syndroom van duplicatuur van fibula, agenesie van tibia en spiegelvoet (aandoening) | | syndroom van duplicatuur van fibula, agenesie van tibia en spiegelvoet | | syndroom van fibulaire dimelie en diplopodie syndroom van beenduplicatie en spiegelvoet
| | Fibular dimelia diplopodia syndrome | | Leg duplication mirror foot syndrome
| | Fibular dimelia accompanied by complete tibial agenesis and mirror polydactyly or foot duplication is a rare developmental anomaly reported in at least 11 cases. It can be isolated or associated with ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. The cause is unknown, but has been suggested that a teratogenic event occurs as developmental specification reaches the level of the future knee. A central role for the mesenchymal precursor, from which chondro-osseous morphology emerges, has also been suggested. Treatment is surgical and prosthesis is needed in order to improve the quality of life of affected children. |
| Id | 720953006 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q74.8 | Term | Overige gespecificeerde congenitale misvormingen van extremiteit(en) |
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SNOMED CT to Orphanet simple map | 1757 |
SNOMED CT to ICD-10 extended map | Target | Q74.8 | Rule | TRUE | Advice | ALWAYS Q74.8 | 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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