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syndroom van afwezigheid van been en congenitaal cataract (aandoening)
syndroom van afwezigheid van been en congenitaal cataract
syndroom van afwezigheid van onderste extremiteit en aangeboren staar
syndroom van afwezigheid van been en aangeboren staar
Absence deformity of leg and congenital cataract syndrome
A very rare syndromic limb malformation described in two distantly related boys. Its features are described as absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.
Id716099003
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitestructuur van onderste extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ72.8
RuleTRUE
AdviceALWAYS Q72.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0
CorrelationSNOMED CT source code to target map code correlation not specified