deletie van gedeelte van korte arm van chromosoom 20
malformatiesyndroom met betrokkenheid van meerdere systemen
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20p12.3-microdeletiesyndroom (aandoening)
20p12.3-microdeletiesyndroom
20p12.3 microdeletion syndrome
Monosomy 20p12.3
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.
Id719650004
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitestructuur van korte arm van chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 20
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map261295
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified