P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. [ Orphanet : 36355 ]
Term information
- GARD:0012478 (MONDO:equivalentTo)
- SCTID:725291001 (MONDO:equivalentTo)
- DOID:0060692 (MONDO:equivalentTo)
- MESH:C565220 (MONDO:equivalentTo)
- Orphanet:36355 (OMIM:609821)
- OMIM:609821 (Orphanet:36355/e)
- UMLS:C1853278 (Orphanet:36355)
ordo_disease
- P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.
- http://identifiers.org/snomedct/725291001
- http://linkedlifedata.com/resource/umls/id/C1853278
- http://identifiers.org/mesh/C565220
- https://omim.org/entry/609821
- http://purl.obolibrary.org/obo/DOID_0060692
- http://www.orpha.net/ORDO/Orphanet_36355
- ADP platelet receptor P2Y12 defect
- P2Y12 defect
- platelet-type bleeding disorder 8
- bleeding disorder, platelet-type 8
- bleeding disorder, platelet-type, 8
- BDPLT8
- bleeding disorder due to P2Rx1 defect, somatic
- bleeding disorder due to P2Ry12 defect
- MONDO:0012354