Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 113815013 | Hyperphenylalaninemia | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 501041011 | Hyperphenylalaninaemia | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 808373019 | Hyperphenylalaninemia (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hyperphenylalaninaemia | Is a | Disorder of phenylalanine metabolism | true | Inferred relationship | Some | ||
| Hyperphenylalaninaemia | Is a | Aminoacidaemia | true | Inferred relationship | Some | ||
| Hyperphenylalaninaemia | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Hyperphenylalaninaemia | Finding site | Body system structure | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Phenylketonuria due to tetrahydrobiopterin deficiency | Is a | False | Hyperphenylalaninaemia | Inferred relationship | Some | |
| Hyperphenylalanineaemia due to DNAJC12 deficiency | Is a | True | Hyperphenylalaninaemia | Inferred relationship | Some | |
| Phenylketonuria | Is a | True | Hyperphenylalaninaemia | Inferred relationship | Some | |
| GTP cyclohydrolase I deficiency | Is a | False | Hyperphenylalaninaemia | Inferred relationship | Some | |
| Transient hyperphenylalaninaemia | Is a | True | Hyperphenylalaninaemia | Inferred relationship | Some | |
| Sepiapterin reductase deficiency | Is a | True | Hyperphenylalaninaemia | Inferred relationship | Some | |
| Dihydropteridine reductase deficiency | Is a | False | Hyperphenylalaninaemia | Inferred relationship | Some | |
| Tetrahydrobiopterin synthesis defect | Is a | True | Hyperphenylalaninaemia | Inferred relationship | Some | |
| Classical phenylketonuria | Is a | False | Hyperphenylalaninaemia | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR