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autosomaal recessieve spastische ataxie met leukencefalopathie (aandoening)
autosomaal recessieve spastische ataxie met leukencefalopathie
SPAX3
autosomaal recessieve spastische ataxie type 3
autosomaal recessieve spastische ataxie met leuko-encefalopathie
Autosomal recessive spastic ataxia with leukoencephalopathy
ARSAL - autosomal recessive spastic ataxia with leukoencephalopathy
SPAX3 - autosomal recessive spastic ataxia type 3
Autosomal recessive spastic ataxia type 3
A rare genetic autosomal recessive spastic ataxia disease with characteristics of cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia and leukoencephalopathy. Caused by homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.
Id784343003
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG93.4
RuleTRUE
AdviceALWAYS G93.4
CorrelationSNOMED CT source code to target map code correlation not specified