loading...| Preferred Name | Familial Hemophagocytic Lymphohistiocytosis | |
| Synonyms |
Hemophagocytic Syndrome Familial Hemophagocytic Lymphohistiocytosis Primary Hemophagocytic Lymphohistiocytosis FHLH fHLH |
|
| Definitions |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61276 |
|
| code |
C61276 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus CTRP |
|
| DEFINITION |
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. |
|
| Display_Name |
Primary Hemophagocytic Lymphohistiocytosis |
|
| FULL_SYN |
Hemophagocytic Syndrome Familial Hemophagocytic Lymphohistiocytosis Primary Hemophagocytic Lymphohistiocytosis FHLH fHLH |
|
| label |
Familial Hemophagocytic Lymphohistiocytosis |
|
| Legacy Concept Name |
Hemophagocytic_Syndrome Familiar_Hemophagocytic_Lymphohistiocytosis |
|
| Preferred_Name |
Familial Hemophagocytic Lymphohistiocytosis |
|
| prefixIRI |
Thesaurus:C61276 |
|
| Related_To_Genetic_Biomarker |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97739 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C114613 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0272199 C3887558 |
|
| subClassOf |