Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 19556013 | Homocystinuria | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 19557016 | Homocystinuria, NOS | en | Synonym | Inactive | Initial character case insensitive | SNOMED CT core |
| 643881012 | Homocystinuria (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Homocystinuria | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Homocystinuria | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Homocystinuria | Is a | Disorder of sulfur-bearing amino acid metabolism | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Dystonia due to homocystinuria | Due to | True | Homocystinuria | Inferred relationship | Some | 3 |
| Homocystinuria vitamin B12-responsive type III | Is a | True | Homocystinuria | Inferred relationship | Some | |
| Cystathionine beta-synthase deficiency | Is a | False | Homocystinuria | Inferred relationship | Some | |
| Methylene THF reductase deficiency AND homocystinuria | Is a | True | Homocystinuria | Inferred relationship | Some | |
| Inherited methylmalonic acidaemia AND homocystinuria | Is a | True | Homocystinuria | Inferred relationship | Some | |
| Homocystinuria without methylmalonic aciduria | Is a | True | Homocystinuria | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR