Charcot-Marie-Tooth Disease, Spinal, Type I

Preferred Label : Charcot-Marie-Tooth Disease, Spinal, Type I;

NCIt synonyms : DHMN1; Distal Hereditary Motor Neuronopathy Type I; HMN1; Distal HMN I; Spinal CMT I;

NCIt definition : An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.;

Details

Origin ID

C132826;

UMLS CUI

C1866784;

Automatic exact mappings (from CISMeF team)
- charcot-marie-tooth disease [MeSH Descriptor]
Currated CISMeF NLP mapping
- Distal hereditary motor neuropathy type 1 [ORDO Disease]
- Distal hereditary motor neuropathy type 1 [ICD-11 More detail]
- Distal hereditary motor neuropathy type 1 (disorder) [SNOMED CT concept]
- Neuronopathy, distal hereditary motor, autosomal dominant 1 [OMIM Phenotype]
- distal hereditary motor neuronopathy type 1 [DO Concept]
- neuronopathy, distal hereditary motor, type I [MeSH Supplementary Concept]
- neuronopathy, distal hereditary motor, type I [MeSH concept]
DO Cross reference
- distal hereditary motor neuronopathy type 1 [DO Concept]
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)
- Distal hereditary motor neuropathy type 1 [ORDO Disease]
- Distal hereditary motor neuropathy type 1 (disorder) [SNOMED CT concept]
- Neuronopathy, distal hereditary motor, autosomal dominant 1 [OMIM Phenotype]
- distal hereditary motor neuronopathy type 1 [DO Concept]
- neuronopathy, distal hereditary motor, type I [MeSH Supplementary Concept]
- neuronopathy, distal hereditary motor, type I [MeSH concept]
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]
disease_mapped_to_chromosome
- Human Chromosome 7 [NCIt concept]

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