A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.

This is just here as a test because I lose it

Term information

database cross reference
  • ICD-10:Q79.6 (E (Exact mapping: the two concepts are equivalent))
  • ICD-10:Q79.6 (Specific code (The ORPHA code has its own code in the ICD10))
  • MedDRA:10014316 (E (Exact mapping: the two concepts are equivalent))
  • MeSH:D004535 (E (Exact mapping: the two concepts are equivalent))
  • UMLS:C0013720 (E (Exact mapping: the two concepts are equivalent))
hasDbXref

MeSH:D004535

MedDRA:10014316

UMLS:C0013720

ICD-10:Q79.6

notation

ORPHA:98249