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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 characterized by 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
DHD Diagnosis thesaurus reference set
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