39112005: Glutathione synthase deficiency with 5-oxoprolinuria (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Glutathione synthase deficiency with 5-oxoprolinuria
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutathione synthase deficiency with 5-oxoprolinuria
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glutathione synthase deficiency with 5-oxoprolinuria
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the gamma-glutamyl cycle\Glutathione synthase deficiency with 5-oxoprolinuria
• \Metabolic disease\Enzymopathy\Glutathione synthase deficiency with 5-oxoprolinuria
• \Congenital disease\Inborn error of metabolism\Glutathione synthase deficiency with 5-oxoprolinuria

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1216587016	Pyroglutamic acidaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
1218078012	Pyroglutamic acidemia	en	Synonym	Active	Case insensitive	SNOMED CT core
65614010	Glutathione synthase deficiency with 5-oxoprolinuria	en	Synonym	Active	Case insensitive	SNOMED CT core
65615011	5-Oxoprolinuria	en	Synonym	Active	Case sensitive	SNOMED CT core
65616012	Pyroglutamic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
775506019	Glutathione synthase deficiency with 5-oxoprolinuria (disorder)	en	Fully specified name	Active	Case insensitive	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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