Autistic disorder of childhood onset	Autosomal recessive hereditary disorder	Childhood seizure	Developmental hereditary disorder	Disorder of branched-chain amino acid metabolism	Epilepsy	Hereditary disorder of nervous system	Hereditary metabolic disease	Intellectual disability
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Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder)
	Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
	A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11.
	syndroom van autisme en epilepsie door deficiëntie van vertakteketen-ketozuurdehydrogenasekinase
	syndroom van autisme en epilepsie door tekort aan vertakteketen-ketozuurdehydrogenasekinase syndroom van autisme en epilepsie door vertakteketen-ketozuurdehydrogenasekinasedeficiëntie

Id	771448004
Status	Primitive

Finding site	Cerebrum
Occurrence	Childhood

Occurrence	Childhood
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E71.1
Rule	TRUE
Advice	ALWAYS E71.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified