SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1172901009
http://purl.bioontology.org/ontology/SNOMEDCT/1172901009
Preferred Name

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

Definitions
A rare genetic haematologic and intestinal disease characterised by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, haematuria and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcer. Mildly reduced levels of coagulation factor XI have been reported in addition. A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcer. Mildly reduced levels of coagulation factor XI have been reported in addition.
Synonyms
PLA2G4A-related platelet dysfunction
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (disorder)
PLA2G4A (phospholipase A2 group IVA) related platelet dysfunction
Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency
Type http://www.w3.org/2002/07/owl#Class
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