Paramyotonia Congenita

Preferred Label : Paramyotonia Congenita;

NCIt synonyms : PMC; Paramyotonia Congenita of von Eulenburg;

NCIt definition : An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is characterized by muscle stiffness, which is increased by exposure to cold or activity, and usually eases when the patient warms up through physical activity.;

Details

Origin ID

C122790;

UMLS CUI

C0221055;

Automatic exact mappings (from CISMeF team)
- Microunit (qualifier value) [SNOMED CT concept]
- Pseudomembranous colitis [ICD-11 More detail]
- myotonic disorders [MeSH Descriptor]
- pmc [EDAM format]
Currated CISMeF NLP mapping
- Congenital paramyotonia [PASCAL descriptor]
- Paramyotonia congenita [OMIM Phenotype]
- Paramyotonia congenita [ICD-11 Subcategory]
- Paramyotonia congenita (disorder) [SNOMED CT concept]
- Paramyotonia congenita of Von Eulenburg [ORDO Disease]
- paramyotonia congenita [SNOMED Notion]
- paramyotonia congenita [MeSH concept]
- paramyotonia congenita of Von Eulenburg [DO Concept]
DO Cross reference
- myotonic dystrophy type 2 [DO Concept]
- paramyotonia congenita of Von Eulenburg [DO Concept]
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)
- Congenital paramyotonia [PASCAL descriptor]
- Paramyotonia congenita [OMIM Phenotype]
- Paramyotonia congenita [MedDRA Preferred Term]
- Paramyotonia congenita (disorder) [SNOMED CT concept]
- Paramyotonia congenita of Von Eulenburg [ORDO Disease]
- paramyotonia congenita [SNOMED Notion]
- paramyotonia congenita [MeSH concept]
- paramyotonia congenita of Von Eulenburg [DO 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