Terminology Service for NFDI4Health
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medulloblastoma

Go to external page http://www.ebi.ac.uk/efo/EFO_0002939

A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity. [ ]

Term info

Label

medulloblastoma

Synonyms
  • Medulloblastomas
  • brain medulloblastoma
  • cerebellum embryonal neoplasm
  • medulloblastoma
  • medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation
  • medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation
  • medulloblastoma, malignant
  • medulloblastoma, somatic
  • medulloblastomas
database cross reference
Subsets

gard_rare, ordo_disease

closeMatch

http://identifiers.org/meddra/10027107

exactMatch

http://purl.obolibrary.org/obo/DOID_0060104, http://purl.obolibrary.org/obo/DOID_0050902, http://purl.obolibrary.org/obo/NCIT_C3222, https://omim.org/entry/155255, http://identifiers.org/snomedct/443333004, http://linkedlifedata.com/resource/umls/id/C0025149, http://purl.obolibrary.org/obo/Orphanet_616, http://linkedlifedata.com/resource/umls/id/C1334410, http://identifiers.org/mesh/D008527

has related synonym

cerebellar medulloblastoma, CPNET, infratentorial primitive neuroectodermal tumor, medulloblastoma, Desmoplastic, localized primitive neuroectodermal tumor, medulloblastoma with extensive nodularity, MDB, CNS PNET

id

EFO:0002939

narrowMatch

https://icd.codes/icd10cm/C71.6

see also

https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma, https://github.com/monarch-initiative/mondo/issues/4521