{"orpha":645383,"name":"True myelomeningocele","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["True MMC"],"definition":"A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-645383/","orphanet_url":"https://www.orpha.net/en/disease/detail/645383","names":{"fr":{"name":"Myéloméningocèle vrai","synonyms":["MMC vrai"],"definition":"Malformation rare du tube neural caractérisée par l'absence d'autre malformation qu'une myéloméningocèle, qui est un spina bifida avec une placode neurale exposée au sommet d'un sac de méninges dysplasiques non épidermisé et d'une malformation de Chiari II."},"de":{"name":"Echte Myelomeningozele","synonyms":["Echte MMC"],"definition":"Ein seltener offener Neuralrohrdefekt, der durch keine andere Fehlbildung als die Myelomeningozele gekennzeichnet ist (Spina bifida mit freiliegender neuraler Plakode an der Spitze eines nicht epidermisierten dysplasischen Hirnhautsacks und Chiari-II-Fehlbildung)."},"es":{"name":"Mielomeningocele verdadero","synonyms":["MMC verdadero"],"definition":"Es un defecto abierto poco frecuente del tubo neural caracterizado por mielomeningocele (espina bífida con exposición de la placoda neural en la parte superior de un saco meníngeo displásico no epidermizado y malformación de Chiari II) sin ninguna otra malformación asociada."},"it":{"name":"Mielomeningocele vero","synonyms":["MMC vero"]},"nl":{"name":"Ware myelomeningocele","synonyms":["Ware MMC"],"definition":"Een zeldzaam neuralebuisdefect, gekenmerkt door enkel myelomeningocele als malformatie (spina bifida met een neurale placode blootgesteld aan de top van een dysplastische zakvormige uitstulping van hersenvliezen niet bekleed met epidermis en Chiari-malformatie type II)."},"pt":{"name":"Mielomeningocelo verdadeiro","synonyms":["MMC verdadeiro"],"definition":"Defeito do tubo neural aberto, raro, caracterizado por nenhuma outra malformação para além da mielomeningocele (espinha bífida com um placóide neural exposto no topo de um saco meníngeo displásico não epidermizado e malformação de Chiari II)."},"pl":{"name":"Prawdziwa przepuklina oponowo-rdzeniowa","synonyms":["True MMC"],"definition":"Rzadka otwarta wada cewy nerwowej, charakteryzująca się wyłącznie obecnością przepukliny oponowo-rdzeniowej (rozszczep kręgosłupa z łożyskiem nerwowym odsłoniętym na szczycie dysplastycznego worka oponowego niepokrytego naskórkiem oraz malformacja Chiariego typu II)."},"cs":{"name":"Pravá myelomeningokéla","synonyms":["True MMC"]},"uk":{"name":"Істинне мієломенінгоцеле","synonyms":["Справжній MMC"],"definition":"A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation)."}},"xrefs":[{"source":"MONDO","code":"0957453","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816713","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93969,"name":"Open spinal dysraphism with a myelomeningocele","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":[],"prevalence":[],"phenotypes":null}