Preferred Label : Spondyloepimetaphyseal dysplasia, matrilin-3 type;
ICD-11 definition : Spondyloepimetaphyseal dysplasia (SEMD), matrilin-3 type is a form of SEMD characterized
by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and
stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis,
hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.;
Origin ID : 1983063881;
Currated CISMeF NLP mapping
Spondyloepimetaphyseal dysplasia (SEMD), matrilin-3 type is a form of SEMD characterized
by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and
stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis,
hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
