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1.

Risk factor

Something that increases the chance of developing a disease. Some examples of risk factors for cancer are age, a family history of certain cancers, use of tobacco products, being exposed to radiation or certain chemicals, infection with certain viruses or bacteria, and certain genetic changes. [from NCI_NCI-GLOSS]

MedGen UID:
48477
Concept ID:
C0035648
Finding
2.

Migraine

Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. [from HPO]

MedGen UID:
505085
Concept ID:
CN001878
Finding
3.

Migraine

Migraine is the most common type of chronic, episodic headache, as summarized by Featherstone (1985). One locus for migraine with or without aura (MGR1) has been identified on chromosome 4q24. Other loci for migraine have been identified on 6p21.1-p12.2 (MGR3; 607498), 14q21.2-q22.3 (MGR4; 607501), 19p13 (MGR5; 607508), 1q31 (MGR6; 607516), 15q11-q13 (MGR7; 609179), 5q21 (with or without aura, MGR8, 609570; with aura, MGR9, 609670), 17p13 (MGR10; 610208), 18q12 (MGR11; 610209), 10q22-q23 (MGR12; 611706), and the X chromosome (MGR2; 300125). Mutation in the KCNK18 gene (613655) on chromosome 10q25 causes migraine with aura (MGR13; 613656). A subtype of autosomal dominant migraine with aura (MA), familial hemiplegic migraine (FHM; see 141500), is caused by mutation in the CACNA1A gene (601011) on chromosome 19p13 (FHM1; 141500), by mutation in the ATP1A2 gene (182340) on chromosome 1q21 (FHM2; 602481), or by mutation in the SCN1A gene (182389) on chromosome 2q24 (FHM3; 609634). Another locus for FHM has been mapped to chromosome 1q31 (FHM4; see 607516). There is evidence that a polymorphism in the estrogen receptor gene (ESR1; 133430.0005) and a polymorphism in the TNF gene (191160.0004) may confer susceptibility to migraine. A polymorphism in the endothelin receptor type A gene (EDNRA; 131243.0001) may confer resistance to migraine. [from OMIM]

MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
4.

Auras

Subjective ictal phenomena that, in a given patient, may precede observable seizures; if alone, constitute a if alone, constitute a simple partial seizure. [from HPO]

MedGen UID:
65921
Concept ID:
C0236018
Finding
5.

Stroke

A stroke is a medical emergency. Strokes happen when blood flow to your brain stops. Within minutes, brain cells begin to die. There are two kinds of stroke. The more common kind, called ischemic stroke, is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind, called hemorrhagic stroke, is caused by a blood vessel that breaks and bleeds into the brain. Mini-strokes or transient ischemic attacks (TIAs), occur when the blood supply to the brain is briefly interrupted. Symptoms of stroke are . -Sudden numbness or weakness of the face, arm or leg (especially on one side of the body). -Sudden confusion, trouble speaking or understanding speech. -Sudden trouble seeing in one or both eyes. -Sudden trouble walking, dizziness, loss of balance or coordination. -Sudden severe headache with no known cause. If you have any of these symptoms, you must get to a hospital quickly to begin treatment. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot or by stopping the bleeding. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Drug therapy with blood thinners is the most common treatment for stroke. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
6.

Myocardial infarction

Each year over a million people in the U.S. have a heart attack. About half of them die. Many people have permanent heart damage or die because they don't get help immediately. It's important to know the symptoms of a heart attack and call 9-1-1 if someone is having them. Those symptoms include. -Chest discomfort - pressure, squeezing, or pain . -Shortness of breath . -Discomfort in the upper body - arms, shoulder, neck, back . -Nausea, vomiting, dizziness, lightheadedness, sweating . These symptoms can sometimes be different in women. What exactly is a heart attack? Most heart attacks happen when a clot in the coronary artery blocks the supply of blood and oxygen to the heart. Often this leads to an irregular heartbeat - called an arrhythmia - that causes a severe decrease in the pumping function of the heart. A blockage that is not treated within a few hours causes the affected heart muscle to die. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
10150
Concept ID:
C0027051
Disease or Syndrome
7.

Infarct

tissue death caused by blocked blood circulation [from CHV]

MedGen UID:
9461
Concept ID:
C0021308
Pathologic Function
8.

CHD

MedGen UID:
893225
Concept ID:
CN238725
Finding
9.

Pressure

MedGen UID:
632176
Concept ID:
C0460139
Finding
10.

Ischemic stroke

MedGen UID:
505123
Concept ID:
CN001939
Finding
11.

Myocardial infarction

Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. [from HPO]

MedGen UID:
504896
Concept ID:
CN001509
Finding
12.

Abnormality of the cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
427888
Concept ID:
CN001481
Finding
13.

History of previous events

The aggregate of past events; the continuum of events occurring in succession leading from the past to the present; a record or narrative description of past events. [from NCI]

MedGen UID:
389153
Concept ID:
C2004062
Finding
14.

Stroke

MedGen UID:
340407
Concept ID:
C1849743
15.

Ischemic stroke

A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. Gunel and Lifton (1996) noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes. Bersano et al. (2008) reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; 612309), the renin-angiotensin-aldosterone system (see, e.g., ACE; 106180), homocysteine (see, e.g., MTHFR; 607093), and lipoprotein metabolism (see, e.g., APOE; 107741). See also hemorrhagic stroke, or intracerebral hemorrhage (ICH; 614519). [from OMIM]

MedGen UID:
215292
Concept ID:
C0948008
Disease or Syndrome
16.

Abnormality of the cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
116727
Concept ID:
C0243050
Disease or Syndrome
17.

History of

A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies. [from NCI]

MedGen UID:
82657
Concept ID:
C0262926
Finding
18.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
19.

Congenital heart disease

Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
[from GHR]

MedGen UID:
57501
Concept ID:
C0152021
Congenital Abnormality
20.

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
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