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\Organic acid metabolism disorder\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
198204019	Succinic semialdehyde dehydrogenase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3781254017	4-Hydroxybutyric aciduria	en	Synonym	Active	Case sensitive	SNOMED CT core
495489014	4--Hydroxybutyric aciduria	en	Synonym	Inactive	Case sensitive	SNOMED CT core
495490017	Gamma-hydroxybutyric acidaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
495491018	Gamma-hydroxybutyric acidemia	en	Synonym	Active	Case insensitive	SNOMED CT core
787460015	Succinate-semialdehyde dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
82857019	Succinate-semialdehyde dehydrogenase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
82858012	GABAuria	en	Synonym	Active	Case sensitive	SNOMED CT core
82859016	gamma-Hydroxybutyric aciduria	en	Synonym	Active	Case sensitive	SNOMED CT core
82860014	GABA metabolic defect	en	Synonym	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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