{"orpha":1671,"name":"Split cord malformation type I","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Diastematomyelia","SCM type 1","SCM type I","Split cord malformation type 1"],"definition":"A rare subtype of split cord malformation characterized by each hemicord contained in its own dural sac, typically with a intervening bony septum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1671/","orphanet_url":"https://www.orpha.net/en/disease/detail/1671","names":{"fr":{"name":"Moelle épinière dédoublée type I","synonyms":["Diastématomyélie","Moelle épinière dédoublée type 1","SCM type 1","SCM type I"],"definition":"Sous-type rare de malformation de la moelle épinière dédoublée caractérisée par la présence de deux sacs duraux contenant chacun une des hémimoelles, généralement séparés par un éperon osseux."},"de":{"name":"Split-Cord-Malformation Typ I","synonyms":["Diastematomyelie","SCM Typ 1","SCM Typ I"],"definition":"Ein seltener Neuralrohrdefekt, der durch eine örtlich begrenzte Längsteilung des Rückenmarks mit einem dazwischen liegenden knöchernen, knorpeligen oder faserigen Septum und einem doppelten Duralsack gekennzeichnet."},"es":{"name":"Malformación de médula espinal hendida tipo I","synonyms":["Malformación de médula espinal hendida tipo 1","SCM tipo 1","SCM tipo I"],"definition":"Es un subtipo poco frecuente de malformación de la médula hendida que se caracteriza por que cada hemicordón está contenido en su propio saco dural, típicamente con un tabique óseo intermedio."},"it":{"name":"Malformazione da fissurazione longitudinale del midollo spinale tipo I","definition":"È un difetto raro del tubo neurale, caratterizzato da una divisione longitudinale localizzata del midollo spinale, con interposizione di un setto osseo, cartilagineo o fibroso, e un doppio sacco durale, di solito a livello toracico o lombare. Può associarsi a difetti segmentali delle vertebre, siringomielia, meningocele e tumori intraspinali. Il quadro clinico è variabile, e comprende il dolore, la scoliosi, l'asimmetria e la debolezza degli arti inferiori, i deficit neurologici, le disfunzioni sfinteriche e diverse anomalie della cute in corrispondenza della colonna, come l'ipertricosi, le fossette, gli emangiomi, le masse sottocutanee o i nevi pigmentati."},"nl":{"name":"Gespleten ruggenmerg-malformatie type I","synonyms":["Gespleten ruggenmerg-malformatie type 1","SCM type 1","SCM type I"],"definition":"Een zeldzaam subtype van gespleten ruggenmerg-malformatie, gekenmerkt door twee helften van het ruggenmerg (hemicord) die elk ingesloten zijn in een eigen durale zak, doorgaans met een tussenliggend benig septum."},"pt":{"name":"Malformação do cordão dividido tipo I","definition":"Subtipo raro de malformação da medula dividida caracterizado por cada hemimedula estar contida no seu próprio saco dural, tipicamente com um septo ósseo interveniente."},"pl":{"name":"Rozdwojenie rdzenia kręgowego typu 1","synonyms":["Diastematomyelia","SCM type 1","SCM type I","Split cord malformation type 1"],"definition":"Rzadki podtyp rozszczepu rdzenia kręgowego, charakteryzujący się tym, że każda jego połowa znajduje się w swoim własnym worku opony twardej, zazwyczaj z pośrednią przegrodą kostną."},"cs":{"name":"Diastematomyelie, typ 1","synonyms":["Diastematomyelia","SCM type 1","SCM type I","Split cord malformation type 1"]},"uk":{"name":"Розщеплення пуповини, тип I","synonyms":["Діастематомієлія","SCM тип 1","SCM тип I","Розщеплення пуповини, тип 1"],"definition":"A rare subtype of split cord malformation characterized by each hemicord contained in its own dural sac, typically with a intervening bony septum."},"zh":{"name":"脊髓分裂畸形1型","synonyms":["脊髓分裂畸形1型"]},"tr":{"name":"Ayrık omurilik malformasyonu tip I","synonyms":["SCM tipi 1","SCM tip I","Ayrık kordon malformasyonu tip 1"]}},"xrefs":[{"source":"OMIM","code":"222500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q06.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA07.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009106","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5566552","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1851","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10012750","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":573278,"name":"Split cord malformation","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22371545[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100563","label":"Diastomatomyelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null}]}}