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Items: 1 to 20 of 57

1.

Carbamazepine

a kind of epilepsy treatment drug [from CHV]

MedGen UID:
745
Concept ID:
C0006949
Organic Chemical; Pharmacologic Substance
2.

Stevens-Johnson syndrome

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end.SJS/TEN often begins with a fever and flu-like symptoms. Within a few days, the skin begins to blister and peel, forming very painful raw areas called erosions that resemble a severe hot-water burn. The skin erosions usually start on the face and chest before spreading to other parts of the body. In most affected individuals, the condition also damages the mucous membranes, including the lining of the mouth and the airways, which can cause trouble with swallowing and breathing. The painful blistering can also affect the urinary tract and genitals. SJS/TEN often affects the eyes as well, causing irritation and redness of the conjunctiva, which are the mucous membranes that protect the white part of the eye and line the eyelids, and damage to the clear front covering of the eye (the cornea).Severe damage to the skin and mucous membranes makes SJS/TEN a life-threatening disease. Because the skin normally acts as a protective barrier, extensive skin damage can lead to a dangerous loss of fluids and allow infections to develop. Serious complications can include pneumonia, overwhelming bacterial infections (sepsis), shock, multiple organ failure, and death. About 10 percent of people with Stevens-Johnson syndrome die from the disease, while the condition is fatal in up to 50 percent of those with toxic epidermal necrolysis.Among people who survive, long-term effects of SJS/TEN can include changes in skin coloring (pigmentation), dryness of the skin and mucous membranes (xerosis), excess sweating (hyperhidrosis), hair loss (alopecia), and abnormal growth or loss of the fingernails and toenails. Other long-term problems can include impaired taste, difficulty urinating, and genital abnormalities. A small percentage of affected individuals develop chronic dryness or inflammation of the eyes, which can lead to increased sensitivity to light (photophobia) and vision impairment.
[from GHR]

MedGen UID:
20955
Concept ID:
C0038325
Disease or Syndrome
3.

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]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

MedGen UID:
799640
Concept ID:
CN206174
Disease or Syndrome
5.

Mood stabilizing drug

MedGen UID:
700123
Concept ID:
C1276998
Pharmacologic Substance
6.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
7.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
8.

Error occurred: cannot get document summary

ID:
254858

9.

Thymus Epithelial Neoplasm

An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas. [from NCI]

MedGen UID:
220416
Concept ID:
C1266101
Neoplastic Process
10.

Error occurred: cannot get document summary

ID:
61377

11.

Schwartz Jampel syndrome type 1

Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. The muscle and bone abnormalities worsen in childhood, although most affected individuals have a normal lifespan. The specific features of Schwartz-Jampel syndrome vary widely.Myotonia involves continuous tensing (contraction) of muscles used for movement (skeletal muscles) throughout the body. This sustained muscle contraction causes stiffness that interferes with eating, sitting, walking, and other movements. Sustained contraction of muscles in the face leads to a fixed, "mask-like" facial expression with narrow eye openings (blepharophimosis) and pursed lips. This facial appearance is very specific to Schwartz-Jampel syndrome. Affected individuals may also be nearsighted and experience abnormal blinking or spasms of the eyelids (blepharospasm).Chondrodysplasia affects the development of the skeleton, particularly the long bones in the arms and legs and the bones of the hips. These bones are shortened and unusually wide at the ends, so affected individuals have short stature. The long bones may also be abnormally curved (bowed). Other bone abnormalities associated with Schwartz-Jampel syndrome include a protruding chest (pectus carinatum), abnormal curvature of the spine, flattened bones of the spine (platyspondyly), and joint abnormalities called contractures that further restrict movement.Researchers originally described two types of Schwartz-Jampel syndrome. Type 1 has the signs and symptoms described above, while type 2 has more severe bone abnormalities and other health problems and is usually life-threatening in early infancy. Researchers have since discovered that the condition they thought was Schwartz-Jampel syndrome type 2 is actually part of another disorder, Stüve-Wiedemann syndrome, which is caused by mutations in a different gene. They have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.
[from GHR]

MedGen UID:
19892
Concept ID:
C0036391
Congenital Abnormality; Disease or Syndrome
12.

Skin rash

A rash is an area of irritated or swollen skin. Many rashes are itchy, red, painful, and irritated. Some rashes can also lead to blisters or patches of raw skin. Rashes are a symptom of many different medical problems. Other causes include irritating substances and allergies. Certain genes can make people more likely to get rashes. Contact dermatitis is a common type of rash. It causes redness, itching, and sometimes small bumps. You get the rash where you have touched an irritant, such as a chemical, or something you are allergic to, like poison ivy. Some rashes develop right away. Others form over several days. Although most rashes clear up fairly quickly, others are long-lasting and need long-term treatment. Because rashes can be caused by many different things, it's important to figure out what kind you have before you treat it. If it is a bad rash, if it does not go away, or if you have other symptoms, you should see your health care provider. Treatments may include moisturizers, lotions, baths, cortisone creams that relieve swelling, and antihistamines, which relieve itching.  [from MedlinePlus]

MedGen UID:
8732
Concept ID:
C0015230
Finding; Sign or Symptom
13.

Pharmaceutical Preparations

You may need to take medicines every day, or only once in a while. Either way, you want to make sure that the medicines are safe and will help you get better. In the United States, the Food and Drug Administration is in charge of assuring the safety and effectiveness of both prescription and over-the-counter medicines. Even safe drugs can cause unwanted side effects or interactions with food or other medicines you may be taking. They may not be safe during pregnancy. To reduce the risk of reactions and make sure that you get better, it is important for you to take your medicines correctly and be careful when giving medicines to children.  [from MedlinePlus]

MedGen UID:
8496
Concept ID:
C0013227
Pharmacologic Substance
14.

Toxic epidermal necrolysis

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end.SJS/TEN often begins with a fever and flu-like symptoms. Within a few days, the skin begins to blister and peel, forming very painful raw areas called erosions that resemble a severe hot-water burn. The skin erosions usually start on the face and chest before spreading to other parts of the body. In most affected individuals, the condition also damages the mucous membranes, including the lining of the mouth and the airways, which can cause trouble with swallowing and breathing. The painful blistering can also affect the urinary tract and genitals. SJS/TEN often affects the eyes as well, causing irritation and redness of the conjunctiva, which are the mucous membranes that protect the white part of the eye and line the eyelids, and damage to the clear front covering of the eye (the cornea).Severe damage to the skin and mucous membranes makes SJS/TEN a life-threatening disease. Because the skin normally acts as a protective barrier, extensive skin damage can lead to a dangerous loss of fluids and allow infections to develop. Serious complications can include pneumonia, overwhelming bacterial infections (sepsis), shock, multiple organ failure, and death. About 10 percent of people with Stevens-Johnson syndrome die from the disease, while the condition is fatal in up to 50 percent of those with toxic epidermal necrolysis.Among people who survive, long-term effects of SJS/TEN can include changes in skin coloring (pigmentation), dryness of the skin and mucous membranes (xerosis), excess sweating (hyperhidrosis), hair loss (alopecia), and abnormal growth or loss of the fingernails and toenails. Other long-term problems can include impaired taste, difficulty urinating, and genital abnormalities. A small percentage of affected individuals develop chronic dryness or inflammation of the eyes, which can lead to increased sensitivity to light (photophobia) and vision impairment.
[from GHR]

MedGen UID:
4501
Concept ID:
C0014518
Disease or Syndrome
15.

Anticonvulsants

agent used to prevent seizures or reduce their severity. [from CRISP]

MedGen UID:
1972
Concept ID:
C0003286
Pharmacologic Substance
16.

Chemically-Induced Disorders

Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as PHARMACEUTICAL PREPARATIONS; NOXAE; and PESTICIDES. [from MeSH]

MedGen UID:
772538
Concept ID:
C3658339
Disease or Syndrome; Injury or Poisoning
17.

Epitol

MedGen UID:
152187
Concept ID:
C0700667
Organic Chemical; Pharmacologic Substance
18.

Amizepine

MedGen UID:
152186
Concept ID:
C0700666
Organic Chemical; Pharmacologic Substance
19.

Carbazepin

MedGen UID:
152185
Concept ID:
C0700665
Organic Chemical; Pharmacologic Substance
20.

Finlepsin

MedGen UID:
152184
Concept ID:
C0700664
Organic Chemical; Pharmacologic Substance
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