congenitale afwijking
duplicatie van gedeelte van lange arm van chromosoom 15
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syndroom van 15q11q13-microduplicatie (aandoening)
syndroom van 15q11q13-microduplicatie
15q11q13-microduplicatiesyndroom
15q11q13 microduplication syndrome
Trisomy 15q11q13
The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
Id719427001
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitestructuur van lange arm van chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 15
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map
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 ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified