Preferred Label : Iris dysplasia - hypertelorism - deafness;
ICD-11 definition : Iris dysplasia - hypertelorism - deafness syndrome is characterised by iris hypoplasia,
ocular hypertelorism, psychomotor retardation, short stature, hypotonia and joint
hyperlaxity. Mild deafness may also be present.;
Origin ID : 998725834;
UMLS CUI : C2930925;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Iris dysplasia - hypertelorism - deafness syndrome is characterised by iris hypoplasia,
ocular hypertelorism, psychomotor retardation, short stature, hypotonia and joint
hyperlaxity. Mild deafness may also be present.