26132002: 5-Oxoprolinase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\déficit en 5-oxoprolinase (trouble)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\déficit en 5-oxoprolinase (trouble)

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the gamma-glutamyl cycle\déficit en 5-oxoprolinase (trouble)
\trouble métabolique\Inborn error of metabolism\déficit en 5-oxoprolinase (trouble)
\trouble métabolique\Enzymopathy\déficit en 5-oxoprolinase (trouble)

\Congenital disease\Inborn error of metabolism\déficit en 5-oxoprolinase (trouble)

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

410281000241110 déficit en 5-oxoprolinase (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

875451000172116 déficit en 5-oxoprolinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

929341000172116 oxoprolinurie liée à un déficit en oxoprolinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
déficit en 5-oxoprolinase (trouble)	est un(e) (attribut)	Disorder of the gamma-glutamyl cycle	true	Inferred relationship	Some
déficit en 5-oxoprolinase (trouble)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
déficit en 5-oxoprolinase (trouble)	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
déficit en 5-oxoprolinase (trouble)	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
déficit en 5-oxoprolinase (trouble)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
déficit en 5-oxoprolinase (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets