Familial Hemophagocytic Lymphohistiocytosis

Preferred Label : Familial Hemophagocytic Lymphohistiocytosis;

NCIt synonyms : Familiar Hemophagocytic Lymphohistiocytosis; Primary Hemophagocytic Lymphohistiocytosis; Hemophagocytic Syndrome; fHLH;

NCIt 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.;

Détails

Origin ID

C61276;

UMLS CUI

C0272199;

Automatic exact mappings (from CISMeF team)
- Hemophagocytic lymphohistiocytosis, familial [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Familial haemophagocytic lymphohistiocytosis [ICD-11 More detail]
- Familial haemophagocytic lymphohistiocytosis [MedDRA Preferred Term]
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
- Familial hemophagocytic lymphohistiocytosis [MedDRA LLT]
- Familial hemophagocytic lymphohistiocytosis (disorder) [SNOMED CT concept]
- Familial histiocytic reticulosis [PASCAL descriptor]
- Hemophagocytic lymphohistiocytosis [ICD-10 Sub-category]
- Hemophagocytic lymphohistiocytosis, familial, 1 [OMIM Phenotype]
- Primary haemophagocytic lymphohistiocytosis [MedDRA LLT]
- Primary haemophagocytic lymphohistiocytosis [ICD-11 Sub-sub category]
- Primary hemophagocytic lymphohistiocytosis [ORDO Disease]
- Primary hemophagocytic lymphohistiocytosis [MedDRA LLT]
- familial hemophagocytic histiocytosis [SNOMED Notion]
- familial hemophagocytic lymphocytosis [MeSH concept]
- familial hemophagocytic lymphohistiocytosis 1 [DO Concept]
- lymphohistiocytosis, hemophagocytic [MeSH Descriptor]
Disease may have findings
- Fever [NCIt concept]
- Hepatomegaly [NCIt concept]
- Lymphadenopathy [NCIt concept]
- Pancytopenia [NCIt concept]
- Splenomegaly [NCIt concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial haemophagocytic lymphohistiocytosis [MedDRA Preferred Term]
- Familial haemophagocytic lymphohistiocytosis [ICD-11 More detail]
- Familial hemophagocytic lymphohistiocytosis [MedDRA LLT]
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
- Familial hemophagocytic lymphohistiocytosis (disorder) [SNOMED CT concept]
- Hemophagocytic lymphohistiocytosis, familial, 1 [OMIM Phenotype]
- Primary haemophagocytic lymphohistiocytosis [MedDRA LLT]
- Primary hemophagocytic lymphohistiocytosis [ORDO Disease]
- Primary hemophagocytic lymphohistiocytosis [MedDRA LLT]
- familial hemophagocytic histiocytosis [SNOMED Notion]
- familial hemophagocytic lymphocytosis [MeSH concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_abnormal_cell
- Atypical Histiocyte [NCIt concept]
disease_has_finding
- Hemophagocytosis [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Histiocytosis [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
- Histiocyte [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
related_to_genetic_biomarker
- PRF1 Gene [NCIt concept]
- STX11 Gene [NCIt concept]
- STXBP2 Gene [NCIt concept]
- UNC13D Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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