124177001: deficiëntie van pyrroline-5-carboxylaatreductase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\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
6895051000146110 deficiëntie van pyrroline-5-carboxylaatreductase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6895071000146119 pyrroline-5-carboxylaatreductasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7152551000146111 tekort aan pyrroline-5-carboxylaatreductase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9128021000146117 deficiëntie van pyrroline-5-carboxylaatreductase (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
Deficiency of pyrroline-5-carboxylate reductase	Is a	Disorder of proline AND/OR hydroxyproline metabolism	false	Inferred relationship	Some
Deficiency of pyrroline-5-carboxylate reductase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of pyrroline-5-carboxylate reductase	Occurrence	Congenital	false	Inferred relationship	Some
Deficiency of pyrroline-5-carboxylate reductase	Finding site	Body system structure	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
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome	Due to	True	Deficiency of pyrroline-5-carboxylate reductase	Inferred relationship	Some	9

This concept is not in any reference sets