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syndroom van verstandelijke beperking en strabismus (aandoening)
syndroom van verstandelijke beperking en strabismus
syndroom van verstandelijke handicap en scheelzien
syndroom van mentale retardatie en strabisme
Intellectual disability with strabismus syndrome
A rare genetic syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, and abnormal central nervous system myelination or corpus callosum agenesis. There is evidence the disease is caused by homozygous mutation in the ADAT3 gene on chromosome 19p13.
Id773405004
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH50.8
RuleTRUE
AdviceALWAYS H50.8
CorrelationSNOMED CT source code to target map code correlation not specified