Combined oxidative phosphorylation defect type 23   1173036000

SNOMED CT code


SNOMED code1173036000
nameCombined oxidative phosphorylation defect type 23
statusactive
date introduced2021-09-30
fully specified name(s)Combined oxidative phosphorylation defect type 23 (disorder)
synonyms
  • Combined oxidative phosphorylation defect type 23
  • COXPD23 - combined oxidative phosphorylation defect type 23
attributes - group4
Due toMitochondrial cytopathy   240096000
attributes - group1
OccurrenceCongenital   255399007
attributes - group2
Finding siteNervous system structure   25087005
attributes - group3
Finding siteMyocardium structure   74281007
attributes - group5
Pathological processPathological developmental process   308490002
attributes - group6
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group7
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Inherited metabolic disorder of nervous system   128190004
  • Disorder of mitochondrial respiratory chain complexes   237986005
  • Mitochondrial cytopathy   240096000
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Mitochondrial cardiomyopathy   472315005
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Combined oxidative phosphorylation defect type 23   1173036000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Combined oxidative phosphorylation defect type 23   1173036000

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
              Combined oxidative phosphorylation defect type 23   1173036000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Combined oxidative phosphorylation defect type 23   1173036000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Combined oxidative phosphorylation defect type 23   1173036000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Combined oxidative phosphorylation defect type 23   1173036000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Cardiac complication   40172005
            Mitochondrial cardiomyopathy   472315005
              Combined oxidative phosphorylation defect type 23   1173036000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Combined oxidative phosphorylation defect type 23   1173036000

ancestors
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