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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Severe hemophilia A | |
| Synonyms |
Severe congenital F8 deficiency Severe congenital factor VIII deficiency |
|
| Definitions |
A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_169802 |
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| alternative_term |
Severe congenital F8 deficiency Severe congenital factor VIII deficiency
|
|
| definition |
A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169802 |
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| has_age_of_onset |
Infancy Neonatal
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|
| has_inheritance |
X-linked recessive
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| hasDbXref |
OMIM:306700 UMLS:C0272322 ICD-11:3B10.0 ICD-10:D66
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|
| label |
Severe hemophilia A
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|
| notation |
ORPHA:169802 Clinical subtype
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_169802
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| prefLabel |
Severe hemophilia A
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|
| present_in |
Europe AND has_point_prevalence_average_value : 2.8 AND has_point_prevalence_range : 1-9 / 100 000
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| treeView | ||
| subClassOf |
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