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16p11.2p12.2-microdeletiesyndroom (aandoening)
16p11.2p12.2-microdeletiesyndroom
16p11.2p12.2 microdeletion syndrome
Monosomy 16p11.2p12.2
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
Id719576009
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 16
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map261211
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified