syndroom van 15q11q13-microduplicatie (aandoening)
syndroom van 15q11q13-microduplicatie
15q11q13 microduplication syndrome
Trisomy 15q11q13
Syndrome characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. The clinical picture is highly variable even within the same family. Paternal duplications are rarely symptomatic (developmental delay/ behavioral disorders). The syndrome is due to interstitial duplications that encompass the imprinted Prader-Willi/Angelman critical region, of which deletions lead to Prader-Willi and Angelman syndromes. The causative genes are imprinted and expressed from the maternal allele.
Associated morphologypartiƫle trisomie
Finding sitechromosomenpaar 15
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermTrisomie van kleinste deel chromosoom
SNOMED CT to Orphanet simple map238446
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified