syndroom van auditieve neuropathie en opticusatrofie (aandoening) | | syndroom van auditieve neuropathie en opticusatrofie | | syndroom van auditieve neuropathie en atrofie van oogzenuw syndroom van auditieve neuropathie en atrofie van nervus opticus
| | Auditory neuropathy, optic atrophy syndrome | | A rare mitochondrial disease with characteristics of bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association. |
| Id | 1222649004 | Status | Primitive |
SNOMED CT to Orphanet simple map | 542585 |
SNOMED CT to ICD-10 extended map | Target | E88.8 | Rule | TRUE | Advice | ALWAYS E88.8 | 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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