deletie van gedeelte van lange arm van chromosoom 17
malformatiesyndroom met betrokkenheid van meerdere systemen
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17q23.1q23.2-microdeletiesyndroom (aandoening)
17q23.1q23.2-microdeletiesyndroom
17q23.1q23.2 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
Id719584008
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 17
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypartiële monosomie
Finding sitestructuur van lange arm van chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map261279
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified