Charcot-Marie-Tooth Disease Type 2A1

Preferred Label : Charcot-Marie-Tooth Disease Type 2A1;

NCIt synonyms : CMT2A1;

NCIt definition : An autosomal dominant sub-type of Charcot-Marie-Tooth disease caused by mutation(s) in the KIF1B gene, encoding kinesin-like protein KIF1B.;

NCI Metathesaurus CUI : CL552315;

Details

Origin ID

C150609;

UMLS CUI

C1861678;

Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease type 2A1 [DO Concept]
- Charcot-Marie-Tooth disease type 2A1 [ICD-11 More detail]
- Charcot-Marie-Tooth disease, axonal, type 2a1 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, axonal, type 2a1 [MeSH concept]
- Charcot-marie-tooth disease, axonal, type 2a1 [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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, axonal, type 2a1 [MeSH concept]
- Charcot-Marie-Tooth disease, axonal, type 2a1 [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, axonal, type 2a1 [OMIM Phenotype]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP 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
- KIF1B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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