Shwachman-Diamond Syndrome [Shwachmanův-Diamondův syndrom]
- Terms
-
pankreatická lipomatóza vrozená
Shwachman-Bodianův-Diamondův syndrom
Shwachmanův syndrom
Shwachmanův-Bodianův-Diamondův syndrom
vrozená lipomatóza pankreatu
-
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
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.
- DUI
- D000081003 MeSH Browser
- CUI
- M000649330
- History note
- 2020(2014)
- Public note
- 2020; SHWACHMAN-DIAMOND SYNDROME was indexed under BONE MARROW DISEASES; LIPOMATOSIS; and EXOCRINE PANCREATIC INSUFFICIENCY 2014-2019
Allowable subheadings
- BL
- blood 0
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 0
- DI
- diagnosis 1
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 0
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 0
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 0
- GE
- genetics 0
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 0
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 0
- PP
- physiopathology 0
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 1
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0