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syndroom van mozaïekvorm van trisomie 8 (aandoening)
syndroom van mozaïekvorm van trisomie 8
mozaïektrisomie 8
mozaïektrisomie van chromosoom 8
mozaïcisme van trisomie 8
Mosaic trisomy 8 syndrome
Mosaic trisomy chromosome 8
Warkany syndrome
Trisomy 8 mosaicism
Mosaic trisomy 8
Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. The disorder has manifestations of facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. Most patients present a moderate intellectual deficit with some patients having a normal intelligence. Mosaic trisomy 8 is the result of a post-zygotic event.
Id717335009
StatusDefined
Associated morphologychromosomaal mozaïcisme
Finding sitechromosomenpaar 8
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologytrisomie
Finding sitechromosomenpaar 8
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96061
SNOMED CT to ICD-10 extended map
TargetQ92.1
RuleTRUE
AdviceALWAYS Q92.1
CorrelationSNOMED CT source code to target map code correlation not specified