|
1 / 1
|
DeCS
|
|
 |
|
Descriptor English:
|
|
Shwachman-Diamond Syndrome
|
|
Descriptor Spanish:
|
|
Síndrome de Shwachman-Diamond
|
|
Descriptor Portuguese:
|
|
Síndrome de Shwachman-Diamond
|
|
Synonyms English:
|
|
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 Syndrome
Shwachman Diamond Oski Syndrome
Shwachman Diamond Syndrome
Shwachman Syndrome
Shwachman-Bodian Syndrome
Shwachman-Bodian-Diamond Syndrome
Shwachman-Diamond-Oski Syndrome
|
|
Tree Number:
|
|
C06.689.276.500
C15.378.190.223.500.875
C18.452.584.718.875
|
|
Definition English:
|
|
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 English:
|
|
2020(2014)
|
|
Allowable Qualifiers English:
|
|
|
|
Record Number:
|
|
59235
|
|
Unique Identifier:
|
|
D000081003
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS
|