{"orpha":645282,"name":"Anomaly of the filum","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare group of dysraphic abnormality characterized by anatomical anomaly of the filum. The filum lacks its normal characteristics (thin, loose extension of the pia mater under the termination of the spinal cord).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-645282/","orphanet_url":"https://www.orpha.net/en/disease/detail/645282","names":{"fr":{"name":"Anomalie du filum","definition":"Groupe rare d'anomalies dysraphiques caractérisées par une anomalie anatomique du filum. Le filum ne présente pas ses caractéristiques normales (extension mince et lâche de la pie-mère sous la terminaison de la moelle épinière)."},"de":{"name":"Anomalie des Filum","definition":"Eine Gruppe von Dysraphien, die durch anatomische Anomalien des Filums gekennzeichnet sind. Dem Filum fehlen seine normalen Eigenschaften (dünne, lockere Verlängerung der Pia mater unter dem Ende des Rückenmarks)."},"es":{"name":"Anomalía del filum","definition":"Es un grupo poco frecuente de disrafismos espinales caracterizado por una anomalía anatómica del filum. El filum carece de sus características normales (extensión delgada y laxa de la piamadre debajo de la terminación de la médula espinal)."},"it":{"name":"Anomalia del filum"},"nl":{"name":"Anomalie van filum","definition":"Een zeldzame groep van dysrafische afwijkingen, gekenmerkt door anatomische anomalie van filum. Het filum vertoont niet de normale kenmerken (dunne, losse extensie van zacht hersenvlies onder het uiteinde van het ruggenmerg)."},"pt":{"name":"Anomalia do filo medular","definition":"Grupo raro de anomalias disráficas caracterizado por uma anomalia anatómica do filo. O filo não tem as suas caraterísticas normais (extensão fina e solta da pia-máter sob a terminação da medula espinhal)."},"pl":{"name":"Anomalia nici końcowej","definition":"Rzadka grupa nieprawidłowości dysraficznych charakteryzująca się anomalią anatomiczną nici (filum). Filum nie ma swoich prawidłowych cech (cienkie, luźne przedłużenie opony miękkiej pod zakończeniem rdzenia kręgowego)."},"cs":{"name":"Anomálie filu"},"uk":{"name":"Аномалія філума","definition":"A rare group of dysraphic abnormality characterized by anatomical anomaly of the filum. The filum lacks its normal characteristics (thin, loose extension of the pia mater under the termination of the spinal cord)."}},"xrefs":[{"source":"UMLS","code":"C5816730","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268357,"name":"Neural tube closure defect","classifications":[147,156,181]}],"children":[{"orpha":645279,"name":"Fibrolipomatous filum anomaly","type":"Clinical group"},{"orpha":645334,"name":"Retained medullary cord","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}