optic atrophy, hereditary, leber

Preferred Label : optic atrophy, hereditary, leber;

MeSH definition : A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001));

MeSH synonym : optic atrophy, leber, hereditary; leber's hereditary optic atrophy; leber's optic atrophy; leber hereditary optic atrophy; leber disease; optic atrophy, leber type; diseases, leber's; leber hereditary optic neuropathy; leber optic atrophy; optic atrophy, leber; leber optic atrophy and dystonia; leber's hereditary optic neuropathy; leber's disease; disease, leber's; leber's diseases; lebers disease; leber's optic neuropathy; leber optic neuropathy; lebers optic neuropathy; neuropathy, leber's optic; optic neuropathy, leber's; hereditary optic neuroretinopathy; hereditary optic neuroretinopathies; neuroretinopathies, hereditary optic; neuroretinopathy, hereditary optic; optic neuroretinopathies, hereditary; optic neuroretinopathy, hereditary;

CISMeF synonym : lebers optic atrophy; optic atrophy, leber's;

Wikipedia link : https://en.wikipedia.org/wiki/Leber hereditary optic atrophy;

Details

Origin ID

D029242;

UMLS CUI

C0917796;

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)
- Leber congenital amaurosis [DO Concept]
- Leber hereditary optic neuropathy [DO Concept]
- Leber hereditary optic neuropathy and dystonia [DO Concept]
- Leber optic atrophy and dystonia [OMIM Phenotype]
- Psychogenic deafness (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Leber Hereditary Optic Atrophy [NCIt concept]
- Leber hereditary optic atrophy [Disease (Nov.)]
- Leber hereditary optic neuropathy [ICD-11 More detail]
- Leber hereditary optic neuropathy [ORDO Disease]
- Leber optic atrophy [HPO term]
- Leber optic atrophy [OMIM Phenotype]
- Leber optic neuropathy [PASCAL descriptor]
- Leber's hereditary optic atrophy neuropathy [MedDRA LLT]
- Leber's optic atrophy (disorder) [SNOMED CT concept]
- leber's optic atrophy [SNOMED Notion]
DO Cross reference
- Leber hereditary optic neuropathy [DO Concept]
HPO term
- Leber optic atrophy [HPO term]
Has phenotype(s) (HPO)
- Abnormality of cardiac conduction [HPO term]
- Muscle biopsy shows nonspecific myopathic changes [HPO term]
Manual BTNT mappings - CISMeF
- Leber plus disease [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Mitochondrial disease with dilated cardiomyopathy [ORDO Disease]
- Mitochondrial disease with eye involvement [ORDO Disease]
- Mitochondrial disease with hypertrophic cardiomyopathy [ORDO Disease]
Record concept(s)
- optic atrophy, hereditary, leber [MeSH concept]
Related MeSH Supplementary Concept(s)
- marsden syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber Hereditary Optic Atrophy [NCIt concept]
- Leber hereditary optic atrophy [Disease (Nov.)]
- Leber hereditary optic neuropathy [ORDO Disease]
- Leber hereditary optic neuropathy [DO Concept]
- Leber optic atrophy [OMIM Phenotype]
- Leber optic atrophy [HPO term]
- Leber's hereditary optic atrophy neuropathy [MedDRA LLT]
- Leber's optic atrophy (disorder) [SNOMED CT concept]
- leber's optic atrophy [SNOMED Notion]

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