Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3856284017 | Blau syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3856285016 | Blau syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3856286015 | A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Blau syndrome | est un(e) (attribut) | Primary immune deficiency disorder (disorder) | true | Inferred relationship | Some | ||
| Blau syndrome | est un(e) (attribut) | Genetic disease | true | Inferred relationship | Some | ||
| Blau syndrome | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Blau syndrome | est un(e) (attribut) | affection granulomateuse | true | Inferred relationship | Some | ||
| Blau syndrome | est un(e) (attribut) | arthrite (trouble) | true | Inferred relationship | Some | ||
| Blau syndrome | morphologie associée (attribut) | Granulomatous inflammation | true | Inferred relationship | Some | 1 | |
| Blau syndrome | localisation d'une constatation (attribut) | structure articulaire | true | Inferred relationship | Some | 1 | |
| Blau syndrome | survenue (attribut) | enfance | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) | est un(e) (attribut) | True | Blau syndrome | Inferred relationship | Some | |
| Sporadic Blau syndrome (disorder) | est un(e) (attribut) | True | Blau syndrome | Inferred relationship | Some |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR