49748000: Succinate-semialdehyde dehydrogenase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Succinate-semialdehyde dehydrogenase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Succinate-semialdehyde dehydrogenase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Succinate-semialdehyde dehydrogenase deficiency
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of beta and omega amino acid metabolism\Succinate-semialdehyde dehydrogenase deficiency
• \Metabolic disease\Enzymopathy\Succinate-semialdehyde dehydrogenase deficiency
• \Metabolic disease\Disorder of beta alanine, carnosine AND/OR homocarnosine metabolism\Succinate-semialdehyde dehydrogenase deficiency
• \Congenital disease\Inborn error of metabolism\Succinate-semialdehyde dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
82857019	Succinate-semialdehyde dehydrogenase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
82858012	GABAuria	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
82859016	gamma-Hydroxybutyric aciduria	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
82860014	GABA metabolic defect	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
198204019	Succinic semialdehyde dehydrogenase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
495490017	Gamma-hydroxybutyric acidaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
495491018	Gamma-hydroxybutyric acidemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
787460015	Succinate-semialdehyde dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3781254017	4-Hydroxybutyric aciduria	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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