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syndroom van sensorische atactische neuropathie, dysartrie en oftalmoparese (aandoening)
syndroom van sensorische atactische neuropathie, dysartrie en oftalmoparese
syndroom van sensorische atactische neuropathie, dysartrie en oftalmoplegie
SANDO
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
SANDO (sensory ataxic neuropathy dysarthria ophthalmoparesis) syndrome
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.
Id717266001
StatusPrimitive
Occurrencevolwassenheid
Clinical courseprogressief
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map70595
SNOMED CT to ICD-10 extended map
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH49.4
RuleTRUE
AdviceALWAYS H49.4
CorrelationSNOMED CT source code to target map code correlation not specified