deletie van gedeelte van lange arm van chromosoom 2
malformatiesyndroom met betrokkenheid van meerdere systemen
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2q31.1-microdeletiesyndroom (aandoening)
2q31.1-microdeletiesyndroom
2q31.1 microdeletion syndrome
Monosomy 2q31.1
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.
Id716387004
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitestructuur van lange arm van chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 2
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map251014
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified