731 1 900000000000207008 782780007 en 900000000000550004 A very rare developmental defect with connective tissue involvement disorder that has characteristics of tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (such as hallux valgus, talipes equinovarus). 900000000000017005 +3755743012 20190731 1 900000000000207008 782781006 en 900000000000550004 A rare genetic primary bone dysplasia disorder with characteristics of increased bone fragility manifesting with multiple childhood-onset vertebral and peripheral fractures that are associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing and sclerae are commonly normal. 900000000000017005 +3755746016 20190731 1 900000000000207008 782782004 en 900000000000550004 A rare primary bone dysplasia with characteristics of intrauterine growth retardation, pre and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification. There is evidence this disease is caused by homozygous mutation in the MAGMAS (PAM16) gene on chromosome 16p13. 900000000000017005 +3755750011 20190731 1 900000000000207008 782783009 en 900000000000550004 A rare dysostosis syndrome with characteristics of vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations. The syndrome manifests with highly variable craniofacial features which include hypertelorism, eyelid coloboma, orbital dystopia, epibulbar dermoid, nasal anomalies (for example wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated. 900000000000017005 +3755756017 20190731 1 900000000000207008 782785002 en 900000000000550004 A rare genetic primary bone dysplasia with decreased bone density disorder with characteristics of childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. There is evidence the disease can be caused by mutation in the PLS3 gene on chromosome Xq23. 900000000000017005 +3755760019 20190731 1 900000000000207008 782786001 en 900000000000550004 A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of benign isolated calvarial thickening presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences and facial dysmorphism comprising a flat nasal root and short upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986. 900000000000017005 +3755769018 20190731 1 900000000000207008 782787005 en 900000000000550004 A graft of the epidermis and less than the entire thickness of the dermis of the skin. 900000000000017005 +3755786012 20190731 1 900000000000207008 256679004 en 900000000000550004 A split thickness skin graft processed through a skin mesher which makes apertures onto the graft, allowing it to expand to many times its size. 900000000000017005 +3755799010 20190731 1 900000000000207008 782792007 en 900000000000550004 A graft of the epidermis and the entire thickness of the dermis of the skin. 900000000000017005 +3755889013 20190731 1 900000000000207008 261237000 en 900000000000550004 A sheet of cells are grown in culture in a laboratory for use as a biosynthetic dermal graft. 900000000000017005 +3756026010 20190731 1 900000000000207008 782820003 en 900000000000550004 A rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly. 900000000000017005 +3756028011 20190731 1 900000000000207008 782820003 en 900000000000550004 A rare primary bone dysplasia disorder characterised by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalised metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly. 900000000000017005 +3756073016 20190731 1 900000000000207008 782821004 en 900000000000550004 A rare primary bone dysplasia disorder with characteristics of normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses and irregular distal femoral and proximal tibial metaphyses. 900000000000017005 +3756076012 20190731 1 900000000000207008 782822006 en 900000000000550004 A rare neurodegenerative disorder with characteristics of early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the aconitase-2 gene (ACO2) on chromosome 22q13. 900000000000017005 +3756079017 20190731 1 900000000000207008 782823001 en 900000000000550004 A rare inherited cancer-predisposing syndrome with characteristics of early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. There is evidence the disease is caused by heterozygous mutation in the ATR gene on chromosome 3q23. 900000000000017005 +3756087016 20190731 1 900000000000207008 782825008 en 900000000000550004 A rare genetic neurologic disease with characteristics of congenital microcephaly, severe early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent neonatal, insulin-dependent diabetes mellitus and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21. 900000000000017005 +3756091014 20190731 1 900000000000207008 782826009 en 900000000000550004 A rare genetic axonal hereditary motor and sensory neuropathy disorder with characteristics of adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. The disease can be caused by homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. 900000000000017005 +3756094018 20190731 1 900000000000207008 782827000 en 900000000000550004 A rare soft tissue tumour characterised by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body. 900000000000017005 +3756095017 20190731 1 900000000000207008 782827000 en 900000000000550004 A rare soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body. 900000000000017005 +3756100015 20190731 1 900000000000207008 782828005 en 900000000000550004 A rare genetic inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype. Typical characteristics are mild to severe global developmental delay, elevated methylmalonic acid and occasionally lactic acid plasma levels and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (for example beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure and central nervous system abnormalities on MRI have also been reported. Caused by homozygous or compound heterozygous mutation in the ALDH6A1 gene on chromosome 14q24. 900000000000017005 +3756105013 20190731 1 900000000000207008 782829002 en 900000000000550004 A rare genetic subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Caused by heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. 900000000000017005 +3756108010 20190731 1 900000000000207008 782830007 en 900000000000550004 A composite graft is a small graft containing skin and underlying cartilage or other tissue. 900000000000017005 +3756123017 20190731 1 900000000000207008 782766000 en 900000000000550004 A graft of small pieces or strips placed apart from each other on the wound or defect. 900000000000017005 +3756128014 20190731 1 900000000000207008 782769007 en 900000000000550004 A small, circular, skin graft obtained by pinching up a cone of skin with a needle or pulling up on a hair, and cutting it free. 900000000000017005 +3756136017 20190731 1 900000000000207008 256681002 en 900000000000550004 An allograft of skin is when the skin donor and the graft recipient are different subjects belonging to the same species 900000000000017005 +3756137014 20190731 1 900000000000207008 782798006 en 900000000000550004 An isograft of skin is when the skin donor and the graft recipient are two individuals who are genetically identical. 900000000000017005 +3756138016 20190731 1 900000000000207008 782811007 en 900000000000550004 A porcine xenograft of skin is when the skin donor is a pig and the graft recipient is a different species (human). 900000000000017005 +3756139012 20190731 1 900000000000207008 782801000 en 900000000000550004 A synthetic graft of skin is when the graft consists of synthetic materials, for example, silicone graft. 900000000000017005 +3756147012 20190731 1 900000000000207008 782791000 en 900000000000550004 A thick split thickness graft that consists of the epidermis and less than the entire thickness of the dermis. Split thickness graft of skin can be categorized further as thin, intermediate, or thick based on the thickness of the harvested graft. 900000000000017005 +3756148019 20190731 1 900000000000207008 782790004 en 900000000000550004 An intermediate split thickness graft that consists of the epidermis and less than the entire thickness of the dermis. Split thickness graft of skin can be categorized further as thin, intermediate, or thick based on the thickness of the harvested graft. 900000000000017005 +3756150010 20190731 1 900000000000207008 782789008 en 900000000000550004 A thin split thickness graft that consists of the epidermis and less than the entire thickness of the dermis. Split thickness graft of skin can be categorized further as thin, intermediate, or thick based on the thickness of the harvested graft. 900000000000017005 +3756164010 20190731 1 900000000000207008 782831006 en 900000000000550004 A skin graft obtained by using a skin biopsy punch. 900000000000017005 +3756206018 20190731 1 900000000000207008 764794000 en 900000000000550004 A method of administration of a liquid dose form by introducing it into the circulatory system or into a body cavity. 900000000000017005 +3756209013 20190731 1 900000000000207008 782155003 en 900000000000550004 A method of administration of a liquid dose form by flushing it through or flow over a body area. 900000000000017005 +3756210015 20190731 1 900000000000207008 764498003 en 900000000000550004 A method of administration of a dose form by using the tongue and muscles of the mouth to dissolve it. 900000000000017005 +3756220013 20190731 1 900000000000207008 764779004 en 900000000000550004 A dose form transformation that occurs when a solid or liquid dose form is mixed with a suitable liquid to create a suspension or when a solid dose form is mixed with a suitable liquid to create a solution. This may occur as part of the dispensing act or immediately before administration. 900000000000017005 +3756221012 20190731 1 900000000000207008 764775005 en 900000000000550004 A release characteristic where a dose form displays a rate and time of release of the active substance(s) in the dose form based on their intrinsic properties and also displays a delayed release of some of the active substance(s) within the same dose form. This may be achieved by a special formulation design, manufacturing process or other methods. 900000000000017005 +3756517018 20190731 1 900000000000207008 782877002 en 900000000000550004 A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence. 900000000000017005 +3756518011 20190731 1 900000000000207008 782877002 en 900000000000550004 A rare syndromic intellectual disability characterised by developmental delay and intellectual disability, learning and behavioural problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence. 900000000000017005 +3756523011 20190731 1 900000000000207008 782878007 en 900000000000550004 A rare isolated nail anomaly with characteristics of claw-shaped thick hyperplastic hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. There is evidence the disease can be caused by homozygous mutation in the FZD6 gene on chromosome 8q22.3-q23.1. 900000000000017005 +3756527012 20190731 1 900000000000207008 782879004 en 900000000000550004 A rare genetic cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay. There is evidence the disease is caused by homozygous or compound heterozygous mutations in the LAMC3 gene on chromosome 9q34. 900000000000017005 +3756528019 20190731 1 900000000000207008 782879004 en 900000000000550004 A rare genetic cerebral malformation characterised by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalised tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay. There is evidence the disease is caused by homozygous or compound heterozygous mutations in the LAMC3 gene on chromosome 9q34. 900000000000017005 +3756534014 20190731 1 900000000000207008 782880001 en 900000000000550004 A rare genetic haemoglobinopathy disorder due to a defect in the gama subunit of the fetal haemoglobin and characterised by neonatal cyanosis, low haemoglobin oxygen saturation levels without arterial hypoxaemia, moderate anaemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life. Can be caused by heterozygous mutation in the HBG2 gene on chromosome 11p15.5. 900000000000017005 +3756535010 20190731 1 900000000000207008 782880001 en 900000000000550004 A rare genetic hemoglobinopathy disorder due to a defect in the gama subunit of the fetal hemoglobin and characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life. Can be caused by heterozygous mutation in the HBG2 gene on chromosome 11p15.5. 900000000000017005 +3756538012 20190731 1 900000000000207008 782881002 en 900000000000550004 A rare genetic demyelinating hereditary motor and sensory neuropathy disorder with characteristics of slowly progressive mild to moderate distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (for example pectus excavatus, dolichocephaly) may also be associated. There is evidence the disease is caused by heterozygous mutation in the gene encoding fibulin-5 (FBLN5) on chromosome 14q32. 900000000000017005 +3756542010 20190731 1 900000000000207008 782882009 en 900000000000550004 A rare genetic primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12. 900000000000017005 +3756543017 20190731 1 900000000000207008 782882009 en 900000000000550004 A rare genetic primary bone dysplasia characterised by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centres and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12. 900000000000017005 +3756546013 20190731 1 900000000000207008 782883004 en 900000000000550004 A rare genetic skeletal muscle disease with characteristics of muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death. There is the disease is caused by homozygous mutation in the CRYAB gene on chromosome 11q23. 900000000000017005 +3756550018 20190731 1 900000000000207008 782884005 en 900000000000550004 A rare central nervous system malformation with characteristics of a specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been reported. 900000000000017005 +3756555011 20190731 1 900000000000207008 782886007 en 900000000000550004 A rare genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions. 900000000000017005 +3756556012 20190731 1 900000000000207008 782886007 en 900000000000550004 A rare genetic disorder of thiamine metabolism and transport characterised by infantile spasms progressing to symptomatic generalised or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions. 900000000000017005 +3756561014 20190731 1 900000000000207008 782887003 en 900000000000550004 A rare genetic neurological disease with characteristics of non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (for example perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present. 900000000000017005 +3756598010 20190731 1 900000000000207008 61685007 en 900000000000550004 Body structure that includes the hip, thigh, leg, ankle and foot. 900000000000017005 +3756600016 20190731 1 900000000000207008 11530004 en 900000000000550004 Frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. 900000000000017005 +3756601017 20190731 1 900000000000207008 39379000 en 900000000000550004 Forcible sexual assault is sexual assault that involves force, threat of force, or injury. 900000000000017005 +3756602012 20190731 1 900000000000207008 782869001 en 900000000000550004 Sexual assault is described as incapacitated when the victim is unable to give consent due to incapacitation. 900000000000017005 +3756622011 20190731 1 900000000000207008 129336009 en 900000000000550004 To fix firmly or set securely or deeply in the body. 900000000000017005 +3756623018 20190731 1 900000000000207008 129325002 en 900000000000550004 To put or insert something into the body. 900000000000017005 +3756624012 20190731 1 900000000000207008 257867005 en 900000000000550004 To put in between or into a part(s) of the body. 900000000000017005 +3756625013 20190731 1 900000000000207008 107733003 en 900000000000550004 The act of putting or inserting an object AND/OR substance into or onto the body. 900000000000017005 +3756627017 20190731 1 900000000000207008 782902008 en 900000000000550004 The act of fixing something firmly or setting something securely or deeply into the body. 900000000000017005 +3756652015 20190731 1 900000000000207008 782909004 en 900000000000550004 A rare genetic constitutional coagulation factor defect disorder characterized by a bleeding tendency of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and in female patients ovarian hematomas after ovulation. 900000000000017005 +3756653013 20190731 1 900000000000207008 782909004 en 900000000000550004 A rare genetic constitutional coagulation factor defect disorder characterised by a bleeding tendency of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous haematomas, haematomas following minor trauma or surgery and in female patients ovarian haematomas after ovulation. 900000000000017005 +3756657014 20190731 1 900000000000207008 782910009 en 900000000000550004 A rare genetic epidermal disorder with characteristics of a chronic diffuse fine scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows) around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms. There is evidence the disease is caused by mutation in the ZNF750 gene. 900000000000017005 +3756664011 20190731 1 900000000000207008 782911008 en 900000000000550004 A rare hemolytic anemia characterized by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34. 900000000000017005 +3756665012 20190731 1 900000000000207008 782911008 en 900000000000550004 A rare haemolytic anaemia characterised by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and haemolytic anaemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalaemia, haemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34. 900000000000017005 +3756668014 20190731 1 900000000000207008 782912001 en 900000000000550004 A rare primary bone dysplasia disorder with characteristics of disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity. 900000000000017005 +3756671018 20190731 1 900000000000207008 782913006 en 900000000000550004 A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. 900000000000017005 +3756674014 20190731 1 900000000000207008 782914000 en 900000000000550004 A rare genetic congenital limb malformation syndrome with characteristics of mild to severe short stature, brachydactyly and retinal degeneration (usually retinitis pigmentosa) associated with variable intellectual disability, developmental delay and craniofacial anomalies. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the CWC27 gene on chromosome 5q12. 900000000000017005 +3756677019 20190731 1 900000000000207008 782915004 en 900000000000550004 A rare secondary haemophagocytic lymphohistiocytosis characterised by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are leukaemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings. 900000000000017005 +3756678012 20190731 1 900000000000207008 782915004 en 900000000000550004 A rare secondary hemophagocytic lymphohistiocytosis characterized by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are leukemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings. 900000000000017005 +3756682014 20190731 1 900000000000207008 782916003 en 900000000000550004 A rare genetic ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (such as generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (for example proportionate short stature, platyspondyly) and intestinal (for example congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992. 900000000000017005 +3756683016 20190731 1 900000000000207008 782916003 en 900000000000550004 A rare genetic ectodermal dysplasia syndrome characterised by skin, hair and nail anomalies (such as generalised ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (for example proportionate short stature, platyspondyly) and intestinal (for example congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992. 900000000000017005 +3756688013 20190731 1 900000000000207008 782917007 en 900000000000550004 A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. 900000000000017005 +3756689017 20190731 1 900000000000207008 782917007 en 900000000000550004 A rare endocrine disease characterised by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organisation), selective absence of pituitary luteinising hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycaemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. 900000000000017005 +3756693011 20190731 1 900000000000207008 782918002 en 900000000000550004 A rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently individuals are completely without clinical phenotype. There is evidence the disease is caused by compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. 900000000000017005 +3756694017 20190731 1 900000000000207008 782918002 en 900000000000550004 A rare disorder of lysine and hydroxylysine metabolism characterised by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioural disorders, most commonly attention deficit hyperactivity disorder. Frequently individuals are completely without clinical phenotype. There is evidence the disease is caused by compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. 900000000000017005 +3756848017 20190731 1 900000000000207008 782934004 en 900000000000550004 A rare genetic coagulation disorder with characteristics of mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and occasionally mild thrombocytopenia. 900000000000017005 +3756852017 20190731 1 900000000000207008 782935003 en 900000000000550004 A rare hyperkinetic movement disorder with characteristics of mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs such as gait ataxia and adiadochokinesia may be associated. There have been no further descriptions in the literature since 1976. 900000000000017005 +3756858018 20190731 1 900000000000207008 782937006 en 900000000000550004 A rare genetic congenital limb malformation with characteristics of bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the mid phalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980. 900000000000017005 +3756870019 20190731 1 900000000000207008 782940006 en 900000000000550004 A rare multiple congenital defects/dysmorphic syndrome with characteristics of variable degrees of bony syngnathia associated with variable additional abnormalities including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness and vertebral segmentation defects. Also associated with genital, limb and additional facial malformations. 900000000000017005 +3756875012 20190731 1 900000000000207008 782941005 en 900000000000550004 A rare genetic myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984. 900000000000017005 +3756876013 20190731 1 900000000000207008 782941005 en 900000000000550004 A rare genetic myotonic syndrome characterised by childhood onset of progressive and severe myotonia (with generalised muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984. 900000000000017005 +3756878014 20190731 1 900000000000207008 782942003 en 900000000000550004 A rare syndromic developmental defect during embryogenesis with characteristics of urinary tract and kidney anomalies such as renal pelvicaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981. 900000000000017005 +3756890011 20190731 1 900000000000207008 782945001 en 900000000000550004 A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. 900000000000017005 +3756893013 20190731 1 900000000000207008 782946000 en 900000000000550004 A rare syndromic hyperpigmentation of the skin with characteristics of multiple lentigines and cafe-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982. 900000000000017005 +3756904011 20190731 1 900000000000207008 782949007 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and cafe-au-lait spots, as well as mild soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984. 900000000000017005 +3756911010 20190731 1 900000000000207008 782951006 en 900000000000550004 An extremely rare primary bone dysplasia syndrome with characteristics of short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus and developmental delay. There have been no further descriptions in the literature since 1987. 900000000000017005 +3757101012 20190731 1 900000000000207008 783003009 en 900000000000550004 An extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988. 900000000000017005 +3757102017 20190731 1 900000000000207008 783003009 en 900000000000550004 An extremely rare primary bone dysplasia disorder characterised by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalise with age. There have been no further descriptions in the literature since 1988. 900000000000017005 +3757103010 20190731 1 900000000000207008 783004003 en 900000000000550004 An extremely rare lethal primary bone dysplasia with characteristics of thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990. 900000000000017005 +3757109014 20190731 1 900000000000207008 783005002 en 900000000000550004 An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. 900000000000017005 +3757114013 20190731 1 900000000000207008 783006001 en 900000000000550004 An extremely rare uterine cancer typically characterized by a well-demarcated solid frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop. 900000000000017005 +3757115014 20190731 1 900000000000207008 783006001 en 900000000000550004 An extremely rare uterine cancer typically characterised by a well-demarcated solid frequently pedunculated tumour originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumour sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhoea, bronchospasm) may also develop. 900000000000017005 +3757118011 20190731 1 900000000000207008 783007005 en 900000000000550004 A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicaemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13. 900000000000017005 +3757119015 20190731 1 900000000000207008 783007005 en 900000000000550004 A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13. 900000000000017005 +3757122018 20190731 1 900000000000207008 783008000 en 900000000000550004 A rare acquired pituitary hormone deficiency characterized by the presence of rare benign tumor in the sellar region. Clinical presentation is either acute or insidious and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances and pituitary dysfunction. 900000000000017005 +3757123011 20190731 1 900000000000207008 783008000 en 900000000000550004 A rare acquired pituitary hormone deficiency characterised by the presence of rare benign tumour in the sellar region. Clinical presentation is either acute or insidious and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances and pituitary dysfunction. 900000000000017005 +3757127012 20190731 1 900000000000207008 783009008 en 900000000000550004 A rare acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea. 900000000000017005 +3757128019 20190731 1 900000000000207008 783009008 en 900000000000550004 A rare acquired pituitary hormone deficiency characterised by combination of headache, visual field defects that correlate with cyst size and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhoea/impotence or low libido and galactorrhoea. 900000000000017005 +3757133015 20190731 1 900000000000207008 783010003 en 900000000000550004 A rare acquired peripheral neuropathy disease with characteristics of progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated. 900000000000017005 +3757136011 20190731 1 900000000000207008 783011004 en 900000000000550004 A rare congenital anomaly of the inferior vena cava with characteristics of the postnatal presence of a eustachian valve remnant that may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, and infective endocarditis and when combined with persistent foramen ovale it may generate permanent right-to-left shunt. 900000000000017005 +3757142010 20190731 1 900000000000207008 783012006 en 900000000000550004 A rare genetic neurological disorder with characteristics of the association of both parkinsonian (such as bradykinesia, rigidity and/or rest tremor) and pyramidal (such as increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (for example neurodegenerative disease, inborn errors of metabolism). 900000000000017005 +3757146013 20190731 1 900000000000207008 783013001 en 900000000000550004 A rare genetic skin disorder with characteristics of very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974. 900000000000017005 +3757150018 20190731 1 900000000000207008 783014007 en 900000000000550004 A rare acquired localized lipodystrophy disorder characterized by the eruption of tender occasionally painful, erythematous nodules and plaques, which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically lesions are characterized by lipophagic lobular panniculitis and absence of vasculitis. 900000000000017005 +3757151019 20190731 1 900000000000207008 783014007 en 900000000000550004 A rare acquired localised lipodystrophy disorder characterised by the eruption of tender occasionally painful, erythematous nodules and plaques, which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically lesions are characterised by lipophagic lobular panniculitis and absence of vasculitis. 900000000000017005 +3757155011 20190731 1 900000000000207008 783016009 en 900000000000550004 A rare acquired pituitary hormone deficiency a type of primary hypophysitis with characteristics of inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue. 900000000000017005 +3757258016 20190731 1 900000000000207008 783055005 en 900000000000550004 A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. 900000000000017005 +3757259012 20190731 1 900000000000207008 783055005 en 900000000000550004 A rare genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. 900000000000017005 +3757263017 20190731 1 900000000000207008 783056006 en 900000000000550004 A rare urogenital neoplasm with characteristics of a gland-forming epithelial neoplasm arising from paratesticular structures, typically manifesting with a palpable scrotal mass, with or without hydrocele, and/or testicular pain. 900000000000017005 +3757269018 20190731 1 900000000000207008 783057002 en 900000000000550004 A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and variably joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy. Caused by heterozygous mutation in the DNA2 gene on chromosome 10q. 900000000000017005 +3757277019 20190731 1 900000000000207008 783058007 en 900000000000550004 A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to recurrent life-threatening bacterial infections in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (for example atrial septal defects, patent ductus arteriosus, valvular defects), urogenital anomalies (including cryptorchidism), growth and developmental delay, facial dysmorphism (for example frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated. 900000000000017005 +3757282014 20190731 1 900000000000207008 783059004 en 900000000000550004 A rare genetic dentin dysplasia disease with characteristics of extreme microdontia, oligodontia and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp) enamel hypoplasia and anterior open bite may also be associated. Caused by homozygous mutation in the SMOC2 gene on chromosome 6q27. 900000000000017005 +3757286012 20190731 1 900000000000207008 783060009 en 900000000000550004 A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32. 900000000000017005 +3757293011 20190731 1 900000000000207008 783061008 en 900000000000550004 A rare genetic syndromic intellectual disability characterised by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behaviour (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common. 900000000000017005 +3757294017 20190731 1 900000000000207008 783061008 en 900000000000550004 A rare genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common. 900000000000017005 +3757308014 20190731 1 900000000000207008 783062001 en 900000000000550004 A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalised tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels and relative preservation of cognitive function until late in the disease course. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21. 900000000000017005 +3757309018 20190731 1 900000000000207008 783062001 en 900000000000550004 A rare genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels and relative preservation of cognitive function until late in the disease course. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21. 900000000000017005 +3757315018 20190731 1 900000000000207008 783064000 en 900000000000550004 A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalised tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11. 900000000000017005 +3757316017 20190731 1 900000000000207008 783064000 en 900000000000550004 A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11. 900000000000017005 +3757321019 20190731 1 900000000000207008 783065004 en 900000000000550004 A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1. 900000000000017005 +3757540014 20190731 1 900000000000207008 783089006 en 900000000000550004 A rare genetic neurological disease with the association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose and long philtrum. 900000000000017005 +3757545016 20190731 1 900000000000207008 783090002 en 900000000000550004 A rare retinal vasculopathy disease characterised by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion retinal neovascularisation and macular exudation, leading to severe bilateral vision loss. 900000000000017005 +3757546015 20190731 1 900000000000207008 783090002 en 900000000000550004 A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion retinal neovascularization and macular exudation, leading to severe bilateral vision loss. 900000000000017005 +3757549010 20190731 1 900000000000207008 783091003 en 900000000000550004 A rare genetic developmental defect during embryogenesis disorder with characteristics of partial (unilateral testis, persistence of Mullerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating mini fascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. May be caused by mutation in the desert hedgehog gene (DHH). 900000000000017005 +3757550010 20190731 1 900000000000207008 783091003 en 900000000000550004 A rare genetic developmental defect during embryogenesis disorder with characteristics of partial (unilateral testis, persistence of Mullerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhoea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating mini fascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumours (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. May be caused by mutation in the desert hedgehog gene (DHH). 900000000000017005 +3757555017 20190731 1 900000000000207008 783092005 en 900000000000550004 A rare genetic developmental defect during embryogenesis disorder with characteristics of severe early-onset salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens and sodium with elevated potassium levels. Caused by heterozygous, compound heterozygous or homozygous mutation in the CYP11A1 gene on chromosome 15q23-q24. 900000000000017005 +3757561019 20190731 1 900000000000207008 783094006 en 900000000000550004 A rare complex hereditary spastic paraplegia with characteristics of adulthood onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated. 900000000000017005 +3757564010 20190731 1 900000000000207008 783095007 en 900000000000550004 A rare non-syndromic uterovaginal malformation with characteristics of variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems. 900000000000017005 +3757565011 20190731 1 900000000000207008 783095007 en 900000000000550004 A rare non-syndromic uterovaginal malformation with characteristics of variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhoea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems. 900000000000017005 +3757571017 20190731 1 900000000000207008 783096008 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and occasionally epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984. 900000000000017005 +3757575014 20190731 1 900000000000207008 783097004 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. There is evidence the disease is caused by heterozygous mutation in the COL11A2 gene on chromosome 6p21. 900000000000017005 +3757579015 20190731 1 900000000000207008 783098009 en 900000000000550004 A rare genetic endocrine disease with characteristics of idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. There is evidence the disease is caused by heterozygous mutation in the growth hormone receptor gene (GHR) on chromosome 5p13-p12. 900000000000017005 +3757585010 20190731 1 900000000000207008 783099001 en 900000000000550004 A rare genetic primary immunodeficiency disorder with characteristics of increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D) and learning difficulties (LE). There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29. 900000000000017005 +3757793012 20190731 1 900000000000207008 783136007 en 900000000000550004 A rare genetic isolated focal palmoplantar keratoderma disease with characteristics of focal thickening of the skin of the soles and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and occasionally subtle oral leukokeratosis or plantar hyperhidrosis. Caused by heterozygous mutation in the KRT6C gene on chromosome 12q13. 900000000000017005 +3757794018 20190731 1 900000000000207008 783137003 en 900000000000550004 A rare genetic dysostosis syndrome with combined reduction defects of upper and lower limbs and characteristics of bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996. 900000000000017005 +3757799011 20190731 1 900000000000207008 783138008 en 900000000000550004 A rare neoplastic disease characterised by the presence of a benign or malignant, pelvic or abdominal tumour (other than ovarian fibroma or fibroma-like and localised outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumour resection. Patients usually present with dyspnoea, pelvic mass with or without a tender, distended abdomen and/or weight loss. 900000000000017005 +3757800010 20190731 1 900000000000207008 783138008 en 900000000000550004 A rare neoplastic disease characterized by the presence of a benign or malignant, pelvic or abdominal tumor (other than ovarian fibroma or fibroma-like and localized outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss. 900000000000017005 +3757808015 20190731 1 900000000000207008 783139000 en 900000000000550004 A rare genetic neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12. 900000000000017005 +3757809011 20190731 1 900000000000207008 783139000 en 900000000000550004 A rare genetic neurological disorder characterised by childhood to adolescent-onset of action myoclonus, generalised tonic-clonic seizures and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12. 900000000000017005 +3757813016 20190731 1 900000000000207008 783140003 en 900000000000550004 A rare genetic dysostosis syndrome with characteristics of intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow small pelvis, lumbar hyperlordosis with scoliosis and foot deformity (short overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs and normal skull and upper limbs. 900000000000017005 +3757820011 20190731 1 900000000000207008 783142006 en 900000000000550004 A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12. 900000000000017005 +3757825018 20190731 1 900000000000207008 783143001 en 900000000000550004 A rare genetic polymalformative syndrome with increased risk of developing cancer, with characteristics of a Noonan-like phenotype, including typical dysmorphic facial features (such as high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent occurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity and hypotonia may also be associated. Caused by heterozygous mutation in the CBL gene. 900000000000017005 +3757826017 20190731 1 900000000000207008 783143001 en 900000000000550004 A rare genetic polymalformative syndrome with increased risk of developing cancer, with characteristics of a Noonan-like phenotype, including typical dysmorphic facial features (such as high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent occurrence of juvenile myelomonocytic leukaemia. Developmental delay, ectodermal anomalies, joint laxity and hypotonia may also be associated. Caused by heterozygous mutation in the CBL gene. 900000000000017005 +3757839018 20190731 1 900000000000207008 783146009 en 900000000000550004 A rare autoinflammatory syndrome with characteristics of episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold. There is evidence the disease is caused by heterozygous mutation in the NLRP12 gene on chromosome 19q13. 900000000000017005 +3757842012 20190731 1 900000000000207008 783148005 en 900000000000550004 A rare slowly progressive autosomal recessive distal myopathy with characteristics of early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods. The disease manifests initially in early childhood or young adulthood by foot drop but the first symptoms can be seen as early as one year of age. Caused by biallelic mutations (with at least one of them being missense mutation) in the gene NEB (2q22) which encodes the protein nebulin. The latter is expressed in the thin filaments of striated muscle and is required for the proper assembly of the thin filaments, for the maintenance of their lengths and for their contractile function. Transmission is autosomal recessive. 900000000000017005 +3757847018 20190731 1 900000000000207008 783149002 en 900000000000550004 A rare chromosomal anomaly with characteristics of a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various neoplasms. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected. 900000000000017005 +3757862016 20190731 1 900000000000207008 783155007 en 900000000000550004 A rare neoplastic disease with the presence of a neoplasm located in the parotid, sublingual, submandibular and/or minor salivary glands. The disease presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy. 900000000000017005 +3757871013 20190731 1 900000000000207008 783156008 en 900000000000550004 A rare genetic congenital limb malformation syndrome with characteristics of unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligo-syndactyly involving the lateral rays. Upper limb oligo-syndactyly and cleft lip/palate may also be associated. 900000000000017005 +3757877012 20190731 1 900000000000207008 783157004 en 900000000000550004 A rare genetic neurometabolic disease with characteristics of encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome. 900000000000017005 +3757878019 20190731 1 900000000000207008 783158009 en 900000000000550004 A rare acquired pituitary hormone deficiency, a type of primary hypophysitis characterised by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinaemia and hypogonadism. 900000000000017005 +3757880013 20190731 1 900000000000207008 783158009 en 900000000000550004 A rare acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism. 900000000000017005 +3757886019 20190731 1 900000000000207008 783159001 en 900000000000550004 An extremely rare lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. 900000000000017005 +3757894014 20190731 1 900000000000207008 783160006 en 900000000000550004 A rare systemic amyloidosis with characteristics of a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility and less commonly peripheral neuropathy and renal failure. Caused by mutation in the gelsolin gene (GSN). 900000000000017005 +3757898012 20190731 1 900000000000207008 783161005 en 900000000000550004 A rare neurodegenerative disease with characteristics of progressive cognitive impairment, spastic tetraparesis and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation. Caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. 900000000000017005 +3757914014 20190731 1 900000000000207008 783164002 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 20 with a highly variable phenotype. Typical characteristics are global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioural anomalies (for example autism spectrum disorder behaviours) and hand and feet skeletal malformations. Craniofacial dysmorphism, including microcephaly, high forehead, hypertelorism, broad nasal bridge, bulbous nasal tip, malformed ears, long philtrum, thin upper lip and microretrognathia may be occasionally associated. 900000000000017005 +3757915010 20190731 1 900000000000207008 783164002 en 900000000000550004 A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 20 with a highly variable phenotype. Typical characteristics are global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioral anomalies (for example autism spectrum disorder behaviors) and hand and feet skeletal malformations. Craniofacial dysmorphism, including microcephaly, high forehead, hypertelorism, broad nasal bridge, bulbous nasal tip, malformed ears, long philtrum, thin upper lip and microretrognathia may be occasionally associated. 900000000000017005 +3757918012 20190731 1 900000000000207008 783165001 en 900000000000550004 An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies. 900000000000017005 +3757924018 20190731 1 900000000000207008 783166000 en 900000000000550004 A rare autosomal recessive distal myopathy with characteristics of early adult-onset slowly progressive often asymmetrical lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels. Age at onset ranges from 20 to 50 years. Clinical manifestations can be mild or subjectively nonexistent in spite of presenting clear changes on muscle imaging. Caused by loss of function mutations in the gene ANO5 (11p14.3) which encodes a protein highly expressed in skeletal and cardiac muscle, as well as bone. 900000000000017005 +3757956013 20190731 1 900000000000207008 783174004 en 900000000000550004 A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder. The disease has characteristics of a wide phenotypic spectrum including hypotonia and muscular weakness, which is present at birth or early infancy and delayed or arrested motor development associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency and ocular anomalies (for example strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. 900000000000017005 +3757959018 20190731 1 900000000000207008 783175003 en 900000000000550004 A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder with characteristics of a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. 900000000000017005 +3757961010 20190731 1 900000000000207008 783176002 en 900000000000550004 A rare congenital muscular dystrophy due to dystroglycanopathy with characteristics of proximal muscular weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts and other structural brain anomalies. 900000000000017005 +3757965018 20190731 1 900000000000207008 783177006 en 900000000000550004 A rare congenital hypothyroidism disorder with characteristics of transient primary fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goitre, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalise without treatment within 3 weeks of birth. 900000000000017005 +3757966017 20190731 1 900000000000207008 783177006 en 900000000000550004 A rare congenital hypothyroidism disorder with characteristics of transient primary fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth. 900000000000017005 +3757972017 20190731 1 900000000000207008 783178001 en 900000000000550004 A rare mitochondrial oxidative phosphorylation disorder with characteristics of variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I). Caused by homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21. 900000000000017005 +3757977011 20190731 1 900000000000207008 783179009 en 900000000000550004 A rare genetic isolated dystonia with characteristics of a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported. Caused by heterozygous mutation in the ANO3 gene on chromosome 11p14. 900000000000017005 +3757980012 20190731 1 900000000000207008 783180007 en 900000000000550004 A rare acquired peripheral neuropathy with characteristics of symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion. The symptoms may be unilateral or bilateral, may occur synchronously or metachronously and include trigeminal neuralgia, hemifacial spasm and glossopharyngeal neuralgia. 900000000000017005 +3757983014 20190731 1 900000000000207008 783181006 en 900000000000550004 A rare syndromic craniosynostosis with characteristics of prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. 900000000000017005 +3757987010 20190731 1 900000000000207008 783182004 en 900000000000550004 A rare genetic primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse. There is evidence that the disease is caused by heterozygous mutation in the gene encoding surfactant protein C (SFTPC) on chromosome 8p21. 900000000000017005 +3757988017 20190731 1 900000000000207008 783182004 en 900000000000550004 A rare genetic primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnoea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse. There is evidence that the disease is caused by heterozygous mutation in the gene encoding surfactant protein C (SFTPC) on chromosome 8p21. 900000000000017005 +3757994013 20190731 1 900000000000207008 783183009 en 900000000000550004 A rare gastroesophageal tumor characterized by a typically submucosal tumor occurring usually in the middle to distal esophagus and histologically characterized as either mucoepidermoid (intimate mixture of mucus, intermediate and epidermoid cells) or as adenoid cystic carcinoma (biphasic admixture of duct lining epithelial and myoepithelial cells with tubular, cribriform, solid or basaloid growth patterns). Patients may be asymptomatic or may present with progressive dysphagia, heartburn, and retrosternal pain and/or weight loss. 900000000000017005 +3757995014 20190731 1 900000000000207008 783183009 en 900000000000550004 A rare gastrooesophageal tumour characterised by a typically submucosal tumour occurring usually in the middle to distal oesophagus and histologically characterised as either mucoepidermoid (intimate mixture of mucus, intermediate and epidermoid cells) or as adenoid cystic carcinoma (biphasic admixture of duct lining epithelial and myoepithelial cells with tubular, cribriform, solid or basaloid growth patterns). Patients may be asymptomatic or may present with progressive dysphagia, heartburn, and retrosternal pain and/or weight loss. 900000000000017005 +3758029011 20190731 1 900000000000207008 783194008 en 900000000000550004 A rare genetic isolated constitutional thrombocytopenia disease with characteristics of impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (for example easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction). Conferred by heterozygous mutation in the gene encoding the thromboxane A2 receptor (TBXA2R) on chromosome 19p13. 900000000000017005 +3758046014 20190731 1 900000000000207008 783195009 en 900000000000550004 A rare neoplastic disease characterised by the presence of a tumour located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction. 900000000000017005 +3758047017 20190731 1 900000000000207008 783195009 en 900000000000550004 A rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction. 900000000000017005 +3758055012 20190731 1 900000000000207008 783198006 en 900000000000550004 A rare genetic peripheral neuropathy with characteristics of early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32. 900000000000017005 +3758056013 20190731 1 900000000000207008 783198006 en 900000000000550004 A rare genetic peripheral neuropathy with characteristics of early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastrooesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32. 900000000000017005 +3758062015 20190731 1 900000000000207008 783199003 en 900000000000550004 A rare genetic primary immunodeficiency disorder with characteristics of early-onset recurrent severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (such as triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities may also be associated. 900000000000017005 +3758069012 20190731 1 900000000000207008 783200000 en 900000000000550004 A rare genetic primary immunodeficiency disorder with characteristics of recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2. 900000000000017005 +3758074016 20190731 1 900000000000207008 783201001 en 900000000000550004 A rare genetic primary immunodeficiency disorder with characteristics of predisposition to recurrent life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated. 900000000000017005 +3758079014 20190731 1 900000000000207008 783202008 en 900000000000550004 A rare genetic hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance. 900000000000017005 +3758080012 20190731 1 900000000000207008 783202008 en 900000000000550004 A rare genetic haematologic disease characterised by increased levels of serum haemoglobin, haematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance. 900000000000017005 +3758083014 20190731 1 900000000000207008 783203003 en 900000000000550004 A rare hereditary ataxia with characteristics of simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963. 900000000000017005 +3758086018 20190731 1 900000000000207008 783204009 en 900000000000550004 A rare syndromic developmental defect of the eye malformation with characteristics of unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal. 900000000000017005 +3758087010 20190731 1 900000000000207008 783205005 en 900000000000550004 A rare primary immunodeficiency disorder characterised by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinaemia or incomplete antibody deficiency syndrome) manifesting with recurrent infections. There have been no further descriptions in the literature since 1976. 900000000000017005 +3758091017 20190731 1 900000000000207008 783205005 en 900000000000550004 A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome) manifesting with recurrent infections. There have been no further descriptions in the literature since 1976. 900000000000017005 +3758234018 20190731 1 900000000000207008 783242003 en 900000000000550004 A rare genetic isolated dystonia with characteristics of adult-onset non-progressive focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor. 900000000000017005 +3758238015 20190731 1 900000000000207008 783243008 en 900000000000550004 A rare acquired pituitary hormone deficiency a type of primary hypophysitis with characteristics of inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, and symptoms of adrenal insufficiency, hyperprolactinaemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period. 900000000000017005 +3758239011 20190731 1 900000000000207008 783243008 en 900000000000550004 A rare acquired pituitary hormone deficiency a type of primary hypophysitis with characteristics of inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, and symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period. 900000000000017005 +3758240013 20190731 1 900000000000207008 783244002 en 900000000000550004 A acquired demyelinating neuropathy disease with characteristics of acute symmetric monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia and unsteady gait as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense. 900000000000017005 +3758241012 20190731 1 900000000000207008 783244002 en 900000000000550004 A acquired demyelinating neuropathy disease with characteristics of acute symmetric monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalised areflexia and unsteady gait as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense. 900000000000017005 +3758248018 20190731 1 900000000000207008 783245001 en 900000000000550004 A rare primary immunodeficiency due to a defect in innate immunity disorder with characteristics of selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis. 900000000000017005 +3758249014 20190731 1 900000000000207008 783189008 en 900000000000550004 Deviation of the pelvis to the right or left of the central vertical axis as translation occurs along the horizontal (z) axis. 900000000000017005 +3758253011 20190731 1 900000000000207008 783246000 en 900000000000550004 A rare genetic non-syndromic developmental defect of the eye disorder with characteristics of congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. Can be caused by homozygous mutation in the LTBP2 gene on chromosome 14q24. 900000000000017005 +3758254017 20190731 1 900000000000207008 783246000 en 900000000000550004 A rare genetic non-syndromic developmental defect of the eye disorder with characteristics of congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal oedema and central scarring, as well as a high arched palate. Can be caused by homozygous mutation in the LTBP2 gene on chromosome 14q24. 900000000000017005 +3758257012 20190731 1 900000000000207008 783172000 en 900000000000550004 Movement of the entire pelvis in a relatively horizontal plane about a vertical (longitudinal) axis. 900000000000017005 +3758262013 20190731 1 900000000000207008 783248004 en 900000000000550004 A rare genetic non-severe combined immunodeficiency disorder with characteristics of normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation. 900000000000017005 +3758263015 20190731 1 900000000000207008 783248004 en 900000000000550004 A rare genetic non-severe combined immunodeficiency disorder with characteristics of normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Haematologic disorders (neutropenia, anaemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal centre formation. 900000000000017005 +3758264014 20190731 1 900000000000207008 90968009 en 900000000000550004 Gestation period extended beyond 42 weeks or 294 days from the first day of the last menstrual period. 900000000000017005 +3758268012 20190731 1 900000000000207008 783249007 en 900000000000550004 A rare genetic primary immunodeficiency due to a defect in adaptive immunity disorder with characteristics of normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells. 900000000000017005 +3758278010 20190731 1 900000000000207008 783250007 en 900000000000550004 A rare genetic coagulation disorder with characteristics of a tendency to develop thrombosis resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others. There is evidence the disease is caused by heterozygous mutation in the HRG gene on chromosome 3q27. 900000000000017005 +3758279019 20190731 1 900000000000207008 783250007 en 900000000000550004 A rare genetic coagulation disorder with characteristics of a tendency to develop thrombosis resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discolouration, among others. There is evidence the disease is caused by heterozygous mutation in the HRG gene on chromosome 3q27. 900000000000017005 +3758283019 20190731 1 900000000000207008 783251006 en 900000000000550004 A rare genetic isolated constitutional thrombocytopenia disease with characteristics of decreased platelet counts not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported. 900000000000017005 +3758300017 20190731 1 900000000000207008 783254003 en 900000000000550004 A rare genetic hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. 900000000000017005 +3758301018 20190731 1 900000000000207008 783254003 en 900000000000550004 A rare genetic haemoglobinopathy characterised by generally mild clinical phenotype, high fetal haemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. 900000000000017005 +3758305010 20190731 1 900000000000207008 783255002 en 900000000000550004 A rare genetic constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent. 900000000000017005 +3758306011 20190731 1 900000000000207008 783255002 en 900000000000550004 A rare genetic constitutional aplastic anaemia disorder characterised by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent. 900000000000017005 +3758309016 20190731 1 900000000000207008 783256001 en 900000000000550004 A rare life-threatening genetic coagulation disorder with characteristics of an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis. 900000000000017005 +3758313011 20190731 1 900000000000207008 783257005 en 900000000000550004 A rare peripheral neuropathy with characteristics of acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously and it might be recurrent with no obvious precipitating factors. 900000000000017005 +3758317012 20190731 1 900000000000207008 783258000 en 900000000000550004 A rare neurodegenerative disease with characteristics of progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves. Caused by mutation in the ITM2B gene. 900000000000017005 +3758342015 20190731 1 900000000000207008 417575008 en 900000000000550004 The dysfunctional myofascial tissues are loaded and then guided towards the position of greatest ease. 900000000000017005 +3758357010 20190731 1 900000000000207008 417656005 en 900000000000550004 The part of the osteopathic structural examination that focuses on the static and dynamic responses of the body to gravity while in the erect position. 900000000000017005 +3758371019 20190731 1 900000000000207008 416240000 en 900000000000550004 A condition of optimal distribution of body mass in relation to gravity. 900000000000017005 +3758376012 20190731 1 900000000000207008 417331008 en 900000000000550004 The examination of a patient by an osteopathic practitioner with emphasis on the neuromusculoskeletal system via inspection, motion testing, and palpation with the goal of determining the cause of the patients complaint and any associated somatic dysfunction. 900000000000017005 +3759298013 20190731 1 900000000000207008 783549006 en 900000000000550004 A rare genetic form of obesity characterised by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidaemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported. 900000000000017005 +3759299017 20190731 1 900000000000207008 783549006 en 900000000000550004 A rare genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported. 900000000000017005 +3759306019 20190731 1 900000000000207008 783550006 en 900000000000550004 A rare genetic peripheral neuropathy with characteristics of congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhoea and/or constipation. Cognitive development is normal. Caused by heterozygous mutation in the SCN11A gene on chromosome 3p22. 900000000000017005 +3759307011 20190731 1 900000000000207008 783550006 en 900000000000550004 A rare genetic peripheral neuropathy with characteristics of congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal. Caused by heterozygous mutation in the SCN11A gene on chromosome 3p22. 900000000000017005 +3759311017 20190731 1 900000000000207008 783551005 en 900000000000550004 A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. 900000000000017005 +3759312012 20190731 1 900000000000207008 783551005 en 900000000000550004 A rare syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. 900000000000017005 +3759322018 20190731 1 900000000000207008 783553008 en 900000000000550004 A rare genetic congenital limb malformation syndrome with characteristics of a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of fifth fingers, mesoaxial camptodactyly of toes and ulnar deviation of third fingers. Additional variable manifestations include bifid toes and severe syndactyly or synpolydactyly involving all digits of hands and feet. 900000000000017005 +3759332013 20190731 1 900000000000207008 783554002 en 900000000000550004 A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder with characteristics of infantile to childhood-onset of slowly progressive, principally proximal shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures and muscle hypertrophy usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities. 900000000000017005 +3759335010 20190731 1 900000000000207008 783555001 en 900000000000550004 A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. 900000000000017005 +3759339016 20190731 1 900000000000207008 783556000 en 900000000000550004 A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour. 900000000000017005 +3759340019 20190731 1 900000000000207008 783556000 en 900000000000550004 A rare genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior. 900000000000017005 +3759347016 20190731 1 900000000000207008 783558004 en 900000000000550004 A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss and renal disease. Additional variably observed clinical features include intellectual disability, seizures, and cardiomyopathy. Caused by homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25. 900000000000017005 +3759351019 20190731 1 900000000000207008 783559007 en 900000000000550004 A rare genetic congenital disorder of glycosylation with characteristics of severe pre and post-natal short stature, joint hyperlaxity with multiple dislocations (elbows, fingers, hips, knees), and facial dysmorphism (round flat face, high forehead, hypertelorism, prominent bulging eyes with under-eye shadows, hypoplastic midface, microstomia, protruding lips). Other associated features may include cutaneous hyperextensibility, learning difficulties and ocular abnormalities. Advanced carpal ossification, widened metaphyses, and, occasionally, radioulnar synostosis, scoliosis and a Swedish key appearance of the proximal femora is observed on imaging. 900000000000017005 +3759360010 20190731 1 900000000000207008 783562005 en 900000000000550004 A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. 900000000000017005 +3759491017 20190731 1 900000000000207008 783697000 en 900000000000550004 A complex hereditary spastic paraplegia with characteristics of delayed motor development, spasticity and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. 900000000000017005 +3759492012 20190731 1 900000000000207008 783698005 en 900000000000550004 A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33. 900000000000017005 +3759499015 20190731 1 900000000000207008 783612007 en 900000000000550004 A rare acquired retinal disorder with characteristics of unilateral acute onset rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning and normal retina. Gradual spontaneous visual recovery has been observed. 900000000000017005 +3759505019 20190731 1 900000000000207008 783614008 en 900000000000550004 A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminaemia and oedema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described. 900000000000017005 +3759506018 20190731 1 900000000000207008 783614008 en 900000000000550004 A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described. 900000000000017005 +3759509013 20190731 1 900000000000207008 783615009 en 900000000000550004 A rare porphyria characterised by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and haemorrhagic bullae typically on the back of the hands. Urine, plasma and faecal porphyrins are increased. 900000000000017005 +3759510015 20190731 1 900000000000207008 783615009 en 900000000000550004 A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased. 900000000000017005 +3759515013 20190731 1 900000000000207008 783616005 en 900000000000550004 A rare genetic lipodystrophy with characteristics of loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26. 900000000000017005 +3759516014 20190731 1 900000000000207008 783616005 en 900000000000550004 A rare genetic lipodystrophy with characteristics of loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidaemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26. 900000000000017005 +3759521012 20190731 1 900000000000207008 783617001 en 900000000000550004 A rare combined T- and B-cell immunodeficiency with characteristics of failure to thrive, severe diarrhoea, opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity. 900000000000017005 +3759522017 20190731 1 900000000000207008 783617001 en 900000000000550004 A rare combined T- and B-cell immunodeficiency with characteristics of failure to thrive, severe diarrhea, opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity. 900000000000017005 +3759525015 20190731 1 900000000000207008 783618006 en 900000000000550004 A rare genetic motor neuron disease with characteristics of slowly progressive predominantly proximal muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor and elevated serum creatine kinase at onset and later associates gait disturbances and impaired vibration sensation. There is evidence the disease is caused by heterozygous mutation in the CHCHD10 gene on chromosome 22q11. 900000000000017005 +3759529014 20190731 1 900000000000207008 783619003 en 900000000000550004 A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. 900000000000017005 +3759530016 20190731 1 900000000000207008 783619003 en 900000000000550004 A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. 900000000000017005 +3759534013 20190731 1 900000000000207008 783620009 en 900000000000550004 A rare genetic renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels. 900000000000017005 +3759535014 20190731 1 900000000000207008 783620009 en 900000000000550004 A rare genetic renal tubular disease characterised by hypophosphataemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels. 900000000000017005 +3759541019 20190731 1 900000000000207008 783621008 en 900000000000550004 A rare genetic primary immunodeficiency disease with characteristics of increased susceptibility to recurrent usually severe infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (for example systemic lupus erythematosus, glomerulonephritis) and atypical haemolytic uraemic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H. Caused by homozygous or compound heterozygous mutation in the gene encoding complement factor I on chromosome 4q25. 900000000000017005 +3759542014 20190731 1 900000000000207008 783621008 en 900000000000550004 A rare genetic primary immunodeficiency disease with characteristics of increased susceptibility to recurrent usually severe infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (for example systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H. Caused by homozygous or compound heterozygous mutation in the gene encoding complement factor I on chromosome 4q25. 900000000000017005 +3759545011 20190731 1 900000000000207008 783622001 en 900000000000550004 A complex hereditary spastic paraplegia with characteristics of mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported. 900000000000017005 +3759759019 20190731 1 900000000000207008 783696009 en 900000000000550004 A rare genetic endocrine disease with characteristics of a defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia. 900000000000017005 +3759760012 20190731 1 900000000000207008 783696009 en 900000000000550004 A rare genetic endocrine disease with characteristics of a defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males and hirsutism, oligoamenorrhoea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia. 900000000000017005 +3759767010 20190731 1 900000000000207008 783700001 en 900000000000550004 A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. 900000000000017005 +3759774017 20190731 1 900000000000207008 783701002 en 900000000000550004 A rare developmental defect during embryogenesis syndrome with characteristics of glabellar capillary malformation, congenital communicating hydrocephalus and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. 900000000000017005 +3759783010 20190731 1 900000000000207008 783703004 en 900000000000550004 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. 900000000000017005 +3759789014 20190731 1 900000000000207008 783704005 en 900000000000550004 A rare aggressive malignant epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and histologically by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastroesophageal reflux, weight loss, anemia, abdominal or chest pain/pressure, dyspnea, and/or hematemesis. Presence or history of Barrett esophagus is frequently associated. 900000000000017005 +3759790017 20190731 1 900000000000207008 783704005 en 900000000000550004 A rare aggressive malignant epithelial carcinoma of the oesophagus characterised, macroscopically, by an exophytic mass with central ulceration located on the oesophagus and histologically by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastrooesophageal reflux, weight loss, anaemia, abdominal or chest pain/pressure, dyspnoea, and/or haematemesis. Presence or history of Barrett oesophagus is frequently associated. 900000000000017005 +3759791018 20190731 1 900000000000207008 783705006 en 900000000000550004 A rare neurologic disease with characteristics of excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia. 900000000000017005 +3759797019 20190731 1 900000000000207008 783706007 en 900000000000550004 A very rare malignant epithelial neoplasm of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum an \ No newline at end of file