SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Congenital disease  66091009

Inborn error of metabolism  86095007

Disorder of pyruvate metabolism and mitochondrial respiratory chain  237981000

Disorder of mitochondrial respiratory chain complexes  237986005

Deficiency in enzyme complexes of mitochondrial respiratory chain   237987001

SNOMED CT code


SNOMED code237987001
nameDeficiency in enzyme complexes of mitochondrial respiratory chain
statusactive
date introduced2002-01-31
fully specified name(s)Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)
synonymsDeficiency in enzyme complexes of mitochondrial respiratory chain
attributes - group1
OccurrenceCongenital   255399007
parents
  • Disorder of mitochondrial respiratory chain complexes   237986005
  • Enzymopathy   78548001
children
  • Combined complex deficiencies   237993009
  • Combined oxidative phosphorylation defect type 25   1173035001
  • Complex V deficiency   237992004  removed: 2019-01-31
  • Cytochrome c oxidase deficiency   237991006  removed: 2004-07-31
  • Cytochrome-c oxidase deficiency   67434000
  • Deficiency of cytochrome-b>5< reductase   124184009
  • Deficiency of NADPH-ferrihemoprotein reductase   124185005
  • Deficiency of NAPH cytochrome-c>2< reductase   124186006
  • Isolated ATP synthase deficiency   780820008
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency   771478008
  • Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency   237988006
  • Succinate-coenzyme Q reductase deficiency   237989003
  • Ubiquinone dehydrogenase deficiency   237990007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of pyruvate metabolism and mitochondrial respiratory chain   237981000
            Disorder of mitochondrial respiratory chain complexes   237986005
              Deficiency in enzyme complexes of mitochondrial respiratory chain   237987001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Deficiency in enzyme complexes of mitochondrial respiratory chain   237987001

ancestors
sorted most to least specific
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