Developmental and Epileptic Encephalopathy 13

Preferred Label : Developmental and Epileptic Encephalopathy 13;

NCIt synonyms : Encephalopathy, Early Infantile, 13; DEE13; EIEE13;

NCIt definition : An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the SCN8A gene, encoding sodium channel protein type 8 subunit alpha.;

Details

Origin ID

C188139;

UMLS CUI

C3281191;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 13 [OMIM Phenotype]
- Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) [SNOMED CT concept]
- developmental and epileptic encephalopathy 13 [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)
- Developmental and epileptic encephalopathy 13 [OMIM Phenotype]
- Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) [SNOMED CT 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
- SCN8A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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