Preferred Label : 17p13.3 duplication;
ICD-11 definition : 17p13.3 microduplication syndrome is a chromosomal anomaly characterized by a common
clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete
craniofacial dysmorphic features including a high forehead with frontal bossing, a
small nose and a small mouth.;
ICD-11 synonym : Trisomy 17p13.3; 17p13.3 duplication syndrome;
Origin ID : 288421473;
Currated CISMeF NLP mapping
17p13.3 microduplication syndrome is a chromosomal anomaly characterized by a common
clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete
craniofacial dysmorphic features including a high forehead with frontal bossing, a
small nose and a small mouth.
