Multiple mitochondrial dysfunctions syndrome type 2   1208486005

SNOMED CT code


SNOMED code1208486005
nameMultiple mitochondrial dysfunctions syndrome type 2
statusactive
date introduced2022-03-31
fully specified name(s)Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
synonyms
  • Multiple mitochondrial dysfunctions syndrome type 2
  • MMDS2 - multiple mitochondrial dysfunctions syndrome type 2
  • BOLA3 (bolA family member 3) deficiency
attributes - group1
OccurrenceCongenital   255399007
attributes - group2
Finding siteBrain structure   12738006
Pathological processPathological developmental process   308490002
parents
  • Developmental and epileptic encephalopathy   1275631007
  • Inherited metabolic disorder of nervous system   128190004
  • Developmental hereditary disorder   363070008
  • Multiple mitochondrial dysfunctions syndrome   720827002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Neurodevelopmental disorder   700364009
          Developmental and epileptic encephalopathy   1275631007
            Multiple mitochondrial dysfunctions syndrome type 2   1208486005

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 2   1208486005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Multiple mitochondrial dysfunctions syndrome type 2   1208486005

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 2   1208486005

ancestors
sorted most to least specific
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