26132002: deficiëntie van 5-oxoprolinase (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\5-Oxoprolinase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\5-Oxoprolinase deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\5-Oxoprolinase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\5-Oxoprolinase 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\5-Oxoprolinase deficiency
\Metabolic disease\Enzymopathy\5-Oxoprolinase 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

43785019 5-Oxoprolinase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

43786018 Pyroglutamate hydrolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

756529016 5-Oxoprolinase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5898761000146117 5-oxoprolinasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6096651000146112 deficiëntie van 5-oxoprolinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8636251000146119 deficiëntie van 5-oxoprolinase (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
5-Oxoprolinase deficiency	Is a	Disorder of the gamma-glutamyl cycle	true	Inferred relationship	Some
5-Oxoprolinase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
5-Oxoprolinase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
5-Oxoprolinase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
5-Oxoprolinase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
5-Oxoprolinase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships

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Characteristic

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This concept is not in any reference sets