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 characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. |
| 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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