Infantile Convulsions and Paroxysmal Choreoathetosis, Familial

Preferred Label : Infantile Convulsions and Paroxysmal Choreoathetosis, Familial;

NCIt synonyms : Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions; PKD/IC; ICCA; ICCA Syndrome;

NCIt definition : An autosomal dominant inherited disorder caused by mutation(s) in the PRRT2 gene, encoding proline-rich transmembrane protein 2. It is characterized by epileptic seizures and paroxysmal kinesigenic choreoathetosis. It shares features with episodic kinesigenic dyskinesia-1, which is an allelic disorder.;

Details

Origin ID

C126650;

UMLS CUI

C1865926;

Automatic exact mappings (from CISMeF team)
- Infantile convulsions or choreoathetosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Convulsions, familial infantile, with paroxysmal choreoathetosis [OMIM Phenotype]
- Infantile convulsion and choreoathetosis syndrome (disorder) [SNOMED CT concept]
- Infantile convulsions and choreoathetosis [ORDO Disease]
- Infantile convulsions and paroxysmal choreoathetosis, familial [MeSH concept]
- infantile convulsions and paroxysmal choreoathetosis, familial [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Convulsions, familial infantile, with paroxysmal choreoathetosis [OMIM Phenotype]
- Infantile convulsion and choreoathetosis syndrome (disorder) [SNOMED CT concept]
- Infantile convulsions and choreoathetosis [ORDO Disease]
- Infantile convulsions and paroxysmal choreoathetosis, familial [MeSH concept]
- infantile convulsions and paroxysmal choreoathetosis, familial [MeSH Supplementary Concept]
disease_mapped_to_gene
- PRRT2 Gene [NCIt concept]

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