optic atrophy, autosomal dominant

Preferred Label : optic atrophy, autosomal dominant;

MeSH definition : Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.;

MeSH synonym : dominant optic atrophy; optic atrophy type 1; optic atrophy, hereditary, autosomal dominant; optic atrophy, kjer type; dominant optic atrophies; optic atrophies, dominant; optic atrophy, dominant; autosomal dominant optic atrophy; optic atrophy 1; optic atrophy 1s; Kjer-Type optic atrophy; atrophies, Kjer-Type optic; atrophy, Kjer-Type optic; kjer type optic atrophy; Kjer-Type optic atrophies; optic atrophies, Kjer-Type; optic atrophy, Kjer-Type; optic atrophy, juvenile; atrophies, juvenile optic; atrophy, juvenile optic; juvenile optic atrophies; juvenile optic atrophy; optic atrophies, juvenile; kjer's optic atrophy; atrophy, kjer's optic; kjer optic atrophy; kjers optic atrophy; optic atrophy, kjer's; autosomal dominant optic atrophy kjer type;

Wikipedia link : https://en.wikipedia.org/wiki/Optic atrophy, autosomal dominant;

Details

Origin ID

D029241;

UMLS CUI

C0338508;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Autosomal-Dominant optic atrophy [ICD-11 More detail]
Currated CISMeF NLP mapping
- Autosomal Dominant Optic Atrophy [NCIt concept]
- Autosomal dominant optic atrophy [ORDO Disease]
- Autosomal dominant optic atrophy, classic form [ORDO Disease]
- Dominant hereditary optic atrophy (disorder) [SNOMED CT concept]
- Optic Atrophy 1 [NCIt concept]
- Optic atrophy 1 [OMIM Phenotype]
- autosomal dominant optic atrophy [Disease (Nov.)]
- dominant hereditary optic atrophy [SNOMED Notion]
- optic atrophy 1 [DO Concept]
ORDO relation(s)
- Autosomal dominant optic atrophy [ORDO Disease]
Record concept(s)
- optic atrophy, autosomal dominant [MeSH concept]
See also inter- (CISMeF)
- Autosomal dominant optic atrophy plus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant optic atrophy [ORDO Disease]
- Autosomal dominant optic atrophy classic form (disorder) [SNOMED CT concept]
- Autosomal dominant optic atrophy, classic form [ORDO Disease]
- Childhood-onset autosomal dominant optic atrophy [ICD-11 More detail]
- Optic Atrophy 1 [NCIt concept]
- Optic atrophy 1 [OMIM Phenotype]
- dominant hereditary optic atrophy [SNOMED Notion]
Validated automatic mappings to BTNT
- Autosomal dominant optic atrophy classic form (disorder) [SNOMED CT concept]
- Childhood-onset autosomal dominant optic atrophy [ICD-11 More detail]
- Childhood-onset autosomal dominant optic atrophy (disorder) [SNOMED CT concept]

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