syndroom van partiële trisomie 17q
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syndroom van 17q21.31-microduplicatie (aandoening)
syndroom van 17q21.31-microduplicatie
17q21.31-microduplicatiesyndroom
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.
Id716683005
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 17
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ92.3
TermTrisomie van kleinste deel chromosoom
SNOMED CT to Orphanet simple map217340
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified