Multiple mitochondrial dysfunctions syndrome type 6   1279891002

SNOMED CT code


SNOMED code1279891002
nameMultiple mitochondrial dysfunctions syndrome type 6
statusactive
date introduced2023-04-30
fully specified name(s)Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
synonyms
  • PMPCB (peptidase mitochondrial processing subunit beta) deficiency
  • PMPCB deficiency
  • Multiple mitochondrial dysfunctions syndrome type 6
attributes - group3
Clinical courseProgressive   255314001
attributes - group2
OccurrenceCongenital   255399007
attributes - group4
Pathological processPathological developmental process   308490002
attributes - group1
Finding siteBrain structure   12738006
Associated morphologyDegenerative abnormality   107669003
parents
  • Hereditary degenerative disease of central nervous system   106018006
  • Inherited metabolic disorder of nervous system   128190004
  • Chronic metabolic disorder   128289001
  • Developmental hereditary disorder   363070008
  • Degenerative brain disorder   52522001
  • Developmental regression   609225004
  • Multiple mitochondrial dysfunctions syndrome   720827002
  • Chronic brain syndrome   78689005
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
            Multiple mitochondrial dysfunctions syndrome type 6   1279891002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Multiple mitochondrial dysfunctions syndrome type 6   1279891002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic metabolic disorder   128289001
          Multiple mitochondrial dysfunctions syndrome type 6   1279891002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Multiple mitochondrial dysfunctions syndrome type 6   1279891002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Degenerative brain disorder   52522001
            Multiple mitochondrial dysfunctions syndrome type 6   1279891002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental regression   609225004
          Multiple mitochondrial dysfunctions syndrome type 6   1279891002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Multiple mitochondrial dysfunctions syndrome   720827002
                Multiple mitochondrial dysfunctions syndrome type 6   1279891002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Chronic brain syndrome   78689005
            Multiple mitochondrial dysfunctions syndrome type 6   1279891002

ancestors
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