| meloreostose met osteopoikilie (aandoening) | | meloreostose met osteopoikilie | | MSBD-syndroom
gemengde scleroserende botdystrofie
| | Melorheostosis with osteopoikilosis | | Mixed sclerosing bone dystrophy
MSBD (mixed sclerosing bone dystrophy) syndrome
| | A rare sclerosing bone dysplasia combining the clinical and radiological features of melorheostosis and osteopoikilosis. The disease has been reported in some families with osteopoikilosis and with variable presentation of limb pain and deformities. Caused by a germline mutation in the LEMD3 gene (12q14), which may predispose individuals with osteopoikilosis to develop melorheostosis. Inheritance is autosomal dominant. |
| | Id | 1197053003 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 1879 |
| SNOMED CT to ICD-10 extended map | | Target | M85.89 | | Rule | TRUE | | Advice | ALWAYS M85.89 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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