Mitochondrial DNA depletion syndrome, hepatocerebral form

Preferred Label : Mitochondrial DNA depletion syndrome, hepatocerebral form;

ICD-11 definition : This is the DNA located in organelles called mitochondria, structures within eukaryotic cells that convert the chemical energy from food into a form that cells can use, adenosine triphosphate (ATP). This diagnosis is the hepatocerebral form.;

Details

Origin ID

1285620325;

UMLS CUI

C3711385;

Currated CISMeF NLP mapping
- Mitochondrial DNA depletion syndrome, hepatocerebral form [ORDO Disease]
- deoxyguanosine kinase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial DNA depletion syndrome, hepatocerebral form [ORDO Disease]
- deoxyguanosine kinase deficiency [MeSH concept]
- deoxyguanosine kinase deficiency [MeSH Supplementary Concept]
- hepatocerebral form of mitochondrial DNA depletion syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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