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Autoimmune Registry’s List of Diseases

This document provides details on the list of diseases, including:

  1. How does a disease get onto the list?

  2. How are names, synonyms and subtypes determined?

  3. How is Evidence Category determined?

  4. Can I get this list with SNOMED codes for research?

Important Note: The information on our website is provided to facilitate and encourage, not replace, direct patient-health professional relationships.

How does a disease get onto this list?

This list of diseases contains every disease known or suspected of being autoimmune in scientific literature. The list has been compiled from numerous sources, including “The Autoimmune Diseases”, by Noel Rose & Ian Mackay, Fifth edition, which is the primary source for the list. We also use the National Library of Medicine (“PubMed”) to find papers that support classification.

Non-autoimmune conditions on the list

We also list a small number of diseases that are not autoimmune. These diseases are listed for one or all of the following reasons:

  1. There is no known mechanism of cause for the disease

  2. There are articles that discuss associations between the disease and known autoimmune diseases

  3. The “disease” is a symptom that is commonly associated with known autoimmune conditions. Secondary Raynaud’s phenomenon is an example. Since medical science still defines many diseases by symptoms alone rather than cause, it is sometimes difficult to separate symptoms from actual diseases.

Scientists and researchers using this list should not include these non-autoimmune diseases when doing research on “autoimmune diseases”. However, since the Autoimmune Registry is also a resource for patients, we will include them in our list until research reveals what causes the disease.

Also, it is important to note that a person who is diagnosed with a disease we describe as “not autoimmune” may have an autoimmune disease that has not yet been diagnosed. Our job is to assess whether a disease is caused by autoimmunity - we cannot evaluate whether a particular patient is suffering from an autoimmune disease. That requires a visit to a physician.

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What are disease names, synonyms and subtypes?

This is a complicated question, because autoimmune diseases are complicated. To illustrate the problem, we’re going to look at one of the most common autoimmune conditions: autoimmune thyroiditis.

Thyroiditis is defined as inflammation of the thyroid gland. In many cases this inflammation is caused by a malfunction of the immune system - that is, it is an autoimmune disease. But not every case of thyroiditis is caused by autoimmune disease; it can also be caused by the flu virus or strep bacterial infection. Therefore, “autoimmune thyroiditis” is a more precise definition that specifies thyroiditis caused by autoimmunity.

In autoimmune thyroiditis, when the immune system creates antibodies that attack specific cells, there are different types of cells that are attacked. In some cases, the antibodies destroy the cells that create the hormones that the thyroid gland normally creates. This leads to the low levels of those hormones that cause the disease. But in other cases, the antibodies attack the cells that control the production of those hormones. In these cases, the controls are broken and the thyroid gland produces too much of the hormones. The first type of thyroiditis is commonly called “Hashimoto’s disease”. The second type is called “Graves’ disease”.

A subtype is defined when a significant number of people with a disease have a specific symptom while others do not. For example, in the most common forms of autoimmune thyroiditis, the thyroid gland is attacked by the immune system. Some patients develop swollen thyroid glands, and are given a diagnosis of “Hashimoto’s disease” or “Hashimoto’s thyroiditis”. Other patients do not experience that swelling, and are given a diagnosis of “Ord’s thyroiditis”. Therefore, Ord’s thyroiditis is a subtype of autoimmune thyroiditis

Autoimmune diseases are difficult to diagnose and often appear different in different patients. The result is that many of these diseases are “discovered” more than one time, and consequently are named more than one time. Trying to piece together the diseases that are the same and those that are different is a challenge, and it is subject to debate because not everything in medicine is clear cut.

Notes:

  1. If disease has its own SNOMED Code, we classify it as a subtype.

  2. If a subtype has its own prevalence statistics, it will appear even when the “Hide Synonyms” is checked. Otherwise, synonyms and subtypes are hidden when that is checked.

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Evidence category for autoimmune diseases

A disease is a set of signs and symptoms that can be linked to a disease mechanism that takes place within the human body.

An autoimmune disease is when the body produces antibodies that attack healthy tissue. It is a failure of the adaptive immune system to tell the difference between an invading cell (such as a bacteria or virus) from its own tissue. If researchers have found the antibody that matches the tissue being destroyed, that represents strong evidence that the disease is autoimmune. If a disease has markers that indicate an immune process is involved, or there are autoantibodies but they do not match the tissue being destroyed, that represents moderate evidence that the disease is autoimmune.

As described above, not all of the diseases on the list are autoimmune. If a disease has no known cause but seems to share features common with autoimmune diseases, and autoimmunity is suspected in at least one scientific articles as a cause, or it is comorbid with confirmed autoimmune diseases, we call that an unconfirmed autoimmune disease. Symptoms that occur commonly among people with autoimmune disease are just symptoms, not diseases.

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Research

Supporting research on autoimmune diseases is our mission. To obtain a free copy of the list that includes codes from the Systematized Nomenclature Of Medicine (SNOMED) as well as other information, please contact us.

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