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syndroom van tibiale hemimelie, polysyndactylie en trifalangeale digitus I (aandoening)
syndroom van tibiale hemimelie, polysyndactylie en trifalangeale digitus I
syndroom van tibiale hemimelie, polysyndactylie en trifalangeale duim
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
Absent tibia polydactyly syndrome
A rare genetic dysostosis syndrome with marked inter and intra-familial variation with typical characteristics of triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.
Id764857004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified