Paramyotonia Congenita without Cold Paralysis

Preferred Label : Paramyotonia Congenita without Cold Paralysis;

NCIt definition : An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene. It is characterized by muscle stiffness, which is increased by exposure to cold but does not change to flaccid paralysis with intense cooling.;

Details

Origin ID

C122794;

UMLS CUI

C1868619;

Automatic exact mappings (from CISMeF team)
- Paramyotonia congenita [OMIM Phenotype]
Currated CISMeF NLP mapping
- paramyotonia congenita without cold paralysis [MeSH 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)
- paramyotonia congenita without cold paralysis [MeSH concept]
Validated automatic mappings to NTBT
- myotonic disorders [MeSH Descriptor]
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) :

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