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1.

Addison disease

Addison disease (AD) is a chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI; see this term). [from ORDO]

MedGen UID:
798977
Concept ID:
CN206116
Disease or Syndrome
2.

Primary adrenal insufficiency

Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. [from HPO]

MedGen UID:
589758
Concept ID:
C0405580
Disease or Syndrome
3.

Addison disease

Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormones is disrupted, which affects many body systems.The signs and symptoms of autoimmune Addison disease can begin at any time, although they most commonly begin between ages 30 and 50. Common features of this condition include extreme tiredness (fatigue), nausea, decreased appetite, and weight loss. In addition, many affected individuals have low blood pressure (hypotension), which can lead to dizziness when standing up quickly; muscle cramps; and a craving for salty foods. A characteristic feature of autoimmune Addison disease is abnormally dark areas of skin (hyperpigmentation), especially in regions that experience a lot of friction, such as the armpits, elbows, knuckles, and palm creases. The lips and the inside lining of the mouth can also be unusually dark. Because of an imbalance of hormones involved in development of sexual characteristics, women with this condition may lose their underarm and pubic hair.Other signs and symptoms of autoimmune Addison disease include low levels of sugar (hypoglycemia) and sodium (hyponatremia) and high levels of potassium (hyperkalemia) in the blood. Affected individuals may also have a shortage of red blood cells (anemia) and an increase in the number of white blood cells (lymphocytosis), particularly those known as eosinophils (eosinophilia).Autoimmune Addison disease can lead to a life-threatening adrenal crisis, characterized by vomiting, abdominal pain, back or leg cramps, and severe hypotension leading to shock. The adrenal crisis is often triggered by a stressor, such as surgery, trauma, or infection.Individuals with autoimmune Addison disease or their family members can have another autoimmune disorder, most commonly autoimmune thyroid disease or type 1 diabetes.
[from GHR]

MedGen UID:
357032
Concept ID:
C1868690
Disease or Syndrome
4.

Autoimmune reaction

A specific humoral or cell-mediated immune response against autologous (self) antigens. An autoimmune process may produce or be caused by autoimmune disease and may be developmentally complex, not necessarily pathological, and possibly pervasive. [from NCI]

MedGen UID:
105217
Concept ID:
C0443146
Pathologic Function
5.

Primary adrenal insufficiency

Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones. A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands. Other causes include infections and cancer. Symptoms include. -Weight loss . -Muscle weakness . -Fatigue that gets worse over time . -Low blood pressure . -Patchy or dark skin . Lab tests can confirm that you have Addison disease. If you don't treat it, it can be fatal. You will need to take hormone pills for the rest of your life. If you have Addison disease, you should carry an emergency ID. It should say that you have the disease, list your medicines and say how much you need in an emergency. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
1324
Concept ID:
C0001403
Disease or Syndrome
6.

Iplex

MedGen UID:
306398
Concept ID:
C1697533
Amino Acid, Peptide, or Protein; Pharmacologic Substance
7.

Not detected

The presence of the specified component / analyte, organism or clinical sign could not be determined within the limit of detection of the performed test or procedure.  [from HL7]

MedGen UID:
617736
Concept ID:
C0442737
Finding
8.

Detected

The measurement of the specified component / analyte, organism or clinical sign above the limit of detection of the performed test or procedure.  [from HL7]

MedGen UID:
617726
Concept ID:
C0442726
Finding
9.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
10.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
11.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
12.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
13.

Disorder of immune system

Your immune system is a complex network of cells, tissues, and organs that work together to defend against germs. It helps your body to recognize these foreign invaders. Then its job is to keep them out, or if it can't, to find and destroy them. If your immune system cannot do its job, the results can be serious. Disorders of the immune system include. -Allergy and asthma - immune responses to substances that are usually not harmful. -Immune deficiency diseases - disorders in which the immune system is missing one or more of its parts. -Autoimmune diseases - diseases causing your immune system to attack your own body's cells and tissues by mistake. NIH: National Institute of Allergy and Infectious Diseases.  [from MedlinePlus]

MedGen UID:
5759
Concept ID:
C0021053
Disease or Syndrome
14.

Disorder of endocrine system

Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include. -Growth and development. -Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature . -Sexual function. -Reproduction. -Mood. If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.  [from MedlinePlus]

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
15.

Autoimmune disease

Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body. No one is sure what causes autoimmune diseases. They do tend to run in families. Women - particularly African-American, Hispanic-American, and Native-American women - have a higher risk for some autoimmune diseases. There are more than 80 types of autoimmune diseases, and some have similar symptoms. This makes it hard for your health care provider to know if you really have one of these diseases, and if so, which one. Getting a diagnosis can be frustrating and stressful. Often, the first symptoms are fatigue, muscle aches and a low fever. The classic sign of an autoimmune disease is inflammation, which can cause redness, heat, pain and swelling. The diseases may also have flare-ups, when they get worse, and remissions, when symptoms get better or disappear. Treatment depends on the disease, but in most cases one important goal is to reduce inflammation. Sometimes doctors prescribe corticosteroids or other drugs that reduce your immune response.  [from MedlinePlus]

MedGen UID:
2135
Concept ID:
C0004364
Disease or Syndrome
16.

Adrenal insufficiency

Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. [from HPO]

MedGen UID:
1351
Concept ID:
C0001623
Disease or Syndrome
17.

Abnormality of the adrenal glands

The adrenal glands are small glands located on top of each kidney. They produce hormones that you can't live without, including sex hormones and cortisol. Cortisol helps you respond to stress and has many other important functions. With adrenal gland disorders, your glands make too much or not enough hormones. In Cushing's syndrome, there's too much cortisol, while with Addison's disease, there is too little. Some people are born unable to make enough cortisol. Causes of adrenal gland disorders include. -Genetic mutations. -Tumors including pheochromocytomas. -Infections. -A problem in another gland, such as the pituitary, which helps to regulate the adrenal gland. -Certain medicines. Treatment depends on which problem you have. Surgery or medicines can treat many adrenal gland disorders. NIH: National Institute of Child Health and Human Development.  [from MedlinePlus]

MedGen UID:
155
Concept ID:
C0001621
Disease or Syndrome
18.

Decreased circulating cortisol level

Abnormally reduced concentration of cortisol in the blood. [from HPO]

MedGen UID:
322961
Concept ID:
C1836623
Finding
19.

Hypocortisolemia

A reduced concentration of cortisol in the blood. [from HPO]

MedGen UID:
318778
Concept ID:
C1833054
Finding; Finding
20.

Genetic chronic primary adrenal insufficiency

MedGen UID:
833192
Concept ID:
CN228913
Finding
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