1222672002: 3-methylglutaconic aciduria type 9 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Severe intellectual disability\3-methylglutaconic aciduria type 9
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe intellectual disability\3-methylglutaconic aciduria type 9
• \Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Severe intellectual disability\3-methylglutaconic aciduria type 9
• \Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Severe intellectual disability\3-methylglutaconic aciduria type 9
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\3-methylglutaconic aciduria type 9
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\3-methylglutaconic aciduria type 9
• \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\3-Methylglutaconic aciduria\3-methylglutaconic aciduria type 9
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability\3-methylglutaconic aciduria type 9
• \Disease\Developmental disorder\Developmental hereditary disorder\3-methylglutaconic aciduria type 9
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\3-methylglutaconic aciduria type 9

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048445018	3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5048446017	3-methylglutaconic aciduria type 9	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5048447014	3-methylglutaconic aciduria type 9 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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