| syndroom van autosomaal recessieve spinocerebellaire ataxie, blindheid en doofheid (aandoening) | | syndroom van autosomaal recessieve spinocerebellaire ataxie, blindheid en doofheid | | autosomaal recessieve spinocerebellaire ataxie type 3
SCAR3
syndroom van autosomaal recessieve SCA, blindheid en doofheid
| | Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome | | Autosomal recessive spinocerebellar ataxia type 3
Autosomal recessive spinocerebellar ataxia, blindness, hearing loss syndrome
SCAR3 - spinocerebellar ataxia autosomal recessive type 3
| | A rare autosomal recessive syndromic cerebellar ataxia with the association of early-onset cerebellar ataxia, hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy. |
| | Id | 1204415006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 95433 |
| SNOMED CT to ICD-10 extended map | | Target | G11.1 | | Rule | TRUE | | Advice | ALWAYS G11.1 | 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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