Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 114149013 | Tetrahydrobiopterin synthesis defect | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 114150013 | Tetrahydrobiopterin synthesis defect, NOS | en | Synonym | Inactive | Only initial character case insensitive | SNOMED CT core module |
| 114151012 | Hyperphenylalaninemia, type V | en | Synonym | Inactive | Only initial character case insensitive | SNOMED CT core module |
| 501082011 | Hyperphenylalaninaemia, type V | en | Synonym | Inactive | Only initial character case insensitive | SNOMED CT core module |
| 808591013 | Tetrahydrobiopterin synthesis defect (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 4570794013 | Hyperphenylalanineaemia due to BH4 (tetrahydrobiopterin) deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 4570795014 | Hyperphenylalanineaemia due to tetrahydrobiopterin deficiency | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 4570796010 | Hyperphenylalaninemia due to BH4 (tetrahydrobiopterin) deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 4570797018 | Deficiency of tetrahydrobiopterin | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 4570798011 | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Tetrahydrobiopterin synthesis defect | Is a | Disorder of tetrahydrobiopterin metabolism | true | Inferred relationship | Existential restriction modifier | ||
| Tetrahydrobiopterin synthesis defect | Is a | Hyperphenylalaninemia | true | Inferred relationship | Existential restriction modifier | ||
| Tetrahydrobiopterin synthesis defect | Finding site | Body system structure | false | Inferred relationship | Existential restriction modifier | ||
| Tetrahydrobiopterin synthesis defect | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | ||
| Tetrahydrobiopterin synthesis defect | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | Is a | True | Tetrahydrobiopterin synthesis defect | Inferred relationship | Existential restriction modifier | |
| Pterin-4-carbinolamine dehydratase deficiency | Is a | True | Tetrahydrobiopterin synthesis defect | Inferred relationship | Existential restriction modifier | |
| Dihydropteridine reductase deficiency | Is a | True | Tetrahydrobiopterin synthesis defect | Inferred relationship | Existential restriction modifier | |
| Guanosine triphosphate cyclohydrolase I deficiency | Is a | True | Tetrahydrobiopterin synthesis defect | Inferred relationship | Existential restriction modifier |
This concept is not in any reference sets
FHIR