Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5415181016 | Autosomal recessive combined immunodeficiency due to paired box 1 mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5415182011 | Autosomal recessive combined immunodeficiency due to PAX1 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5415183018 | Autosomal recessive combined immunodeficiency due to PAX1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5415184012 | Autosomal recessive combined immunodeficiency due to paired box 1 mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive combined immunodeficiency due to paired box 1 mutation (disorder) | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency due to paired box 1 mutation (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency due to paired box 1 mutation (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR