Charcot-Marie-Tooth Disease Type 1B

Preferred Label : Charcot-Marie-Tooth Disease Type 1B;

NCIt definition : Charcot-Marie-Tooth disease caused by mutations in the MPZ gene (mapped to chromosome 1q23.3). It results in sensorineural peripheral neuropathy.;

Details

Origin ID

C118782;

UMLS CUI

C0270912;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 1B [ORDO Disease]
- Charcot-Marie-Tooth disease type 1B [DO Concept]
- Charcot-Marie-Tooth disease type 1B [ICD-11 More detail]
- Charcot-Marie-Tooth disease, type IB (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type ib [MeSH concept]
- Charcot-marie-tooth disease, demyelinating, type 1b [OMIM Phenotype]
- charcot-marie-tooth disease, type ib [SNOMED Notion]
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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 1B [ORDO Disease]
- Charcot-Marie-Tooth disease type 1B [DO Concept]
- Charcot-Marie-Tooth disease, type IB (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type ib [MeSH concept]
- Charcot-marie-tooth disease, demyelinating, type 1b [OMIM Phenotype]
- charcot-marie-tooth disease, type ib [SNOMED Notion]
Validated automatic mappings to NTBT
- charcot-marie-tooth disease [MeSH Descriptor]
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
- MPZ Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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