Leber Hereditary Optic Atrophy

Preferred Label : Leber Hereditary Optic Atrophy;

NCIt definition : A hereditary disorder caused by mitochondrial mutations, resulting in the degeneration of the retinal ganglion cells and optic atrophy. It is characterized by an acute or subacute loss of central vision. It may initially affect one eye only, but eventually the central loss of vision becomes bilateral.;

Details

Origin ID

C84808;

UMLS CUI

C0917796;

Currated CISMeF NLP mapping
- Leber hereditary optic atrophy [Disease (Nov.)]
- Leber hereditary optic neuropathy [ORDO Disease]
- Leber hereditary optic neuropathy [ICD-11 More detail]
- Leber optic atrophy [OMIM Phenotype]
- Leber's hereditary optic atrophy neuropathy [MedDRA LLT]
- Leber's optic atrophy (disorder) [SNOMED CT concept]
- leber's optic atrophy [SNOMED Notion]
- optic atrophy, hereditary, leber [MeSH Descriptor]
- optic atrophy, hereditary, leber [MeSH concept]
DO Cross reference
- Leber hereditary optic neuropathy [DO Concept]
Has associated anatomic sites
- Eye [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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]
- optic atrophy, hereditary, leber [MeSH Descriptor]
- optic atrophy, hereditary, leber [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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