Autosomal recessive hereditary disorder
Chronic nervous system disorder
Hereditary ataxia
Hereditary optic atrophy
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Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
A genetic neurodegenerative disease with normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.
syndroom van vroeg optredende progressieve neurodegeneratie, blindheid, ataxie en spasticiteit
Id771514002
StatusPrimitive
Associated morphologyPrimary atrophy
Finding siteOptic nerve structure
OccurrenceChildhood
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified