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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706246017	Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405124018	A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405125017	A rare disorder of branched-chain amino acid metabolism characterised by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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