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stollingsstoornis bij deficiëntie van cytosolisch fosfolipase A2-alfa (aandoening)
stollingsstoornis bij deficiëntie van cytosolisch fosfolipase A2-alfa
PLA2G4A-gerelateerde trombocytenfunctiestoornis
trombocytopathie bij cPLA2a-deficiëntie
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
PLA2G4A-related platelet dysfunction
Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency
PLA2G4A (phospholipase A2 group IVA) related platelet dysfunction
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.
Id1172901009
StatusPrimitive
Has interpretationafwijkend
Interpretshemostase
Clinical courserecidiverend
Associated morphologyulcus
Finding sitestructuur van tractus gastrointestinalis
SNOMED CT to Orphanet simple map477787
SNOMED CT to ICD-10 extended map
TargetD69.1
RuleTRUE
AdviceALWAYS D69.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified