Preferred Label : 8p23.1 deletion;
ICD-11 definition : 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized
by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity,
craniofacial abnormalities, and congenital heart defects.;
ICD-11 synonym : 8p23.1 deletion syndrome; Monosomy 8p23.1; 8p23.1 microdeletion syndrome;
Origin ID : 933685931;
UMLS CUI : C2931638;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized
by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity,
craniofacial abnormalities, and congenital heart defects.
