{"orpha":645297,"name":"Extramedullary conus spinal cord lipoma","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-645297/","orphanet_url":"https://www.orpha.net/en/disease/detail/645297","names":{"fr":{"name":"Lipome spinal extramédullaire du cône","definition":"Malformation rare dysraphique fermée lipomateuse de la moelle épinière inférieure caractérisée par une masse lipomateuse extramédullaire attachée à la région du cône. Le cône est dysplasique et mal délimité. Différents sous-types morphologiques sont reconnus. Les symptômes sont multiples, incluant des troubles intestinaux et urinaires et une déformation neuro-orthopédique des membres inférieurs."},"de":{"name":"Extramedulläres Lipom des Conus spinalis","definition":"Eine seltene geschlossene lipomatöse dysraphische Entwicklungsstörung des unteren Rückenmarks, die durch eine extramedulläre lipomatöse Gewebsverdichtung im Bereich des Konus gekennzeichnet ist. Der Konus ist dysplastisch und unscharf begrenzt. Es werden verschiedene morphologische Subtypen unterschieden. Mögliche Begleiterscheinungen sind Darm- und Blasenfunktionsstörungen sowie neuroorthopädische Fehlbildungen der unteren Extremitäten."},"es":{"name":"Lipoma espinal del cono extramedular","definition":"Es una malformación lipomatosa disráfica cerrada poco frecuente de la médula espinal inferior caracterizada por una masa lipomatosa extramedular adherida a la región del cono. El cono es displásico y está mal delimitado. Se reconocen varios subtipos morfológicos. Los posibles síntomas incluyen disfunción intestinal y vesical y deformidad neuro-ortopédica de las extremidades inferiores."},"it":{"name":"Lipoma spinale extramidollare del cono"},"nl":{"name":"Extramedullair lipoom van conus medullaris","definition":"Een zeldzame gesloten lipomateuze dysrafische malformatie van onderste ruggenmerg, gekenmerkt door een extramedullaire lipomateuze massa die is vastgehecht aan de regio van de conus medullaris. De conus is dysplastisch en weinig afgebakend. Er worden verschillende morfologische subtypes herkend. Mogelijke symptomen zijn onder meer darm- en blaasdisfunctie en neuro-orthopedische deformiteit van onderste ledematen."},"pt":{"name":"Lipoma extramedular do cone medular","definition":"Malformação disráfica lipomatosa fechada rara da medula espinal inferior caracterizada por uma massa lipomatosa extramedular ligada à região do cone. O cone é displásico e mal delineado. São reconhecidos vários subtipos morfológicos. Os possíveis sintomas incluem disfunção intestinal e da bexiga e deformidade neuro-ortopédica dos membros inferiores."},"pl":{"name":"Tłuszczak zewnątrzrdzeniowy stożka rdzenia kręgowego","definition":"Rzadka zamknięta tłuszczakowata, dysraficzna malformacja dolnego odcinka rdzenia kręgowego charakteryzująca się pozaszpikową masą tłuszczakowatą zakotwiczoną w okolicy stożka. Stożek jest dysplastyczny i słabo odgraniczony. Rozpoznaje się różne podtypy morfologiczne. Możliwe objawy obejmują dysfunkcję jelit i pęcherza oraz deformację neuroortopedyczną kończyn dolnych."},"cs":{"name":"Extramedulární lipom konusu míšního"},"uk":{"name":"Екстрамедулярна конусоподібна ліпома спинного мозку","definition":"A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs."}},"xrefs":[{"source":"ICD-10","code":"Q06.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0968987","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"968987","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816726","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":645367,"name":"Conus spinal cord lipoma","classifications":[147,156,181]}],"children":[{"orpha":645294,"name":"Posterior extramedullary conus spinal cord lipoma","type":"Clinical subtype"},{"orpha":645288,"name":"Terminal extramedullary conus spinal cord lipoma","type":"Clinical subtype"},{"orpha":645291,"name":"Transitional extramedullary conus spinal cord lipoma","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":[],"prevalence":[],"phenotypes":null}