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1.

Pregnancy

So you're going to have a baby! Whether you are pregnant or are planning to get pregnant, you will want to give your baby a healthy start. You need to have regular visits with your healthcare provider. These prenatal care visits are very important for your baby and yourself. Some things you might do when you are pregnant could hurt your baby, such as smoking or drinking. Some medicines can also be a problem, even ones that a doctor prescribed. You will need to drink plenty of fluids and eat a healthy diet. You may also be tired and need more rest. Your body will change as your baby grows during the nine months of your pregnancy. Don't hesitate to call your health care provider if you think you have a problem or something is bothering or worrying you. .  [from MedlinePlus]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
2.

Patient currently pregnant

Observed to be or have been pregnant. [from NCI]

MedGen UID:
639841
Concept ID:
C0549206
Finding
3.

Probe brand of methazole herbicide

brand name of methazole herbicide [from CHV]

MedGen UID:
152600
Concept ID:
C0728863
Organic Chemical; Pharmacologic Substance
4.

Resistance to activated protein C

Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay. [from HPO]

MedGen UID:
109068
Concept ID:
C0600433
Disease or Syndrome
5.

Thrombophilia

Prothrombin-related thrombophilia is characterized by venous thromboembolism (VTE) manifest most commonly in adults as deep-vein thrombosis (DVT) in the legs or pulmonary embolism. The clinical expression of prothrombin-related thrombophilia is variable; many individuals heterozygous or homozygous for the 20210G>A (G20210A or c.*97G>A) allele in F2 never develop thrombosis, and while most heterozygotes who develop thrombotic complications remain asymptomatic until adulthood, some have recurrent thromboembolism before age 30 years. The relative risk for DVT in adults heterozygous for the 20210G>A allele is two- to fivefold increased; in children, the relative risk for thrombosis is three- to fourfold increased. 20210G>A heterozygosity has at most a modest effect on recurrence risk after a first episode. Although prothrombin-related thrombophilia may increase the risk for pregnancy loss, its association with preeclampsia and other complications of pregnancy such as intrauterine growth restriction and placental abruption remains controversial. Factors that predispose to thrombosis in prothrombin-related thrombophilia include: the number of 20210G>A alleles; presence of coexisting genetic abnormalities including factor V Leiden; and acquired thrombophilic disorders (e.g., antiphospholipid antibodies). Circumstantial risk factors for thrombosis include pregnancy and oral contraceptive use. Some evidence suggests that the risk for VTE in 20210G>A heterozygotes increases after travel. [from GeneReviews]

MedGen UID:
98306
Concept ID:
C0398623
Disease or Syndrome
6.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Quantitative Concept
7.

Protein C

A vitamin-K dependent zymogen present in the blood, which, upon activation by thrombin and thrombomodulin exerts anticoagulant properties by inactivating factors Va and VIIIa at the rate-limiting steps of thrombin formation. [from MeSH]

MedGen UID:
46154
Concept ID:
C0033621
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
8.

Hypertension

Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. . Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of. -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits such as exercise and the DASH diet and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
9.

Pregnancy-induced hypertension

A condition in pregnant women with elevated systolic (>140 mm Hg) and diastolic (>90 mm Hg) blood pressure on at least two occasions 6 h apart. HYPERTENSION complicates 8-10% of all pregnancies, generally after 20 weeks of gestation. Gestational hypertension can be divided into several broad categories according to the complexity and associated symptoms, such as EDEMA; PROTEINURIA; SEIZURES; abnormalities in BLOOD COAGULATION and liver functions. [from MeSH]

MedGen UID:
852894
Concept ID:
C0852036
Finding; Pathologic Function
10.

Early Pregnancy Loss

Pregnancy loss before 10th week of gestation with no documentation of whether or not an embryo was visible on ultrasonogram.(Perinatal) [from NCI_NICHD]

MedGen UID:
823110
Concept ID:
C3830362
Finding
11.

Hypertension

A finding of increased blood pressure; not necessarily hypertensive disorder [from SNOMED CT]

MedGen UID:
635666
Concept ID:
C0497247
Finding
12.

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
13.

Factor V Leiden mutation

An abnormality that refers to mutation of factor V Leiden, which is a variant of human factor V. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage. [from NCI]

MedGen UID:
473218
Concept ID:
C0584960
Disease or Syndrome
14.

Hypercoagulability

MedGen UID:
463623
Concept ID:
C3160733
Finding
15.

Preeclampsia

Pregnancy-induced hypertension in association with significant amounts of protein in the urine. [from HPO]

MedGen UID:
451904
Concept ID:
CN117494
Finding
16.

Thrombophilia due to activated protein C resistance

Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk for venous thromboembolism (VTE). Deep venous thrombosis (DVT) is the most common VTE, with the legs being the most common site. Thrombosis in unusual locations is less common. Evidence suggests that a heterozygous factor V Leiden mutation has at most a modest effect on recurrence risk after initial treatment of a first VTE. Heterozygosity for factor V Leiden is associated with a two- to threefold increase in relative risk for pregnancy loss, and possibly other pregnancy complications such as preeclampsia, fetal growth retardation, and placental abruption. The clinical expression of factor V Leiden thrombophilia is influenced by: The number of factor V Leiden alleles (heterozygotes have a slightly increased risk for venous thrombosis; homozygotes have a much greater thrombotic risk); Coexisting genetic thrombophilic disorders, which have a supra-additive effect on overall thrombotic risk; Acquired thrombophilic disorders: antiphospholipid antibodies, hyperhomocysteinemia, high factor VIII levels, malignancy; and Circumstantial risk factors: travel, central venous catheters, pregnancy, oral contraceptive use, hormone replacement therapy (HRT), selective estrogen receptor modulators (SERMs), organ transplantation, advancing age, and surgery. [from GeneReviews]

MedGen UID:
396074
Concept ID:
C1861171
Disease or Syndrome
17.

Familial multiple polyposis syndrome

Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.
[from GHR]

MedGen UID:
46010
Concept ID:
C0032580
Neoplastic Process
18.

Preeclampsia/eclampsia 1

Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011). Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platlets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/Eclampsia Susceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (609402) on chromosome 2p25, and PEE3 (609403) on chromosome 9p13. PEE4 (609404) is caused by mutation in the STOX1 gene (609397) on chromosome 10q22. PEE5 (614595) is caused by mutation in the CORIN gene (605236) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (132810) on chromosome 1q. [from OMIM]

MedGen UID:
18608
Concept ID:
C0032914
Finding; Pathologic Function
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.

Anticoagulants

If you have some kinds of heart or blood vessel disease, or if you have poor blood flow to your brain, your doctor may recommend that you take a blood thinner. Blood thinners reduce the risk of heart attack and stroke by reducing the formation of blood clots in your arteries and veins. You may also take a blood thinner if you have . -An abnormal heart rhythm called atrial fibrillation. -Heart valve surgery. -Congenital heart defects. There are two main types of blood thinners. Anticoagulants, such as heparin or warfarin (also called Coumadin), work on chemical reactions in your body to lengthen the time it takes to form a blood clot. Antiplatelet drugs, such as aspirin, prevent blood cells called platelets from clumping together to form a clot. When you take a blood thinner, follow directions carefully. Make sure that your healthcare provider knows all of the medicines and supplements you are using.  [from MedlinePlus]

MedGen UID:
1970
Concept ID:
C0003280
Pharmacologic Substance
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