Preferred Label : Cornelia de Lange syndrome;
ICD-11 definition : Cornelia de Lange syndrome is a multisystem disorder with variable expression marked
by a characteristic facial dysmorphism, variable degrees of intellectual deficit,
severe growth retardation beginning before birth (2nd trimester), abnormal hands and
feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia
of the first metacarpus), and various other malformations (i.e. heart, kidney).;
Origin ID : 1801560012;
Currated CISMeF NLP mapping
Cornelia de Lange syndrome is a multisystem disorder with variable expression marked
by a characteristic facial dysmorphism, variable degrees of intellectual deficit,
severe growth retardation beginning before birth (2nd trimester), abnormal hands and
feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia
of the first metacarpus), and various other malformations (i.e. heart, kidney).
