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ABri-amyloïdose (aandoening)
ABri-amyloïdose
familiale dementie van Brits type
familiaire dementie van Brits type
ABri amyloidosis
Familial dementia British type
Familial British dementia with amyloid angiopathy
A rare neurodegenerative disease with characteristics of progressive cognitive impairment, spastic tetraparesis and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation. Caused by heterozygous mutation in the ITM2B gene on chromosome 13q14.
Id783161005
StatusPrimitive
Clinical courseprogressief
Has interpretationgestoord
Interpretscognitieve functie
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