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

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary 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\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\Inborn error of metabolism\Glutathione synthase deficiency with 5-oxoprolinuria
\Metabolic disease\Enzymopathy\Glutathione synthase deficiency with 5-oxoprolinuria

\Congenital disease (disorder)\Inborn error of metabolism\Glutathione synthase deficiency with 5-oxoprolinuria

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

Descriptions:

Id Description Lang Type Status Case? Module

65614010 Glutathione synthase deficiency with 5-oxoprolinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

65615011 5-Oxoprolinuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

65616012 Pyroglutamic aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

775506019 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1216587016 Pyroglutamic acidaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1218078012 Pyroglutamic acidemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

844031000052111 glutationsyntasbrist med 5-oxoprolinuri sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glutathione synthase deficiency with 5-oxoprolinuria	Is a	Disorder of the gamma-glutamyl cycle	true	Inferred relationship	Some
Glutathione synthase deficiency with 5-oxoprolinuria	Is a	Enzymopathy	true	Inferred relationship	Some
Glutathione synthase deficiency with 5-oxoprolinuria	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Glutathione synthase deficiency with 5-oxoprolinuria	Finding site	Body system structure	false	Inferred relationship	Some
Glutathione synthase deficiency with 5-oxoprolinuria	Occurrence	Congenital	true	Inferred relationship	Some	1
Glutathione synthase deficiency with 5-oxoprolinuria	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets