Episodic Ataxia, Type 2

Preferred Label : Episodic Ataxia, Type 2;

MeSH synonym : acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia; nystagmus-associated episodic ataxia; cerebellar ataxia, paroxysmal, acetazolamide-responsive; cerebellopathy, hereditary paroxysmal; episodic ataxia type 2; acetazolamide-responsive episodic ataxia syndrome; ataxia, familial, paroxysmal; episodic ataxia, Nystagmus-Associated; Acetazolamide-Responsive hereditary paroxysmal cerebellar ataxia; ataxia, episodic, with nystagmus; ataxia, familial paroxysmal; Episodic ataxia with nystagmus;

Détails

Origin ID

C535506;

UMLS CUI

C1720416;

Currated CISMeF NLP mapping
- Episodic ataxia type 2 (disorder) [SNOMED CT concept]
- Episodic ataxia type 2 - CACNA1A mutation [ICD-11 More detail]
- Episodic ataxia, type 2 [OMIM Phenotype]
- Familial paroxysmal ataxia [ORDO Disease]
- episodic ataxia type 2 [DO Concept]
- episodic ataxia type 2 [Disease (Nov.)]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- nystagmus, pathologic [MeSH Descriptor]
Record concept(s)
- Episodic Ataxia, Type 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic Ataxia Type 2 [NCIt concept]
- Episodic ataxia type 2 (disorder) [SNOMED CT concept]
- Episodic ataxia type 2 - CACNA1A mutation [ICD-11 More detail]
- Episodic ataxia, type 2 [OMIM Phenotype]
- Familial paroxysmal ataxia [ORDO Disease]
- episodic ataxia type 2 [DO Concept]
- episodic ataxia type 2 [Disease (Nov.)]

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