124177001: Deficiency of pyrroline-5-carboxylate reductase (disorder)

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

\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of proline AND/OR hydroxyproline metabolism\Deficiency of pyrroline-5-carboxylate reductase

\Enzymopathy\Specific enzyme deficiency\Deficiency of pyrroline-5-carboxylate reductase

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

203666012 Deficiency of pyrroline-5-carboxylate reductase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
473038012 Hyperprolinemia type II en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
473039016 Hyperprolinaemia type II en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
473040019 Hyperprolinemia, type II en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
473041015 delta'-Pyrroline-5-carboxylate dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
473042010 Pyrroline-5-carboxylate reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
473043017 Hyperprolinaemia, type II en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
727674010 Deficiency of pyrroline-5-carboxylate reductase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of pyrroline-5-carboxylate reductase	est un(e) (attribut)	Disorder of proline AND/OR hydroxyproline metabolism	true	Inferred relationship	Some
Deficiency of pyrroline-5-carboxylate reductase	est un(e) (attribut)	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of pyrroline-5-carboxylate reductase	survenue (attribut)	congénital	false	Inferred relationship	Some
Deficiency of pyrroline-5-carboxylate reductase	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hyperprolinemia type 2 (disorder)	Due to	True	Deficiency of pyrroline-5-carboxylate reductase	Inferred relationship	Some	1

This concept is not in any reference sets