autosomaal dominante spinale spieratrofie
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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
Finkel disease
Autosomal dominant late-onset spinal muscular atrophy Finkel type
SMAFK - spinal muscular atrophy Finkel type
A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.
Id784391002
StatusPrimitive
Finding sitestructuur van systema nervosum
Occurrencevolwassenheid
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map209335
SNOMED CT to ICD-10 extended map
TargetG12.1
RuleTRUE
AdviceALWAYS G12.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified