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 |
203666012 | Deficiency of pyrroline-5-carboxylate reductase | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
473041015 | delta'-Pyrroline-5-carboxylate dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
473042010 | Pyrroline-5-carboxylate reductase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
727674010 | Deficiency of pyrroline-5-carboxylate reductase (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Deficiency of pyrroline-5-carboxylate reductase | Is a | Disorder of proline AND/OR hydroxyproline metabolism | false | 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 |
Hyperprolinemia type 2 (disorder) | Due to | True | Deficiency of pyrroline-5-carboxylate reductase | Inferred relationship | Some | 1 |
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome | Due to | True | Deficiency of pyrroline-5-carboxylate reductase | Inferred relationship | Some | 9 |
This concept is not in any reference sets