Diseases

Coloboma of lens ala nasi

Coloboma of lens ala nasi: A congenital anomaly involving the presence of a gap in the eye lens as well as a gap in the flaps of the nostrils - this gap is called a coloboma. The degree of vision impairment depends on the amount of absent eye lens tissue.

Coloboma of macula

Coloboma of macula: A hole in the eye structure called the macula which is located in the middle of the retina and is involved in functions such as reading. Severity of symptoms is determined by the size of the defect

Coloboma of optic nerve

Coloboma of optic nerve: A hole in the eye structure called the optic nerve which is responsible for sending visual information from the eye to the brain. Severity of symptoms is determined by the size of the defect.

Coloboma of optic papilla

Coloboma of optic papilla: A hole in the eye structure called the optic disc which is located at the head of the optic nerve. Severity of symptoms is determined by the size of the defect.

Coloboma porencephaly hydronephrosis

Coloboma porencephaly hydronephrosis: A rare syndrome characterized by the presence of a coloboma of the eye (absence of portion of the eye structure), kidney problems and a brain anomaly (porencephaly).

Colonic atresia

Colonic atresia is a condition that occurs during embryonic development in which the normal tubular shape of the colon in the fetus is unexpectedly closed. This congenital abnormality may be caused by incomplete development of the colon or the loss of blood flow during its development. Colonic atresia is rare and may occur with the more common small bowel atresia.

Colonic malakoplakia

Colonic malakoplakia: A rare form of inflammatory disease that occurs in the colon and occurs mainly in immunocompromised people. The severity of the disorder can vary from asymptomatic to intestinal obstruction and even death in rare cases.

Colorectal Cancer

The rectum is the portion of the large bowel that lies in the pelvis, terminating at the anus. Cancer of the rectum is the disease characterized by the development of malignant cells in the lining or epithelium of the rectum. Malignant cells have changed such that they lose normal control mechanisms governing growth. These cells may invade surrounding local tissue or they may spread throughout the body and invade other organ systems.

Colpocephaly

Colpocephaly: A rare brain malformation that is present at birth. The cavities present at the back of the brain are larger than normal as the brain tissue has failed to develop normally to fill some of the space. Severity of symptoms are variable depending on the degree of abnormality.

Colver Steer Godman syndrome

Colver-Steer-Godman syndrome: A very rare syndrome characterized mainly by a rigid spine and heart muscle disease.

Combarros Calleja Leno syndrome

Combarros Calleja Leno syndrome: A rare disorder characterized by the association of glaucoma at birth with a form of ataxia.

Combined hyperlipidemia- familial

Combined hyperlipidemia, familial: An inherited condition characterized by high cholesterol or triglyceride levels which increases the risk of cardiovascular disease.

Common mesentery

The mesentery proper (i.e. the original definition) refers to the peritoneum responsible for connecting the jejunum and ileum, parts of the small intestine, to the back wall of the abdomen. Between the two sheets of peritoneum are blood vessels, lymph vessels, and nerves. This allows these parts of the small intestine to move relatively freely within the abdominopelvic cavity. The brain, however, cannot map sensation accurately, so sensation is usually referred to the midline, an example of referred pai

Common variable immunodeficiency

Common variable immune deficiency is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses. CVID is characterized by low levels of most or all of the immunoglobulin (Ig) classes. This causes affected people to get frequent infections, particularly in the sinuses, lungs, ears and digestive tract. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinaltract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas.

Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a decrease in platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritiscan occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer.

People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood; most people with CVID are diagnosed in their twenties or thirties. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.

There are many different types of CVID that are distinguished by genetic cause. People with the same type of CVID may have varying signs and symptoms.

 

Compartment syndrome

Compartment Syndrome: Excessive bleeding or swelling following surgery or injury can result in increased pressure within a section of the arms, legs or buttocks. The increased pressure affects blood flow and can result in tissue death necessitating amputation, nerve damage or muscle damage. The condition can be chronic or acute which is a medical emergency

Complement component deficiency

Complement component deficiency: Complement components are a part of the immune defense system involved in destroying and removing invading pathogens such as bacteria. A deficiency of the complement components can affect the ability of the body's immune system to function properly. The disorder which can be partial or complete and may be inherited or acquired. The severity of the symptoms is determined by which complement component (there are at least 30 of them) is deficient and whether the deficiency is partial or complete

Complement receptor deficiency

Complement receptor deficiency: Complement receptors are a part of the immune defense system and they initiate the process of destroying and removing invading pathogens. A deficiency of complement receptors thus affects the immune system. It may be inherited or be associated with autoimmune disorders such as systemic lupus erythematosus diabetic nephropathy patients on hemodialysis.

Complete atrioventricular canal

Complete atrioventricular canal: A rare form of congenital heart disease where the there is a hole in the heart wall that separates the upper heart chambers, a hole the heart wall that separates the lower heart chambers and heart valve abnormalities (tricuspid and mitral valves). This results in excessive blood circulation in the lungs leading to congestive heart failure in untreated cases.

Complex 1 mitochondrial respiratory chain deficiency

Complex 1 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.

Complex 2 mitochondrial respiratory chain deficiency

Complex 2 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (succinate CoQ reductase) disrupts cellular processes. The deficiency may result variable symptoms and condition including conditions such as Leigh's syndrome, myopathy and Kearns-Sayre syndrome

Complex 3 mitochondrial respiratory chain deficiency

Complex III dificiency is one type of a mitochondrial diseases and a rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity.

Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency.

Source: wrongdiagnosis

Complex 4 mitochondrial respiratory chain deficiency

Complex 4 mitochondrial respiratory chain deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called enzyme cytochrome C oxidase (COX or Complex IV) which is needed in the process of energy production by body cells. There are two subtypes: the benign infantile type only affects muscles whereas the fatal infant type affects the heart and kidneys as well as the muscles.

Complex 5 mitochondrial respiratory chain deficiency

Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber's myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).