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hemophagocytic syndrome

^ http://purl.obolibrary.org/obo/MONDO_0015540

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). [ Orphanet:158032 ]

Term info

database cross reference
  • UMLS:C3887558 (Orphanet:158032)
  • ICD9:288.8 (MONDO:relatedTo)
  • NCIT:C34792 (MONDO:equivalentTo)
  • DOID:0050120 (MONDO:equivalentTo)
  • Orphanet:158032 (MONDO:equivalentTo)
  • SCTID:234437005 (MONDO:equivalentTo)
  • GARD:0006589 (MONDO:equivalentTo)
  • NCIT:C35439 (MONDO:equivalentTo)
  • UMLS:C0024291 (Orphanet:158032/e)
  • MedDRA:10058125 (Orphanet:158032/e)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

abbreviation
HLH [ Orphanet:158032 GARD:0006589 ]

abbreviation
FHL [ GARD:0006589 ]

closeMatch

http://identifiers.org/meddra/10058125

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

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).

exactMatch

http://purl.obolibrary.org/obo/NCIT_C35439, http://identifiers.org/snomedct/234437005, http://linkedlifedata.com/resource/umls/id/C0024291, http://purl.obolibrary.org/obo/Orphanet_158032, http://linkedlifedata.com/resource/umls/id/C3887558, http://purl.obolibrary.org/obo/NCIT_C34792, http://purl.obolibrary.org/obo/DOID_0050120

has exact synonym

HLH, hemophagocytic syndrome, hemophagocytic lymphohistiocytosis

has related synonym

familial hemophagocytic lymphohistiocytosis, hemophagocytic disorder, familial erythrophagocytic lymphohistiocytosis, familial histiocytic reticulosis, haemophagocytic syndrome, FHL

id

MONDO:0015540

seeAlso

https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis