DiseaseID 848
噬血细胞综合征
disease
NCI2016_02D:A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D, and STX11 genes. It is characterized by histiocytic proliferation an
Relationship Network
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Disease: 1Symptom: 8Target: 24Links: 32
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 848
- Core Entity Id
- 952
- Source Entity Count
- 1
- Preferred Name
- Hemophagocytic Syndrome
- Name Cn
- 噬血细胞综合征
- Name Pinyin
- Shi Xue Xi Bao Zong He Zheng
- Name En
- Hemophagocytic Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Hemic and Lymphatic Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Hemic and Lymphatic Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D, and STX11 genes. It is characterized by histiocytic proliferation and phagocytosis. Patients present with fever, lymphadenopathy, and hepatosplenomegaly.|MSH2017_2016_08_12:Rare form of hemophagocytic lymphohistiocytosis with multiorgan involvement seen in infants and young children
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hemophagocytic Syndrome
Role
preferred
Name
Familial Hemophagocytic Lymphocytosis
Role
preferred
Name
Lymphohistiocytosis, Hemophagocytic
Role
preferred
Name
Hemophagocytic Lymphohistiocytosis, Familial, 1
Role
preferred
Name
Reactive Hemophagocytic Syndrome
Role
preferred
Name
Erythrophagocytic Lymphohistiocytosis, Familial
Role
alias
Name
Familial Hemophagocytic Lymphohistiocytosis 1
Role
alias
Name
Haemophagocytic Lymphohistiocytosis
Role
alias
Name
Haemophagocytic Syndrome, Infection-Associated
Role
alias
Name
Hemophagocytic Lymphohistiocytosis
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001315HBDIS001809HBDIS006736HBDIS022720HBDIS027217
Me Sh
D051359
Umls
C0024291C0272199
Icd10
D76.1D76.2
Sym Map
SMDE08640SMDE10607
Do Class
DOID:630DOID:7
Dis Ge Net
C0019068C0024291C0272199C3887558C4551514
Umls Sty
T047
Me Sh Class
C15
Etcm Disease
Hemophagocytic Lymphohistiocytosis, Familial, 1
Tcmbank Disease
154401595214532771332495
Itcmdb Generated
ITX-DISEASE-FAA2CB9FFCBE
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Hemophagocytic Lymphohistiocytosis, Familial, 1 Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
diseasephenotype
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Hemophagocytic Lymphohistiocytosis, Familial, 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases;Liver diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D, and STX11 genes. It is characterized by histiocytic proliferation and phagocytosis. Patients present with fever, lymphadenopathy, and hepatosplenomegaly.|MSH2017_2016_08_12:Rare form of hemophagocytic lymphohistiocytosis with multiorgan involvement seen in infants and young childrenNCI2016_NCI-GLOSS_1602D:A rare disorder in which histiocytes and lymphocytes (types of white blood cells) build up in organs including the skin, spleen, and liver, and destroy other blood cells. Hemophagocytic lymphohistiocytosis may be inherited or caused by certain conditions or diseases, including infections, immunodeficiency (inability of the body to fight infections), and cancer.|NCI2016_02D:A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.|MSH2017_2016_08_12:A group of related disorders characterized by LYMPHOCYTOSIS; HISTIOCYTOSIS; and hemophagocytosis. The two major forms are familial and reactive.
Me Sh Disease Class
Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome