Leigh Disease - CISMeF

Preferred Label : Leigh Disease;

NCIt synonyms : Leigh Syndrome;

NCIt related terms : Leigh's Disease;

NCIt definition : An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures.;

Codes from synonyms : G31.82;

Details

Origin ID

C84814;

UMLS CUI

C0023264;

Currated CISMeF NLP mapping
- Leigh disease [ACR pathology]
- Leigh disease [Disease (Nov.)]
- Leigh disease [PASCAL descriptor]
- Leigh disease [DO Concept]
- Leigh syndrome [MedDRA LLT]
- Leigh syndrome [OMIM Phenotype]
- Leigh syndrome [ICD-11 Sub-sub category]
- Leigh syndrome [ORDO Disease]
- Leigh's disease (disorder) [SNOMED CT concept]
- leigh disease [MeSH Descriptor]
- leigh disease [MeSH concept]
- leigh's disease [SNOMED Notion]
DO Cross reference
- Leigh disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leigh disease [ACR pathology]
- Leigh disease [PASCAL descriptor]
- Leigh disease [DO Concept]
- Leigh disease [Disease (Nov.)]
- Leigh syndrome [ORDO Disease]
- Leigh syndrome [MedDRA LLT]
- Leigh syndrome [OMIM Phenotype]
- Leigh syndrome [ICD-11 Sub-sub category]
- Leigh's disease (disorder) [SNOMED CT concept]
- leigh disease [MeSH concept]
- leigh disease [MeSH Descriptor]
- leigh's disease [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- mCode Elixhauser Dementia Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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