Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

disorder

SNOMED 771448004CUI C4749908

Overview

Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Related Conditions

Epilepsy(parent)

Hereditary disorder of nervous system(parent)

Autistic disorder of childhood onset(parent)

Disorder of branched-chain amino acid metabolism(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 771448004
UMLS CUI: C4749908
Fully Specified Name: Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.