| syndroom van multicentrische carpotarsale osteolyse (aandoening) | | syndroom van multicentrische carpotarsale osteolyse | | Multicentric carpotarsal osteolysis syndrome | | A very rare syndrome with characteristics of progressive loss of bone usually of the carpal and tarsal bones resulting in deformity and disability and accompanied by chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. There is evidence the disease is caused by heterozygous mutation in the MAFB gene on chromosome 20q12. |
| | Id | 766992008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q78.8 | | Term | Overige gespecificeerde osteochondrodysplasieën |
|
| SNOMED CT to Orphanet simple map | 2774 |
| SNOMED CT to ICD-10 extended map | | Target | Q78.8 | | Rule | TRUE | | Advice | ALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
