Preferred Label : 2p15p16.1 deletion;
ICD-11 definition : 2p15p16.1 microdeletion syndrome is a chromosomal,nomaly characterized by developmental
delay and facial dysmorphism (receding forehead, telecanthus, epicanthic fold, short
and down-slanting palpebral fissures, ptosis, broad and high nasal bridge, retrognathia,
flat philtrum, small mouth with high, narrow palate and everted lower lip).;
Origin ID : 1407509131;
CISMeF manual mappings
- Currated CISMeF NLP mapping
2p15p16.1 microdeletion syndrome is a chromosomal,nomaly characterized by developmental
delay and facial dysmorphism (receding forehead, telecanthus, epicanthic fold, short
and down-slanting palpebral fissures, ptosis, broad and high nasal bridge, retrognathia,
flat philtrum, small mouth with high, narrow palate and everted lower lip).
