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  2. Gaucher's disease - Wikipedia

    en.wikipedia.org/wiki/Gaucher's_disease

    Around one in 100 people in the general US population is a carrier for type I Gaucher's disease, giving a prevalence of one in 40,000. [40] Among Ashkenazi Jews, the rate of carriers is considerably higher, at roughly one in 15. [40] Type II Gaucher's disease shows no particular preference for any ethnic group. [citation needed]

  3. Lipid storage disorder - Wikipedia

    en.wikipedia.org/wiki/Lipid_storage_disorder

    They are generally inherited in an autosomal recessive fashion, but Fabry disease is X-linked. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000. Enzyme replacement therapy is available mainly to treat Fabry disease and Gaucher disease and people with these types of sphingolipidoses may live well into adulthood ...

  4. Sphingolipidoses - Wikipedia

    en.wikipedia.org/wiki/Sphingolipidoses

    Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.

  5. GM2 gangliosidoses - Wikipedia

    en.wikipedia.org/wiki/GM2_gangliosidoses

    The diseases are better known by their individual names: Tay–Sachs disease, AB variant, and Sandhoff disease. Beta-hexosaminidase is a vital hydrolytic enzyme, found in the lysosomes, that breaks down lipids. When beta-hexosaminidase is no longer functioning properly, the lipids accumulate in the nervous tissue of the brain and cause problems.

  6. International Classification of Diseases - Wikipedia

    en.wikipedia.org/wiki/International...

    Adoption of ICD-10-CM was slow in the United States. Since 1979, the US had required ICD-9-CM codes [11] for Medicare and Medicaid claims, and most of the rest of the American medical industry followed suit. On 1 January 1999 the ICD-10 (without clinical extensions) was adopted for reporting mortality, but ICD-9-CM was still used for morbidity ...

  7. ICD-10 - Wikipedia

    en.wikipedia.org/wiki/ICD-10

    ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [ 1 ]

  8. Not otherwise specified - Wikipedia

    en.wikipedia.org/wiki/Not_Otherwise_Specified

    In medicine, not otherwise specified (NOS) is a subcategory in systems of disease/disorder classification such as ICD-9, ICD-10, or DSM-IV.It is generally used to note the presence of an illness where the symptoms presented were sufficient to make a general diagnosis, but where a specific diagnosis was not made.

  9. Glucocerebroside - Wikipedia

    en.wikipedia.org/wiki/Glucocerebroside

    In Gaucher's disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ceramide in the lysosome. [1] Affected macrophages, called Gaucher cells, have a distinct appearance similar to "wrinkled tissue paper" under light microscopy, because the substrates build-up within the lysosome.