| Descriptor English: | Shwachman-Diamond Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Shwachman-Diamond
| ||||||
| Descriptor Portuguese: | Síndrome de Shwachman-Diamond | ||||||
| Descriptor French: | Maladie de Shwachman | ||||||
| Entry term(s): |
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(s): |
C06.689.276.500 C15.378.190.223.500.875 C18.452.584.563.824 C18.452.584.718.875 |
||||||
| RDF Unique Identifier: | https://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. |
||||||
| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
||||||
| Public MeSH Note: | 2020; SHWACHMAN-DIAMOND SYNDROME was indexed under BONE MARROW DISEASES; LIPOMATOSIS; and EXOCRINE PANCREATIC INSUFFICIENCY 2014-2019 |
||||||
| History Note: | 2020(2014) |
||||||
| DeCS ID: | 59235 | ||||||
| Unique ID: | D000081003 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2020/01/01 | ||||||
| Date of Entry: | 2019/07/08 | ||||||
| Revision Date: | 2019/06/17 |
|
|
Shwachman-Diamond Syndrome
- Preferred
| Concept UI |
M000649330 |
| 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. |
| Preferred term | Shwachman-Diamond Syndrome |
| Entry term(s) |
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 |
We want your feedback on the new DeCS / MeSH website
We invite you to complete a survey that will take no more than 3 minutes.
Go to survey
