72262000: aangeboren defect van glutathionmetabolisme (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of glutathione metabolism

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inborn error of glutathione metabolism

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of glutathione metabolism
\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\Inborn error of glutathione metabolism

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

120065019 Inborn error of glutathione metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

812520019 Inborn error of glutathione metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6039711000146116 aangeboren defect van glutathionmetabolisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6039721000146114 aangeboren defect van glutathionmetabolisme (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6039731000146111 'inborn error' van glutathionmetabolisme nl Synonym (core metadata concept) 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
Inborn error of glutathione metabolism	Is a	Disorder of the gamma-glutamyl cycle	true	Inferred relationship	Some
Inborn error of glutathione metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Inborn error of glutathione metabolism	Occurrence	Congenital	true	Inferred relationship	Some	1
Inborn error of glutathione metabolism	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets