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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.
Id720953006
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van voet
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyverdubbeling
Finding sitebotstructuur van fibula
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ74.8
TermOverige gespecificeerde congenitale misvormingen van extremiteit(en)
SNOMED CT to Orphanet simple map1757
SNOMED CT to ICD-10 extended map
TargetQ74.8
RuleTRUE
AdviceALWAYS Q74.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified