{"orpha":645401,"name":"True myeloschisis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-645401/","orphanet_url":"https://www.orpha.net/en/disease/detail/645401","names":{"fr":{"name":"Myéloschisis vrai","definition":"Anomalie rare du tube neural de type ouvert caractérisée par l'absence d'autre malformation qu'un myéloschisis, qui est un spina bifida avec une placode neurale exposée au niveau ou en dessous du plan cutané et d'une malformation de Chiari II."},"de":{"name":"Echte Myeloschisis","definition":"Ein seltener offener Neuralrohrdefekt, der durch eine isolierte Myeloschisis (Spina bifida mit einer neuralen Plakode, die an oder unter der Hautoberfläche freiliegt, und Chiari-II-Malformation) gekennzeichnet ist."},"es":{"name":"Mielosquisis verdadera","definition":"Es un defecto abierto del tubo neural, poco frecuente, caracterizado por mielosquisis (espina bífida con una placoda neural expuesta en el plano de la piel o debajo de él y malformación de Chiari II) como única manifestación."},"it":{"name":"Mieloschisi vera"},"nl":{"name":"Ware myeloschisis","definition":"Een zeldzaam neuralebuisdefect, gekenmerkt door enkel myeloschisis als malformatie (spina bifida met een neurale placode blootgesteld aan of onder het huidoppervlak en Chiari-malformatie type II)."},"pt":{"name":"Mielosquise verdadeira","definition":"Defeito aberto raro do tubo neural caracterizado por nenhuma outra malformação para além de mielosquise (espinha bífida com placóide neural exposto no plano da pele ou abaixo deste e malformação de Chiari II)."},"pl":{"name":"Prawdziwy rozszczep rdzenia kręgowego","definition":"Rzadka otwarta wada cewy nerwowej, charakteryzująca się jedynie rozszczepem rdzenia kręgowego (rozszczep kręgosłupa z odsłoniętym łożyskiem nerwowym w płaszczyźnie skóry lub poniżej oraz malformacją Chiariego II)."},"cs":{"name":"Pravá myeloschíza"},"uk":{"name":"Істинний мієлошизис","definition":"A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation)."}},"xrefs":[{"source":"MONDO","code":"0958352","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816711","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":645398,"name":"Myeloschisis","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":[],"prevalence":[],"phenotypes":null}