|
syndroom van distale trisomie 17q (aandoening)
syndroom van distale trisomie 17q
telomerische duplicatie 17q
distale trisomie 17q
distale trisomie van lange arm van chromosoom 17
Distal trisomy 17q
Telomeric duplication 17q
Distal duplication 17q
Distal trisomy 17q syndrome
A rare chromosomal anomaly syndrome with a variable phenotype. Principally characteristics are intellectual disability, developmental delay, short stature, craniofacial dysmorphism (including microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachy rhizomelia, poly/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.
Id766051001
StatusPrimitive
Associated morphologypartiƫle trisomie
Finding sitechromosomenpaar 17
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified
|