Preferred Label : 2q24 deletion;
ICD-11 definition : 2q24 microdeletion syndrome is a chromosomal anomaly giving raise to a clinically
recognizable syndrome including eye anomalies (coloboma, cataract and microphthalmia),
anomalies of hands and feet (flexion deformities) and congenital heart defects.;
ICD-11 synonym : 2q24 deletion syndrome; Monosomy 2q24;
Origin ID : 825166464;
UMLS CUI : C2931816;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
2q24 microdeletion syndrome is a chromosomal anomaly giving raise to a clinically
recognizable syndrome including eye anomalies (coloboma, cataract and microphthalmia),
anomalies of hands and feet (flexion deformities) and congenital heart defects.
