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Diastrophic dwarfism

^ http://www.orpha.net/ORDO/Orphanet_628


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

Synonyms: Diastrophic dysplasia

Term info

database cross reference
  • OMIM:222600 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q77.5 (Specific code (The term has its own code in the ICD10))
  • UMLS:C0220726 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q77.5 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

OMIM:222600, ICD-10:Q77.5, UMLS:C0220726

notation

ORPHA:628