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Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > 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
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

Preferred term

Shwachman-Diamond Syndrome  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Entry terms

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

Allowable Qualifier(s)

In other languages

  • Maladie de Shwachman

    French

  • Chondrodysplasie métaphysaire de Shwachman
  • Insuffisance pancréatique et dysfonctionnement de la moelle osseuse
  • Lipomatose congénitale du pancréas
  • Syndrome de Shwachman Diamond
  • Syndrome de Shwachman-Bodian
  • Syndrome de Shwachman-Bodian-Diamond
  • Syndrome de Shwachman-Diamond
  • Syndrome de Shwachman-Diamond-Oski

URI

http://data.loterre.fr/ark:/67375/JVR-SS1MFP2T-J

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RDF/XML TURTLE JSON-LD Created 7/8/19, last modified 7/1/21