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

• SNOMED CT Concept\Clinical 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

Expanded Value Set

This concept is not in any reference sets

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