Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3757116010 | Recurrent Neisseria infection due to factor D deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3757117018 | Recurrent Neisseria infection due to factor D deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3757118011 | A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicaemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757119015 | A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408411014 | Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408412019 | Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterised by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicaemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Recurrent Neisseria infection due to factor D deficiency | Is a | Complement regulatory factor defect | true | Inferred relationship | Some | ||
| Recurrent Neisseria infection due to factor D deficiency | Is a | Disease caused by Neisseria | false | Inferred relationship | Some | ||
| Recurrent Neisseria infection due to factor D deficiency | Causative agent | Neisseria | true | Inferred relationship | Some | 1 | |
| Recurrent Neisseria infection due to factor D deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Recurrent Neisseria infection due to factor D deficiency | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Recurrent Neisseria infection due to factor D deficiency | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 2 | |
| Recurrent Neisseria infection due to factor D deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 | |
| Recurrent Neisseria infection due to factor D deficiency | Is a | Recurrent bacterial infection (disorder) | false | Inferred relationship | Some | ||
| Recurrent Neisseria infection due to factor D deficiency | Is a | Chronic disease of immune structure (disorder) | false | Inferred relationship | Some | ||
| Recurrent Neisseria infection due to factor D deficiency | Pathological process (attribute) | Infectious process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Recurrent Neisseria infection due to factor D deficiency | Is a | Chronic disease of immune function (disorder) | false | Inferred relationship | Some | ||
| Recurrent Neisseria infection due to factor D deficiency | Clinical course | Recurrent | true | Inferred relationship | Some | 3 | |
| Recurrent Neisseria infection due to factor D deficiency | Due to | Factor D deficiency | true | Inferred relationship | Some | 4 | |
| Recurrent Neisseria infection due to factor D deficiency | Is a | Recurrent infection caused by Neisseria (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR