Charcot-Marie-Tooth Disease, Type 3

Preferred Label : Charcot-Marie-Tooth Disease, Type 3;

NCIt synonyms : Hereditary Motor and Sensory Neuropathy Type III; HMSN3; Hypertrophic Neuropathy of Dejerine-Sottas; Dejerine-Sottas Neuropathy; CMT3;

NCIt definition : A demyelinating peripheral neuropathy characterized by delayed motor development.;

Details

Origin ID

C133087;

UMLS CUI

C0011195;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 3 [DO Concept]
- Dejerine-Sottas neuropathy [PASCAL descriptor]
- Dejerine-Sottas syndrome [ORDO Disease]
- Dejerine-Sottas syndrome [ICD-11 More detail]
- Déjérine-Sottas disease (disorder) [SNOMED CT concept]
- HMSN type III [MeSH concept]
- Hypertrophic neuropathy of dejerine-sottas [OMIM Phenotype]
- dejerine-sottas disease [SNOMED Notion]
- hereditary motor and sensory polyneuropathy type III [Disease (Nov.)]
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)
- Dejerine-Sottas syndrome [ORDO Disease]
- Déjérine-Sottas disease (disorder) [SNOMED CT concept]
- HMSN type III [MeSH concept]
- Hypertrophic neuropathy of dejerine-sottas [OMIM Phenotype]
- dejerine-sottas disease [SNOMED Notion]
- hereditary motor and sensory polyneuropathy type III [Disease (Nov.)]
Validated automatic mappings to NTBT
- hereditary sensory and motor neuropathy [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [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]
related_to_genetic_biomarker
- EGR2 Gene [NCIt concept]
- MPZ Gene [NCIt concept]
- PMP22 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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