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 ]
Synonyms: Hemophagocytic Lymphohistiocytosis HLH hemophagocytic syndrome hemophagocytic lymphohistiocytosis
Term information
- UMLS:C3887558 (MONDO:equivalentTo)
- MEDGEN:854411 (MONDO:equivalentTo)
- GARD:20024 (MONDO:GARD)
- ICD9:288.8 (MONDO:relatedTo)
- SCTID:234437005 (MONDO:equivalentTo)
- Orphanet:158032 (MONDO:equivalentTo)
- MedDRA:10058125 (Orphanet:158032/e)
- DOID:0050120 (MONDO:equivalentTo)
- NCIT:C35439 (MONDO:equivalentObsolete)
- NORD:1938 (MONDO:NORD)
- NANDO:2200032 (https://orcid.org/0000-0003-0011-764X)
- NCIT:C34792 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, disease_grouping, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, harrisons_view_immune_system_disorder, matrix_llm__tag_existing_treatment_other, nord_rare, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, mondo_top_grouping_immune_system_disorder, harrisons_view_member, harrisons_view_syndromic_disease, ordo_group_of_disorders, mondo_top_grouping_syndromic_disease
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
http://www.orpha.net/ORDO/Orphanet_158032
http://identifiers.org/snomedct/234437005
http://purl.obolibrary.org/obo/NCIT_C34792
http://linkedlifedata.com/resource/umls/id/C3887558
http://purl.obolibrary.org/obo/DOID_0050120
http://identifiers.org/medgen/854411
hemophagocytic disorder
familial hemophagocytic lymphohistiocytosis
familial erythrophagocytic lymphohistiocytosis
familial histiocytic reticulosis
haemophagocytic syndrome
FHL
Term relations
- [X] syndromic disease
- [X] lymphatic system disorder
- disease has feature some Pancytopenia
- disease arises from alteration in structure some macrophage
- disease has feature some Hepatosplenomegaly
- disease has feature some Lymphadenopathy