Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 293541015 | Congenital porphyria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 574553012 | Congenital porphyria (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 7055461000146112 | congenitale porfyrie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7055481000146116 | congenitale porfyrie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7621001000146113 | aangeboren porphyria | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital porphyria | Is a | Disorder of porphyrin and heme metabolism | false | Inferred relationship | Some | ||
| Congenital porphyria | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital porphyria | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Congenital porphyria | Is a | Disorder of porphyrin metabolism | false | Inferred relationship | Some | ||
| Congenital porphyria | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Congenital porphyria | Is a | Inherited disorder of porphyrin metabolism (disorder) | true | Inferred relationship | Some | ||
| Congenital porphyria | Is a | Porphyria (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Congenital erythropoietic porphyria | Is a | True | Congenital porphyria | Inferred relationship | Some | |
| Erythropoietic protoporphyria | Is a | True | Congenital porphyria | Inferred relationship | Some | |
| Porphobilinogen synthase deficiency | Is a | True | Congenital porphyria | Inferred relationship | Some | |
| X-gebonden dominante erytropoëtische protoporfyrie | Is a | False | Congenital porphyria | Inferred relationship | Some |
This concept is not in any reference sets
FHIR