loading...| Preferred Name |
hemophagocytic syndrome |
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| Synonyms |
FHL familial erythrophagocytic lymphohistiocytosis hemophagocytic disorder familial histiocytic reticulosis haemophagocytic syndrome familial hemophagocytic lymphohistiocytosis hemophagocytic syndrome HLH HPS hemophagocytic lymphohistiocytosis |
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| Definitions |
Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). Editor note: NCIT treats hemophagocytic syndrome and Hemophagocytic Lymphohistiocytosis as distinct; we merge here but this should be checked. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/19 |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0015540 |
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| comment |
Editor note: NCIT treats hemophagocytic syndrome and Hemophagocytic Lymphohistiocytosis as distinct; we merge here but this should be checked. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/19 |
|
| closeMatch | ||
| database_cross_reference |
NCIT:C34792 COHD:439789 UMLS:C3887558 Orphanet:158032 GARD:0006589 ICD9:288.8 NCIT:C35439 DOID:0050120 MedDRA:10058125 ICD10:D76.1 UMLS:C0024291 SCTID:234437005 |
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| disease arises from structure | ||
| disease has feature |
http://purl.obolibrary.org/obo/HP_0001433 |
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| exactMatch |
http://purl.obolibrary.org/obo/DOID_0050120 http://identifiers.org/snomedct/234437005 http://identifiers.org/meddra/10058125 http://purl.obolibrary.org/obo/NCIT_C35439 http://linkedlifedata.com/resource/umls/id/C3887558 http://www.orpha.net/ORDO/Orphanet_158032 |
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| has exact synonym |
hemophagocytic syndrome HLH HPS hemophagocytic lymphohistiocytosis |
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| has modifier | ||
| has related synonym |
FHL familial erythrophagocytic lymphohistiocytosis hemophagocytic disorder familial histiocytic reticulosis haemophagocytic syndrome familial hemophagocytic lymphohistiocytosis |
|
| id |
MONDO:0015540 |
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| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
hemophagocytic syndrome |
|
| notation |
MONDO:0015540 |
|
| prefLabel |
hemophagocytic syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis |
|
| textual definition |
Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). |
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| subClassOf |