Preferred Label : 1q21.1 deletion;
ICD-11 definition : 1q21.1 microdeletion syndrome is a recurrent deletion syndrome with variable clinical
manifestations including variable intellectual deficit and facial dysmorphism, but
without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome, which
is also caused by 1q21.1 deletions.;
ICD-11 synonym : Monosomy 1q21.1; 1q21.1 deletion syndrome;
Origin ID : 1854309838;
UMLS CUI : C2675897;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
1q21.1 microdeletion syndrome is a recurrent deletion syndrome with variable clinical
manifestations including variable intellectual deficit and facial dysmorphism, but
without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome, which
is also caused by 1q21.1 deletions.
