Preferred Label : Opsismodysplasia;
ICD-11 definition : Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism (rhizomelic
micromelia) and facial dysmorphism (macrocephaly, prominent brow, large fontanels,
depressed nasal bridge, a small nose, anteverted nares and a long philtrum, hypertelorism,
and exophthalmos).;
Origin ID : 2147268863;
UMLS CUI : C0432219;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism (rhizomelic
micromelia) and facial dysmorphism (macrocephaly, prominent brow, large fontanels,
depressed nasal bridge, a small nose, anteverted nares and a long philtrum, hypertelorism,
and exophthalmos).