hagemoser weinstein bresnick syndrome

Preferred Label : hagemoser weinstein bresnick syndrome;

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.;

MeSH synonym : optic atrophy, deafness and peripheral neuropathy; optic atrophy, hearing loss and peripheral neuropathy;

Details

Origin ID

C537626;

UMLS CUI

C2931553;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant optic atrophy [ORDO Disease]
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy [OMIM Phenotype]
Currated CISMeF NLP mapping
- Autosomal dominant optic atrophy plus syndrome [ICD-11 More detail]
- 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]
MeSH term(s) associated for indexing
- hearing loss, bilateral [MeSH Descriptor]
- hereditary sensory and motor neuropathy [MeSH Descriptor]
- optic atrophies, hereditary [MeSH Descriptor]
Record concept(s)
- Hagemoser Weinstein Bresnick syndrome [MeSH concept]
See also inter- (CISMeF)
- Autosomal dominant optic atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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