{"orpha":645193,"name":"Dysraphism with stalk","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-645193/","orphanet_url":"https://www.orpha.net/en/disease/detail/645193","names":{"fr":{"name":"Dysraphisme à tractus","definition":"Groupe de dysraphismes spinaux fermés rares caractérisé par la présence d'une tige anormale reliant la peau à la moelle épinière sous-jacente. La composition de la tige est variable et peut contenir du tissu neural non-fonctionnel, du tissu mésenchymateux fibreux et des éléments dermiques/épidermiques."},"de":{"name":"Dysraphie mit Stiel","definition":"Eine seltene Gruppe geschlossener spinaler Dysraphien, die durch das Vorhandensein eines Stiels gekennzeichnet sind, der die Haut mit dem darunter liegenden Rückenmark verbindet. Der Stiel enthält variable Kombinationen von nicht funktionsfähigem Nervengewebe, fibrösem mesenchymalem Gewebe und dermalen/epidermalen Elementen."},"es":{"name":"Disrafismo con tallo","definition":"Es un grupo poco frecuente de disrafismos espinales cerrados caracterizado por la presencia de un tallo que conecta la piel con la médula espinal subyacente. El tallo contiene combinaciones variables de tejido neural no funcional, tejido mesenquimatoso fibroso y elementos dérmicos/epidérmicos."},"it":{"name":"Disrafismo associato ad un tratto"},"nl":{"name":"Dysrafie met steel","definition":"Een zeldzame groep van gesloten spinale dysrafieën, gekenmerkt door de aanwezigheid van een steel die de huid verbindt met het onderliggende ruggenmerg. De steel bevat variabele combinaties van niet-functioneel zenuwweefsel, fibreus mesenchymaal weefsel, en dermale/epidermale elementen."},"pt":{"name":"Disrafismo com pedúnculo","definition":"Grupo raro de disrafismos espinhais fechados caracterizado pela presença de um pedúnculo conectando a pele à medula espinhal subjacente. O pedúnculo contém combinações variáveis ​​de tecido neuronal não funcional, tecido mesenquimatoso fibroso e elementos dérmicos/epidérmicos."},"pl":{"name":"Wada dysraficzna z szypułą tkankową","definition":"Rzadka grupa zamkniętych wad dysraficznych kręgosłupa charakteryzująca się obecnością szypuły łączącej skórę z leżącym pod nią rdzeniem kręgowym. Szypuła zawiera różne kombinacje niefunkcjonalnej tkanki nerwowej, włóknistej tkanki mezenchymalnej i elementów skórnych / naskórkowych."},"cs":{"name":"Dysrafie se stopkou"},"uk":{"name":"Дизрафізм з ніжкою","definition":"A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements."}},"xrefs":[{"source":"UMLS","code":"C5816733","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":645202,"name":"Closed spinal dysraphism","classifications":[147,156,181]}],"children":[{"orpha":645196,"name":"Limited dorsal myeloschisis","type":"Clinical group"},{"orpha":645334,"name":"Retained medullary cord","type":"Morphological anomaly"},{"orpha":645188,"name":"Spinal dermal sinus","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}