Auditory system hereditary disorder
Autosomal recessive hereditary disorder
Chronic mental disorder
Chronic nervous system disorder
Congenital cataract
Congenital neurological disorder
Developmental hereditary disorder
Disorder of sensory function
Hearing loss associated with syndrome
Hereditary ataxia
Hereditary disorder of the visual system
Intellectual disability
Sensorineural hearing loss
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Congenital cataract with ataxia and deafness syndrome (disorder)
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.
syndroom van congenitaal cataract, ataxie en doofheid
Id719102004
StatusPrimitive
InterpretsHearing
Associated morphologyOpacity
Finding siteLens clear
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteStructure of auditory system
Clinical courseProgressive
Finding siteStructure of nervous system
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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