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syndroom van 22q11.2-microduplicatie (aandoening)
syndroom van 22q11.2-microduplicatie
22q11.2-duplicatiesyndroom
22q11.2-microduplicatiesyndroom
22q11.2 duplication syndrome
Chromosome 22q11.2 duplication syndrome
Chromosome 22q11.2 microduplication syndrome
22q11.2 duplication
The association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial, establishing a complementary duplication syndrome. The clinical presentation of patients is extremely variable and shares features with 22q11.2 deletion syndromes including heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.
Id699311001
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 22
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ92.8
RuleTRUE
AdviceALWAYS Q92.8
CorrelationSNOMED CT source code to target map code correlation not specified