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hereditaire cerebrale hemorragie met amyloïdose (aandoening)
hereditaire cerebrale hemorragie met amyloïdose
HCHWA
Hereditary cerebral hemorrhage with amyloidosis
HCHWA - hereditary cerebral hemorrhage with amyloidosis
Describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Clinical features depend on the disease type. Most forms of HCHWA (Dutch, Arctic, Piedmont, Iowa, Flemish and Italian) are due to a point-mutation in the APP gene on chromosome 21q21.2, which encodes the beta-amyloid precursor protein. This mutation causes increased accumulation of amyloid-beta protein in the walls of cerebral arteries and capillaries. Only one form of HCHWA, Icelandic type, is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C.
Id724357007
StatusPrimitive
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetE85.4
RuleTRUE
AdviceALWAYS E85.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetI68.0
RuleTRUE
AdviceALWAYS I68.0 | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE
CorrelationSNOMED CT source code to target map code correlation not specified
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