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Items: 8

1.

Hypertension

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

MedGen UID:
635666
Concept ID:
C0497247
Finding
2.

Insulin resistance

Decreased sensitivity to circulating insulin which may result in acanthosis nigicrans, elevated insulin level or hyperglycemia. [from NCI]

MedGen UID:
43904
Concept ID:
C0021655
Pathologic Function
3.

Insulin resistance

Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. [from HPO]

MedGen UID:
504630
Concept ID:
CN000801
Finding
4.

Abnormality of lipid metabolism

An abnormality in the of lipid metabolism. [from HPO]

MedGen UID:
428327
Concept ID:
CN002813
Finding
5.

Metabolic syndrome X

A clustering of abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol (HDLC), high blood pressure, and elevated fasting glucose levels is sometimes called metabolic syndrome X (Reaven, 1988) or abdominal obesity-metabolic syndrome (Bjorntorp, 1991). The syndrome may affect nearly 1 in 4 U.S. adults and is considered a veritable epidemic (Ford et al., 2002). It is a major risk factor for both diabetes mellitus (see 125853 and Haffner et al., 1992) and cardiovascular disease (Isomaa et al., 2001). The etiology is complex, determined by the interplay of both genetic and environmental factors. The prevalence varies substantially among ethnic groups, with the highest rates in Mexican American women (Park et al., 2003). Other factors influencing the metabolic syndrome include age, smoking, alcohol, diet, and physical inactivity. Genetic Heterogeneity of Abdominal Obesity-Metabolic Syndrome AOMS2 (605572) has been mapped to chromosome 17p12. AOMS3 (615812) is caused by mutation in the DYRK1B gene (604556) on chromosome 19q13. [from OMIM]

MedGen UID:
99356
Concept ID:
C0524620
Disease or Syndrome
6.

Multiple fibrofolliculomas

The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
7.

Vascular disorder

The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body. . You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include. - Family history of vascular or heart diseases. - Pregnancy. - Illness or injury . - Long periods of sitting or standing still. - Any condition that affects the heart and blood vessels, such as diabetes or high cholesterol . - Smoking . - Obesity . Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.  [from MedlinePlus]

MedGen UID:
22621
Concept ID:
C0042373
Disease or Syndrome
8.

Disorder of cardiovascular system

A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. [from NCI]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
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