78586005: Gamma-glutamyl transpeptidase deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Gamma-glutamyl transpeptidase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Gamma-glutamyl transpeptidase deficiency

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Gamma-glutamyl transpeptidase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Gamma-glutamyl transpeptidase deficiency
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of the gamma-glutamyl cycle (disorder)\Gamma-glutamyl transpeptidase deficiency
\Metabolic disease\Enzymopathy\Gamma-glutamyl transpeptidase deficiency

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gamma-glutamyl transpeptidase deficiency	Is a	Disorder of the gamma-glutamyl cycle (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Gamma-glutamyl transpeptidase deficiency	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Gamma-glutamyl transpeptidase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Gamma-glutamyl transpeptidase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Gamma-glutamyl transpeptidase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Gamma-glutamyl transpeptidase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1234271010	Gamma-glutamyl transpeptidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636706017	Gamma-glutamyl transpeptidase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636707014	Gamma-glutamyl transferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636708016	Glutathionuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
130406019	gamma-Glutamyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
130407011	gamma-Glutamyl transpeptidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
130408018	Glutathioninuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
130408018	Glutathioninuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
819542017	gamma-Glutamyltransferase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
819542017	gamma-Glutamyltransferase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1234271010	Gamma-glutamyl transpeptidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1234271010	Gamma-glutamyl transpeptidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636706017	Gamma-glutamyl transpeptidase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636707014	Gamma-glutamyl transferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636708016	Glutathionuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3420891001000118	Gamma-Glutamyltranspeptidase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4646791000241115	déficit en gamma-glutamyltransférase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4646791000241115	déficit en gamma-glutamyltransférase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420891001000118	Gamma-Glutamyltranspeptidase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module