Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5168746010 | Birt Hogg Dubé syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5168747018 | Hornstein Knickenberg syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5168748011 | Birt Hogg Dubé syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5168749015 | Fibrofolliculomas with trichodiscomas and acrochordons | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5168750015 | A rare inherited cancer-predisposing syndrome characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. The kidney tumors range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell or papillary subtypes. Fibrofolliculomas are characterized by a circumscribed proliferation of collagen and fibroblasts surrounding distorted hair follicles from which basaloid cells protrude into the surrounding fibromucinous stroma. Other characteristic skin anomalies are trichodiscomas and acrochordons. Dermatological manifestations usually develop in the third and fourth decades of life and persist indefinitely. The syndrome is transmitted in an autosomal dominant fashion. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5168751016 | A rare inherited cancer-predisposing syndrome characterised by skin lesions, kidney tumours, and pulmonary cysts that may be associated with pneumothorax. The kidney tumours range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell or papillary subtypes. Fibrofolliculomas are characterised by a circumscribed proliferation of collagen and fibroblasts surrounding distorted hair follicles from which basaloid cells protrude into the surrounding fibromucinous stroma. Other characteristic skin anomalies are trichodiscomas and acrochordons. Dermatological manifestations usually develop in the third and fourth decades of life and persist indefinitely. The syndrome is transmitted in an autosomal dominant fashion. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Birt Hogg Dubé syndrome | Is a | Multiple fibrofolliculomas | true | Inferred relationship | Some | ||
| Birt Hogg Dubé syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Birt Hogg Dubé syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Birt Hogg Dubé syndrome | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| Birt Hogg Dubé syndrome | Finding site | Hair follicle structure | true | Inferred relationship | Some | 1 | |
| Birt Hogg Dubé syndrome | Associated morphology | Follicular fibroma | true | Inferred relationship | Some | 1 | |
| Birt Hogg Dubé syndrome | Is a | Chronic disease of skin | true | Inferred relationship | Some | ||
| Birt Hogg Dubé syndrome | Clinical course | Chronic persistent | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR