Preferred Label : Acromesomelic dysplasia, Hunter-Thomson type;
ICD-11 definition : Acromesomelic dysplasia Hunter-Thompson type is a very rare autosomal recessive disorder
belonging to the group of acromesomelic dysplasias, and is clinically characterized
by severe dwarfism with abnormalities limited to the limbs with the middle and distal
segments being the most affected, and the lower limbs are more affected than the upper
limbs.;
Origin ID : 233333310;
UMLS CUI : C2930970;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Acromesomelic dysplasia Hunter-Thompson type is a very rare autosomal recessive disorder
belonging to the group of acromesomelic dysplasias, and is clinically characterized
by severe dwarfism with abnormalities limited to the limbs with the middle and distal
segments being the most affected, and the lower limbs are more affected than the upper
limbs.