Episodic ataxia type 1 - KCNA1 mutation

Preferred Label : Episodic ataxia type 1 - KCNA1 mutation;

ICD-11 definition : Episodic ataxia type 1 is a frequent form of hereditary episodic ataxia, characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.;

ICD-11 synonym : Episodic ataxia type 1;

Details

Origin ID

2135559917;

UMLS CUI

C1719788;

Currated CISMeF NLP mapping
- Episodic ataxia type 1 [ORDO Disease]
- Episodic ataxia type 1 (disorder) [SNOMED CT concept]
- Episodic ataxia, type 1 [OMIM Phenotype]
- episodic ataxia type 1 [DO Concept]
- episodic ataxia type 1 [Disease (Nov.)]
- episodic ataxia, type 1 [MeSH concept]
- episodic ataxia, type 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic ataxia type 1 [ORDO Disease]
- Episodic ataxia type 1 (disorder) [SNOMED CT concept]
- Episodic ataxia, type 1 [OMIM Phenotype]
- episodic ataxia type 1 [DO Concept]
- episodic ataxia type 1 [Disease (Nov.)]
- episodic ataxia, type 1 [MeSH concept]
- episodic ataxia, type 1 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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