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

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

\Congenital disease (disorder)\Inborn error of metabolism\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:

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

5829061000172114 déficit en gamma-glutamyltransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4424341000172111 glutathionurie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4424351000172113 deficiëntie van gamma-glutamyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4424361000172110 gamma-glutamyltransferasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

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Group

This concept is not in any reference sets