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hereditair caverneus hemangioom van hersenen (aandoening)
hereditair caverneus hemangioom van hersenen
Hereditary cavernous hemangioma of brain
Familial cerebral cavernous malformation
A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance.
Id717003001
StatusDefined
Associated morphologycaverneus hemangioom
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ28.3
RuleTRUE
AdviceALWAYS Q28.3
CorrelationSNOMED CT source code to target map code correlation not specified