Autosomal dominant optic atrophy plus syndrome

Preferred Label : Autosomal dominant optic atrophy plus syndrome;

ICD-11 definition : Autosomal dominant optic atrophy plus syndrome is a form of autosomal dominant optic atrophy associating optic atrophy with other clinical manifestations such sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia.;

Définition CISMeF : Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.;

ICD-11 synonym : CMT6 - [Charcot-Marie-Tooth type 6]; Peripheral neuropathy and optic atrophy; HMSN6 - [Hereditary motor and sensory neuropathy type 6]; Hereditary motor and sensory neuropathy type 6; Hereditary Optic Neuropathy associated with hereditary polyneuropathies; Charcot-Marie-Tooth type 6;

ICD-11 acronym : CMT6; HMSN6;

Details

Origin ID

1149710475;

Automatic exact mappings (from CISMeF team)
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy [OMIM Phenotype]
Currated CISMeF NLP mapping
- Autosomal dominant optic atrophy plus syndrome [ORDO Disease]
- Autosomal dominant optic atrophy plus syndrome (disorder) [SNOMED CT concept]
- Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant [OMIM Phenotype]
- hagemoser weinstein bresnick syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Charcot-Marie-Tooth disease type 6 [DO Concept]
- Hagemoser Weinstein Bresnick syndrome [MeSH concept]
- Hereditary motor and sensory neuropathy type 6 [ORDO Disease]
- Neuropathy, hereditary motor and sensory, type via, with optic atrophy [OMIM Phenotype]
- hereditary motor and sensory neuropathy VI [MeSH Supplementary Concept]

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