Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) | | 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. | | autosomaal recessieve spastische ataxie met leukencefalopathie | | SPAX3 autosomaal recessieve spastische ataxie type 3 autosomaal recessieve spastische ataxie met leuko-encefalopathie
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| Id | 784343003 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | G11.4 | Rule | TRUE | Advice | ALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | G93.4 | Rule | TRUE | Advice | ALWAYS G93.4 | Correlation | SNOMED CT source code to target map code correlation not specified |
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