loading...| Preferred Name | Familial hemophagocytic lymphohistiocytosis | |
| Synonyms |
Familial HLH |
|
| Definitions |
Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_540 |
|
| alternative_term |
Familial HLH |
|
| definition |
Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=540 |
|
| has_age_of_onset |
Adolescent Infancy |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-11:4A01.23 OMIM:603552 OMIM:603553 OMIM:613101 OMIM:267700 OMIM:608898 ICD-10:D76.1 UMLS:C0272199 MedDRA:10070904 OMIM:618998 |
|
| label |
Familial hemophagocytic lymphohistiocytosis |
|
| notation |
ORPHA:540 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_102005 |
|
| prefixIRI |
ORDO:Orphanet_540 |
|
| prefLabel |
Familial hemophagocytic lymphohistiocytosis |
|
| present_in |
China AND has_annual_incidence_average_value : 0.104 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_102005 |
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| subClassOf |