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\Disorder of organic acid metabolism\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, 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
65614010	Glutathione synthase deficiency with 5-oxoprolinuria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
65615011	5-Oxoprolinuria	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
65616012	Pyroglutamic aciduria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
775506019	Glutathione synthase deficiency with 5-oxoprolinuria (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1216587016	Pyroglutamic acidaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1218078012	Pyroglutamic acidemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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