Preferred Label : 2q32q33 deletion;
ICD-11 definition : 2q32q33 microdeletion syndrome is a chromosomal anomalye associated with a variable
phenotype involving moderate to severe intellectual deficit, significant speech delay,
persistent feeding difficulties, growth retardation and dysmorphic features.;
ICD-11 synonym : Monosomy 2q31.2-q32.3; 2q32 microdeletion syndrome; Monosomy 2q32; 2q31.2-q32.3 microdeletion syndrome;
Origin ID : 2015922071;
Currated CISMeF NLP mapping
2q32q33 microdeletion syndrome is a chromosomal anomalye associated with a variable
phenotype involving moderate to severe intellectual deficit, significant speech delay,
persistent feeding difficulties, growth retardation and dysmorphic features.
