Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3326412017 | Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3326413010 | Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3326414016 | Mendelian susceptibility to mycobacterial disease due to complete IFNgammaR2 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4636390016 | A genetic variant of mendelian susceptibly to mycobacterial disease with characteristics of a complete deficiency in interferon gamma receptor 2, leading to an undetectable response to interferon gamma and consequently to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. The prevalence is unknown. Only ten children have been identified to date. This disease is caused by mutations in IFNGR2 on chromosome 21q22.1-22.2 which encodes the IFN-gamma receptor signal transducing chain, essential for IFN-gamma mediated immunity. Two clinically indistinguishable forms have been reportedly defined by the presence or absence of protein expression on the cell surface. | 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 2 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 2 deficiency (disorder) | est un(e) (attribut) | Mendelian susceptibility to mycobacterial disease | true | Inferred relationship | Some | ||
| Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) | Due to | anomalie chromosomique | false | Inferred relationship | Some | 1 | |
| Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) | est un(e) (attribut) | Immunodeficiency associated with chromosomal abnormality | false | Inferred relationship | Some | ||
| Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) | est défini par la manifestation de (attribut) | Immune system finding | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR