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 |
| 13604681000146110 | ernstige gecombineerde immunodeficiëntie door coronine-1A-deficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13604691000146112 | ernstige gecombineerde immunodeficiëntie door coronine-1A-deficiëntie (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13604701000146112 | SCID door CORO1A-deficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5065855017 | A rare monogenic primary immunodeficiency disorder with characteristics of lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. Caused by caused by homozygous or compound heterozygous mutation in the CORO1A gene on chromosome 16p11. | 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 |
This concept is not in any reference sets
FHIR