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niet-progressieve cerebellaire ataxie met verstandelijke beperking (aandoening)
niet-progressieve cerebellaire ataxie met verstandelijke beperking
niet-progressieve cerebellaire ataxie met mentale retardatie
niet-progressieve cerebellaire ataxie met verstandelijke handicap
Non-progressive cerebellar ataxia with intellectual disability
Disease with characteristics of the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and in later life intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). Caused by heterozygous disruption of the CAMTA1 gene on chromosome 1p36.
Id723441001
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG11.0
RuleTRUE
AdviceALWAYS G11.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified