Autosomal recessive hereditary disorder
Disorder of glycoprotein metabolism
Hereditary thrombophilia
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Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.
syndroom van hypercoagulabiliteit door glycosylfosfatidylinositoldeficiëntie
syndroom van hypercoagulabiliteit door deficiëntie van glycosylfosfatidylinositol
Id724344004
StatusPrimitive
OccurrenceCongenital
Has interpretationAbnormal
InterpretsHemostatic function
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified