{"orpha":251855,"name":"Anaplastic/large cell medulloblastoma","type":"Histopathological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251855/","orphanet_url":"https://www.orpha.net/en/disease/detail/251855","names":{"fr":{"name":"Médulloblastome anaplasique à grandes cellules","definition":"Le médulloblastome anaplasique à grandes cellules est un variant histologique du médulloblastome, une malignité embryonnaire associée à un taux de survie très bas et un risque accru de maladie métastatique. Il se manifeste par des signes d'augmentation de la pression intracrânienne, tels que des vomissements, des céphalées, une apathie, un papilloedème et une diplopie."},"de":{"name":"Medulloblastom, anaplastisches/großzelliges"},"es":{"name":"Meduloblastoma anaplásico de células grandes","definition":"Es una variante histológica del meduloblastoma, una neoplasia embrionaria. Está asociado con tasas de supervivencia extremadamente bajas y un elevado riesgo de enfermedad metastásica y se manifiesta con síntomas de aumento de la presión intracraneal como vómitos, dolor de cabeza, languidez, papiledema y diplopía."},"it":{"name":"Medulloblastoma anaplastico a grandi cellule","definition":"Il medulloblastoma anaplastico a grandi cellule è una variante istologica del medulloblastoma (si veda questo termine), un tumore embrionale maligno, che comporta tassi di sopravvivenza estremamente bassi ed ha un elevato rischio di metastatizzare. Presenta i sintomi dell'aumento della pressione intracranica, compreso il vomito, la cefalea, l'apatia, il papilledema e la diplopia."},"nl":{"name":"Anaplastisch/grootcellig medulloblastoom","definition":"Een histologische variant van medulloblastoom, een embryonale maligniteit, geassocieerd met een uiterst lage overleving en een hoog risico op uitzaaiingen, en gekarakteriseerd door symptomen van verhoogde intracraniële druk zoals braken, hoofdpijn, lusteloosheid, papiloedeem en diplopie."},"pt":{"name":"Meduloblastoma de grandes células/anaplásico"},"pl":{"name":"Rdzeniak zarodkowy anaplastyczny/olbrzymiokomórkowy"},"cs":{"name":"Anaplastický/velkobuněčný meduloblastom"},"uk":{"name":"Анапластична/великоклітинна медулобластома","definition":"A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia."},"zh":{"name":"间变性/大细胞成神经管细胞瘤","definition":"髓母细胞瘤的一种组织学变体，是一种胚胎恶性肿瘤，与极低的存活率和极高的转移疾病风险有关，表现为颅内压升高的症状，如呕吐、头痛、无精打采、乳头水肿和复视"},"tr":{"name":"Anaplastik / büyük hücreli medulloblastom"}},"xrefs":[{"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":"1625424542"},{"source":"MONDO","code":"0016709","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4330531","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}