Shwachman-Diamond Syndrome

Preferred Label : Shwachman-Diamond Syndrome;

MeSH definition : 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 synonym : Shwachman Syndrome; Pancreatic Insufficiency and Bone Marrow Dysfunction; Shwachman-Diamond-Oski Syndrome; Shwachman Diamond Oski Syndrome; Congenital Lipomatosis of Pancreas; Pancreas Congenital Lipomatoses; Pancreas Congenital Lipomatosis; Metaphyseal Chondrodysplasia, Shwachman Type; Shwachman-Bodian-Diamond Syndrome; Shwachman Bodian Diamond Syndrome; Shwachman Diamond Syndrome; Shwachman-Bodian Syndrome; Shwachman Bodian Syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Shwachman syndrome;

Details

Origin ID

D000081003;

UMLS CUI

C0272170;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- SBDS wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Schwachman-diamond syndrome [OMIM phenotypic series]
- Shwachman Bodian Diamond syndrome [Disease (Nov.)]
- Shwachman syndrome (disorder) [SNOMED CT concept]
- Shwachman-Diamond Syndrome [NCIt concept]
- Shwachman-Diamond syndrome [ORDO Disease]
- Shwachman-Diamond syndrome [MedDRA Preferred Term]
- Shwachman-Diamond syndrome [ICD-11 More detail]
- Shwachman-Diamond syndrome [PASCAL descriptor]
- Shwachman-Diamond syndrome [DO Concept]
- Shwachman-diamond syndrome 1 [OMIM Phenotype]
- shwachman syndrome [SNOMED Notion]
Record concept(s)
- Shwachman-Diamond Syndrome [MeSH concept]
See also inter- (CISMeF)
- SBDS ribosome maturation factor [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Shwachman Bodian Diamond syndrome [Disease (Nov.)]
- Shwachman syndrome (disorder) [SNOMED CT concept]
- Shwachman-Diamond Syndrome [NCIt concept]
- Shwachman-Diamond syndrome [MedDRA Preferred Term]
- shwachman syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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