Familial haemophagocytic lymphohistiocytosis

Preferred Label : Familial haemophagocytic lymphohistiocytosis;

ICD-11 definition : Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by a macrophage activation syndrome presenting with unexplained high fever, irritability, general pain, oedema and hepatosplenomegaly, usually occurring after a healthy period that may range from several months after the birth to, more rarely, several years.;

ICD-11 synonym : FEL - [familial erythrophagocytic lymphohistiocytosis]; familial histiocytic reticulosis; familial erythrophagocytic lymphohistiocytosis; FHL - [familial haemophagocytic lymphohistiocytosis]; familial haemophagocytic histiocytosis;

ICD-11 acronym : FHL; FEL;

ICD-11 inclusion : Perforin deficiency (FHL1); STXBP2 deficiency (FHL5); UNC13D deficiency (FHL3); Syntaxin deficiency (FHL4);

Details

Origin ID

950019605;

UMLS CUI

C0272199;

Currated CISMeF NLP mapping
- Familial Hemophagocytic Lymphohistiocytosis [NCIt concept]
- Familial haemophagocytic lymphohistiocytosis [MedDRA Preferred Term]
- Familial hemophagocytic lymphohistiocytosis [MedDRA LLT]
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
- Familial hemophagocytic lymphohistiocytosis (disorder) [SNOMED CT concept]
- Familial histiocytic reticulosis [PASCAL descriptor]
- 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]
False automatic mappings
- PLVAP wt Allele [NCIt concept]
- Psychogenic deafness (disorder) [SNOMED CT concept]
- plasmalemma vesicle associated protein [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hemophagocytic Lymphohistiocytosis [NCIt concept]
- Familial haemophagocytic lymphohistiocytosis [MedDRA Preferred Term]
- Familial hemophagocytic lymphohistiocytosis [MedDRA LLT]
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
- Familial hemophagocytic lymphohistiocytosis (disorder) [SNOMED CT concept]
- 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]
Validated automatic mappings to BTNT
- Hemophagocytic lymphohistiocytosis, familial, 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- lymphohistiocytosis, hemophagocytic [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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