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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | von Willebrand Disease, Type 2M | |
| Synonyms |
von Willebrand Disease, Type 2M |
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| Definitions |
An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows decreased platelet adhesion without a deficiency of high molecular weight multimers; this functional defect is caused by mutations that disrupt VWF binding to platelets or to subendothelium. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131688 |
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| ALT_DEFINITION |
An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows decreased platelet adhesion without a deficiency of high molecular weight multimers; this functional defect is caused by mutations that disrupt VWF binding to platelets or to subendothelium.
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| code |
C131688
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| Concept_In_Subset | ||
| Contributing_Source |
NICHD
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| DEFINITION |
An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows decreased platelet adhesion without a deficiency of high molecular weight multimers; this functional defect is caused by mutations that disrupt VWF binding to platelets or to subendothelium.
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| FULL_SYN |
von Willebrand Disease, Type 2M
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| label |
von Willebrand Disease, Type 2M
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| Preferred_Name |
von Willebrand Disease, Type 2M
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| prefixIRI |
Thesaurus:C131688
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C1282974
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| subClassOf |
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