Mitochondrial DNA Variation

Preferred Label : Mitochondrial DNA Variation;

NCIt synonyms : mtDNA Mutation; Mitochondrial Mutation; Mitochondrial DNA Mutation;

NCIt related terms : MITOCHONDRIAL VARIATION;

NCIt definition : Any inheritable mutation that appears in mitochondrial DNA that is transmitted to the progeny with some frequency.;

Alternative definition : CDISC: Any inheritable variation that appears in mitochondrial DNA that is transmitted to the progeny with some frequency.;

Details

Origin ID

C181352;

UMLS CUI

C2315666;

Currated CISMeF NLP mapping
- Mitochondrial DNA mutation [MedDRA Preferred Term]
- Mitochondrial mutation (finding) [SNOMED CT concept]
Semantic type(s)
- Genetic Function [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial DNA mutation [MedDRA Preferred Term]
- Mitochondrial mutation (finding) [SNOMED CT concept]
concept_is_in_subset
- CDISC SDTM Genomic Inheritability Type Response Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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