17q partial trisomy syndrome
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17q21.31 microduplication syndrome (disorder)
17q21.31 microduplication syndrome
Trisomy 17q21.31
The syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. Only five patients have been reported to date. All patients have behavioral disorders suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum. Intellectual skills range from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features.
syndroom van 17q21.31-microduplicatie
17q21.31-microduplicatiesyndroom
Id716683005
StatusPrimitive
Associated morphologyPartial trisomy
Finding siteChromosome pair 17
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified