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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.
Id1222649004
StatusPrimitive
Has interpretationverlaagd
Interpretsgehoorfunctie
Associated morphologyatrophia
Finding sitestructuur van nervus opticus
SNOMED CT to Orphanet simple map542585
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified