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Boomerang dysplasia

^ http://www.orpha.net/ORDO/Orphanet_1263


Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

Term info

database cross reference
  • UMLS:C0432201 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q87.1 (Attributed)
  • MeSH:C536573 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:112310 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q87.1 (NTBT (narrower term maps to a broader term))
hasDbXref

OMIM:112310, ICD-10:Q87.1, UMLS:C0432201, MeSH:C536573

notation

ORPHA:1263