Mitochondrial DNA Depletion Syndromes

Preferred Label : Mitochondrial DNA Depletion Syndromes;

NCIt definition : A genetically heterogenous group of disorders characterized by low mitochondrial DNA in specific tissues resulting in impaired energy production.;

NCI Metathesaurus CUI : CL1773352;

Details

Origin ID

C185235;

UMLS CUI

C0342782;

Currated CISMeF NLP mapping
- Mitochondrial DNA depletion syndrome [ORDO Disease]
- Mitochondrial DNA depletion syndromes [ICD-11 Sub-sub category]
- Mitochondrial dna depletion syndrome [OMIM phenotypic series]
- mitochondrial DNA depletion syndrome [DO Concept]
- mitochondrial DNA depletion syndrome [Disease (Nov.)]
See also inter- (CISMeF)
- Depletion of mitochondrial deoxyribonucleic acid (disorder) [SNOMED CT concept]
- Mitochondrial DNA depletion [MedDRA Preferred Term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Depletion of mitochondrial deoxyribonucleic acid (disorder) [SNOMED CT concept]
- Mitochondrial DNA depletion [MedDRA Preferred Term]
- Mitochondrial DNA depletion syndrome [ORDO Disease]
- Mitochondrial DNA depletion syndromes [ICD-11 Sub-sub category]
- mitochondrial DNA depletion syndrome [Disease (Nov.)]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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