Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 114149013 | Tetrahydrobiopterin synthesis defect | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 4570794013 | Hyperphenylalanineaemia due to BH4 (tetrahydrobiopterin) deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 4570795014 | Hyperphenylalanineaemia due to tetrahydrobiopterin deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 4570796010 | Hyperphenylalaninemia due to BH4 (tetrahydrobiopterin) deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 4570797018 | Deficiency of tetrahydrobiopterin | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 4570798011 | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 808591013 | Tetrahydrobiopterin synthesis defect (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Tetrahydrobiopterin synthesis defect | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Tetrahydrobiopterin synthesis defect | Is a | Disorder of tetrahydrobiopterin metabolism | true | Inferred relationship | Some | ||
| Tetrahydrobiopterin synthesis defect | Is a | Hyperphenylalaninaemia | true | Inferred relationship | Some | ||
| Tetrahydrobiopterin synthesis defect | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Tetrahydrobiopterin synthesis defect | Occurrence | Congenital | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Dihydropteridine reductase deficiency | Is a | True | Tetrahydrobiopterin synthesis defect | Inferred relationship | Some | |
| GTP cyclohydrolase I deficiency | Is a | True | Tetrahydrobiopterin synthesis defect | Inferred relationship | Some | |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | Is a | True | Tetrahydrobiopterin synthesis defect | Inferred relationship | Some | |
| Pterin-4-carbinolamine dehydratase deficiency | Is a | True | Tetrahydrobiopterin synthesis defect | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR