leigh disease - CISMeF

Preferred Label : leigh disease;

MeSH definition : A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).;

MeSH synonym : subacute necrotizing encephalomyelitides; necrotizing encephalomyelopathy, subacute; necrotizing encephalopathy, subacute; encephalopathy, subacute necrotizing; necrotizing encephalopathies, subacute; encephalomyelopathies, subacute necrotizing; encephalomyelitides, subacute necrotizing; subacute necrotizing encephalomyelitis; necrotizing encephalomyelitides, subacute; disease, leigh's; encephalomyelitis, subacute necrotizing; necrotizing encephalomyelitis, subacute; encephalopathies, subacute necrotizing; subacute necrotizing encephalopathies; leigh's disease; leighs disease; subacute necrotizing encephalopathy; encephalomyelopathy, subacute necrotizing; necrotizing encephalomyelopathies, subacute; subacute necrotizing encephalomyelopathies; subacute necrotizing encephalomyelopathy; leigh syndrome;

Wikipedia automatic translation : Leigh;

MeSH hyponym : encephalopathy, subacute necrotizing, juvenile; encephalopathy, subacute necrotizing, infantile; Subacute Necrotizing Encephalopathy, Juvenile; Leigh Disease, Juvenile; Juvenile Leigh Disease; Juvenile Subacute Necrotizing Encephalopathy; Subacute Necrotizing Encephalopathy, Infantile; Leigh Disease, Infantile; Subacute Necrotizing Encephalomyelitis, Infantile; Infantile Leigh Disease; Infantile Subacute Necrotizing Encephalopathy;

Wikipedia link : https://en.wikipedia.org/wiki/Leigh;

Details

Origin ID

D007888;

UMLS CUI

C0023264;

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]
Currated CISMeF NLP mapping
- Leigh Disease [NCIt concept]
- Leigh disease [PASCAL descriptor]
- Leigh disease [DO Concept]
- Leigh disease [Disease (Nov.)]
- Leigh disease [ACR pathology]
- Leigh syndrome [ICD-11 Sub-sub category]
- Leigh syndrome [ORDO Disease]
- Leigh syndrome [MedDRA LLT]
- Leigh syndrome, nuclear [OMIM Phenotype]
- Leigh's disease (disorder) [SNOMED CT concept]
- leigh's disease [SNOMED Notion]
DO Cross reference
- Leigh disease [DO Concept]
Indexing information
- Surf-1 protein [MeSH Supplementary Concept]
- pyruvate dehydrogenase E1alpha subunit [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Mitochondrial disease with eye involvement [ORDO Disease]
- Supranuclear eye movement disorder [ORDO Disease]
- Syndromic disorder with strabismus [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- Leigh syndrome [ORDO Disease]
Record concept(s)
- encephalopathy, subacute necrotizing, infantile [MeSH concept]
- encephalopathy, subacute necrotizing, juvenile [MeSH concept]
- leigh disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- CoQ-responsive OXPHOS deficiency [MeSH Supplementary Concept]
- leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency [MeSH Supplementary Concept]
- leigh syndrome , french canadian type [MeSH Supplementary Concept]
- leigh syndrome due to mitochondrial complex I deficiency [MeSH Supplementary Concept]
- leigh syndrome due to mitochondrial complex II deficiency [MeSH Supplementary Concept]
- leigh syndrome due to mitochondrial complex III deficiency [MeSH Supplementary Concept]
- leigh syndrome due to mitochondrial complex IV deficiency [MeSH Supplementary Concept]
- leigh syndrome due to mitochondrial complex V deficiency [MeSH Supplementary Concept]
- leigh syndrome, X-Linked [MeSH Supplementary Concept]
- maternally inherited leigh syndrome [MeSH Supplementary Concept]
- necrotizing encephalomyelopathy, subacute, of leigh, adult [MeSH Supplementary Concept]
- necrotizing encephalopathy, infantile subacute, of leigh [MeSH Supplementary Concept]
See also
- cytochrome-c oxidase deficiency [MeSH Descriptor]
- pyruvate dehydrogenase complex deficiency disease [MeSH Descriptor]
See also (suggested by CISMeF)
- electron transport complex IV [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leigh Disease [NCIt concept]
- Leigh disease [ACR pathology]
- Leigh disease [DO Concept]
- Leigh disease [PASCAL descriptor]
- Leigh disease [Disease (Nov.)]
- Leigh syndrome [ORDO Disease]
- Leigh syndrome [MedDRA LLT]
- Leigh syndrome [ICD-11 Sub-sub category]
- Leigh syndrome, nuclear [OMIM Phenotype]
- Leigh's disease (disorder) [SNOMED CT concept]
- leigh's disease [SNOMED Notion]

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