| neurodegeneratief syndroom van axonale sensomotorische neuropathie en opticusatrofie beginnend op zuigelingenleeftijd (aandoening) | | neurodegeneratief syndroom van axonale sensomotorische neuropathie en opticusatrofie beginnend op zuigelingenleeftijd | | neurodegeneratief syndroom van axonale sensomotorische neuropathie en atrofie van nervus opticus beginnend op zuigelingenleeftijd
| | Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome | | ANOAC (axonal neuropathy, optic atrophy, cognitive deficit) syndrome
Axonal neuropathy, optic atrophy, cognitive deficit syndrome
| | A rare neurologic disease with characteristics of axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. |
| | Id | 1260129000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 457205 |
| SNOMED CT to ICD-10 extended map | | Target | G60.8 | | Rule | TRUE | | Advice | ALWAYS G60.8 | 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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