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Loeys-Dietz syndrome

^ http://www.orpha.net/ORDO/Orphanet_60030


Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

Synonyms: Aortic aneurysm syndrome due to TGF-beta receptors anomalies

Term info

database cross reference
  • OMIM:610168 (BTNT (broader term maps to a narrower term))
  • UMLS:C1836635 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:609192 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q87.4 (NTBT (narrower term maps to a broader term))
  • ICD-10:Q87.4 (Attributed)
  • UMLS:C2697932 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

UMLS:C2697932, OMIM:609192, OMIM:610168, ICD-10:Q87.4, UMLS:C1836635

notation

ORPHA:60030