Preferred Label : Pitt-Hopkins syndrome;
ICD-11 definition : Pitt-Hopkins syndrome is a syndrome characterized by the association of intellectual
deficit, characteristic facial dysmorphism and problems of abnormal and irregular
breathing.;
Origin ID : 2040786134;
Currated CISMeF NLP mapping
Pitt-Hopkins syndrome is a syndrome characterized by the association of intellectual
deficit, characteristic facial dysmorphism and problems of abnormal and irregular
breathing.