congenitale afwijking
duplicatie van gedeelte van korte arm van chromosoom 16
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syndroom van 16p13.11-microduplicatie (aandoening)
syndroom van 16p13.11-microduplicatie
16p13.11-microduplicatiesyndroom
16p13.11 microduplication syndrome
Trisomy 16p13.11
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.
Id719578005
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitestructuur van korte arm van chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 16
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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 map261243
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified