| autosomaal dominante spastische ataxie type 1 (aandoening) | | autosomaal dominante spastische ataxie type 1 | | Autosomal dominant spastic ataxia type 1 | | SPAX1 - autosomal dominant spastic ataxia type 1
| | A rare genetic autosomal dominant spastic ataxia disorder with characteristics of lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances. Caused by heterozygous mutation in the VAMP1 gene on chromosome 12p13. |
| | Id | 784380009 | | 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 | 251282 |
| SNOMED CT to ICD-10 extended map | | 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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