Congenital Epilepsy

Preferred Label : Congenital Epilepsy;

NCIt definition : A seizure disorder that is present at the time of birth.;

Origin ID

C8608;

UMLS CUI

C0854109;

Currated CISMeF NLP mapping
- Epilepsy congenital [MedDRA Preferred Term]
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)
- Epilepsy congenital [MedDRA Preferred Term]
associated_with_malfunction_of_gene_product
- Leucine-Rich Glioma-Inactivated Protein 1 [NCIt concept]
disease_has_associated_gene
- LGI1 Gene [NCIt concept]
- LGI1 wt Allele [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]