Potassium Aggravated Myotonia

Preferred Label : Potassium Aggravated Myotonia;

NCIt synonyms : PAM;

NCIt definition : A group of autosomal dominant inherited non-dystrophic myotonias caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. They are characterized by muscle stiffness, which worsens by ingestion of potassium-rich food. This group includes myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.;

Details

Origin ID

C122788;

UMLS CUI

C2931826;

Automatic exact mappings (from CISMeF team)
- Microscopic polyangiitis [ORDO Disease]
- Myc-binding protein 2 [OMIM gene]
- Peptidylglycine alpha-amidating monooxygenase [OMIM gene]
- Pralidoxime [ICD-11 Extension code]
- mean arterial pressure [MeSH concept]
- microscopic polyangiitis [MeSH Descriptor]
Currated CISMeF NLP mapping
- Myotonia permanens (disorder) [SNOMED CT concept]
- Myotonia, potassium-aggravated [OMIM Phenotype]
- Potassium aggravated myotonia [MeSH concept]
- Potassium aggravated myotonia (disorder) [SNOMED CT concept]
- Potassium-aggravated myotonia [ORDO Disease]
- Potassium-aggravated myotonia [ICD-11 More detail]
- potassium aggravated myotonia [MeSH Supplementary Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
False automatic mappings
- Primary acquired melanocytic nevus of conjunctiva (disorder) [SNOMED CT concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
See also inter- (CISMeF)
- Myotonia permanens [ICD-11 More detail]
- Myotonia permanens [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myotonia permanens (disorder) [SNOMED CT concept]
- Myotonia, potassium-aggravated [OMIM Phenotype]
- Potassium aggravated myotonia [MeSH concept]
- Potassium aggravated myotonia (disorder) [SNOMED CT concept]
- Potassium-aggravated myotonia [ORDO Disease]
- potassium aggravated myotonia [MeSH Supplementary 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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