Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5065852019 | Severe combined immunodeficiency due to CORO1A deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5065853012 | Severe combined immunodeficiency due to coronin 1A deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5065854018 | Severe combined immunodeficiency due to coronin 1A deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5400082017 | A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400083010 | A rare T-B+ severe combined immunodeficiency characterised by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioural dysfunction (in particular attention deficit-hyperactivity disorder). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe combined immunodeficiency due to CORO1A deficiency | Is a | Autosomal recessive severe combined immunodeficiency disease (disorder) | true | Inferred relationship | Some | ||
| Severe combined immunodeficiency due to CORO1A deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Severe combined immunodeficiency due to CORO1A deficiency | Finding site | Body system structure | false | Inferred relationship | Some | 1 | |
| Severe combined immunodeficiency due to CORO1A deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 1 | |
| Severe combined immunodeficiency due to CORO1A deficiency | Is a | T-cell negative B-cell positive severe combined immunodeficiency (disorder) | true | Inferred relationship | Some | ||
| Severe combined immunodeficiency due to CORO1A deficiency | Finding site | Body system structure | true | Inferred relationship | Some | 2 | |
| Severe combined immunodeficiency due to CORO1A deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR