Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4167012011 | Phenylketonuria due to BH4 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4167014012 | Phenylketonuria due to tetrahydrobiopterin deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4167524012 | Phenylketonuria due to tetrahydrobiopterin deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Phenylketonuria due to tetrahydrobiopterin deficiency | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Phenylketonuria due to tetrahydrobiopterin deficiency | Is a | Hyperphenylalaninemia | false | Inferred relationship | Some | ||
| Phenylketonuria due to tetrahydrobiopterin deficiency | Due to | Disorder of tetrahydrobiopterin metabolism | false | Inferred relationship | Some | 1 | |
| Phenylketonuria due to tetrahydrobiopterin deficiency | Is a | Phenylketonuria | false | Inferred relationship | Some | ||
| Phenylketonuria due to tetrahydrobiopterin deficiency | Occurrence | Congenital | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR