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17q11.2-microduplicatiesyndroom (aandoening)
17q11.2-microduplicatiesyndroom
syndroom van Grisart-Destrée
trisomie 17q11.2
17q11.2 microduplication syndrome
Trisomy 17q11.2
Grisart Destree syndrome
Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance.
Id719583002
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 17
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified