Preferred Label : Dyggve-Melchior-Clausen disease;
ICD-11 definition : Dyggve-Melchior-Clausen disease is a rare skeletal disorder belonging to the group
of spondyloepimetaphyseal dysplasias (SEMD), and characterized by progressive dwarfism
with short trunk, protruding sternum, microcephaly and mental retardation of varying
severity.;
Origin ID : 21266164;
UMLS CUI : C0265286;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Dyggve-Melchior-Clausen disease is a rare skeletal disorder belonging to the group
of spondyloepimetaphyseal dysplasias (SEMD), and characterized by progressive dwarfism
with short trunk, protruding sternum, microcephaly and mental retardation of varying
severity.
