deoxyguanosine kinase deficiency

Preferred Label : deoxyguanosine kinase deficiency;

MeSH synonym : hepatocerebral mitochondrial dna depletion syndrome; mitochondrial dna depletion syndrome, hepatocerebral form; Dguok-Related mitochondrial dna depletion syndrome;

Is substance : O;

Details

Origin ID

C580039;

UMLS CUI

C3711385;

Automatic exact mappings (from CISMeF team)
- mitochondrial DNA depletion syndrome 3 [DO Concept]
Currated CISMeF NLP mapping
- Deoxyguanosine kinase deficiency [ICD-11 More detail]
- Mitochondrial DNA depletion syndrome, hepatocerebral form [ORDO Disease]
- Mitochondrial DNA depletion syndrome, hepatocerebral form [ICD-11 More detail]
- hepatocerebral form of mitochondrial DNA depletion syndrome [Disease (Nov.)]
DO Cross reference
- mitochondrial DNA depletion syndrome 3 [DO Concept]
MeSH term(s) associated for indexing
- mitochondrial diseases [MeSH Descriptor]
Record concept(s)
- deoxyguanosine kinase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deoxyguanosine kinase deficiency [ICD-11 More detail]
- Mitochondrial DNA depletion syndrome, hepatocerebral form [ORDO Disease]
- Mitochondrial DNA depletion syndrome, hepatocerebral form [ICD-11 More detail]
- hepatocerebral form of mitochondrial DNA depletion syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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