• 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. E78 Disorders of lipoprotein metabolism and other lipidemias


    1. E78.0 Pure hypercholesterolemia

      1. E78.00 Pure hypercholesterolemia, unspecified

        Inclusion term(s):

        • Fredrickson's hyperlipoproteinemia, type IIa
        • Hyperbetalipoproteinemia
        • Low-density-lipoprotein-type [LDL] hyperlipoproteinemia
        • (Pure) hypercholesterolemia NOS
      2. E78.01 Familial hypercholesterolemia

    2. E78.1 Pure hyperglyceridemia

      Inclusion term(s):

      • Elevated fasting triglycerides
      • Endogenous hyperglyceridemia
      • Fredrickson's hyperlipoproteinemia, type IV
      • Hyperlipidemia, group B
      • Hyperprebetalipoproteinemia
      • Very-low-density-lipoprotein-type [VLDL] hyperlipoproteinemia
    3. E78.2 Mixed hyperlipidemia

      Inclusion term(s):

      • Broad- or floating-betalipoproteinemia
      • Combined hyperlipidemia NOS
      • Elevated cholesterol with elevated triglycerides NEC
      • Fredrickson's hyperlipoproteinemia, type IIb or III
      • Hyperbetalipoproteinemia with prebetalipoproteinemia
      • Hypercholesteremia with endogenous hyperglyceridemia
      • Hyperlipidemia, group C
      • Tubo-eruptive xanthoma
      • Xanthoma tuberosum
    4. E78.3 Hyperchylomicronemia

      Inclusion term(s):

      • Chylomicron retention disease
      • Fredrickson's hyperlipoproteinemia, type I or V
      • Hyperlipidemia, group D
      • Mixed hyperglyceridemia
    5. E78.4 Other hyperlipidemia

      1. E78.41 Elevated Lipoprotein(a)

        Inclusion term(s):

        • Elevated Lp(a)
      2. E78.49 Other hyperlipidemia

        Inclusion term(s):

        • Familial combined hyperlipidemia
    6. E78.5 Hyperlipidemia, unspecified

    7. E78.6 Lipoprotein deficiency

      Inclusion term(s):

      • Abetalipoproteinemia
      • Depressed HDL cholesterol
      • High-density lipoprotein deficiency
      • Hypoalphalipoproteinemia
      • Hypobetalipoproteinemia (familial)
      • Lecithin cholesterol acyltransferase deficiency
      • Tangier disease
    8. E78.7 Disorders of bile acid and cholesterol metabolism

      1. E78.70 Disorder of bile acid and cholesterol metabolism, unspecified

      2. E78.71 Barth syndrome

      3. E78.72 Smith-Lemli-Opitz syndrome

      4. E78.79 Other disorders of bile acid and cholesterol metabolism

    9. E78.8 Other disorders of lipoprotein metabolism

      1. E78.81 Lipoid dermatoarthritis

      2. E78.89 Other lipoprotein metabolism disorders

    10. E78.9 Disorder of lipoprotein 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.