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;
Origin ID : C61235;
UMLS CUI : C0272170;
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Has associated anatomic sites
- Semantic type(s)
- UMLS correspondences (same concept)
- associated_with_malfunction_of_gene_product
- concept_is_in_subset
- disease_has_associated_gene
- disease_has_finding
- disease_mapped_to_gene
- may_be_associated_disease_of_disease
- related_to_genetic_biomarker