Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 495877016 | Protoporphyria | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 495878014 | EPP - Erythropoietic protoporphyria | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 495879018 | Haem synthase deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 788876017 | Erythropoietic protoporphyria (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 85017013 | Erythropoietic protoporphyria | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 85018015 | EPP | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 85019011 | Erythrohepatic protoporphyria | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 85020017 | Heme synthase deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 85021018 | Magnus syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Erythropoietic protoporphyria | Is a | Ferrochelatase deficiency | true | Inferred relationship | Some | ||
| Erythropoietic protoporphyria | Is a | Porphyria | false | Inferred relationship | Some | ||
| Erythropoietic protoporphyria | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Erythropoietic protoporphyria | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
| Erythropoietic protoporphyria | Is a | Congenital porphyria | true | Inferred relationship | Some | ||
| Erythropoietic protoporphyria | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Erythropoietic protoporphyria | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Erythropoietic protoporphyria due to ferrochelatase deficiency | Is a | True | Erythropoietic protoporphyria | Inferred relationship | Some | |
| Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 | Is a | True | Erythropoietic protoporphyria | Inferred relationship | Some | |
| X-linked dominant erythropoietic protoporphyria | Is a | True | Erythropoietic protoporphyria | Inferred relationship | Some | |
| Homozygous erythropoietic protoporphyria | Is a | True | Erythropoietic protoporphyria | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Australian dialect reference set
Problem/Diagnosis reference set
FHIR