Preferred Label : Boomerang dysplasia;
ICD-11 definition : Boomerang dyplasia is a lethal syndrome with a major bone disorder that consists of
short stature, short bowed rigid limbs with ossification defects and some absent bones
(fibulae and radii) and characteristic facies (broad nasal root and hypoplasia of
the nares and septum).;
Origin ID : 423736259;
UMLS CUI : C0432201;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Boomerang dyplasia is a lethal syndrome with a major bone disorder that consists of
short stature, short bowed rigid limbs with ossification defects and some absent bones
(fibulae and radii) and characteristic facies (broad nasal root and hypoplasia of
the nares and septum).
