Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Jun 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 293081015 | Phenylketonuria | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 2760235015 | Phenylketonuria (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 5067029016 | PKU - phenylketonuria | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5067030014 | PAH (phenylalanine hydroxylase) deficiency | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5067031013 | Phenylalanine hydroxylase deficiency | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 5067032018 | Folling disease | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5067033011 | Oligophrenia phenylpyruvica | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Phenylketonuria | Is a | Inborn error of metabolism | true | Inferred relationship | Existential restriction modifier | ||
| Phenylketonuria | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Phenylketonuria | Is a | Hyperphenylalaninemia | true | Inferred relationship | Existential restriction modifier | ||
| Phenylketonuria | Is a | Enzymopathy | true | Inferred relationship | Existential restriction modifier | ||
| Phenylketonuria | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Classical phenylketonuria | Is a | True | Phenylketonuria | Inferred relationship | Existential restriction modifier | |
| Phenylketonuria due to tetrahydrobiopterin deficiency | Is a | True | Phenylketonuria | Inferred relationship | Existential restriction modifier |
This concept is not in any reference sets
FHIR