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Results: 1 to 20 of 33

1.

Left

Being or located on or directed toward the side of the body to the west when facing north. [from NCI]

MedGen UID:
104642
Concept ID:
C0205091
2.

Right

Being or located on or directed toward the side of the body to the east when facing north. [from NCI]

MedGen UID:
64371
Concept ID:
C0205090
3.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
4.

Congenital heart defects

MedGen UID:
490004
Concept ID:
CN169364
Disease or Syndrome
5.

Malformation of the heart and great vessels

Congenital malformation of the heart or great vessels (i.e., the large blood vesslesentering and leaving the heart: aorta, the pulmonary arteries and veins, and the superior and inferior vena cava). [from HPO]

MedGen UID:
428300
Concept ID:
CN002327
Finding
6.

Acyl-CoA thioester hydrolase, long-chain, 1

MedGen UID:
351308
Concept ID:
C1865144
7.

Disease Response

The pathologic and/or clinical changes that result from treatment. The changes may include eradication of detectable disease, stabilization of disease, or disease progression. [from NCI]

MedGen UID:
309976
Concept ID:
C1704632
Finding
8.

Laterality

Dominant use or manifestations of one side of the body versus the other; referring to a side of the body or of a structure. [from NCI]

MedGen UID:
90680
Concept ID:
C0332304
9.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
10.

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
11.

Heart disease

Any deviation from the normal structure or function of the cardiac system that is manifested by a characteristic set of symptoms and signs. (NCI) [from NCI]

MedGen UID:
5458
Concept ID:
C0018799
Disease or Syndrome
12.

Heterotaxy syndrome

Abnormal thoracoabdominal VISCERA arrangement (visceral heterotaxy) or malformation that involves additional CONGENITAL HEART DEFECTS (e.g., heart isomerism; DEXTROCARDIA) and/or abnormal SPLEEN (e.g., asplenia and polysplenia). Irregularities with the central nervous system, the skeleton and urinary tract are often associated with the syndrome. [from MeSH]

MedGen UID:
465273
Concept ID:
C3178805
Congenital Abnormality
13.

Biochemical Processes

Chemical reactions or functions, enzymatic activities, and metabolic pathways of living things. [from MeSH]

MedGen UID:
267723
Concept ID:
C1511130
Molecular Function
14.

MedGen UID:
141817
Concept ID:
C0524631
15.

Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS. [from MeSH]

MedGen UID:
116727
Concept ID:
C0243050
16.

Lymphadenopathy

A clinical finding indicating that a lymph node is enlarged. Causes include viral and bacterial infections and cancers that affect the lymph nodes. [from NCI]

MedGen UID:
96929
Concept ID:
C0497156
Finding
17.

Disorder of spleen

A non-neoplastic or neoplastic disorder affecting the spleen. Examples include infection, hemangioma, lymphoma, leukemia and angiosarcoma. [from NCI]

MedGen UID:
21291
Concept ID:
C0037997
Disease or Syndrome
18.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Disease or Syndrome
19.

Lymphatic Diseases

The lymphatic system is a network of tissues and organs. It is made up mainly of lymph vessels, lymph nodes and lymph. Lymph vessels, which are different from blood vessels, carry fluid called lymph throughout your body. Lymph contains white blood cells that defend you against germs. Throughout the vessels are lymph nodes. Along with your spleen, these nodes are where white blood cells fight infection. Your bone marrow and thymus produce the cells in lymph. They are part of the system, too. The lymphatic system clears away infection and keeps your body fluids in balance. If it's not working properly, fluid builds in your tissues and causes swelling, called lymphedema. Other lymphatic system problems can include infections, blockage, and cancer.  [from MedlinePlus]

MedGen UID:
9829
Concept ID:
C0024228
Disease or Syndrome
20.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality

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