Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3304309011 | Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304310018 | Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304311019 | Severe combined immunodeficiency due to DCLRE1C deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3304312014 | Severe combined immunodeficiency due to artemis deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304313016 | Severe combined immunodeficiency Athabascan type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5401179018 | Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401180015 | Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterised by severe and recurrent infections, diarrhoea, failure to thrive, and cell sensitivity to ionising radiation. | 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 deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder) | Is a | Autosomal recessive severe combined immunodeficiency disease (disorder) | true | Inferred relationship | Some | ||
| Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder) | Finding site | Body system structure | true | Inferred relationship | Some | 1 | |
| Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder) | 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