Non-Dystrophic Myotonia

Preferred Label : Non-Dystrophic Myotonia;

NCIt synonyms : Non Dystrophic Myotonia;

NCIt definition : A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness.;

Details

Origin ID

C122787;

UMLS CUI

C1828221;

Currated CISMeF NLP mapping
- Non dystrophic myotonia (disorder) [SNOMED CT concept]
- Non-dystrophic myopathy [ORDO Disease]
- Nondystrophic myotonia [MeSH concept]
- nondystrophic myotonia [MeSH Supplementary Concept]
- nondystrophic myotonia [Disease (Nov.)]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Non dystrophic myotonia (disorder) [SNOMED CT concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]

Keyword's position in hierarchy(ies) :

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