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.
Associated morphologycaverneus hemangioom
Finding sitestructuur van encephalon
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige misvormingen van cerebrale vaten
SNOMED CT to Orphanet simple map221061
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q28.3
CorrelationSNOMED CT source code to target map code correlation not specified