Juvenile Absence Epilepsy

Preferred Label : Juvenile Absence Epilepsy;

NCIt definition : A subtype of idiopathic generalized epilepsy, whose manifestations occur around puberty, associated with mutation(s) in the EFHC1 gene, encoding EF-hand domain-containing protein 1.;

NCI Metathesaurus CUI : CL512872;

Details

Origin ID

C129868;

UMLS CUI

C4317339;

Automatic exact mappings (from CISMeF team)
- Epilepsy, juvenile absence [OMIM phenotypic series]
- Juvenile Absence Epilepsy [MeSH concept]
- Juvenile absence epilepsy [ORDO Disease]
- Juvenile absence epilepsy [ICD-11 Sub-sub category]
- Juvenile absence epilepsy [MedDRA Preferred Term]
- Juvenile absence epilepsy (disorder) [SNOMED CT concept]
- epilepsy, absence [MeSH Descriptor]
- juvenile absence epilepsy [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juvenile absence epilepsy [MedDRA Preferred Term]
- Juvenile absence epilepsy (disorder) [SNOMED CT concept]
- juvenile absence epilepsy [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- EFHC1 Gene [NCIt concept]
related_to_genetic_biomarker
- CLCN2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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