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

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior 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\Disorder of brain\Seizure disorder\Epilepsy\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\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\Disorder of brain\Seizure disorder\Epilepsy\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

\Disorder of head\Disorder of brain\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\Finding of intellectual ability\Intellectual disability\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
\Functional finding\Intelligence finding\Finding of intellectual ability\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\Disorder of nervous system\Hereditary disorder of nervous system\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
\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
\Disease\Mental 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\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
\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

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 SNOMED CT core module

3706246017 Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Is a	Epilepsy	true	Inferred relationship	Existential restriction modifier
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Is a	Childhood seizure	false	Inferred relationship	Existential restriction modifier
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Is a	Autistic disorder of childhood onset	true	Inferred relationship	Existential restriction modifier
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Is a	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Existential restriction modifier
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Occurrence	Childhood	true	Inferred relationship	Existential restriction modifier	1
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	1
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Occurrence	Childhood	true	Inferred relationship	Existential restriction modifier	2
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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	SNOMED CT core module
3706246017	Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module