Severe X-linked mitochondrial encephalomyopathy   722212004

SNOMED CT code


SNOMED code722212004
nameSevere X-linked mitochondrial encephalomyopathy
statusactive
date introduced2017-01-31
fully specified name(s)Severe X-linked mitochondrial encephalomyopathy (disorder)
synonyms
  • Severe X-linked mitochondrial encephalomyopathy
  • Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6
  • Mitochondrial encephalomyopathy due to COXPD6 deficiency
attributes - group2
OccurrenceCongenital   255399007
attributes - group3
Finding siteBrain structure   12738006
Associated morphologyDegenerative abnormality   107669003
attributes - group1
Finding siteSkeletal muscle structure   127954009
parents
  • Hereditary degenerative disease of central nervous system   106018006
  • X-linked recessive hereditary disease   1162976004
  • Inherited metabolic disorder of nervous system   128190004
  • Disorder of mitochondrial respiratory chain complexes   237986005
  • Hereditary disorder of musculoskeletal system   363212003
  • Mitochondrial encephalomyopathy   447292006
  • Degenerative brain disorder   52522001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Hereditary degenerative disease of central nervous system   106018006
            Severe X-linked mitochondrial encephalomyopathy   722212004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                Severe X-linked mitochondrial encephalomyopathy   722212004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Severe X-linked mitochondrial encephalomyopathy   722212004

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
              Severe X-linked mitochondrial encephalomyopathy   722212004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Severe X-linked mitochondrial encephalomyopathy   722212004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          Mitochondrial encephalomyopathy   447292006
            Severe X-linked mitochondrial encephalomyopathy   722212004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Degenerative brain disorder   52522001
            Severe X-linked mitochondrial encephalomyopathy   722212004

ancestors
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