Preferred Label : Spondyloepimetaphyseal dysplasia, Missouri type;
ICD-11 definition : Spondyloepimetaphyseal dysplasia (SEMD), Missouri type is a forme of SEMD characterized
by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic
shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara,
genu varum and pear-shaped vertebrae in childhood.;
Origin ID : 1593289281;
UMLS CUI : C1865832;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Spondyloepimetaphyseal dysplasia (SEMD), Missouri type is a forme of SEMD characterized
by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic
shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara,
genu varum and pear-shaped vertebrae in childhood.
