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syndroom van hypercoagulabiliteit door glycosylfosfatidylinositoldeficiëntie (aandoening)
syndroom van hypercoagulabiliteit door glycosylfosfatidylinositoldeficiëntie
syndroom van hypercoagulabiliteit door deficiëntie van glycosylfosfatidylinositol
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.
Id724344004
StatusPrimitive
Has interpretationafwijkend
Interpretshemostase
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified