NLM Logo

Shwachman-Diamond Syndrome MeSH Descriptor Data 2022


MeSH Heading
Shwachman-Diamond Syndrome
Tree Number(s)
C06.689.276.500
C15.378.190.223.500.875
C18.452.584.563.824
C18.452.584.718.875
Unique ID
D000081003
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D000081003
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.
Entry Term(s)
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
Public MeSH Note
2020; SHWACHMAN-DIAMOND SYNDROME was indexed under BONE MARROW DISEASES; LIPOMATOSIS; and EXOCRINE PANCREATIC INSUFFICIENCY 2014-2019
History Note
2020(2014)
Date Established
2020/01/01
Date of Entry
2019/07/08
Revision Date
2021/07/01
Shwachman-Diamond Syndrome Preferred
page delivered in 0.142s