Shwachman-Diamond syndrome

Preferred Label : Shwachman-Diamond syndrome;

ICD-11 definition : Shwachman-Diamond syndrome is defined by the association of a central hematological defect (neutropenia, thrombocytopenia and anemia that may progress to bone marrow aplasia), with a malformation syndrome and lipomatosis of the pancreas resulting in external pancreatic insufficiency.;

ICD-11 synonym : Congenital lipomatosis of pancreas;

Details

Origin ID

232885463;

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 [MeSH Descriptor]
- Shwachman-Diamond Syndrome [MeSH concept]
- Shwachman-Diamond syndrome [DO Concept]
- Shwachman-Diamond syndrome [MedDRA Preferred Term]
- Shwachman-Diamond syndrome [PASCAL descriptor]
- Shwachman-Diamond syndrome [ORDO Disease]
- Shwachman-diamond syndrome 1 [OMIM Phenotype]
- shwachman syndrome [SNOMED Notion]

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