Charcot-Marie-Tooth Disease Type 2E

Preferred Label : Charcot-Marie-Tooth Disease Type 2E;

NCIt synonyms : CMT2E;

NCIt definition : A form of Charcot-Marie-Tooth disease which is inherited in an autosomal dominant manner. It is caused by mutation(s) in the NEFL gene, encoding neurofilament light polypeptide. It results in peripheral axonal neuropathy.;

Details

Origin ID

C134953;

UMLS CUI

C1843225;

Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2E [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease type 2E [DO Concept]
- Charcot-Marie-Tooth disease type 2E [ICD-11 More detail]
- Charcot-Marie-Tooth disease, Type 2E [MeSH concept]
- Charcot-Marie-Tooth disease, type 2E [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, axonal, type 2e [OMIM Phenotype]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- neurofilament light chain [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2E [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 2E [MeSH concept]
- Charcot-Marie-Tooth disease, type 2E [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, axonal, type 2e [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]
disease_mapped_to_gene
- NEFL Gene [NCIt concept]

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