Excludes1

  • androgen insensitivity syndrome (E34.5-)
  • congenital adrenal hyperplasia (E25.0)
  • Ehlers-Danlos syndrome (Q79.6-)
  • hemolytic anemias attributable to enzyme disorders (D55.-)
  • Marfan's syndrome (Q87.4)
  • 5-alpha-reductase deficiency (E29.1)
  1. E75 Disorders of sphingolipid metabolism and other lipid storage disorders

    Excludes1

    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

        • E75.240 Niemann-Pick disease type A
        • E75.241 Niemann-Pick disease type B
        • E75.242 Niemann-Pick disease type C
        • E75.243 Niemann-Pick disease type D
        • E75.248 Other Niemann-Pick disease
        • E75.249 Niemann-Pick disease, unspecified
      5. E75.25 Metachromatic leukodystrophy

      6. E75.26 Sulfatase deficiency

        Inclusion term(s):

        • Multiple sulfatase deficiency (MSD)
      7. 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.