loading...| Preferred Name | hemophagocytic syndrome | |
| Synonyms |
familial erythrophagocytic lymphohistiocytosis familial histiocytic reticulosis hemophagocytic disorder haemophagocytic syndrome familial hemophagocytic lymphohistiocytosis FHL hemophagocytic lymphohistiocytosis Hemophagocytic Lymphohistiocytosis hemophagocytic syndrome HLH |
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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). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015540 |
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| database_cross_reference |
SCTID:234437005 DOID:0050120 MEDGEN:854411 NCIT:C34792 MedDRA:10058125 NANDO:2200032 Orphanet:158032 NCIT:C35439 UMLS:C3887558 GARD:20024 ICD9:288.8 NORD:1938 |
|
| 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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| has_exact_synonym |
hemophagocytic lymphohistiocytosis Hemophagocytic Lymphohistiocytosis hemophagocytic syndrome HLH |
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| has_related_synonym |
familial erythrophagocytic lymphohistiocytosis familial histiocytic reticulosis hemophagocytic disorder haemophagocytic syndrome familial hemophagocytic lymphohistiocytosis FHL |
|
| id |
MONDO:0015540 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
hemophagocytic syndrome |
|
| notation |
MONDO:0015540 |
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| preferred label |
hemophagocytic syndrome |
|
| prefLabel |
hemophagocytic syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis |
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_0050120 http://identifiers.org/medgen/854411 http://identifiers.org/snomedct/234437005 http://linkedlifedata.com/resource/umls/id/C3887558 |
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| subClassOf |