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syndroom van 16p13.2-microdeletie (aandoening)
syndroom van 16p13.2-microdeletie
monosomie 16p13.2
microdeletie van chromosoom 16p13.2
16p13.2-microdeletiesyndroom
16p13.2 microdeletion syndrome
Monosomy 16p13.2
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.
Id1228890005
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 16
Occurrencecongenitaal
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
SNOMED CT to Orphanet simple map500055
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified