Preferred Label : Microcephalic primordial dwarfism, Toriello type;
ICD-11 definition : Microcephalic primordial dwarfism, Toriello type is a skeletal dysplasia characterised
by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit,
immune deficiency, delayed ossification and enamel hypoplasia.;
Origin ID : 279033035;
Currated CISMeF NLP mapping
Microcephalic primordial dwarfism, Toriello type is a skeletal dysplasia characterised
by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit,
immune deficiency, delayed ossification and enamel hypoplasia.
