Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5406629016 | Autosomal recessive combined immunodeficiency due to DNA polymerase delta 1 catalytic subunit mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5406630014 | Autosomal recessive combined immunodeficiency due to DNA polymerase delta 1 catalytic subunit mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5406631013 | Autosomal recessive combined immunodeficiency due to POLD1 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive combined immunodeficiency due to DNA polymerase delta 1 catalytic subunit mutation (disorder) | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency due to DNA polymerase delta 1 catalytic subunit mutation (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency due to DNA polymerase delta 1 catalytic subunit 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