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 |
| 3311607013 | Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311608015 | Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311610018 | Mendelian susceptibility to mycobacterial disease due to complete IFNgammaR1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3311609011 | A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of a complete deficiency in interferon gamma receptor 1(IFN-gammaR1), leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin and other environmental mycobacteria. Infection is disseminated and can involve soft tissue, bone marrow, lungs, skin, bones and lymph nodes. Manifestations include fever, weight loss, hepatosplenomegaly, lymphadenopathies and lepromatous-like lesions. Caused by complete IFN-gammaR1 deficiency due to mutations in the IFNGR1 gene on chromosome 6q23-q24. 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 |
| Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) | Due to | Chromosomal disorder (disorder) | false | Inferred relationship | Some | 1 | |
| Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) | Is a | Immunodeficiency associated with chromosomal abnormality | false | Inferred relationship | Some | ||
| Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 | |
| Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) | Is a | Mendelian susceptibility to mycobacterial disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR