Preferred Label : 5p duplication;
ICD-11 definition : Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment
of variable size of the short arm of chromosome 5, which usually involves the distal
band 5p15. The clinical presentation is variable but is always associated with severe
intellectual deficit.;
ICD-11 synonym : 5p duplication syndrome; Short arm of chromosome 5 trisomy;
Origin ID : 223988065;
UMLS CUI : C2931575;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment
of variable size of the short arm of chromosome 5, which usually involves the distal
band 5p15. The clinical presentation is variable but is always associated with severe
intellectual deficit.
