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1.

Tetralogy of Fallot; single umbilical artery; absent thumb; abnormality of the vertebrae

MedGen UID:
850704
Concept ID:
CN231389
Finding
2.

Probe brand of methazole herbicide

brand name of methazole herbicide [from CHV]

MedGen UID:
152600
Concept ID:
C0728863
Organic Chemical; Pharmacologic Substance
3.

Tetralogy of Fallot

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:
21498
Concept ID:
C0039685
Congenital Abnormality
4.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
5.

Congenital anomalies

MedGen UID:
851041
Concept ID:
CN232116
Disease or Syndrome
6.

Multifocal atrial tachycardia

Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. [from ORDO]

MedGen UID:
798822
Concept ID:
CN204170
Finding
7.

Tetralogy of Fallot

A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. [from HPO]

MedGen UID:
504882
Concept ID:
CN001489
Finding
8.

Ventriculomegaly

An increase in size of the ventricular system of the brain. [from HPO]

MedGen UID:
480553
Concept ID:
C3278923
Finding
9.

Intrauterine growth retardation

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. [from HPO]

MedGen UID:
473406
Concept ID:
C1386048
Pathologic Function
10.

Enlarged cisterna magna

Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. [from HPO]

MedGen UID:
344031
Concept ID:
C1853377
Finding
11.

Abnormality

A condition that differs from the usual physical or mental state. [from NCI]

MedGen UID:
309940
Concept ID:
C1704258
Finding
12.

Cerebral ventriculomegaly

Enlargement of CEREBRAL VENTRICLES. Although it is often isolated without other CNS anomalies it can be associated with other congenital malformations (e.g., ARNOLD-CHIARI MALFORMATION; DANDY-WALKER MALFORMATION, and ACROCALLOSAL SYNDROME). [from MeSH]

MedGen UID:
283902
Concept ID:
C1531647
Finding
13.

Infantile systemic hyalinosis

Infantile systemic hyalinosis is additionally characterized by infantile onset painful thickened skin, hyperpigmentation over joints, and increased susceptibility to bone fractures. Early childhood death due to severe diarrhea and recurrent infections are common. [from MeSH]

MedGen UID:
96062
Concept ID:
C0406582
Disease or Syndrome
14.

Arachnoid cyst

Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115) [from MeSH]

MedGen UID:
86860
Concept ID:
C0078981
Disease or Syndrome
15.

Reciprocal translocation

MedGen UID:
83085
Concept ID:
C0333714
Cell or Molecular Dysfunction
16.

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
17.

Cyst

A sac or capsule in the body. It may be filled with fluid or other material. [from NCI]

MedGen UID:
41396
Concept ID:
C0010709
Anatomical Abnormality; Disease or Syndrome
18.

Hydrocephalus

Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28. [from OMIM]

MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
19.

Intrauterine growth restriction

abnormal fetal physical growth or growth potential at any gestational stage. [from CRISP]

MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
20.

Chromosomal translocation

Any type of genetic recombination involving exchange of DNA between non-homologous chromosomes, which often occurs as the result of non-homologous end-joining of broken DNA strands. Chromosomal translocation is involved in repairing broken DNA and in maintaining cell viability at the expense of long term genomic stability. This process is is associated with particular types of leukemia, infertility and Down Syndrome. [from NCI]

MedGen UID:
21243
Concept ID:
C0040715
Cell or Molecular Dysfunction
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