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1.

Systemic lupus erythematosus

A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. [from HPO]

MedGen UID:
505336
Concept ID:
CN002475
Finding
2.

Lupus erythematosus

What is lupus? Lupus is an autoimmune disease. This means that your immune system attacks healthy cells and tissues by mistake. This can damage many parts of the body, including the joints, skin, kidneys, heart, lungs, blood vessels, and brain. There are several kinds of lupus. -Systemic lupus erythematosus (SLE) is the most common type. It can be mild or severe, and can affect many parts of the body. -Discoid lupus causes a red rash that doesn't go away. -Subacute cutaneous lupus causes sores after being out in the sun. -Drug-induced lupus is caused by certain medicines. It usually goes away when you stop taking the medicine. -Neonatal lupus, which is rare, affects newborns. It is probably caused by certain antibodies from the mother. Who gets lupus? Anyone can get lupus, but women are most at risk. Lupus is two to three times more common in African American women than in Caucasian women. It's also more common in Hispanic, Asian, and Native American women. African American and Hispanic women are more likely to have severe forms of lupus. What causes lupus? The cause of lupus is not known. What are the symptoms of lupus? Lupus can have many symptoms, and they differ from person to person. Some of the more common ones are. -Pain or swelling in joints. -Muscle pain. -Fever with no known cause. -Red rashes, most often on the face (also called the butterfly rash). -Chest pain when taking a deep breath. -Hair loss. -Pale or purple fingers or toes. -Sensitivity to the sun. -Swelling in legs or around eyes. -Mouth ulcers. -Swollen glands. -Feeling very tired. Symptoms may come and go. When you are having symptoms, it is called a flare. Flares can range from mild to severe. New symptoms may appear at any time. How do I know if I have lupus? There is no single test to diagnose lupus, and it's often mistaken for other diseases. So it may take months or years for a doctor to diagnose it. Your doctor may use many tools to make a diagnosis:. -Medical history. -Complete exam. -Blood tests. -Skin biopsy (looking at skin samples under a microscope). -Kidney biopsy (looking at tissue from your kidney under a microscope). What are the treatments for lupus? There is no cure for lupus, but medicines and lifestyle changes can help control it. People with lupus often need to see different doctors. You will have a primary care doctor and a rheumatologist (a doctor who specializes in the diseases of joints and muscles). Which other specialists you see depends on how lupus affects your body. For example, if lupus damages your heart or blood vessels, you would see a cardiologist. Your primary care doctor should coordinate care between your different health care providers and treat other problems as they come up. Your doctor will develop a treatment plan to fit your needs. You and your doctor should review the plan often to be sure it is working. You should report new symptoms to your doctor right away so that your treatment plan can be changed if needed. The goals of the treatment plan are to. -Prevent flares. -Treat flares when they occur. -Reduce organ damage and other problems. Treatments may include drugs to. -Reduce swelling and pain. -Prevent or reduce flares. -Help the immune system. -Reduce or prevent damage to joints. -Balance the hormones. Besides taking medicines for lupus, you may need to take medicines for problems that are related to lupus such as high cholesterol, high blood pressure, or infection. Alternative treatments are those that are not part of standard treatment. At this time, no research shows that alternative medicine can treat lupus. Some alternative or complementary approaches may help you cope or reduce some of the stress associated with living with a chronic illness. You should talk to your doctor before trying any alternative treatments. How can I cope with lupus? It is important to take an active role in your treatment. It helps to learn more about lupus - being able to spot the warning signs of a flare can help you prevent the flare or make the symptoms less severe. It is also important to find ways to cope with the stress of having lupus. Exercising and finding ways to relax may make it easier for you to cope. A good support system can also help. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases. [from MedlinePlus]

MedGen UID:
98043
Concept ID:
C0409974
Disease or Syndrome
3.

Multiple endocrine neoplasia

An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are three types recognized: type 1 (MEN 1), caused by inactivation of the tumor suppressor gene MEN-1, type 2A (MEN 2A), caused by mutation of the RET gene, and type 2B (MEN 2B) also caused by mutation of the RET gene. Patients with MEN 1 may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. Patients with MEN 2A develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia. Patients with MEN 2B develop medullary thyroid carcinomas and numerous neural defects including neuromas. [from NCI]

MedGen UID:
45036
Concept ID:
C0027662
Neoplastic Process
4.

Systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE. [from OMIM]

MedGen UID:
6146
Concept ID:
C0024141
Disease or Syndrome
5.

Subfertility, Male

MedGen UID:
452752
Concept ID:
C0848676
Sign or Symptom
6.

Subfertility, Female

MedGen UID:
452445
Concept ID:
C0341869
Disease or Syndrome
7.

Male sterility

MedGen UID:
182408
Concept ID:
C0917731
Finding
8.

Female sterility

MedGen UID:
181472
Concept ID:
C0917730
Finding
9.

Infertility

Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility. Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found. There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies. NIH: National Institute of Child Health and Human Development.  [from MedlinePlus]

MedGen UID:
43876
Concept ID:
C0021359
Finding; Pathologic Function
10.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
11.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
12.

Infertility

MedGen UID:
504598
Concept ID:
CN000737
Finding
13.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
14.

Abnormal

Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm. (NCI) [from NCI_CDISC]

MedGen UID:
59964
Concept ID:
C0205161
Finding
15.

Klinefelter syndrome, XXY

Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.Affected individuals typically have small testes that do not produce as much testosterone as usual. Testosterone is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility). Some affected individuals also have genital differences including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis).Older children and adults with Klinefelter syndrome tend to be taller than their peers. Compared with unaffected men, adults with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. Their chance of developing these disorders is similar to that of women in the general population.Children with Klinefelter syndrome may have learning disabilities and delayed speech and language development. They tend to be quiet, sensitive, and unassertive, but personality characteristics vary among affected individuals.
[from GHR]

MedGen UID:
44033
Concept ID:
C0022735
Disease or Syndrome
16.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
17.

Anomaly of sex chromosome

Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT. [from MeSH]

MedGen UID:
19948
Concept ID:
C0036868
Congenital Abnormality; Disease or Syndrome
18.

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
19.

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
20.

Connective tissue disorder

Connective tissue is the material inside your body that supports many of its parts. It is the cellular glue that gives your tissues their shape and helps keep them strong. It also helps some of your tissues do their work. Cartilage and fat are examples of connective tissue. . There are over 200 disorders that impact connective tissue. Some, like cellulitis, are the result of an infection. Injuries can cause connective tissue disorders, such as scars. Others, such as Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta, are genetic. Still others, like scleroderma, have no known cause. Each disorder has its own symptoms and needs different treatment. .  [from MedlinePlus]

MedGen UID:
1098
Concept ID:
C0009782
Disease or Syndrome
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