congenitale afwijking
deletie van gedeelte van lange arm van chromosoom 16
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16q24.3-microdeletiesyndroom (aandoening)
16q24.3-microdeletiesyndroom
16q24.3 microdeletion syndrome
Monosomy 16q24.3
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.
Id719580004
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 16
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 map261250
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified