| cerebellaire ataxie met oculomotorische apraxie type 4 (aandoening) | | cerebellaire ataxie met oculomotorische apraxie type 4 | | AOA4
| | Cerebellar ataxia with oculomotor apraxia type 4 | | AOA4 - ataxia, oculomotor apraxia type 4
| | A rare autosomal recessive cerebellar ataxia with characteristics of onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen. |
| | Id | 1217230002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 459033 |
| SNOMED CT to ICD-10 extended map | | Target | G60.2 | | Rule | TRUE | | Advice | ALWAYS G60.2 | 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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