Shwachman-Diamond Syndrome

Preferred Label : Shwachman-Diamond Syndrome;

NCIt synonyms : Shwachman-Diamond-Oski Syndrome; Schwachmann-Diamond Syndrome; Shwachman-Bodian-Diamond Syndrome;

NCIt related terms : Shwachman syndrome; SDS;

NCIt definition : A rare, autosomal recessive disorder characterized by exocrine pancreas insufficiency, skeletal abnormalities, bone marrow dysfunction, and an increased incidence of leukemia.;

Alternative definition : NCI-GLOSS: A rare, inherited disorder in which the pancreas and bone marrow do not work the way they should. Symptoms include problems digesting food, a low number of neutrophils (a type of white blood cell), bone problems, and being short. Infants with the disorder get bacterial infections and are at an increased risk of aplastic anemia, myelodysplastic syndrome, and leukemia.;

Codes from synonyms : CDR0000644776; CDR0000644777; CDR0000644775;

Details

Origin ID

C61235;

UMLS CUI

C0272170;

Automatic exact mappings (from CISMeF team)
- Instantaneous death [ICD-11 Subcategory]
- SBDS ribosome maturation factor [ORDO Gene]
- Salla disease [OMIM Phenotype]
- Serine dehydratase [OMIM gene]
- Shy-Drager syndrome [ORDO Disease]
- Syndromic diarrhea [ORDO Disease]
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 [MeSH Descriptor]
- Shwachman-Diamond Syndrome [MeSH concept]
- Shwachman-Diamond syndrome [PASCAL descriptor]
- Shwachman-Diamond syndrome [DO Concept]
- Shwachman-Diamond syndrome [ICD-11 More detail]
- Shwachman-Diamond syndrome [MedDRA Preferred Term]
- Shwachman-Diamond syndrome [ORDO Disease]
- Shwachman-diamond syndrome 1 [OMIM Phenotype]
- shwachman syndrome [SNOMED Notion]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
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 [MeSH Descriptor]
- Shwachman-Diamond syndrome [MedDRA Preferred Term]
- Shwachman-Diamond syndrome [ORDO Disease]
- Shwachman-Diamond syndrome [PASCAL descriptor]
- Shwachman-Diamond syndrome [DO Concept]
- Shwachman-diamond syndrome 1 [OMIM Phenotype]
- shwachman syndrome [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Ribosome Maturation Protein SBDS [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_associated_disease
- Non-Neoplastic Bone Disorder [NCIt concept]
- Pancreatic Insufficiency [NCIt concept]
disease_has_associated_gene
- SBDS Gene [NCIt concept]
- SBDS wt Allele [NCIt concept]
disease_has_finding
- Bone Marrow Failure [NCIt concept]
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- SBDS Gene Mutation [NCIt concept]
disease_mapped_to_gene
- SBDS Gene [NCIt concept]
may_be_associated_disease_of_disease
- Refractory Cytopenia of Childhood [NCIt concept]
related_to_genetic_biomarker
- SBDS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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