| syndroom van autosomaal recessieve spastische ataxie, opticusatrofie en dysartrie (aandoening) | | syndroom van autosomaal recessieve spastische ataxie, opticusatrofie en dysartrie | | syndroom van autosomaal recessieve spastische ataxie, atrofie van nervus opticus en dysartrie
syndroom van autosomaal recessieve spastische ataxie, atrofie van oogzenuw en dysartrie
| | Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome | | SPAX 4 - autosomal recessive spastic ataxia type 4
Autosomal recessive spastic ataxia type 4
| | A rare genetic autosomal recessive spastic ataxia disease with characteristics of the onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Caused by homozygous mutation in the MTPAP gene on chromosome 10p11. |
| | Id | 784347002 | | 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 |
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| SNOMED CT to Orphanet simple map | 254343 |
| SNOMED CT to ICD-10 extended map | | 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 |
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