Choreoathetosis-Spasticity, Episodic

Preferred Label : Choreoathetosis-Spasticity, Episodic;

MeSH note : mutation in GCH1;

CISMeF synonym : Choreoathetosis/Spasticity, episodic;

MeSH synonym : choreoathetosis, paroxysmal, with episodic ataxia; dystonia 9; choreoathetosis, kinesigenic, with episodic ataxia and spasticity;

Details

Origin ID

C563401;

UMLS CUI

C1832855;

Automatic exact mappings (from CISMeF team)
- Paroxysmal dystonic choreoathetosis with episodic ataxia or spasticity [ICD-11 More detail]
Currated CISMeF NLP mapping
- Dystonia 9 [OMIM Phenotype]
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity [ORDO Disease]
- Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder) [SNOMED CT concept]
- dystonia 9 [DO Concept]
MeSH term(s) associated for indexing
- dyskinesias [MeSH Descriptor]
- muscle spasticity [MeSH Descriptor]
Record concept(s)
- Choreoathetosis-Spasticity, Episodic [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia 9 [OMIM Phenotype]
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity [ORDO Disease]
- Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder) [SNOMED CT concept]
- dystonia 9 [DO Concept]

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