neurofibromatosis 2

Preferred Label : neurofibromatosis 2;

MeSH definition : An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.;

MeSH synonym : neurofibromatosis type ii; type 2 neurofibromatoses; neurofibromatosis iis; bilateral acoustic neurofibromatoses; neurofibromatoses, bilateral acoustic; neurofibromatosis, type ii; neurofibromatosis type 2; neurofibromatosis, acoustic, bilateral; neurofibromatosis, central nf2; central nf2 neurofibromatoses; central nf2 neurofibromatosis; neurofibromatoses, central nf2; bilateral acoustic neurofibromatosis; acoustic neurofibromatoses, bilateral; acoustic neurofibromatosis, bilateral; neurofibromatosis, bilateral acoustic; neurofibromatosis, central, nf2; neurofibromatosis, type 2; neurofibromatoses, type 2; type 2 neurofibromatosis; neurofibromatoses, type ii; type ii neurofibromatoses; type ii neurofibromatosis; nf2 (neurofibromatosis 2); nf2s (neurofibromatosis 2); neurofibromatosis ii; neurofibromatosis, central, nf 2; neurofibromatosis, central type; central neurofibromatosis; central neurofibromatoses; neurofibromatoses, central; neurofibromatosis, central;

CISMeF synonym : 2s, neurofibromatosis type; type 2, neurofibromatosis; iis, neurofibromatosis type; neurofibromatosis type iis; type ii, neurofibromatosis; neurofibromatosis type 2s; ii, neurofibromatosis; ii, neurofibromatosis type; 2 neurofibromatoses, type; 2, neurofibromatosis type; ii neurofibromatoses, type; ii neurofibromatosis, type; iis, neurofibromatosis; type 2s, neurofibromatosis; type iis, neurofibromatosis; 2 neurofibromatosis, type;

MeSH hyponym : neuroma, acoustic, bilateral; schwannoma, acoustic, bilateral; Acoustic Neurinoma, Bilateral; Acoustic Neurinomas, Bilateral; Bilateral Acoustic Neurinoma; Bilateral Acoustic Neurinomas; Neurinoma, Bilateral Acoustic; Neurinomas, Bilateral Acoustic; Acoustic Schwannomas, Bilateral; Acoustic Schwannoma, Bilateral; Bilateral Acoustic Schwannoma; Bilateral Acoustic Schwannomas; Schwannoma, Bilateral Acoustic; Schwannomas, Bilateral Acoustic;

Related MeSH term : familial acoustic neuromas; Acoustic Neuroma, Familial; Acoustic Neuromas, Familial; Familial Acoustic Neuroma; Neuroma, Familial Acoustic; Neuromas, Familial Acoustic;

MeSH annotation : do not confuse with NEUROFIBROMATOSIS 1; coord IM with precoord/neopl term (IM) if relevant;

Wikipedia link : https://en.wikipedia.org/wiki/Familial acoustic neuroma;

Details

Origin ID

D016518;

UMLS CUI

C0027832;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Neurofibromas [HPO term]
- Neurofibromatosis [PASCAL descriptor]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [NCIt concept]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [MedDRA Preferred Term]
- Neurofibromatosis [ORDO Disease]
- Neurofibromatosis (morphologic abnormality) [SNOMED CT concept]
- neurofibromatosis [Radlex concept]
- neurofibromatosis [DO Concept]
- neurofibromatosis [MedlinePlus Topic]
- neurofibromatosis 2 [DO Concept]
- neurofibromatosis, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Full NF2-related schwannomatosis [ORDO Disease]
- Neurofibromatosis II [PASCAL descriptor]
- Neurofibromatosis Type 2 [NCIt concept]
- Neurofibromatosis type 2 [ICD-11 Sub-sub category]
- Neurofibromatosis type 2 (disorder) [SNOMED CT concept]
- Neurofibromatosis, type 2 (acoustic neurofibromatosis) [MedDRA LLT]
- Neurofibromatosis, type II [OMIM Phenotype]
- neurofibromatosis type 2 [Disease (Nov.)]
- neurofibromatosis type 2 [Radlex concept]
- neurofibromatosis, type 2 [SNOMED Notion]
DO Cross reference
- neurofibromatosis 2 [DO Concept]
HPO term
- Bilateral vestibular Schwannoma [HPO term]
Manual NTBT mappings (CISMeF)
- Inherited cancer-predisposing syndrome [ORDO Disease]
- Phakomatosis with eye involvement [ORDO Disease]
- Rare nervous system tumor [ORDO Disease]
ORDO relation(s)
- Full NF2-related schwannomatosis [ORDO Disease]
Record concept(s)
- familial acoustic neuromas [MeSH concept]
- neurofibromatosis 2 [MeSH concept]
- neuroma, acoustic, bilateral [MeSH concept]
- schwannoma, acoustic, bilateral [MeSH concept]
See also
- genes, neurofibromatosis 2 [MeSH Descriptor]
- neurofibromin 2 [MeSH Descriptor]
See also inter- (CISMeF)
- Bilateral vestibular Schwannoma [HPO term]
- Neurofibromatosis, type I [OMIM Phenotype]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Full NF2-related schwannomatosis [ORDO Disease]
- Neurofibromatosis II [PASCAL descriptor]
- Neurofibromatosis Type 2 [NCIt concept]
- Neurofibromatosis type 2 [ICD-11 Sub-sub category]
- Neurofibromatosis type 2 (disorder) [SNOMED CT concept]
- Neurofibromatosis, type 2 (acoustic neurofibromatosis) [MedDRA LLT]
- Neurofibromatosis, type 2 [acoustic neurofibromatosis] [ICD-9 code]
- Neurofibromatosis, type II [OMIM Phenotype]
- neurofibromatosis 2 [DO Concept]
- neurofibromatosis type 2 [Radlex concept]
- neurofibromatosis type 2 [Disease (Nov.)]
- neurofibromatosis, type 2 [SNOMED Notion]

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