autosomaal dominante spinale spieratrofie
|
syndroom van tweedemotorneuronziekte beginnend op late volwassen leeftijd (aandoening)
syndroom van tweedemotorneuronziekte beginnend op late volwassen leeftijd
syndroom van 'lower motor neuron disease'
LMND beginnend op late volwassen leeftijd
Lower motor neuron syndrome with late-adult onset
A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.
Id783618006
StatusPrimitive
Finding sitestructuur van systema nervosum
Occurrencevolwassenheid
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG12.1
TermOverige erfelijke vormen van spinale spieratrofie
SNOMED CT to Orphanet simple map276435
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