Preferred Label : Achondrogenesis type 2;
ICD-11 definition : Achondrogenesis type 2, a form of achondrogenesis, is a very rare and lethal skeletal
dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby
severe micromelia, short neck with large head, small thorax, protuberant abdomen,
underdeveloped lungs, distinctive facial features such as a prominent forehead, a
small chin, a cleft palate (in some) and distinctive histological features of the
cartilage.;
ICD-11 synonym : Langer-Saldino dysplasia; Achondrogenesis, Langer-Saldino type;
Origin ID : 1935291412;
UMLS CUI : C0220685;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Achondrogenesis type 2, a form of achondrogenesis, is a very rare and lethal skeletal
dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby
severe micromelia, short neck with large head, small thorax, protuberant abdomen,
underdeveloped lungs, distinctive facial features such as a prominent forehead, a
small chin, a cleft palate (in some) and distinctive histological features of the
cartilage.
