SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Metabolic disease  75934005

Enzymopathy  78548001

Specific enzyme deficiency  129456006

Deficiency of NADH dehydrogenase (ubiquinon)  124189004

Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency   237988006

SNOMED CT code


SNOMED code237988006
nameNicotinamide adenine dinucleotide coenzyme Q reductase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (disorder)
synonyms
  • Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
  • Complex I deficiency
  • NADH - Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
  • Mitochondrial complex I deficiency
attributes - group3
Finding siteNervous system structure   25087005
attributes - group2
Finding siteSkeletal muscle structure   127954009
attributes - group1
OccurrenceCongenital   255399007
parents
  • Deficiency of NADH dehydrogenase (ubiquinon)   124189004
  • Inherited metabolic disorder of nervous system   128190004
  • Mitochondrial myopathy   16851005
  • Deficiency in enzyme complexes of mitochondrial respiratory chain   237987001
  • Hereditary disorder of musculoskeletal system   363212003
children
  • Mitochondrial respiratory chain complex I assembly gene defect   1196948002
  • Mitochondrial respiratory chain complex I structural subunit gene defect   1196872006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006
            Deficiency of NADH dehydrogenase (ubiquinon)   124189004
              Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency   237988006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency   237988006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Mitochondrial myopathy   16851005
            Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency   237988006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Deficiency in enzyme complexes of mitochondrial respiratory chain   237987001
            Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency   237988006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency   237988006

ancestors
sorted most to least specific
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