optic atrophy polyneuropathy deafness

Preferred Label : optic atrophy polyneuropathy deafness;

MeSH synonym : optic atrophy, neural deafness, and distal neurogenic amyotrophy; optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive; rosenberg chutorian syndrome; Charcot-Marie-Tooth disease, X-Linked recessive, 5; familial opticoacoustic nerve degeneration and polyneuropathy; optic atrophy, polyneuropathy, and deafness; optic atrophy, sensorineural hearing loss and polyneuropathy; Rosenberg-Chutorian syndrome; Charcot-Marie-Tooth neuropathy, X-Linked recessive, 5;

Details

Origin ID

C537129;

UMLS CUI

C1839566;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease X-linked recessive 5 [DO Concept]
- Charcot-marie-tooth disease, X-linked recessive, 5 [OMIM Phenotype]
- Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive [OMIM Phenotype]
MeSH term(s) associated for indexing
- hearing loss, central [MeSH Descriptor]
- muscular disorders, atrophic [MeSH Descriptor]
- optic atrophies, hereditary [MeSH Descriptor]
- polyneuropathies [MeSH Descriptor]
Record concept(s)
- Optic atrophy polyneuropathy deafness [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease X-linked recessive 5 [DO Concept]
- Charcot-marie-tooth disease, X-linked recessive, 5 [OMIM Phenotype]
- Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive [OMIM Phenotype]
- X-linked Charcot-Marie-Tooth disease type 5 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 5 [ICD-11 More detail]
- X-linked Charcot-Marie-Tooth disease type 5 (disorder) [SNOMED CT concept]

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