||
autosomaal dominante proximale spinale spieratrofie beginnend op volwassen leeftijd (aandoening)
autosomaal dominante proximale spinale spieratrofie beginnend op volwassen leeftijd
autosomaal dominante PSMA beginnend op volwassen leeftijd
autosomaal dominante proximale spinale musculaire atrofie beginnend op volwassen leeftijd
Autosomal dominant adult-onset proximal spinal muscular atrophy
SMAFK - spinal muscular atrophy Finkel type
Finkel disease
Autosomal dominant late-onset spinal muscular atrophy Finkel type
A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13.
Id784391002
StatusPrimitive
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG12.1
RuleTRUE
AdviceALWAYS G12.1
CorrelationSNOMED CT source code to target map code correlation not specified