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syndroom van partiële trisomie 20p (aandoening)
syndroom van partiële trisomie 20p
partiële trisomie van chromosoom 20p
partiële trisomie van korte arm van chromosoom 20
20p partial trisomy syndrome
Trisomy 20p syndrome
Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion.
Id111311004
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 20
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map261318
SNOMED CT to ICD-10 extended map
TargetQ92.8
RuleTRUE
AdviceALWAYS Q92.8
CorrelationSNOMED CT source code to target map code correlation not specified