• 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. E75 Disorders of sphingolipid metabolism and other lipid storage disorders


    1. E75.0 GM2 gangliosidosis

      1. E75.00 GM2 gangliosidosis, unspecified

      2. E75.01 Sandhoff disease

      3. E75.02 Tay-Sachs disease

      4. E75.09 Other GM2 gangliosidosis

        Inclusion term(s):

        • Adult GM2 gangliosidosis
        • Juvenile GM2 gangliosidosis
    2. E75.1 Other and unspecified gangliosidosis

      1. E75.10 Unspecified gangliosidosis

        Inclusion term(s):

        • Gangliosidosis NOS
      2. E75.11 Mucolipidosis IV

      3. E75.19 Other gangliosidosis

        Inclusion term(s):

        • GM1 gangliosidosis
        • GM3 gangliosidosis
    3. E75.2 Other sphingolipidosis

      1. E75.21 Fabry (-Anderson) disease

      2. E75.22 Gaucher disease

      3. E75.23 Krabbe disease

      4. E75.24 Niemann-Pick disease

        Inclusion term(s):

        • Acid sphingomyelinase deficiency (ASMD)
        • E75.240 Niemann-Pick disease type A

          Inclusion term(s):

          • Acid sphingomyelinase deficiency type A (ASMD type A)
          • Infantile neurovisceral acid sphingomyelinase deficiency
        • E75.241 Niemann-Pick disease type B

          Inclusion term(s):

          • Acid sphingomyelinase deficiency type B (ASMD type B)
          • Chronic visceral acid sphingomyelinase deficiency
        • E75.242 Niemann-Pick disease type C
        • E75.243 Niemann-Pick disease type D
        • E75.244 Niemann-Pick disease type A/B

          Inclusion term(s):

          • Acid sphingomyelinase deficiency type A/B (ASMD type A/B)
          • Chronic neurovisceral acid sphingomyelinase deficiency
        • E75.248 Other Niemann-Pick disease
        • E75.249 Niemann-Pick disease, unspecified

          Inclusion term(s):

          • Acid sphingomyelinase deficiency (ASMD) NOS
      5. E75.25 Metachromatic leukodystrophy

      6. E75.26 Sulfatase deficiency

        Inclusion term(s):

        • Multiple sulfatase deficiency (MSD)
      7. E75.27 Pelizaeus-Merzbacher disease

      8. E75.28 Canavan disease

      9. E75.29 Other sphingolipidosis

        Inclusion term(s):

        • Farber's syndrome
        • Sulfatide lipidosis
    4. E75.3 Sphingolipidosis, unspecified

    5. E75.4 Neuronal ceroid lipofuscinosis

      Inclusion term(s):

      • Batten disease
      • Bielschowsky-Jansky disease
      • Kufs disease
      • Spielmeyer-Vogt disease
    6. E75.5 Other lipid storage disorders

      Inclusion term(s):

      • Cerebrotendinous cholesterosis [van Bogaert-Scherer-Epstein]
      • Wolman's disease
    7. E75.6 Lipid storage disorder, 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.