loading...| Preferred Name |
Shwachman-Diamond Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61235 |
| ALT_DEFINITION |
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. |
| code |
C61235 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
| Contributing_Source |
CTRP CCPS Cellosaurus |
| DEFINITION |
A rare, autosomal recessive disorder characterized by exocrine pancreas insufficiency, skeletal abnormalities, bone marrow dysfunction, and an increased incidence of leukemia. |
| Display_Name |
Shwachman-Diamond Syndrome |
| FULL_SYN |
SDS Shwachman-Diamond Syndrome Shwachman-Diamond syndrome Shwachman-Diamond-Oski Syndrome Shwachman syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome |
| label |
Shwachman-Diamond Syndrome |
| Legacy Concept Name |
Schwachmann-Diamond_Syndrome |
| Preferred_Name |
Shwachman-Diamond Syndrome |
| prefixIRI |
Thesaurus:C61235 |
| prefLabel |
Shwachman-Diamond Syndrome |
| Related_To_Genetic_Biomarker | |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0272170 |
| subClassOf |