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syndroom van skeletdysplasie, epilepsie en kleine gestalte (aandoening)
syndroom van skeletdysplasie, epilepsie en kleine gestalte
syndroom van Gurrieri-Sammito-Bellussi
Skeletal dysplasia with epilepsy and short stature syndrome
Gurrieri Sammito Bellussi syndrome
Moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.
Id715428003
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5
CorrelationSNOMED CT source code to target map code correlation not specified