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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Congenital factor XI deficiency | |
| Synonyms |
Rosenthal syndrome Plasma thromboplastin antecedent deficiency Hemophilia C PTA deficiency Rosenthal factor deficiency |
|
| Definitions |
A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_329 |
|
| alternative_term |
Rosenthal syndrome Plasma thromboplastin antecedent deficiency Hemophilia C PTA deficiency Rosenthal factor deficiency
|
|
| definition |
A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.
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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=329 |
|
| has_age_of_onset |
All ages
|
|
| has_inheritance |
Autosomal recessive Autosomal dominant
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|
| hasDbXref |
MeSH:D005173 ICD-10:D68.1 OMIM:612416 UMLS:C0015523 ICD-11:3B13 MedDRA:10016082
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|
| label |
Congenital factor XI deficiency
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|
| notation |
ORPHA:329
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|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_329
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|
| prefLabel |
Congenital factor XI deficiency
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|
| present_in |
Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000
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| treeView | ||
| subClassOf |
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