syndroom van partiële trisomie 10q
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syndroom van 10q22.3q23.3-microduplicatie (aandoening)
syndroom van 10q22.3q23.3-microduplicatie
10q22.3q23.3-microduplicatiesyndroom
10q22.3q23.3 microduplication syndrome
Trisomy 10q22.3q23.3
A rare chromosomal anomaly with characteristics of variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.
Id782669004
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 10
Occurrencecongenitaal
Associated morphologypartiële trisomie
Finding sitestructuur van lange arm van chromosoom
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 map276422
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified