1222672002: 3-methylglutaconic aciduria type 9 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\...
• \Genetic intellectual disability\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Severe intellectual disability (disorder)\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Severe intellectual disability (disorder)\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Severe intellectual disability (disorder)\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Functional finding\Intelligence finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Functional finding\Intelligence finding (finding)\Intellectual ability - finding\Intellectual disability\Severe intellectual disability (disorder)\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Disease\Genetic disease\Genetic intellectual disability\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\3-Methylglutaconic aciduria (disorder)\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\Genetic intellectual disability\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\Severe intellectual disability (disorder)\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5400004018	A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400005017	A rare organic aciduria characterised by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behaviour, optic atrophy, or spasticity. Brain imaging may show generalised cerebral atrophy and white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048445018	3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048446017	3-methylglutaconic aciduria type 9	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048447014	3-methylglutaconic aciduria type 9 (disorder)	en	Fully specified name	Active	Entire term case insensitive (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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