Neurofibromatosis Type 2

Preferred Label : Neurofibromatosis Type 2;

NCIt synonyms : Central Neurofibromatosis; Neurofibromatosis 2; Bilateral Acoustic Neurofibromatosis;

NCIt related terms : NF2; acoustic neurofibromatosis;

NCIt definition : An autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene. It is characterized by the development of peripheral and central nervous system tumors including acoustic schwannomas, neurofibromas, gliomas, and meningiomas.;

Alternative definition : NCI-GLOSS: A genetic condition in which tumors form on the nerves of the inner ear and cause loss of hearing and balance. Tumors may also occur in the brain and on nerves in the skull and spinal cord, and may cause loss of speech, eye movement, and the ability to swallow.;

Codes from synonyms : CDR0000256540; CDR0000533840; CDR0000256542;

Details

Origin ID

C3274;

UMLS CUI

C0027832;

Automatic exact mappings (from CISMeF team)
- NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [ORDO Gene]
- NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [HGNC gene]
- Neurofibromin 2 [OMIM gene]
- neurofibromatosis [DO Concept]
- neurofibromatosis 2 [DO Concept]
Currated CISMeF NLP mapping
- Full NF2-related schwannomatosis [ORDO Disease]
- Neurofibromatosis II [PASCAL descriptor]
- 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 2 [MeSH Descriptor]
- neurofibromatosis 2 [MeSH concept]
- neurofibromatosis type 2 [Disease (Nov.)]
- neurofibromatosis type 2 [Radlex concept]
- neurofibromatosis, type 2 [SNOMED Notion]
DO Cross reference
- neurofibromatosis 2 [DO Concept]
Disease may have findings
- Cerebral Calcification [NCIt concept]
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 [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 2 [MeSH concept]
- neurofibromatosis 2 [MeSH Descriptor]
- neurofibromatosis type 2 [Radlex concept]
- neurofibromatosis type 2 [Disease (Nov.)]
- neurofibromatosis, type 2 [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Merlin [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Neoplasms Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
disease_has_associated_disease
- Vestibular Schwannoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- NF2 Gene Inactivation [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 22 [NCIt concept]
disease_mapped_to_gene
- NF2 Gene [NCIt concept]
disease_may_have_associated_disease
- Glioma [NCIt concept]
- Meningioangiomatosis [NCIt concept]
- Meningioma [NCIt concept]
- Neurofibroma [NCIt concept]
- Spinal Cord Ependymoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- NF2 Gene [NCIt concept]
- NF2 wt Allele [NCIt concept]
related_to_genetic_biomarker
- NF2 Gene [NCIt concept]

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