Autosomal recessive hereditary disorder
Blood coagulation disorder
Hereditary platelet function disorder
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Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder)
Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I
A rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematoma and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.
stollingsstoornis door deficiëntie van calcium- en diacylglycerol-gereguleerde 'guanine nucleotide exchange factor I'
bloedingsstoornis door CalDAG-GEFI-deficiëntie
Id725105006
StatusPrimitive
Has interpretationAbnormal
InterpretsHemostatic function
Finding siteBody system structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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