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syndroom van congenitaal cataract, ataxie en doofheid (aandoening)
syndroom van congenitaal cataract, ataxie en doofheid
Congenital cataract with ataxia and deafness syndrome
This syndrome has characteristics of mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.
Id719102004
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified