{"orpha":645343,"name":"Non-saccular limited dorsal myeloschisis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Flat LDM","Non-saccular LDM"],"definition":"A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-645343/","orphanet_url":"https://www.orpha.net/en/disease/detail/645343","names":{"fr":{"name":"Myéloschisis dorsal limité non-sacculaire","synonyms":["LDM non sacculaire","LDM plat"],"definition":"Forme rare de myéloschisis dorsal limité (LDM) caractérisée par un stigmate cutané non sacculaire (anomalie de la ligne médiane de la peau, classiquement une fossette, un cratère ou parfois un angiome), la tige étant attachée à ce stigmate cutané. La tige fibroneurale varie en épaisseur et en complexité."},"de":{"name":"Nicht-sakkuläre begrenzte dorsale Myeloschisis","synonyms":["Flache LDM","Nicht-sakkuläre LDM"],"definition":"Eine seltene Form der begrenzten dorsalen Myeloschisis (LDM), die durch eine nicht-sakkuläre kutane Stigmata (Mittellinien-Hautanomalie, die klassischerweise eine Grübchen-, Gruben- oder manchmal Angiomform aufweist) gekennzeichnet ist, wobei der Stiel an dieser kutanen Stigmata befestigt ist. Der fibroneurale Stiel variiert in Dicke und Komplexität."},"es":{"name":"Mielosquisis dorsal limitada no sacular","synonyms":["MDL no sacular","MDL plana"],"definition":"Es una forma poco frecuente de mielosquisis dorsal limitada (MDL), caracterizada por estigmas cutáneos no saculares (anomalía de la piel en la línea media, clásicamente hoyuelo, fosita o, en ocasiones, angioma) adheridos al tallo. El tallo fibroneural varía en grosor y complejidad."},"it":{"name":"Mieloschisi non sacculare limitata al dorso","synonyms":["LDM non sacculare","LDM piatta"]},"nl":{"name":"Niet-sacculaire beperkte dorsale myeloschisis","synonyms":["Niet-sacculaire LDM","Platte LDM"],"definition":"Een zeldzame vorm van beperkte dorsale myeloschisis (LDM), gekenmerkt door een niet-sacculair cutaan stigma (mediaan gelegen huidafwijking, doorgaans deukje, kuiltje of soms angioom), met een stel die is aangehecht aan dit cutaan stigma. De fibroneurale steel varieert in dikte en complexiteit."},"pt":{"name":"Mielosquisis não-sacular dorsal limitada","synonyms":["LDM não-sacular","LDM plana"],"definition":"Forma rara de mielosquise dorsal limitada (MDL), caracterizada por estigmas cutâneos não saculares (anomalias cutâneas da linha média, classicamente covinha, fosseta ou, por vezes, angioma), estando o pedúnculo ligado a estes estigmas cutâneos. O pedúnculo fibroneural varia em espessura e complexidade."},"pl":{"name":"Nieworkowaty ograniczony rozszczep grzbietowej części rdzenia kręgowego","synonyms":["Flat LDM","Non-saccular LDM"],"definition":"Rzadka postać ograniczonego grzbietowego rozszczepu rdzenia, który charakteryzuje się nieworkowatymi znamionami skórnymi (nieprawidłowość skóry w linii pośrodkowej, klasycznie w postaci wgłębienia, dołka lub czasami naczyniaka), do których przyczepiona jest szypuła. Włóknista szypuła ma różną grubość i złożoność."},"cs":{"name":"Omezená dorzální myeloschíza bez vaku","synonyms":["Flat LDM","Non-saccular LDM"]},"uk":{"name":"Несакральний обмежений дорсальний мієлошизис","synonyms":["Плоский LDM","Несакральна LDM"],"definition":"A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity."}},"xrefs":[{"source":"ICD-10","code":"Q76.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0968989","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"968989","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816717","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":645196,"name":"Limited dorsal myeloschisis","classifications":[147,156,181]}],"children":[{"orpha":645310,"name":"Fibroneural non-saccular limited dorsal myeloschisis","type":"Histopathological subtype"},{"orpha":645300,"name":"Lipomatous non-saccular limited dorsal myeloschisis","type":"Histopathological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":[],"prevalence":[],"phenotypes":null}