aplasie van fibula gelijktijdig met complexe brachydactylie (aandoening) | | aplasie van fibula gelijktijdig met complexe brachydactylie | | syndroom van Du Pan
| | Fibular aplasia and complex brachydactyly | | Du Pan syndrome Aplasia of fibula co-occurrent with complex brachydactyly
| | Severe reduction or absence of the fibula and complex brachydactyly. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene. |
| Id | 715474004 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q72.8 | Term | Overige gespecificeerde onderontwikkeling van onderste extremiteit(en) |
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SNOMED CT to Orphanet simple map | 2639 |
SNOMED CT to ICD-10 extended map | Target | Q72.8 | Rule | TRUE | Advice | ALWAYS Q72.8 | 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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