Autosomal dominant hereditary disorder
Autosomal dominant hereditary spinal muscular atrophy
Chronic nervous system disorder
Spinal muscular atrophy
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Lower motor neuron syndrome with late-adult onset (disorder)
Lower motor neuron syndrome with late-adult onset
A rare genetic motor neuron disease with characteristics of 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 gait disturbances and impaired vibration sensation. There is evidence the disease is caused by heterozygous mutation in the CHCHD10 gene on chromosome 22q11.
syndroom van tweedemotorneuronziekte beginnend op late volwassen leeftijd
syndroom van 'lower motor neuron disease'
LMND beginnend op late volwassen leeftijd
Id783618006
StatusPrimitive
Finding siteStructure of nervous system
OccurrenceAdulthood
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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