Combined oxidative phosphorylation defect type 39   1279845005

SNOMED CT code


SNOMED code1279845005
nameCombined oxidative phosphorylation defect type 39
statusactive
date introduced2023-04-30
fully specified name(s)Combined oxidative phosphorylation defect type 39 (disorder)
synonyms
  • Combined oxidative phosphorylation defect type 39
  • COXPD39 - combined oxidative phosphorylation defect type 39
  • GTP dependent ribosome recycling factor mitochondrial 2-related combined oxidative phosphorylation defect
  • GFM2-related combined oxidative phosphorylation defect
attributes - group3
Finding siteSkeletal muscle structure   127954009
attributes - group4
Pathological processPathological developmental process   308490002
attributes - group1
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group2
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
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 39   1279845005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Mitochondrial myopathy   16851005
            Combined oxidative phosphorylation defect type 39   1279845005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Combined oxidative phosphorylation defect type 39   1279845005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Combined oxidative phosphorylation defect type 39   1279845005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Combined oxidative phosphorylation defect type 39   1279845005

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 39   1279845005

ancestors
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