Preferred Label : 20p duplication;
ICD-11 definition : Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of
the short arm of chromosome 20. It is mostly characterized by normal growth, mild
to moderate intellectual disability, speech delay, poor coordination and evocative
facial features.;
ICD-11 synonym : Trisomy 20p; 20p duplication syndrome;
Origin ID : 1396883815;
UMLS CUI : C2930888;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of
the short arm of chromosome 20. It is mostly characterized by normal growth, mild
to moderate intellectual disability, speech delay, poor coordination and evocative
facial features.
