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Hemic and Lymphatic Diseases > Hematologic Diseases > Hemorrhagic Disorders > Hemostatic Disorders > Pseudoxanthoma Elasticum
Cardiovascular Diseases > Vascular Diseases > Hemostatic Disorders > Pseudoxanthoma Elasticum
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Pseudoxanthoma Elasticum
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Pseudoxanthoma Elasticum
Skin and Connective Tissue Diseases > Connective Tissue Diseases > Pseudoxanthoma Elasticum
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Pseudoxanthoma Elasticum
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Pseudoxanthoma Elasticum

Preferred term

Pseudoxanthoma Elasticum  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Elasticum, Incomplete Pseudoxanthoma
  • Elasticums, Incomplete Pseudoxanthoma
  • Gronblad Strandberg Syndrome
  • Gronblad-Strandberg Syndrome
  • Incomplete Pseudoxanthoma Elasticum
  • Incomplete Pseudoxanthoma Elasticums
  • Pseudoxanthoma Elasticum, Incomplete
  • Pseudoxanthoma Elasticums, Incomplete
  • Syndrome, Gronblad-Strandberg

Note

  • in titles & translations use diacritic: Grönblad

Scope note

  • An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.

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URI

http://www.yso.fi/onto/mesh/D011561

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