124176005: deficiëntie van 1-pyrroline-2-carboxylaatreductase (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-2-carboxylate reductase (disorder)

\Enzymopathy\Specific enzyme deficiency\Deficiency of pyrroline-2-carboxylate reductase (disorder)

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

203665011 Deficiency of pyrroline-2-carboxylate reductase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727673016 Deficiency of pyrroline-2-carboxylate reductase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6832721000146119 deficiëntie van pyrroline-2-carboxylaatreductase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11364271000146113 deficiëntie van 1-pyrroline-2-carboxylaatreductase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11364281000146110 deficiëntie van 1-pyrroline-2-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-2-carboxylate reductase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of pyrroline-2-carboxylate reductase (disorder)	Is a	Disorder of proline AND/OR hydroxyproline metabolism	true	Inferred relationship	Some
Deficiency of pyrroline-2-carboxylate reductase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of pyrroline-2-carboxylate reductase (disorder)	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets