deletie van gedeelte van korte arm van chromosoom 16
malformatiesyndroom met betrokkenheid van meerdere systemen
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16p13.11-microdeletiesyndroom (aandoening)
16p13.11-microdeletiesyndroom
16p13.11 microdeletion syndrome
Monosomy 16p13.11
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.
Id719577000
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 16
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypartiële monosomie
Finding sitestructuur van korte arm van chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map261236
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified