Episodic ataxia type 3 - 1q42 mutation

Preferred Label : Episodic ataxia type 3 - 1q42 mutation;

ICD-11 definition : Episodic ataxia, type 3 is characterised by episodes of generalised ataxia that are responsive to acetazolamide, vertigo, tinnitus, and interictal myokymia.;

Details

Origin ID

1614724528;

UMLS CUI

C1847839;

CISMeF manual mappings
- episodic ataxia, type 3 [MeSH concept]
Currated CISMeF NLP mapping
- Episodic ataxia type 3 [ORDO Disease]
- Episodic ataxia type 3 (disorder) [SNOMED CT concept]
- Episodic ataxia, type 3 [OMIM Phenotype]
- episodic ataxia type 3 [DO Concept]
- episodic ataxia, type 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic ataxia type 3 [ORDO Disease]
- Episodic ataxia type 3 (disorder) [SNOMED CT concept]
- Episodic ataxia, type 3 [OMIM Phenotype]
- episodic ataxia type 3 [DO Concept]
- episodic ataxia, type 3 [MeSH concept]
- episodic ataxia, type 3 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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