Preferred Label : Emphysema, congenital, with deafness, penoscrotal web, and intellectual developmental
disorder;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Emphysema, congenital, with deafness, penoscrotal web, and mental retardation;
Prefixed ID : 602564;
Origin ID : 602564;
UMLS CUI : C1865180;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)