{"orpha":251863,"name":"Desmoplastic/nodular medulloblastoma","type":"Histopathological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251863/","orphanet_url":"https://www.orpha.net/en/disease/detail/251863","names":{"fr":{"name":"Médulloblastome desmoplasique/nodulaire","synonyms":["Médulloblastome à nodularité mixte"],"definition":"Le médulloblastome desmoplasique/nodulaire est un variant histologique du médulloblastome, une malignité embryonnaire souvent située dans l'un des hémisphères cérébelleux. Il survient plus fréquemment chez l'adulte et se manifeste par des signes tels que des vomissements et des céphalées."},"de":{"name":"Medulloblastom, desmoplastisches/noduläres"},"es":{"name":"Meduloblastoma desmoplásico/nodular","definition":"El meduloblastoma desmoplásico/nodular es una variante histológica del meduloblastoma (consulte este término), una neoplasia embrionaria. Se localiza a menudo en uno de los hemisferios cerebelosos, dándose con mayor frecuencia en adultos y se manifiesta con síntomas como vómitos y dolor de cabeza."},"it":{"name":"Medulloblastoma desmoplastico/nodulare","definition":"Il medulloblastoma nodulare/desmoplastico è una variante istologica del medulloblastoma (si veda questo termine), un tumore embrionale maligno, che si localizza spesso in uno degli emisferi cerebellari e interessa di solito gli adulti, con vomito e cefalea."},"nl":{"name":"Desmoplastisch/nodulair medulloblastoom","definition":"Desmoplastisch/nodulair medulloblastoom is een histologische variant van de embryonale aandoening medulloblastoom (zie deze term) die vaak is gesitueerd in één van de cerebrale hemisferen, voornamelijk voorkomt in volwassenen, en zich manifesteert met symptomen zoals braken en hoofdpijn."},"pt":{"name":"Meduloblastoma desmoplásico/nodular"},"pl":{"name":"Rdzeniak zarodkowy desmoplastyczny/guzkowy"},"cs":{"name":"Desmoplastický/nodulární meduloblastom"},"uk":{"name":"Десмопластична/вузлова медулобластома","definition":"Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache."},"zh":{"name":"促结缔组织增生性/结节性成神经管细胞瘤","definition":"促结缔组织增生性/结节性髓母细胞瘤是髓母细胞瘤(见该词条)的组织学变体，髓母细胞瘤是一种胚胎恶性肿瘤，通常位于小脑半球之一，最常发生在成人，表现为呕吐和头痛等症状。"},"tr":{"name":"Desmoplastik / nodüler medulloblastom"}},"xrefs":[{"source":"OMIM","code":"155255","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C71.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1978855815"},{"source":"ICD-11","code":"XH7PN5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"486302565"},{"source":"MONDO","code":"0016711","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751291","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":616,"name":"Medulloblastoma","classifications":[181,202]}],"children":[],"genes":[{"symbol":"SUFU","name":"SUFU negative regulator of hedgehog signaling","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21188540[PMID]_22508808[PMID]_12068298[PMID]_19833601[PMID]","hgnc":"16466","ensembl":"ENSG00000107882","omim":"607035","loci":["10q24.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}