Episodic ataxia type 5 - CACNB4 mutation

Preferred Label : Episodic ataxia type 5 - CACNB4 mutation;

ICD-11 definition : Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.;

ICD-11 synonym : Episodic ataxia type 5;

Details

Origin ID

2072072482;

UMLS CUI

C1866039;

Currated CISMeF NLP mapping
- Episodic ataxia type 5 [ORDO Disease]
- Episodic ataxia type 5 (disorder) [SNOMED CT concept]
- Episodic ataxia, type 5 [OMIM Phenotype]
- episodic ataxia type 5 [DO Concept]
- episodic ataxia, type 5 [MeSH Supplementary Concept]
- episodic ataxia, type 5 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic ataxia type 5 [ORDO Disease]
- Episodic ataxia type 5 (disorder) [SNOMED CT concept]
- Episodic ataxia, type 5 [OMIM Phenotype]
- episodic ataxia type 5 [DO Concept]
- episodic ataxia, type 5 [MeSH concept]
- episodic ataxia, type 5 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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