78586005: deficiëntie van gammaglutamyltransferase (aandoening)

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 (disorder)\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 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

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

7544591000146117 glutathionurie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13297021000146113 gammaglutamyltransferasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13297031000146110 deficiëntie van gammaglutamyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13297041000146119 deficiëntie van gammaglutamyltransferase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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

Refinability

Group

This concept is not in any reference sets