Myotonia Fluctuans

Preferred Label : Myotonia Fluctuans;

NCIt synonyms : Exercise-Induced Delayed-Onset Myotonia; MF;

NCIt definition : An autosomal dominant inherited potassium aggravated myotonia caused by mutations of the SCN4A gene. It is characterized by mild muscle stiffness that develops during rest approximately an hour after exercise and lasts for about an hour. It worsens by ingestion of potassium-rich food.;

Details

Origin ID

C122789;

UMLS CUI

C0752355;

Currated CISMeF NLP mapping
- Myotonia fluctuans [ICD-11 More detail]
- Myotonia fluctuans [ORDO Disease]
- Myotonia fluctuans (disorder) [SNOMED CT concept]
- myotonia fluctuans [MeSH concept]
DO Cross reference
- myotonic dystrophy type 2 [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
False automatic mappings
- Marfan syndrome [ORDO Disease]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
See also inter- (CISMeF)
- Myotonia, potassium-aggravated [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myotonia fluctuans [ORDO Disease]
- Myotonia fluctuans (disorder) [SNOMED CT concept]
- myotonia fluctuans [MeSH concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- SCN4A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients