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 |
| 3801291000005111 | pyrrolin-5-carboxylatreductasemangel | da | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Danish module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deficiency of pyrroline-5-carboxylate reductase (disorder) | Is a | Disorder of proline AND/OR hydroxyproline metabolism | false | Inferred relationship | Some | ||
| Deficiency of pyrroline-5-carboxylate reductase (disorder) | Is a | Specific enzyme deficiency (disorder) | true | Inferred relationship | Some | ||
| Deficiency of pyrroline-5-carboxylate reductase (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Deficiency of pyrroline-5-carboxylate reductase (disorder) | Finding site | Body system structure | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. | Due to | True | Deficiency of pyrroline-5-carboxylate reductase (disorder) | Inferred relationship | Some | 1 |
| Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome | Due to | True | Deficiency of pyrroline-5-carboxylate reductase (disorder) | Inferred relationship | Some | 9 |
This concept is not in any reference sets
FHIR