{"orpha":645279,"name":"Fibrolipomatous filum anomaly","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare group of malformation characterized by the infiltration of fibrous-fatty tissue in the filum terminale with resultant thickening. The tip of the conus can be normal (pointed) or abnormal (blunted).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-645279/","orphanet_url":"https://www.orpha.net/en/disease/detail/645279","names":{"fr":{"name":"Anomalie fibrolipomateuse du filum","definition":"Groupe rare de malformations caractérisées par l'infiltration de tissu fibro-adipeux dans le filum terminale avec l'épaississement qui en résulte. L'extrémité du cône peut être normale (pointue) ou anormale (émoussée)."},"de":{"name":"Fibrolipomatöse Anomalie des Filum terminale","definition":"Eine seltene Fehlbildung, die durch die Infiltration von fibrösem Fettgewebe im Filum terminale mit daraus resultierender Verdickung gekennzeichnet ist. Die Spitze des Konus kann normal (spitz) oder abnormal (stumpf) sein."},"es":{"name":"Anomalía del filum fibrolipomatoso","definition":"Es un grupo poco frecuente de malformaciones caracterizado por la infiltración de tejido fibroadiposo en el filum terminal con el consiguiente engrosamiento. La punta del cono puede ser normal (puntiaguda) o anómala (roma)."},"it":{"name":"Anomalia fibrolipomatosa del filum"},"nl":{"name":"Fibrolipomateuze anomalie van filum","definition":"Een zeldzame groep van malformaties, gekenmerkt door infiltratie van fibreus vetweefsel in filum terminale, wat resulteert in verdikking. Het uiteinde van de conus kan normaal (spits) of abnormaal (afgestompt) zijn."},"pt":{"name":"Anomalia do filo medular fibrolipomatoso","definition":"Grupo raro de malformações caracterizadas por infiltração de tecido fibroso-adiposo no filo terminal resultando em espessamento. A ponta do cone pode ser normal (pontiaguda) ou anormal (romba)."},"pl":{"name":"Anomalia włókisto-tłuszczakowa nici końcowej","definition":"Rzadka grupa wad rozwojowych charakteryzująca się naciekiem tkanki włóknisto-tłuszczowej w nici końcowej, co powoduje jej pogrubienie. Końcówka stożka może być prawidłowa (szpiczasta) lub nieprawidłowa (stępiona)."},"cs":{"name":"Fibrolipomatózní anomálie filum terminale"},"uk":{"name":"Фіброліпоматозна філаментна аномалія","definition":"A rare group of malformation characterized by the infiltration of fibrous-fatty tissue in the filum terminale with resultant thickening. The tip of the conus can be normal (pointed) or abnormal (blunted)."}},"xrefs":[{"source":"UMLS","code":"C5816812","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":645282,"name":"Anomaly of the filum","classifications":[147,156,181]}],"children":[{"orpha":645325,"name":"Isolated filum lipoma","type":"Morphological anomaly"},{"orpha":645322,"name":"Isolated transitional filum lipoma","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}