{"orpha":645276,"name":"Spinal cord lipoma","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare group of malformation characterized by the presence of lipomatous mass in direct contact with the spinal cord. It includes dysraphic (extramedullary) spinal cord lipomas and non-dysraphic (intramedullary) spinal cord lipoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-645276/","orphanet_url":"https://www.orpha.net/en/disease/detail/645276","names":{"fr":{"name":"Lipome médullaire","synonyms":["Lipome de la moelle épinière"],"definition":"Groupe rare de malformations caractérisé par la présence d'une masse lipomateuse en contact direct avec la moelle épinière. Le groupe inclut des lipomes médullaires dysraphiques (extramédullaires) et non-dysraphiques (intramédullaires)."},"de":{"name":"Spinales Lipom","synonyms":["Spinale Lipomatose"],"definition":"Eine seltene Gruppe von Fehlbildungen, die durch das Vorhandensein einer lipomatösen Gewebemasse in direktem Kontakt mit dem Rückenmark gekennzeichnet ist. Dazu gehören dysraphische (extramedulläre) Rückenmarkslipome und nicht-dysraphische (intramedulläre) Rückenmarkslipome."},"es":{"name":"Lipoma espinal","definition":"Es un grupo poco frecuente de malformaciones caracterizado por la presencia de una masa lipomatosa en contacto directo con la médula espinal. Incluye los lipomas de médula espinal disráficos (extramedulares) y los lipomas de médula espinal no disráficos (intramedulares)."},"it":{"name":"Lipoma spinale"},"nl":{"name":"Lipoom van ruggenmerg","definition":"Een zeldzame groep van malformaties, gekenmerkt door de aanwezigheid van lipomateuze massa in direct contact met het ruggenmerg. Het omvat dysrafische (extramedullaire) lipomen van ruggenmerg en niet-dysrafische (intramedullaire) lipomen van ruggenmerg."},"pt":{"name":"Lipoma espinhal","definition":"Grupo raro de malformações caracterizado pela presença de uma massa lipomatosa em contato direto com a medula espinhal. Inclui lipomas disráficos (extramedulares) da medula espinhal e lipomas não disráficos (intramedulares) da medula espinhal."},"pl":{"name":"Tłuszczak rdzenia kręgowego","definition":"Rzadka grupa wad rozwojowych charakteryzująca się obecnością masy tłuszczakowatej w bezpośrednim kontakcie z rdzeniem kręgowym. Obejmuje tłuszczaki dysraficzne (zewnątrzrdzeniowe) i niedysraficzne (wewnątrzrdzeniowe) rdzenia kręgowego."},"cs":{"name":"Lipom míchy"},"uk":{"name":"Ліпома спинного мозку","definition":"A rare group of malformation characterized by the presence of lipomatous mass in direct contact with the spinal cord. It includes dysraphic (extramedullary) spinal cord lipomas and non-dysraphic (intramedullary) spinal cord lipoma."}},"xrefs":[{"source":"MONDO","code":"0001790","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"1790","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0347446","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064898","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":645273,"name":"Dysraphic spinal cord lipoma","type":"Clinical group"},{"orpha":645359,"name":"Intramedullary non-dysraphic spinal cord lipoma","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}