MELAS Syndrome

Preferred Label : MELAS Syndrome;

NCIt related terms : MELAS; Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke;

NCIt definition : A rare progressive neurodegenerative disorder characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.;

Alternative definition : NICHD: A maternally inherited condition characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, caused by mutation(s) in one of several mitochondrial genes, most frequently the MT-TL1 gene, which encodes the mitochondrial transfer RNA for leucine.;

Details

Origin ID

C84885;

UMLS CUI

C0162671;

Currated CISMeF NLP mapping
- Juvenile myopathy, encephalopathy, lactic acidosis, stroke (disorder) [SNOMED CT concept]
- MELAS [ORDO Disease]
- MELAS syndrome [PASCAL descriptor]
- MELAS syndrome [DO Concept]
- MELAS syndrome [Disease (Nov.)]
- MELAS syndrome [MedDRA Preferred Term]
- MELAS syndrome [MeSH Descriptor]
- MELAS syndrome [MeSH concept]
- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes [MedDRA LLT]
- Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes [ICD-11 More detail]
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes [OMIM Phenotype]
- juvenile myopathy, encephalopathy, lactic acidosis and stroke [SNOMED Notion]
DO Cross reference
- MELAS syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juvenile myopathy, encephalopathy, lactic acidosis, stroke (disorder) [SNOMED CT concept]
- MELAS [ORDO Disease]
- MELAS syndrome [MedDRA Preferred Term]
- MELAS syndrome [MeSH Descriptor]
- MELAS syndrome [MeSH concept]
- MELAS syndrome [PASCAL descriptor]
- MELAS syndrome [DO Concept]
- MELAS syndrome [Disease (Nov.)]
- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes [MedDRA LLT]
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes [OMIM Phenotype]
- juvenile myopathy, encephalopathy, lactic acidosis and stroke [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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