familial paroxysmal dystonia

Preferred Label : familial paroxysmal dystonia;

CISMeF synonym : Episodic Kinesigenic Dyskinesia 1;

MeSH synonym : dystonia, familial paroxysmal; paroxysmal kinesigenic choreoathetosis; Familial Paroxysmal Kinesigenic Dyskinesia; Paroxysmal Kinesigenic Dyskinesia;

MeSH hyponym : EKD1; Dystonia 10;

Details

Origin ID

C537180;

UMLS CUI

C1868682;

Automatic exact mappings (from CISMeF team)
- PRRT2 wt Allele [NCIt concept]
- Paroxysmal choreoathetosis (disorder) [SNOMED CT concept]
- Paroxysmal kinesigenic dyskinesia [ORDO Disease]
- Paroxysmal kinesigenic dyskinesia [ICD-11 More detail]
- Paroxysmal kinesigenic dyskinesia (disorder) [SNOMED CT concept]
- paroxysmal kinesigenic choreoathetosis [SNOMED Notion]
- proline rich transmembrane protein 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Episodic kinesigenic dyskinesia 1 [OMIM Phenotype]
- episodic kinesigenic dyskinesia 1 [DO Concept]
MeSH term(s) associated for indexing
- dystonia [MeSH Descriptor]
Record concept(s)
- Episodic Kinesigenic Dyskinesia 1 [MeSH concept]
- familial paroxysmal dystonia [MeSH concept]
See also inter- (CISMeF)
- Episodic Kinesigenic Dyskinesia-1 [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic kinesigenic dyskinesia 1 [OMIM Phenotype]
- Paroxysmal kinesigenic dyskinesia [ORDO Disease]
- Paroxysmal kinesigenic dyskinesia (disorder) [SNOMED CT concept]
- episodic kinesigenic dyskinesia 1 [DO Concept]
- paroxysmal kinesigenic choreoathetosis [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients