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syndroom van radiale deficiƫntie en tibiale hypoplasie (aandoening)
syndroom van radiale deficiƫntie en tibiale hypoplasie
syndroom van radiale dysplasie en tibiale hypoplasie
Radial deficiency, tibial hypoplasia syndrome
A rare genetic dysostosis syndrome with combined reduction defects of upper and lower limbs and characteristics of bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.
Id783137003
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyabnormaal korte lengte
Finding sitegehele extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ71.8
RuleTRUE
AdviceALWAYS Q71.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ72.8
RuleTRUE
AdviceALWAYS Q72.8
CorrelationSNOMED CT source code to target map code correlation not specified