| Birt-Hogg-Dubé-syndroom (aandoening) | | Birt-Hogg-Dubé-syndroom | | BHD
fibrofolliculoom met trichodiscoom en acrochordon
Hornstein-Knickenberg-syndroom
| | Birt Hogg Dubé syndrome | | Hornstein Knickenberg syndrome
Fibrofolliculomas with trichodiscomas and acrochordons
| | 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. |
| | Id | 1263460007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 122 |
| SNOMED CT to ICD-10 extended map | | Target | D23.9 | | Rule | TRUE | | Advice | ALWAYS D23.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE | | Correlation | SNOMED CT source code to target map code correlation not specified |
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