| 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 |
SNOMEDCT_US_2023_03_01:92503002 |
| 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 |