bleeding disorder due to P2RY12 defect

Preferred Label : bleeding disorder due to P2RY12 defect;

MeSH note : mutation in P2RY12;

Origin ID

C565220;

UMLS CUI

C1853278;

CISMeF manual mappings
- Bleeding disorder, platelet-type, 8 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Bleeding disorder due to P2Y12 defect [ORDO Disease]
- Defect of purinergic receptor p2y G protein-coupled 12 (disorder) [SNOMED CT concept]
- platelet-type bleeding disorder 8 [DO Concept]
MeSH term(s) associated for indexing
- blood coagulation disorders, inherited [MeSH Descriptor]
Record concept(s)
- bleeding disorder due to P2RY12 defect [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bleeding disorder due to P2Y12 defect [ORDO Disease]
- Bleeding disorder, platelet-type, 8 [OMIM Phenotype]
- platelet-type bleeding disorder 8 [DO Concept]