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distaal Xq28-microduplicatiesyndroom (aandoening)
distaal Xq28-microduplicatiesyndroom
distale trisomie Xq28
Distal Xq28 microduplication syndrome
Distal trisomy Xq28
A rare hereditary syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism.
Id773670004
StatusPrimitive
Associated morphologypartiƫle trisomie
Finding sitestructuur van X-chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified