{"orpha":645354,"name":"Saccular limited dorsal myeloschisis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Saccular LDM"],"definition":"A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-645354/","orphanet_url":"https://www.orpha.net/en/disease/detail/645354","names":{"fr":{"name":"Myéloschisis dorsal limité sacculaire","synonyms":["LDM sacculaire"],"definition":"Forme rare de myéloschisis dorsal limité (LDM) caractérisée par l'attachement de la tige à l'apex d'une méningocèle entièrement épithélialisée. Il n'y a pas de malformation de Chiari II."},"de":{"name":"Sakkuläre begrenzte dorsale Myeloschisis","synonyms":["Sakkuläre LDM"],"definition":"Eine seltene Form der begrenzten dorsalen Myeloschisis (LDM), bei der der Stiel am Apex einer vollständig epithelisierten Meningozele befestigt ist. Eine Chiari II-Fehlbildung liegt nicht vor."},"es":{"name":"Mielosquisis dorsal limitada sacular","synonyms":["MDL sacular"],"definition":"Es una forma poco frecuente de mielosquisis dorsal limitada (MDL), caracterizada por el tallo adherido al ápice de un meningocele completamente epitelizado. No asocia malformación de Chiari II."},"it":{"name":"Mieloschisi sacculare limitata al dorso","synonyms":["LDM sacculare"]},"nl":{"name":"Sacculaire beperkte dorsale myeloschisis","synonyms":["Sacculaire LDM"],"definition":"Een zeldzame vorm van beperkte dorsale myeloschisis (LDM), gekenmerkt door aanhechting van de steel aan de apex van een volledig met epitheel beklede meningocele. Chiari-malformatie type II is niet aanwezig."},"pt":{"name":"Mielosquisis sacular dorsal limitada","synonyms":["LDM sacular"],"definition":"Forma rara de mielosquise dorsal limitada (MDL), caracterizada por um pedúnculo ligado ao ápex de uma meningocele totalmente epitelizada. A malformação de Chiari II não está presente."},"pl":{"name":"Workowaty ograniczony rozszczep części grzbietowej rdzenia kręgowego","synonyms":["Saccular LDM"],"definition":"Rzadka postać ograniczonego grzbietowego rozszczepu rdzenia kręgowego, charakteryzująca się obecnością szypuły przyczepionej do wierzchołka przepukliny oponowo-rdzeniowej w pełni pokrytej nabłonkiem. Malformacja Chiariego typu II nie występuje."},"cs":{"name":"Sakulární omezená dorzální myeloschíza","synonyms":["Saccular LDM"]},"uk":{"name":"Саккулярний обмежений дорсальний мієлошизис","synonyms":["Сакральний LDM"],"definition":"A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present."}},"xrefs":[{"source":"ICD-10","code":"Q76.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0970963","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"970963","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816715","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":645319,"name":"Saccular spinal dysraphism with a stalk to the dome","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":[],"prevalence":[],"phenotypes":null}