Mitochondrial DNA depletion syndromes

ICD-11 code : 5C53.20;

Preferred Label : Mitochondrial DNA depletion syndromes;

ICD-11 definition : The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form.;

ICD-11 synonym : mtDNA depletion syndrome;

Details

Origin ID

1159345506;

UMLS CUI

C0342782;

Currated CISMeF NLP mapping
- Depletion of mitochondrial deoxyribonucleic acid (disorder) [SNOMED CT concept]
- Mitochondrial DNA Depletion Syndromes [NCIt concept]
- Mitochondrial DNA depletion [MedDRA Preferred Term]
- Mitochondrial DNA depletion syndrome [ORDO Disease]
- Mitochondrial dna depletion syndrome [OMIM phenotypic series]
- mitochondrial DNA depletion syndrome [Disease (Nov.)]
- mitochondrial DNA depletion syndrome [DO Concept]
ICD-10 Mapping
- Other specified metabolic disorders [ICD-10 Sub-category]
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 Syndromes [NCIt concept]
- Mitochondrial DNA depletion [MedDRA Preferred Term]
- Mitochondrial DNA depletion syndrome [ORDO Disease]
- mitochondrial DNA depletion syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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