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 |
| 201251014 | Recessive hereditary disorder (autosomal) | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 201252019 | Hereditary disorder trait (autosomal) | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 201253012 | Autosomal recessive hereditary disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 828165010 | Autosomal recessive hereditary disorder (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive hereditary disorder (disorder) | Is a | Hereditary disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Alpha-1-antitrypsin deficiency | Is a | True | Autosomal recessive hereditary disorder (disorder) | Inferred relationship | Some | |
| Primary hyperoxaluria | Is a | True | Autosomal recessive hereditary disorder (disorder) | Inferred relationship | Some | |
| Phenylketonuria | Is a | True | Autosomal recessive hereditary disorder (disorder) | Inferred relationship | Some | |
| Cystic fibrosis | Is a | True | Autosomal recessive hereditary disorder (disorder) | Inferred relationship | Some | |
| Familial chylomicronemia syndrome (disorder) | Is a | True | Autosomal recessive hereditary disorder (disorder) | Inferred relationship | Some | |
| Infantile malignant osteopetrosis | Is a | True | Autosomal recessive hereditary disorder (disorder) | Inferred relationship | Some | |
| Dysequilibrium syndrome | Is a | True | Autosomal recessive hereditary disorder (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR