Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder) | | Autosomal recessive cerebellar ataxia, psychomotor delay syndrome | | Autosomal recessive spinocerebellar ataxia type 11
| | A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32. | | syndroom van autosomaal recessieve cerebellaire ataxie en psychomotorische ontwikkelingsachterstand | | ARCA11 autosomaal recessieve spinocerebellaire ataxie type 11
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| Id | 783060009 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | 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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