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_disease
disease_has_associated_gene
disease_has_finding
disease_has_molecular_abnormality
disease_mapped_to_gene
may_be_associated_disease_of_disease
related_to_genetic_biomarker