Encephalomyopathic mitochondrial DNA depletion syndrome with renal tubulopathy

Preferred Label : Encephalomyopathic mitochondrial DNA depletion syndrome with renal tubulopathy;

ICD-11 definition : This is a form of encephalomyopathy that is associated with a mitochondrial disease. This diagnosis is with a disease affecting the renal tubules of the nephron.;

Details

Origin ID

802186282;

UMLS CUI

C2749861;

CISMeF manual mappings
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy) [OMIM Phenotype]
- Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder) [SNOMED CT concept]
- mitochondrial DNA depletion syndrome 8A [MeSH concept]
- mitochondrial DNA depletion syndrome 8a [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy [ORDO Disease]
- Mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy) [OMIM Phenotype]
- Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder) [SNOMED CT concept]

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