• 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. E70 Disorders of aromatic amino-acid metabolism

    1. E70.0 Classical phenylketonuria

    2. E70.1 Other hyperphenylalaninemias

    3. E70.2 Disorders of tyrosine metabolism

      1. E70.20 Disorder of tyrosine metabolism, unspecified

      2. E70.21 Tyrosinemia

        Inclusion term(s):

        • Hypertyrosinemia
      3. E70.29 Other disorders of tyrosine metabolism

        Inclusion term(s):

        • Alkaptonuria
        • Ochronosis
    4. E70.3 Albinism

      1. E70.30 Albinism, unspecified

      2. E70.31 Ocular albinism

        • E70.310 X-linked ocular albinism
        • E70.311 Autosomal recessive ocular albinism
        • E70.318 Other ocular albinism
        • E70.319 Ocular albinism, unspecified
      3. E70.32 Oculocutaneous albinism

      4. E70.33 Albinism with hematologic abnormality

        • E70.330 Chediak-Higashi syndrome
        • E70.331 Hermansky-Pudlak syndrome
        • E70.338 Other albinism with hematologic abnormality
        • E70.339 Albinism with hematologic abnormality, unspecified
      5. E70.39 Other specified albinism

        Inclusion term(s):

        • Piebaldism
    5. E70.4 Disorders of histidine metabolism

      1. E70.40 Disorders of histidine metabolism, unspecified

      2. E70.41 Histidinemia

      3. E70.49 Other disorders of histidine metabolism

    6. E70.5 Disorders of tryptophan metabolism

    7. E70.8 Other disorders of aromatic amino-acid metabolism

      1. E70.81 Aromatic L-amino acid decarboxylase deficiency

        Inclusion term(s):

        • AADC deficiency
      2. E70.89 Other disorders of aromatic amino-acid metabolism

    8. E70.9 Disorder of aromatic 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.