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Metadata
ID DOID:0111252
Name vestibular schwannomatosis
Definition A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.
https://pubmed.ncbi.nlm.nih.gov/35674741/
Xrefs

GARD:7193

ICD10CM:Q85.02

ICD9CM:237.72

MESH:D016518

NCI:C3274

OMIM:101000

ORDO:637

SNOMEDCT_US_2023_03_01:92503002

UMLS_CUI:C0027832

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

ACN [EXACT]

acoustic neurofibromatosis [EXACT]

BANF [EXACT]

bilateral acoustic neurinoma [EXACT]

bilateral acoustic neurofibromatosis [EXACT]

bilateral acoustic schwannomas [EXACT]

central neurofibromatosis [EXACT]

familial acoustic neuromas [EXACT]

neurofibromatosis 2 [EXACT]

neurofibromatosis type II [EXACT]

NF2 [EXACT]

NF2-related schwannomatosis [EXACT]

schwannomatosis 3 [EXACT]

SWN3 [EXACT]

SWNV [EXACT]

Parent Relationships

is_a schwannomatosis

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