31881000146102: deficiëntie van pyrroline-5-carboxylaatsynthase (aandoening)

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 synthase (disorder)

\Enzymopathy\Specific enzyme deficiency\Deficiency of pyrroline-5-carboxylate synthase (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2017. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

603041000146119 Deficiency of pyrroline-5-carboxylate synthase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
603051000146116 Deficiency of pyrroline-5-carboxylate synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6861331000146115 pyrroline-5-carboxylaatsynthetasedeficiëntie nl Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6861351000146114 pyrroline-5-carboxylaatsynthasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6861361000146112 deficiëntie van pyrroline-5-carboxylaatsynthetase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9444001000146115 pyrroline-5-carboxylaatsynthetasedeficiëntie (aandoening) nl Fully specified name Inactive Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
11672201000146110 deficiëntie van pyrroline-5-carboxylaatsynthase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
11672211000146112 deficiëntie van pyrroline-5-carboxylaatsynthase nl Synonym (core metadata concept) 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 synthase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of pyrroline-5-carboxylate synthase (disorder)	Is a	Disorder of proline AND/OR hydroxyproline metabolism	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets