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syndroom van congenitaal cataract, verstandelijke beperking, atresie van anus en afwijking van urinewegen (aandoening)
syndroom van congenitaal cataract, verstandelijke beperking, atresie van anus en afwijking van urinewegen
syndroom van Karandikar-Maria-Kamble
syndroom van congenitaal cataract, verstandelijke handicap, atresie van anus en afwijking van urinewegen
syndroom van congenitaal cataract, mentale retardatie, atresie van anus en afwijking van urinewegen
Karandikar Maria Kamble syndrome
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
This syndrome has main feature of congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. It has been described in three siblings born to nonconsanguineous parents. It is likely to be transmitted as an autosomal recessive trait.
Id715989002
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyatresie
Finding sitestructuur van anus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ42.3
RuleTRUE
AdviceALWAYS Q42.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ64.9
RuleTRUE
AdviceALWAYS Q64.9
CorrelationSNOMED CT source code to target map code correlation not specified