||
trisomie 17p (aandoening)
trisomie 17p
duplicatie van chromosoom 17p
Trisomy 17p
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.
Id717049005
StatusPrimitive
Associated morphologypartiƫle trisomie
Finding sitechromosomenpaar 17
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map261290
SNOMED CT to ICD-10 extended map
TargetQ92.2
RuleTRUE
AdviceALWAYS Q92.2
CorrelationSNOMED CT source code to target map code correlation not specified