Multiple mitochondrial dysfunctions syndrome type 4   1208621008

SNOMED CT code


SNOMED code1208621008
nameMultiple mitochondrial dysfunctions syndrome type 4
statusactive
date introduced2022-03-31
fully specified name(s)Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
synonyms
  • Multiple mitochondrial dysfunctions syndrome type 4
  • MMDS4 - multiple mitochondrial dysfunctions syndrome type 4
attributes - group4
Clinical courseProgressive   255314001
attributes - group3
OccurrenceCongenital   255399007
attributes - group5
Finding siteOptic nerve structure   18234004
attributes - group1
Finding siteMyelinated nerve fiber structure   54115001
Associated morphologyMyelin sheath alteration   125495003
attributes - group2
Finding siteWhite matter structure of brain and spinal cord   389080008
Associated morphologyDystrophy   4720007
parents
  • Hereditary degenerative disease of central nervous system   106018006
  • Inherited metabolic disorder of nervous system   128190004
  • Chronic nervous system disorder   128283000
  • Chronic metabolic disorder   128289001
  • Leukodystrophy   192781003
  • Inherited optic neuropathy   312942003
  • Multiple mitochondrial dysfunctions syndrome   720827002
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 4   1208621008

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 4   1208621008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Multiple mitochondrial dysfunctions syndrome type 4   1208621008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic metabolic disorder   128289001
          Multiple mitochondrial dysfunctions syndrome type 4   1208621008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological lesion   299735001
      Leukodystrophy   192781003
        Multiple mitochondrial dysfunctions syndrome type 4   1208621008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Inherited optic neuropathy   312942003
            Multiple mitochondrial dysfunctions syndrome type 4   1208621008

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 4   1208621008

ancestors
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