partiële trisomie van chromosoom 20
|
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
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.
Id111311004
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 20
Occurrencecongenitaal
Associated morphologypartiële trisomie
Finding sitestructuur van korte arm van chromosoom
Occurrencecongenitaal
SNOMED CT to Orphanet simple map261318
SNOMED CT to ICD-10 extended map
TargetQ92.8
RuleTRUE
AdviceALWAYS Q92.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified