Deafness - optic atrophy syndrome

Preferred Label : Deafness - optic atrophy syndrome;

ICD-11 definition : Autosomal dominant optic atrophy and congenital deafness is a form of autosomal dominant optic atrophy, characterized by congenital severe deafness and progressive mid-life visual failure.;

ICD-11 synonym : Optic atrophy, deafness, ophthalmoplegia, myopathy; Autosomal dominant optic atrophy and congenital deafness;

Details

Origin ID

412176667;

Currated CISMeF NLP mapping
- Autosomal dominant optic atrophy and congenital deafness [ORDO Disease]
- Konigsmark Knox Hussels syndrome [MeSH concept]
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy [OMIM Phenotype]
- konigsmark knox hussels syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- optic atrophy, deafness, ophthalmoplegia, and myopathy [MeSH concept]
- optic atrophy, deafness, ophthalmoplegia, and myopathy [MeSH Supplementary Concept]

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