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


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
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
727674010 Deficiency of pyrroline-5-carboxylate reductase (disorder) en Fully specified name Active Case insensitive SNOMED CT core


0 descendants.

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
Hyperprolinaemia type 2 Due to True Deficiency of pyrroline-5-carboxylate reductase Inferred relationship Some 1

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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