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

• SNOMED CT Concept\Clinical finding\Disease\Metabolic disease\...
• \Organic acid metabolism disorder\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, Primitive. 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	Active	Case insensitive	SNOMED CT core
473038012	Hyperprolinemia type II	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
473039016	Hyperprolinaemia type II	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
473040019	Hyperprolinemia, type II	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
473041015	delta'-Pyrroline-5-carboxylate dehydrogenase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
473042010	Pyrroline-5-carboxylate reductase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
473043017	Hyperprolinaemia, type II	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
727674010	Deficiency of pyrroline-5-carboxylate reductase (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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