17q partial trisomy syndrome	Autosomal dominant hereditary disorder	Developmental hereditary disorder	Intellectual disability
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17q11.2 microduplication syndrome (disorder)
	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.
	17q11.2-microduplicatiesyndroom
	syndroom van Grisart-Destrée trisomie 17q11.2

Id	719583002
Status	Primitive

Associated morphology	Partial trisomy
Finding site	Chromosome pair 17
Occurrence	Congenital

Pathological process

Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q92.3
Rule	TRUE
Advice	ALWAYS Q92.3
Correlation	SNOMED CT source code to target map code correlation not specified