771448004: Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Mental illness\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Autistic disorder\Autistic disorder of childhood onset\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Mental illness\Developmental mental disorder\Mental disorder in childhood\Autistic disorder of childhood onset\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Autistic disorder\Autistic disorder of childhood onset\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Mental disorder in childhood\Autistic disorder of childhood onset\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3706245018	Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3706246017	Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3706247014	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Mental health disorder reference set

Problem/Diagnosis reference set

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