OMOP Concept 36675122
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
StandardConditionSNOMED771448004Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2019
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency across source vocabularies.
- Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder)
- síndrome de autismo-epilepsia por deficiencia de deshidrogenasa cinasa de cetoácidos de cadena ramificada
- síndrome de autismo-epilepsia por deficiencia de deshidrogenasa quinasa de cetoácidos de cadena ramificada
- síndrome de autismo-epilepsia por deficiencia de deshidrogenasa quinasa de cetoácidos de cadena ramificada (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(47)Roll up to these when you need a wider cohort.
- 1Abnormal nervous system function
- 1Autistic disorder of childhood onset
- 1Autosomal recessive hereditary disorder
- 1Developmental hereditary disorder
- 1Disorder of branched-chain amino acid metabolism
- 1Epilepsy
- 1Genetic intellectual disability
- 1Hereditary disorder of nervous system
- 2Autism spectrum disorder
- 2Autosomal hereditary disorder
- 2Developmental disorder
- 2Disorder of amino acid and organic acid metabolism
- 2Disorder of nervous system
- 2Functional finding
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Intellectual disability
- 2Mental disorder in childhood
- 2Neurological finding
- 2OMOP Seizure 1
- 2Seizure disorder
- 3Abnormal behavior
- 3Clinical finding
- 3Developmental mental disorder
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