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 |
| 113815013 | Hyperphenylalaninemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 501041011 | Hyperphenylalaninaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 808373019 | Hyperphenylalaninemia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 932611000052111 | hyperfenylalaninemi | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hyperphenylalaninemia | Is a | Disorder of phenylalanine metabolism | true | Inferred relationship | Some | ||
| Hyperphenylalaninemia | Is a | Aminoacidemia | true | Inferred relationship | Some | ||
| Hyperphenylalaninemia | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Hyperphenylalaninemia | Finding site | Body system structure | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| GTP cyclohydrolase I deficiency | Is a | False | Hyperphenylalaninemia | Inferred relationship | Some | |
| Transient hyperphenylalaninaemia | Is a | True | Hyperphenylalaninemia | Inferred relationship | Some | |
| Sepiapterin reductase deficiency | Is a | True | Hyperphenylalaninemia | Inferred relationship | Some | |
| Dihydropteridine reductase deficiency | Is a | False | Hyperphenylalaninemia | Inferred relationship | Some | |
| Tetrahydrobiopterin synthesis defect | Is a | True | Hyperphenylalaninemia | Inferred relationship | Some | |
| Classical phenylketonuria | Is a | False | Hyperphenylalaninemia | Inferred relationship | Some | |
| Phenylketonuria due to tetrahydrobiopterin deficiency | Is a | False | Hyperphenylalaninemia | Inferred relationship | Some | |
| Hyperphenylalanineaemia due to DNAJC12 deficiency | Is a | True | Hyperphenylalaninemia | Inferred relationship | Some | |
| Phenylketonuria | Is a | True | Hyperphenylalaninemia | Inferred relationship | Some |
This concept is not in any reference sets
FHIR