Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 412330019 | Porphobilinogen deaminase deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 412331015 | PBGD - Porphobilinogen deaminase deficiency | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 412332010 | Uroporphyrinogen 1 synthase deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 412333017 | PBGD deficiency | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 669157015 | Porphobilinogen deaminase deficiency (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Porphobilinogen deaminase deficiency | Is a | Disorder of porphyrin metabolism | true | Inferred relationship | Some | ||
| Porphobilinogen deaminase deficiency | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Porphobilinogen deaminase deficiency | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Porphobilinogen deaminase deficiency | Is a | Disorder of porphyrin and haem metabolism | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Acute intermittent porphyria | Is a | True | Porphobilinogen deaminase deficiency | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR