Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 293081015 | Phenylketonuria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 2760235015 | Phenylketonuria (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 5067029016 | PKU - phenylketonuria | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 5067030014 | PAH (phenylalanine hydroxylase) deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 5067031013 | Phenylalanine hydroxylase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 5067032018 | Folling disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 5067033011 | Oligophrenia phenylpyruvica | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 5353661016 | PAH-gene related phenylketonuria | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 5067034017 | A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninaemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 5067035016 | A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Phenylketonuria | Is a | Disorder of acid-base balance | true | Inferred relationship | Some | ||
| Phenylketonuria | Is a | Enzymopathy | true | Inferred relationship | Some | ||
| Phenylketonuria | Is a | Autosomal recessive hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Phenylketonuria | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
| Phenylketonuria | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Classical phenylketonuria | Is a | True | Phenylketonuria | Inferred relationship | Some |
This concept is not in any reference sets
FHIR