Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3424331011 | Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424332016 | Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424333014 | Mendelian susceptibility to mycobacterial disease due to partial IRF8 (interferon regulatory factor 8) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3424334015 | Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6191581000146119 | MSMD door partiële IRF8-deficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6191741000146118 | 'mendelian susceptibility to mycobacterial disease' door partiële IRF-8-deficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6981001000146115 | Mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële IRF-8-deficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6981011000146118 | Mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële deficiëntie van 'interferon regulatory factor 8' | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6981021000146111 | Mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële deficiëntie van 'interferon regulatory factor 8' (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3424335019 | A rare genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG). The prevalence is unknown. The first infections occur after vaccination with BCG and before the age of 2. No other infectious diseases have been reported. Caused by heterozygous mutations in the IRF8 gene on chromosome 16q24.1 which encodes IRF8, a protein essential for the development of dendritic cells and the differentiation of macrophages and granulocytes. Mutations in the IRF8 gene impair IL-12 secretion by monocytes and dendritic cells. Inherited in an autosomal dominant manner. | 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 partial interferon regulatory factor 8 deficiency (disorder) | Due to | Chromosomal disorder (disorder) | false | Inferred relationship | Some | 1 | |
| Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) | Is a | Immunodeficiency associated with chromosomal abnormality | false | Inferred relationship | Some | ||
| Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 | |
| Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 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