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

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

\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

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

727674010 Deficiency of pyrroline-5-carboxylate reductase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5796491000172112 déficit en pyrroline-5-carboxylate reductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4375201000172110 deficiëntie van pyrroline-5-carboxylaatreductase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4375211000172113 tekort aan pyrroline-5-carboxylaatreductase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4375221000172115 pyrroline-5-carboxylaatreductasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian 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	true	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

This concept is not in any reference sets