episodic ataxia, type 1

Preferred Label : episodic ataxia, type 1;

MeSH synonym : episodic ataxia with myokymia; myokymia 1 with or without hypomagnesemia; paroxysmal ataxia with neuromyotonia, hereditary; ataxia, episodic, with myokymia; myokymia with periodic ataxia;

Details

Origin ID

C563278;

UMLS CUI

C1719788;

CISMeF manual mappings
- Episodic ataxia type 1 [ORDO Disease]
Currated CISMeF NLP mapping
- Episodic ataxia type 1 (disorder) [SNOMED CT concept]
- Episodic ataxia type 1 - KCNA1 mutation [ICD-11 More detail]
- Episodic ataxia, type 1 [OMIM Phenotype]
- episodic ataxia type 1 [DO Concept]
- episodic ataxia type 1 [Disease (Nov.)]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- myokymia [MeSH Descriptor]
Record concept(s)
- episodic ataxia, type 1 [MeSH concept]
See also inter- (CISMeF)
- myokymia 1 [Disease (Nov.)]
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 - KCNA1 mutation [ICD-11 More detail]
- Episodic ataxia, type 1 [OMIM Phenotype]
- episodic ataxia type 1 [DO Concept]
- episodic ataxia type 1 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients