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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Von Willebrand disease type 2N | |
| Synonyms |
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| Definitions |
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, etc.). |
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| ID |
http://www.orpha.net/ORDO/Orphanet_166093 |
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| definition |
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, etc.).
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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=166093 |
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| has_inheritance |
Autosomal recessive
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| hasDbXref |
OMIM:613554 ICD-11:3B12 ICD-10:D68.0 UMLS:C1282975
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| label |
Von Willebrand disease type 2N
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| notation |
ORPHA:166093 Clinical subtype
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| prefixIRI |
ORDO:Orphanet_166093
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| prefLabel |
Von Willebrand disease type 2N
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| present_in |
Worldwide AND has_point_prevalence_range : Unknown
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| subClassOf |
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