| 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
| | A rare syndrome characterized by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5). |
| | 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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