Preferred Label : 6p24pter deletion;
ICD-11 definition : Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with
a recognizable clinical picture including intellectual deficit, ocular abnormalities
that mainly affect the anterior chamber of the eye, hearing loss, and facial dysmorphism.;
ICD-11 synonym : 6p25 microdeletion syndrome; Monosomy 6p25; 6p25 deletion syndrome;
Origin ID : 1452973874;
Currated CISMeF NLP mapping
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with
a recognizable clinical picture including intellectual deficit, ocular abnormalities
that mainly affect the anterior chamber of the eye, hearing loss, and facial dysmorphism.
