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syndroom van 17q12-microduplicatie (aandoening)
syndroom van 17q12-microduplicatie
17q12-microduplicatiesyndroom
17q12 microduplication syndrome
17q12 duplication syndrome
Chromosome 17q12 duplication syndrome
Trisomy 17q12
Syndrome with significant variations in manifestations even among members of the same family. Some affected individuals have no apparent signs or symptoms or only mild features, while others may have intellectual disability, delayed development and a wide range of physical abnormalities. Seizures are common and autistic spectrum disorder, schizophrenia, aggression, self-injury have been reported. Microcephaly, abnormalities of the eyes, heart, kidneys and brain are also associated features.
Id764435003
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 17
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified