Structured Summary
Abstract
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.
MeSH Record
Classification
Related Concepts
Knowledge Graph
Drag nodes to rearrange; hover to trace links; click a node to open its page.
MeSH Record
Synonyms
13 entry terms
- Congenital Lipomatosis of Pancreas
- Metaphyseal Chondrodysplasia, Shwachman Type
- Pancreatic Insufficiency and Bone Marrow Dysfunction
- Shwachman Diamond Syndrome
- Shwachman Syndrome
- Shwachman-Bodian Syndrome
- Shwachman-Bodian-Diamond Syndrome
- Shwachman-Diamond-Oski Syndrome
- Pancreas Congenital Lipomatoses
- Pancreas Congenital Lipomatosis
- Shwachman Bodian Diamond Syndrome
- Shwachman Bodian Syndrome
- Shwachman Diamond Oski Syndrome
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
2020(2014)
MeSH Hierarchy
Tree Numbers
AMA Style
References
- National Library of Medicine. Shwachman-Diamond Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D000081003. http://id.nlm.nih.gov/mesh/2026/D000081003
- Shwachman-Diamond Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Shwachman%E2%80%93Diamond_syndrome
- Shwachman-Diamond Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1970052