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7p22.1-microduplicatiesyndroom (aandoening)
7p22.1-microduplicatiesyndroom
trisomie 7p22.1
7p22.1 microduplication syndrome
Trisomy 7p22.1
A rare chromosomal anomaly syndrome, resulting from a partial interstitial micro duplication of the short arm of chromosome 7. The disease has characteristics of intellectual disability, psychomotor and speech delay, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.
Id764703002
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 7
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified