Childhood Absence Epilepsy

Preferred Label : Childhood Absence Epilepsy;

NCIt definition : A common generalized epilepsy syndrome occurring in children, characterized by absence seizures of short duration. The cause of the syndrome is presumed to be genetic. Genes which are associated with the condition include GABRB3, GABRG2, GABRA1, CACNA1H, and ECA1.;

NCI Metathesaurus CUI : CL509709;

Détails

Origin ID

C128189;

UMLS CUI

C4281785;

Currated CISMeF NLP mapping
- Childhood Absence Epilepsy [MeSH concept]
- Childhood absence epilepsy [ORDO Disease]
- Childhood absence epilepsy [ICD-11 Sub-sub category]
- Childhood absence epilepsy [MedDRA LLT]
- Childhood absence epilepsy (disorder) [SNOMED CT concept]
- Epilepsy, childhood absence [OMIM phenotypic series]
- childhood absence epilepsy [DO Concept]
- childhood absence epilepsy [SNOMED Notion]
- epilepsy, absence [MeSH Descriptor]
Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Childhood absence epilepsy [MedDRA LLT]
- Childhood absence epilepsy (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
related_to_genetic_biomarker
- CACNA1H Gene [NCIt concept]
- GABRA1 Gene [NCIt concept]
- GABRB3 Gene [NCIt concept]
- GABRG2 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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