3-methylglutaconic aciduria type 7   764860006

SNOMED CT code


SNOMED code764860006
name3-methylglutaconic aciduria type 7
statusactive
date introduced2018-07-31
fully specified name(s)3-methylglutaconic aciduria type 7 (disorder)
synonyms
  • MGA7 - 3-methylglutaconic aciduria type 7
  • 3-methylglutaconic aciduria type VII
  • 3-methylglutaconic aciduria type 7
  • 3-methylglutaconic aciduria, cataract, neurologic involvement, neutropenia syndrome
  • CLBP (ClpB homolog, mitochondrial AAA ATPase chaperonin) deficiency
parents
  • 3-Methylglutaconic aciduria   237950009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
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 7   764860006

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 7   764860006

ancestors
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