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syndroom van proximale 16p11.2-microduplicatie (aandoening)
syndroom van proximale 16p11.2-microduplicatie
proximale 16p11.2-microduplicatie
proximale dup(16)(p11.2)
Proximal 16p11.2 microduplication syndrome
Proximal trisomy 16p11.2
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.
Id765142003
StatusPrimitive
Associated morphologypartiƫle trisomie
Finding sitechromosomenpaar 16
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ92.3
TermTrisomie van kleinste deel chromosoom
SNOMED CT to Orphanet simple map370079
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified