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Skin and Connective Tissue Diseases > Skin Diseases > Lipomatosis > Shwachman-Diamond Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipomatosis > Shwachman-Diamond Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Congenital Bone Marrow Failure Syndromes > Shwachman-Diamond Syndrome
... > Hemic and Lymphatic Diseases > Hematologic Diseases > Bone Marrow Diseases > Bone Marrow Failure Disorders > Congenital Bone Marrow Failure Syndromes > Shwachman-Diamond Syndrome
Digestive System Diseases > Pancreatic Diseases > Exocrine Pancreatic Insufficiency > Shwachman-Diamond Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Shwachman-Diamond Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Shwachman-Diamond Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Shwachman-Diamond Syndrome

Preferred term

Shwachman-Diamond Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Congenital Lipomatosis of Pancreas
  • Metaphyseal Chondrodysplasia, Shwachman Type
  • Pancreas Congenital Lipomatoses
  • Pancreas Congenital Lipomatosis
  • Pancreatic Insufficiency and Bone Marrow Dysfunction
  • Shwachman Bodian Diamond Syndrome
  • Shwachman-Bodian-Diamond Syndrome
  • Shwachman Bodian Syndrome
  • Shwachman-Bodian Syndrome
  • Shwachman Diamond Oski Syndrome
  • Shwachman-Diamond-Oski Syndrome
  • Shwachman Diamond Syndrome
  • Shwachman Syndrome

Scope note

  • An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia). GERMLINE MUTATIONS in the SBDS gene are associated with Shwachman-Diamond Syndrome.

History note

  • 2020(2014)

In other languages

URI

http://www.yso.fi/onto/mesh/D000081003

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