Normokalemic Periodic Paralysis

Preferred Label : Normokalemic Periodic Paralysis;

NCIt synonyms : NormoKPP;

NCIt definition : An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. Currently, it is considered a variant of hyperkalemic periodic paralysis. Patients with normokalemic periodic paralysis do not have any change in their potassium levels during weakness, but become weak when they ingest potassium.;

Details

Origin ID

C122791;

UMLS CUI

C0268445;

Automatic exact mappings (from CISMeF team)
- Normokalaemic periodic paralysis [ICD-11 More detail]
- paralyses, familial periodic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial normokalemic periodic paralysis (disorder) [SNOMED CT concept]
- Normokalemic periodic paralysis [ORDO Disease]
- Normokalemic periodic paralysis [OMIM Phenotype]
- familial normokalemic periodic paralysis [SNOMED Notion]
- normokalemic periodic paralysis [MeSH concept]
- normokalemic periodic paralysis [Disease (Nov.)]
- normokalemic periodic paralysis, Potassium-Sensitive [MeSH Supplementary Concept]
- normokalemic periodic paralysis, Potassium-Sensitive [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)
- Familial normokalemic periodic paralysis (disorder) [SNOMED CT concept]
- Normokalemic periodic paralysis [ORDO Disease]
- Normokalemic periodic paralysis [OMIM Phenotype]
- familial normokalemic periodic paralysis [SNOMED Notion]
- normokalemic periodic paralysis [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]

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