MELAS syndrome

Preferred Label : MELAS syndrome;

MeSH definition : A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117);

MeSH synonym : syndrome, melas; mitochondrial myopathy, lactic acidosis, stroke-like episode; mitochondrial myopathy, encephalopathy, lactic acidosis, and Stroke-Like episodes; mitochondrial encephalomyopathy, lactic acidosis, and Stroke-Like episodes; myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke; MELAS;

MeSH annotation : DF: MELAS;

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

Details

Origin ID

D017241;

UMLS CUI

C0162671;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [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
- Juvenile myopathy, encephalopathy, lactic acidosis, stroke (disorder) [SNOMED CT concept]
- MELAS [ORDO Disease]
- MELAS Syndrome [NCIt concept]
- MELAS syndrome [PASCAL descriptor]
- MELAS syndrome [DO Concept]
- MELAS syndrome [Disease (Nov.)]
- MELAS syndrome [MedDRA Preferred Term]
- 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]
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]
- Neurometabolic disease [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
ORDO relation(s)
- MELAS [ORDO Disease]
Record concept(s)
- MELAS syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- myopathy with lactic acidosis and sideroblastic anemia [MeSH Supplementary 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 [NCIt concept]
- MELAS syndrome [MedDRA Preferred Term]
- MELAS syndrome [DO Concept]
- MELAS syndrome [PASCAL descriptor]
- 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]

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