Familial Periodic Paralysis

Preferred Label : Familial Periodic Paralysis;

NCIt definition : A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.;

Détails

Origin ID

C84709;

UMLS CUI

C0030443;

Automatic exact mappings (from CISMeF team)
- Familial periodic paralysis [PASCAL descriptor]
- familial periodic paralysis [DO Concept]
Currated CISMeF NLP mapping
- Familial periodic paralysis [MedDRA Preferred Term]
- Familial periodic paralysis (disorder) [SNOMED CT concept]
- Periodic paralysis [ORDO Disease]
- Periodic paralysis [ICD-10 Sub-category]
- familial periodic paralyses [Disease (Nov.)]
- familial periodic paralysis, nos [SNOMED Notion]
- hypokalemic periodic paralysis [DO Concept]
- paralyses, familial periodic [MeSH Descriptor]
- paralyses, familial periodic [MeSH concept]
DO Cross reference
- familial periodic paralysis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial periodic paralysis [MedDRA Preferred Term]
- Familial periodic paralysis (disorder) [SNOMED CT concept]
- Paralysis periodic [MedDRA LLT]
- familial periodic paralyses [Disease (Nov.)]
- familial periodic paralysis [DO Concept]
- familial periodic paralysis, nos [SNOMED Notion]
- paralyses, familial periodic [MeSH Descriptor]
- paralyses, familial periodic [MeSH concept]
Validated automatic mappings to BTNT
- hypokalemic periodic paralysis [Disease (Nov.)]
disease_has_finding
- Rare Lesion [NCIt concept]

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