Preferred Label : Acromesomelic dysplasia, Maroteaux type;
ICD-11 definition : Acromesomelic dysplasia Maroteaux type is a rare autosomal recessive osteochondrodysplasia
belonging to the group of acromesomelic dysplasias, and is clinically characterized
by severe dwarfism with shortening of the middle and distal segments of the limbs,
and adiologically, by short broad fingers, shortening of the middle long bones with
a bowed radius, and vertebral abnormalities.;
Origin ID : 29990978;
UMLS CUI : C1864356;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Acromesomelic dysplasia Maroteaux type is a rare autosomal recessive osteochondrodysplasia
belonging to the group of acromesomelic dysplasias, and is clinically characterized
by severe dwarfism with shortening of the middle and distal segments of the limbs,
and adiologically, by short broad fingers, shortening of the middle long bones with
a bowed radius, and vertebral abnormalities.
