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 |
| 142765013 | Inborn error of metabolism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 828286015 | Inborn error of metabolism (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 1235095013 | IBEM - Inborn error of metabolism | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 1235096014 | IEM - Inborn error of metabolism | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Inborn error of metabolism | Is a | Hereditary disease | true | Inferred relationship | Some | ||
| Inborn error of metabolism | Is a | Congenital disease | true | Inferred relationship | Some | ||
| Inborn error of metabolism | Is a | Metabolic disease | true | Inferred relationship | Some | ||
| Inborn error of metabolism | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Inherited disorder of bilirubin metabolism | Is a | True | Inborn error of metabolism | Inferred relationship | Some | |
| Familial lipoprotein deficiency | Is a | True | Inborn error of metabolism | Inferred relationship | Some | |
| Primary hyperoxaluria | Is a | True | Inborn error of metabolism | Inferred relationship | Some | |
| Phenylketonuria | Is a | True | Inborn error of metabolism | Inferred relationship | Some | |
| Disorder of glycoprotein metabolism | Is a | True | Inborn error of metabolism | Inferred relationship | Some |
This concept is not in any reference sets
FHIR