2-methyl-3-hydroxybutyric aciduria   791000124107

SNOMED CT code


SNOMED code791000124107
name2-methyl-3-hydroxybutyric aciduria
statusactive
date introduced2011-08-01
fully specified name(s)2-methyl-3-hydroxybutyric aciduria (disorder)
synonyms
  • 2-methyl-3-hydroxybutyric aciduria
  • HSD10 disease
attributes - group1
Clinical courseProgressive   255314001
attributes - group2
Finding siteCentral nervous system structure   21483005
parents
  • X-linked dominant hereditary disease   1162984000
  • Deficiency of dehydrogenase   124226002
  • Chronic nervous system disorder   128283000
  • Chronic metabolic disorder   128289001
  • Disorder of the central nervous system   23853001
  • Hereditary disorder of nervous system   363235000
  • Disorder of isoleucine metabolism   444755001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked dominant hereditary disease   1162984000
                2-methyl-3-hydroxybutyric aciduria   791000124107

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006
            Deficiency of dehydrogenase   124226002
              2-methyl-3-hydroxybutyric aciduria   791000124107

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          2-methyl-3-hydroxybutyric aciduria   791000124107

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic metabolic disorder   128289001
          2-methyl-3-hydroxybutyric aciduria   791000124107

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        2-methyl-3-hydroxybutyric aciduria   791000124107

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            2-methyl-3-hydroxybutyric aciduria   791000124107

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
                Disorder of isoleucine metabolism   444755001
                  2-methyl-3-hydroxybutyric aciduria   791000124107

ancestors
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