| autosomaal recessieve spastische ataxie met leukencefalopathie (aandoening) | | autosomaal recessieve spastische ataxie met leukencefalopathie | | autosomaal recessieve spastische ataxie met leuko-encefalopathie
SPAX3
autosomaal recessieve spastische ataxie type 3
| | 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. |
| | Id | 784343003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G11.4 | | Term | Hereditaire spastische paraplegie |
| Target | G93.4 | | Term | Encefalopathie, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 314603 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | G11.4 | | Rule | TRUE | | Advice | ALWAYS G11.4 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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