Skip to main content

Human Diseases (thesaurus)

Search from vocabulary

align
annotate
download

Concept information

disease > genetic disease > hereditary disease > Shwachman-Diamond syndrome
disease > congenital disease > malformation > dysostosis > Shwachman-Diamond syndrome
disease > diseases of the osteoarticular system > dysostosis > Shwachman-Diamond syndrome
disease > hemopathy > leukopenia > neutropenia > Shwachman-Diamond syndrome
disease > digestive diseases > pancreatic disease > exocrine pancreas insufficiency > Shwachman-Diamond syndrome

Preferred term

Shwachman-Diamond syndrome  

Definition

  • Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities and short stature. (Wikipedia)

Broader concept

Entry terms

  • Shwachman-Bodian syndrome

In other languages

URI

http://data.loterre.fr/ark:/67375/VH8-RM7L6Z6J-L

Download this concept:

RDF/XML TURTLE JSON-LD