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 |
| 3304314010 | A type of severe combined immunodeficiency disease characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3304315011 | A type of severe combined immunodeficiency disease characterised by severe and recurrent infections, diarrhoea, failure to thrive, and cell sensitivity to ionising radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive. | 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 |
This concept is not in any reference sets
FHIR