Preferred Label : 10p duplication;
ICD-11 definition : Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations
(MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome
10 and that results in a disctintive facial dysmorphism, severe intellectual and motor
deficiency, muscular hypotonia and hypotrophy and variable anomalies including osteoarticular,
cardiac, renal and ocular anomalies.;
ICD-11 synonym : 10p duplication syndrome; Chromosome 10 short arm trisomy;
Origin ID : 442413368;
Currated CISMeF NLP mapping
Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations
(MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome
10 and that results in a disctintive facial dysmorphism, severe intellectual and motor
deficiency, muscular hypotonia and hypotrophy and variable anomalies including osteoarticular,
cardiac, renal and ocular anomalies.
