Preferred Label : 16p11.2 deletion;
ICD-11 definition : The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized
by developmental and language delays, mild intellectual disability, social impairments
(autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.;
ICD-11 synonym : Proximal 16p11.2 microdeletion syndrome; Monosomy 16p11.2; 16p11.2 deletion syndrome;
Origin ID : 1398449020;
Currated CISMeF NLP mapping
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized
by developmental and language delays, mild intellectual disability, social impairments
(autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.