• 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. E71 Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

    1. E71.0 Maple-syrup-urine disease

    2. E71.1 Other disorders of branched-chain amino-acid metabolism

      1. E71.11 Branched-chain organic acidurias

        • E71.110 Isovaleric acidemia
        • E71.111 3-methylglutaconic aciduria
        • E71.118 Other branched-chain organic acidurias
      2. E71.12 Disorders of propionate metabolism

        • E71.120 Methylmalonic acidemia
        • E71.121 Propionic acidemia
        • E71.128 Other disorders of propionate metabolism
      3. E71.19 Other disorders of branched-chain amino-acid metabolism

        Inclusion term(s):

        • Hyperleucine-isoleucinemia
        • Hypervalinemia
    3. E71.2 Disorder of branched-chain amino-acid metabolism, unspecified

    4. E71.3 Disorders of fatty-acid metabolism

      1. E71.30 Disorder of fatty-acid metabolism, unspecified

      2. E71.31 Disorders of fatty-acid oxidation

      3. E71.32 Disorders of ketone metabolism

      4. E71.39 Other disorders of fatty-acid metabolism

    5. E71.4 Disorders of carnitine metabolism

      1. E71.40 Disorder of carnitine metabolism, unspecified

      2. E71.41 Primary carnitine deficiency

      3. E71.42 Carnitine deficiency due to inborn errors of metabolism

      4. E71.43 Iatrogenic carnitine deficiency

        Inclusion term(s):

        • Carnitine deficiency due to hemodialysis
        • Carnitine deficiency due to Valproic acid therapy
      5. E71.44 Other secondary carnitine deficiency

        • E71.440 Ruvalcaba-Myhre-Smith syndrome
        • E71.448 Other secondary carnitine deficiency
    6. E71.5 Peroxisomal disorders

      1. E71.50 Peroxisomal disorder, unspecified

      2. E71.51 Disorders of peroxisome biogenesis

        Inclusion term(s):

        • Group 1 peroxisomal disorders
        • E71.510 Zellweger syndrome
        • E71.511 Neonatal adrenoleukodystrophy
        • E71.518 Other disorders of peroxisome biogenesis
      3. E71.52 X-linked adrenoleukodystrophy

        • E71.520 Childhood cerebral X-linked adrenoleukodystrophy
        • E71.521 Adolescent X-linked adrenoleukodystrophy
        • E71.522 Adrenomyeloneuropathy
        • E71.528 Other X-linked adrenoleukodystrophy

          Inclusion term(s):

          • Addison only phenotype adrenoleukodystrophy
          • Addison-Schilder adrenoleukodystrophy
        • E71.529 X-linked adrenoleukodystrophy, unspecified type
      4. E71.53 Other group 2 peroxisomal disorders

      5. E71.54 Other peroxisomal disorders

        • E71.540 Rhizomelic chondrodysplasia punctata
        • E71.541 Zellweger-like syndrome
        • E71.542 Other group 3 peroxisomal disorders
        • E71.548 Other peroxisomal disorders
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.