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 |
| 19556013 | Homocystinuria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 643881012 | Homocystinuria (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 339471000146116 | homocystinurie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 339481000146119 | homocystinurie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 9223791000146111 | Ophoping van een stof (homocystine) in het bloed, gepaard gaand met onder meer verstandelijke achterstand, oogaandoeningen, botontkalking. | nl | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Homocystinuria | Is a | Disorder of sulphur-bearing amino acid metabolism | true | Inferred relationship | Some | ||
| Homocystinuria | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Homocystinuria | Occurrence | Congenital | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Homocystinuria vitamin B12-responsive type III | Is a | True | Homocystinuria | Inferred relationship | Some | |
| Cystathionine beta-synthase deficiency (disorder) | 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 (disorder) | Is a | True | Homocystinuria | Inferred relationship | Some | |
| Dystonia due to homocystinuria (disorder) | Due to | True | Homocystinuria | Inferred relationship | Some | 3 |
Reference Sets
Dutch pathology simple reference set (foundation metadata concept)
FHIR