3-methylglutaconic aciduria type 9   1222672002

SNOMED CT code


SNOMED code1222672002
name3-methylglutaconic aciduria type 9
statusactive
date introduced2022-05-31
fully specified name(s)3-methylglutaconic aciduria type 9 (disorder)
synonyms
  • 3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome
  • 3-methylglutaconic aciduria type 9
attributes - group1
Pathological processPathological developmental process   308490002
attributes - group2
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
parents
  • Global developmental delay   224958001
  • 3-Methylglutaconic aciduria   237950009
  • Developmental hereditary disorder   363070008
  • Severe mental retardation (I.Q. 20-34)   40700009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            3-methylglutaconic aciduria type 9   1222672002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Disorder of amino acid metabolism   44779003
            Disorder of amino acid and organic acid metabolism   237911005
              Disorder of branched-chain amino acid metabolism   116020001
                3-Methylglutaconic aciduria   237950009
                  3-methylglutaconic aciduria type 9   1222672002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          3-methylglutaconic aciduria type 9   1222672002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Severe mental retardation (I.Q. 20-34)   40700009
            3-methylglutaconic aciduria type 9   1222672002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              3-methylglutaconic aciduria type 9   1222672002

ancestors
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