Hyperkalemic Periodic Paralysis

Preferred Label : Hyperkalemic Periodic Paralysis;

NCIt definition : A rare, autosomal dominant inherited disorder caused by mutations in the SCN4A gene. It is characterized by occasional episodes of muscle weakness or paralysis which are usually accompanied by increased levels of potassium in the blood. In some cases, the episodes of paralysis are associated with normal blood potassium levels. Ingestion of potassium can trigger attacks in affected individuals.;

Détails

Origin ID

C123429;

UMLS CUI

C0238357;

Currated CISMeF NLP mapping
- Familial hyperkalemic periodic paralysis (disorder) [SNOMED CT concept]
- Hyperkalaemic periodic paralysis [ICD-11 Sub-sub category]
- Hyperkalaemic periodic paralysis [MedDRA LLT]
- Hyperkalemic periodic paralysis [PASCAL descriptor]
- Hyperkalemic periodic paralysis [MedDRA LLT]
- Hyperkalemic periodic paralysis [OMIM Phenotype]
- Hyperkalemic periodic paralysis [ORDO Disease]
- Hyperkalemic periodic paralysis (disorder) [Inactive SNOMED CT concept]
- Periodic hyperkalemic paralysis [HPO term]
- familial hyperkalemic periodic paralysis [SNOMED Notion]
- hyperkalemic periodic paralysis [DO Concept]
- hyperkalemic periodic paralysis [Disease (Nov.)]
- paralysis, hyperkalemic periodic [MeSH Descriptor]
- paralysis, hyperkalemic periodic [MeSH concept]
DO Cross reference
- hyperkalemic periodic paralysis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hyperkalemic periodic paralysis (disorder) [SNOMED CT concept]
- Hyperkalaemic periodic paralysis [MedDRA LLT]
- Hyperkalaemic periodic paralysis [ICD-11 Sub-sub category]
- Hyperkalemic periodic paralysis [ORDO Disease]
- Hyperkalemic periodic paralysis [PASCAL descriptor]
- Hyperkalemic periodic paralysis [OMIM Phenotype]
- Hyperkalemic periodic paralysis [MedDRA LLT]
- Hyperkalemic periodic paralysis (disorder) [Inactive SNOMED CT concept]
- Periodic hyperkalemic paralysis [HPO term]
- familial hyperkalemic periodic paralysis [SNOMED Notion]
- hyperkalemic periodic paralysis [DO Concept]
- hyperkalemic periodic paralysis [Disease (Nov.)]
- paralysis, hyperkalemic periodic [MeSH Descriptor]
- paralysis, hyperkalemic periodic [MeSH concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SCN4A Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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