Charcot-Marie-Tooth Disease Type 1A

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

NCIt synonyms : Charcot Marie Tooth Disease Type 1A;

NCIt definition : Charcot-Marie-Tooth disease caused by mutations in the PMP22 gene (mapped to chromosome 17), resulting in peripheral nerve demyelination.;

Détails

Origin ID

C75468;

UMLS CUI

C0270911;

Automatic exact mappings (from CISMeF team)
- charcot-marie-tooth disease [MeSH Descriptor]
Currated CISMeF NLP mapping
- Charcot Marie Tooth disease type 1A [Disease (Nov.)]
- Charcot-Marie-Tooth disease 1 autosomal dominant due to chromosome 17 duplication [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 1A [DO Concept]
- Charcot-Marie-Tooth disease type 1A [ORDO Disease]
- Charcot-Marie-Tooth disease, type IA (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type ia [MeSH concept]
- Charcot-marie-tooth disease, demyelinating, type 1a [OMIM Phenotype]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot Marie Tooth disease type 1A [Disease (Nov.)]
- Charcot-Marie-Tooth disease 1 autosomal dominant due to chromosome 17 duplication [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 1A [ORDO Disease]
- Charcot-Marie-Tooth disease type 1A [DO Concept]
- Charcot-Marie-Tooth disease, type IA (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type ia [MeSH concept]
- Charcot-marie-tooth disease, demyelinating, type 1a [OMIM Phenotype]
- charcot-marie-tooth disease, type ia [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Peripheral Myelin Protein 22 [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_associated_gene
- PMP22 wt Allele [NCIt concept]
disease_has_primary_anatomic_site
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- PMP22 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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