• androgen insensitivity syndrome (E34.5-)
  • congenital adrenal hyperplasia (E25.0)
  • hemolytic anemias attributable to enzyme disorders (D55.-)
  • Marfan syndrome (Q87.4-)
  • 5-alpha-reductase deficiency (E29.1)


  • Ehlers-Danlos syndromes (Q79.6-)
  1. E72 Other disorders of amino-acid metabolism


    • disorders of:
    • aromatic amino-acid metabolism (E70.-)
    • branched-chain amino-acid metabolism (E71.0-E71.2)
    • fatty-acid metabolism (E71.3)
    • purine and pyrimidine metabolism (E79.-)
    • gout (M1A.-, M10.-)
    1. E72.0 Disorders of amino-acid transport

      1. E72.00 Disorders of amino-acid transport, unspecified

      2. E72.01 Cystinuria

      3. E72.02 Hartnup's disease

      4. E72.03 Lowe's syndrome

      5. E72.04 Cystinosis

        Inclusion term(s):

        • Fanconi (-de Toni) (-Debré) syndrome with cystinosis
      6. E72.09 Other disorders of amino-acid transport

        Inclusion term(s):

        • Fanconi (-de Toni) (-Debré) syndrome, unspecified
    2. E72.1 Disorders of sulfur-bearing amino-acid metabolism

      1. E72.10 Disorders of sulfur-bearing amino-acid metabolism, unspecified

      2. E72.11 Homocystinuria

        Inclusion term(s):

        • Cystathionine synthase deficiency
      3. E72.12 Methylenetetrahydrofolate reductase deficiency

      4. E72.19 Other disorders of sulfur-bearing amino-acid metabolism

        Inclusion term(s):

        • Cystathioninuria
        • Methioninemia
        • Sulfite oxidase deficiency
    3. E72.2 Disorders of urea cycle metabolism

      1. E72.20 Disorder of urea cycle metabolism, unspecified

        Inclusion term(s):

        • Hyperammonemia
      2. E72.21 Argininemia

      3. E72.22 Arginosuccinic aciduria

      4. E72.23 Citrullinemia

      5. E72.29 Other disorders of urea cycle metabolism

    4. E72.3 Disorders of lysine and hydroxylysine metabolism

      Inclusion term(s):

      • Glutaric aciduria NOS
      • Glutaric aciduria (type I)
      • Hydroxylysinemia
      • Hyperlysinemia
    5. E72.4 Disorders of ornithine metabolism

      Inclusion term(s):

      • Hyperammonemia-Hyperornithinemia-Homocitrullinemia syndrome
      • Ornithinemia (types I, II)
      • Ornithine transcarbamylase deficiency
    6. E72.5 Disorders of glycine metabolism

      1. E72.50 Disorder of glycine metabolism, unspecified

      2. E72.51 Non-ketotic hyperglycinemia

      3. E72.52 Trimethylaminuria

      4. E72.53 Primary hyperoxaluria

        Inclusion term(s):

        • Oxalosis
        • Oxaluria
      5. E72.59 Other disorders of glycine metabolism

        Inclusion term(s):

        • D-glycericacidemia
        • Hyperhydroxyprolinemia
        • Hyperprolinemia (types I, II)
        • Sarcosinemia
    7. E72.8 Other specified disorders of amino-acid metabolism

      1. E72.81 Disorders of gamma aminobutyric acid metabolism

        Inclusion term(s):

        • 4-hydroxybutyric aciduria
        • Disorders of GABA metabolism
        • GABA metabolic defect
        • GABA transaminase deficiency
        • GABA-T deficiency
        • Gamma-hydroxybutyric aciduria
        • SSADHD
        • Succinic semialdehyde dehydrogenase deficiency
      2. E72.89 Other specified disorders of amino-acid metabolism

        Inclusion term(s):

        • Disorders of beta-amino-acid metabolism
        • Disorders of gamma-glutamyl cycle
    8. E72.9 Disorder of amino-acid metabolism, unspecified

Abbreviations used here:

NEC Not elsewhere classifiable
This abbreviation in the Tabular List represents “other specified”. When a specific code is not available for a condition, the Tabular List includes an NEC entry under a code to identify the code as the “other specified” code.

NOS Not otherwise specified
This abbreviation is the equivalent of unspecified.