Medical Questionnaire Definitions (A – Z)

Acromegaly – A disorder that results from excess growth hormone (GH) after the growth plates have closed. The initial symptom is typically enlargement of the hands and feet. There may also be an enlargement of the forehead, jaw, and nose. Other symptoms may include joint pain, thicker skin, deepening of the voice, headaches, and problems with vision. Complications of the disease may include type 2 diabetes, sleep apnoea, and high blood pressure.

Adrenal disease - Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of steroid hormones, primarily cortisol; but may also include impaired production of aldosterone (a mineralocorticoid), which regulates sodium conservation, potassium secretion, and water retention. Addison's disease and congenital adrenal hyperplasia can manifest as adrenal insufficiency.

Alcoholism – Broadly, any drinking of alcohol that results in mental and/or physical health problems ranging anywhere from mild and imperceptible without special testing to severe and grossly overt. In a medical context, alcoholism is said to exist when two or more of the following conditions are present: a person drinks large amounts of alcohol over a long time period, has difficulty cutting down, acquiring and drinking alcohol takes up a great deal of time, alcohol is strongly desired, usage results in not fulfilling responsibilities, usage results in social problems, usage results in health problems, usage results in risky situations, withdrawal occurs when stopping, and alcohol tolerance has occurred with use.

Alzheimer's disease – A chronic neurodegenerative disease that usually starts slowly and gradually worsens over time. It is the cause of 60–70% of cases of dementia.

Anaemia – A decrease in the total amount of red blood cells (RBCs) or haemoglobin in the blood, or a lowered ability of the blood to carry oxygen.

Anencephaly – The absence of a major portion of the brain, skull, and scalp that occurs during embryonic development. It is a cephalic disorder that results from a neural tube defect that occurs when the rostral (head) end of the neural tube fails to close, usually between the 23rd and 26th day following conception.

Aneurysm – An outward bulging, likened to a bubble or balloon, caused by a localized, abnormal, weak spot on a blood vessel wall. Aneurysms may be a result of a hereditary condition or an acquired disease. Aneurysms can also be a nidus (starting point) for clot formation (thrombosis) and embolization.

Angina – Chest pain or pressure, usually due to not enough blood flow to the heart muscle.

Arthritis – A term often used to mean any disorder that affects joints. Symptoms generally include joint pain and stiffness. Other symptoms may include redness, warmth, swelling, and decreased range of motion of the affected joints. In some types of arthritis, other organs are also affected.

Asthma – A common long-term inflammatory disease of the airways of the lungs. It is characterized by variable and recurring symptoms, reversible airflow obstruction, and easily triggered bronchospasms.

Atherosclerosis – A disease in which the inside of an artery narrows due to the build-up of plaque. When severe, it can result in coronary artery disease, stroke, peripheral artery disease, or kidney problems, depending on which arteries are affected.

Attention deficit hyperactivity disorder – A neurodevelopmental disorder characterized by inattention, or excessive activity and impulsivity, which are otherwise not appropriate for a person's age. Some individuals with ADHD also display difficulty regulating emotions or problems with executive function.

Autism - A developmental disorder characterized by difficulties with social interaction and communication, and by restricted and repetitive behaviour.

 

Bipolar disorder – A mental disorder characterized by periods of depression and periods of abnormally elevated mood that last from days to weeks each.

Birth defect of respiratory system – Congenital disorders can be subdivided into abnormalities of the thorax, specifically the diaphragm (hernia of the diaphragm), the lung (lung sequestration, cystic adenomatoid malformation, bronchogenic cyst, foregut cyst), the blood supply (aberrant vascularisation, double arch of the aorta), the airways (tracheal rings, tracheomalacia, tracheal atresia) and the larynx and oral cavity.

Birth defect of brain or spinal cord – Birth defects of the central nervous system are called neural tube defects (NTDs). NTDs include conditions called spina bifida, anencephaly and encephalocele. They are all present at birth and are due to a problem with the development of the brain and/or spinal cord in the developing baby (foetus).

Birth defect of gastro-intestinal system – Birth defects of the digestive tract include oesophageal atresia (obstruction of the oesophagus) and imperforate anus (malformations of the anus). Most babies born with oesophageal atresia also have tracheo-oesophageal fistula, which means the trachea and oesophagus are connected.

Birth defect of the renal system – Common birth defects of the urinary system include hypospadias, obstructive defects of the renal pelvis and renal agenesis.

Birth defect of the reproductive system - Congenital disorders of the reproductive tract include: Abnormalities of the external genitalia – including the clitoris or labia, or ambiguous genitalia (not clearly male or female), Hymen abnormalities – including imperforate hymen, Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome – missing part or all of the internal reproductive organs (uterus, cervix and fallopian tubes), Ovarian abnormalities – including an extra ovary or extra tissue attached to an ovary, Uterine and cervix abnormalities – including extra cervix and uterus, half-formed uterus, or blockage of the uterus, Vaginal abnormalities – including no vagina or the vaginal opening is blocked, Vulva abnormalities.

Birth defect of the endocrine system – The endocrine system is a series of glands that produce and secrete hormones that the body uses for a wide range of functions. These control many different bodily functions, including: Respiration, metabolism and reproduction

Birth defect of sensory system(s) – Congenital defects present at birth which affect the sensory organs are known as sensory birth defects; the most common examples include cataracts, visual impairment, blindness and hearing loss.

Birth defect of the skeletal system – Congenital defects present at birth that include conditions such as hip dysplasia, Arthrogryposis or malformed spine.

Blindness -- The term blindness is used for complete or nearly complete vision loss. Visual impairment, also known as vision impairment or vision loss, is a decreased ability to see to a degree that causes problems not fixable by usual means, such as glasses.

Blood clots – A thrombus, colloquially called a blood clot, is the final product of the blood coagulation step in haemostasis. A thrombus is a healthy response to injury intended to prevent bleeding, but can be harmful in thrombosis, when clots obstruct blood flow through healthy blood vessels.

Brain or spinal cancer - Tumours of the brain and spinal cord are abnormal growths of tissue found inside the skull or the bony spinal column.  The brain and spinal cord are the primary components of the central nervous system (CNS)

Breast cancer – Cancer that develops from breast tissue.

 

Canavan disease – An autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain and is one of the most common degenerative cerebral diseases of infancy. It is caused by a deficiency of the enzyme aminoacylase 2 and is one of a group of genetic diseases referred to as leukodystrophies. It is characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human chromosome 17.

Cancer of the urinary tract – The urinary tract consists of the kidneys, bladder, ureters, and urethra.

Cardiomyopathy - A group of diseases that affect the heart muscle. Early on there may be few or no symptoms. As the disease worsens, shortness of breath, feeling tired, and swelling of the legs may occur, due to the onset of heart failure. Those affected are at an increased risk of sudden cardiac death.

Cataracts before age 50 – A cataract is an opacification of the lens of the eye which leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colours, blurry or double vision, halos around light, trouble with bright lights, and trouble seeing at night.

Cerebral palsy - a group of permanent movement disorders that appear in early childhood. Signs and symptoms vary among people and over time. Often, symptoms include poor coordination, stiff muscles, weak muscles, and tremors. There may be problems with sensation, vision, hearing, swallowing, and speaking. Cerebral palsy is caused by abnormal development or damage to the parts of the brain that control movement, balance, and posture.

Circulatory disorder – The circulatory system is your heart and blood vessels, and it’s essential to keeping your body functioning. This system carries oxygen, nutrients, electrolytes, and hormones throughout your body. Interruptions, blockage, or diseases that affect how your heart or blood vessels pump blood can cause complications such as heart disease or stroke. These complications can arise due to a variety of factors, from genetics to lifestyle.

Chronic obstructive pulmonary disease [COPD] – A type of obstructive lung disease characterized by long-term breathing problems and poor airflow. The main symptoms include shortness of breath and cough with sputum production. COPD is a progressive disease, meaning it typically worsens over time.

Cirrhosis of the liver – A condition in which the liver does not function properly due to long-term damage. This damage is characterized by the replacement of normal liver tissue by scar tissue.

Cleft lip and/or cleft palate – Also known as orofacial cleft, is a group of conditions that includes cleft lip, cleft palate, and both together. A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the roof of the mouth contains an opening into the nose.

Club foot – A birth defect where one or both feet are rotated inward and downward. The affected foot and leg may be smaller in size compared to the other.  Approximately 50% of cases of clubfoot affect both feet.

Coeliac disease – A long-term immune disorder that primarily affects the small intestine. Classic symptoms include gastrointestinal problems such as chronic diarrhoea, abdominal distention, malabsorption, loss of appetite, and among children failure to grow normally. Coeliac disease is caused by a reaction to gluten, a group of various proteins found in wheat and in other grains such as barley and rye.

Colon/rectal/intestinal cancer – Bowel cancer is cancer in any part of the large bowel (colon or rectum). It is sometimes known as colorectal cancer and might also be called colon cancer or rectal cancer, depending on where it starts. Cancer of the small bowel is very rare – it is called small bowel cancer or small intestine cancer.

Colour vision deficiency – Is the decreased ability to see colour or differences in colour. People with total colour blindness (achromatopsia) may also be uncomfortable in bright environments and have decreased visual acuity.

The most common cause of colour blindness is an inherited problem in the development of one or more of the three sets of the eyes' cone cells, which sense colour.

Congenital hip dislocation – Hip dysplasia is an abnormality of the hip joint where the socket portion does not fully cover the ball portion, resulting in an increased risk for joint dislocation. Hip dysplasia may occur at birth or develop in early life.

Congenital heart defect – Congenital heart disease is the name for is a defect in the structure of the heart or great vessels that is present at birth.

Congestive heart failure – When the heart is unable to pump sufficiently to maintain blood flow to meet the body's needs. Signs and symptoms of heart failure commonly include shortness of breath, excessive tiredness, and leg swelling

Crohn's disease – A type of inflammatory bowel disease (IBD) that may affect any segment of the gastrointestinal tract from the mouth to the anus.

Cushing's disease – One cause of Cushing's syndrome characterised by increased secretion of adrenocorticotropic hormone (ACTH) from the anterior pituitary (secondary hypercortisolism).

Cystic fibrosis – A genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males. CF is inherited in an autosomal recessive manner.

 

Deafness before age 60 – In medical contexts, the meaning of deafness is hearing loss that precludes a person from understanding spoken language, an audiological condition.

Deformity of the ear – Abnormal development or deformities of the ear anatomy can cause a range of complications, from cosmetic issues to hearing and development problems. Examples are  protruding ears, constricted ears, Cryptotia, Microtia, Anotia, Stahl's ear, ear tags, Cauliflower ear, ear hemangiomas.

Deformity of spine – Spinal deformity occurs when the curves of the spine differ from the normal, gentle S-shape seen from the side, or the straight line down the back of a normal spine. Spinal deformities may lead to symptoms that include pain, weakness, numbness, tingling, loss of function, and pulmonary and cardiac problems.

Dementia before age 50 – Dementia is a broad category of brain diseases that cause a long-term and often gradual decrease in the ability to think and remember that is severe enough to affect daily functioning. Other common symptoms include emotional problems, difficulties with language, and a decrease in motivation. A diagnosis of dementia requires a change from a person's usual mental functioning and a greater decline than one would expect due to aging.

Depression – A mental disorder characterized by at least two weeks of pervasive low mood. Low self-esteem, loss of interest in normally enjoyable activities, low energy, and pain without a clear cause are common symptoms. Those affected may also occasionally have delusions or hallucinations.

Developmental delay – When a child does not reach their developmental milestones at the expected times. It is an ongoing major or minor delay in the process of development.

Diabetes mellitus – A group of metabolic disorders characterized by a high blood sugar level over a prolonged period of time. Diabetes is due to either the pancreas not producing enough insulin, or the cells of the body not responding properly to the insulin produced. There are three main types of diabetes mellitus: Type 1, Type 2 and gestational diabetes.

Diabetes insipidus – A condition characterized by large amounts of dilute urine and increased thirst. The amount of urine produced can be nearly 20 litres per day. Reduction of fluid has little effect on the concentration of the urine. Complications may include dehydration or seizures.

Disorders of spinal cord – Congenital or disease onset causes, symptoms, treatments and prognosis's effecting mobility or sensation.

Dwarfism – The most common and recognisable form of dwarfism in humans is the genetic disorder achondroplasia, comprising 70% of cases. Disproportionate dwarfism is characterized by either short limbs or a short torso. In cases of proportionate dwarfism, both the limbs and torso are unusually small. Intelligence is usually normal, and most have a nearly normal life expectancy.

 

Emphysema – A type of chronic obstructive pulmonary disease. The air sacs in the lungs become damaged and stretched. This results in a chronic cough and difficulty breathing. Smoking is the most common cause, but emphysema can also be genetic.

Epilepsy or seizure disorder – Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epileptic seizures are episodes that can vary from brief and nearly undetectable periods to long periods of vigorous shaking. In seizure disorders, the brain's electrical activity is periodically disturbed, resulting in some degree of temporary brain dysfunction.

 

Familial dysautonomia – A rare, progressive, recessive genetic disorder of the autonomic nervous system seen primarily in people of Eastern European Jewish descent that affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system.

Fanconi anaemia – A rare genetic disease resulting in impaired response to DNA damage. Among those affected, the majority develop cancer, most often acute myelogenous leukaemia, and 90% develop bone marrow failure (the inability to produce blood cells) by age 40. About 60–75% of people have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% of people have some form of endocrine problems, with varying degrees of severity.

 

Gallstones – A gallstone is a stone formed within the gallbladder out of precipitated bile components.  The term cholelithiasis may refer to the presence of gallstones or to any disease caused by gallstones, and choledocholithiasis refers to presence of migrated gallstones within bile ducts.

Gaucher disease – A genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anaemia, low blood platelet count and enlargement of the liver and spleen and is caused by a hereditary deficiency of the enzyme glucocerebrosidase which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages. Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow.

Glaucoma – A group of eye diseases which result in damage to the optic nerve and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye remains open, with less common types including closed-angle (narrow angle, acute congestive) glaucoma and normal-tension glaucoma.

Gout – A form of inflammatory arthritis characterized by recurrent attacks of a red, tender, hot, and swollen joint. Pain typically comes on rapidly, reaching maximal intensity in less than 12 hours.

Growth delay – A growth delay occurs when a child isn't growing at the normal rate for their age. The delay may be caused by an underlying health condition, such as growth hormone deficiency or hypothyroidism

Growth hormone deficiency – A medical condition due to not enough growth hormone (GH). Generally, the most noticeable symptom is a short height. GHD can be present at birth or develop later in life. Causes may include genetics, trauma, infections, tumours, or radiation therapy.

 

Haemophilia or other bleeding problem – Haemophilia is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding for a longer time after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain.

Heart arrhythmia – A group of conditions in which the heartbeat is irregular, too fast, or too slow. The heart rate that is too fast – above 100 beats per minute in adults – is called tachycardia, and a heart rate that is too slow – below 60 beats per minute – is called bradycardia.

Heart attack – A myocardial infarction, also known as a heart attack, occurs when blood flow decreases or stops to a part of the heart, causing damage to the heart muscle.

Hemochromatosis – A genetic disorder characterized by excessive intestinal absorption of dietary iron, resulting in a pathological increase in total body iron stores.

Other hereditary anaemia – For example Thrombotic thrombocytopenic purpura, Hereditary spherocytosis or Congenital pernicious anaemia.

Hernia – The abnormal exit of tissue or an organ, such as the bowel, through the wall of the cavity in which it normally resides. Most commonly they involve the abdomen, specifically the groin. Other hernias include hiatus, incisional, and umbilical hernias.

High blood pressure – Hypertension, also known as high blood pressure, is a long-term medical condition in which the blood pressure in the arteries is persistently elevated. High blood pressure typically does not cause symptoms. Long-term high blood pressure, however, is a major risk factor for coronary artery disease, stroke, heart failure, atrial fibrillation, peripheral arterial disease, vision loss, chronic kidney disease, and dementia.

Huntington's disease – An inherited disorder that results in the death of brain cells. HD is typically inherited, although up to 10% of cases are due to a new mutation. The disease is caused by an autosomal dominant mutation in either of an individual's two copies of a gene called huntingtin. This means a child of an affected person typically has a 50% chance of inheriting the disease. The huntingtin gene provides the genetic information for a protein that is also called huntingtin.

Hydrocephalus – A condition in which an accumulation of cerebrospinal fluid (CSF) occurs within the brain. This typically causes increased pressure inside the skull. Hydrocephalus can occur due to birth defects or be acquired later in life.

Hypospadias – A common variation in foetal development of the penis in which the urethra does not open from its usual location in the head of the penis.

Hyperpituitarism – A condition due to the primary hypersecretion of pituitary hormones; it typically results from a pituitary adenoma. They usually come from the anterior lobe, are functional and secrete the hormone, GH and prolactin.

Hypopituitarism – The decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. If there is decreased secretion of one specific pituitary hormone, the condition is known as selective hypopituitarism. If there is decreased secretion of most or all pituitary hormones, the term panhypopituitarism (pan meaning "all") is used. The signs and symptoms of hypopituitarism vary, depending on which hormones are under secreted and on the underlying cause of the abnormality

 

Immune deficiency – Immunodeficiency or immunocompromise is a state in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. Most cases of immunodeficiency are acquired ("secondary") due to extrinsic factors that affect the patient's immune system. Examples of these extrinsic factors include HIV infection and environmental factors, such as nutrition. In the clinical setting, the immunosuppression by some drugs, such as steroids, can be either an adverse effect or the intended purpose of the treatment. Some people are born with intrinsic defects in their immune system, or primary immunodeficiency. A person who has an immunodeficiency of any kind is said to be immunocompromised. An immunocompromised person may be particularly vulnerable to opportunistic infections, in addition to normal infections that could affect everyone.

Infertility – The inability of a person to reproduce by natural means. In humans, infertility is the inability to become pregnant after one year of intercourse without contraception involving a male and female partner.

Intellectual disability – A generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviours that affect every day, general living.

 

Kidney stones – Also known as nephrolithiasis or urolithiasis, is when a solid piece of material (kidney stone) develops in the urinary tract. Kidney stones typically form in the kidney and leave the body in the urine stream.

 

Learning disorder - A condition in the brain that causes difficulties comprehending or processing information and can be caused by several different factors.

Leukaemia – A  group of blood cancers that usually begin in the bone marrow and result in high numbers of abnormal blood cells.

Liver cancer – Also known as hepatic cancer and primary hepatic cancer, is cancer that starts in the liver. Cancer which has spread from elsewhere to the liver, known as liver metastasis, is more common than that which starts in the liver.

 

Marfan Syndrome – A genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have overly flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms of MFS is variable.

Melanoma – A type of skin cancer that develops from the pigment-producing cells known as melanocytes. Melanomas typically occur in the skin but may rarely occur in the mouth, intestines or eye (uveal melanoma).

Metabolic disorder – A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are autosomal recessive. Inherited metabolic disorders are one cause of metabolic disorders and occur when a defective gene causes an enzyme deficiency. These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic diseases can also occur when the liver or pancreas do not function properly.

Migraine headaches – A primary headache disorder characterized by recurrent headaches that are moderate to severe. Typically, the headaches affect one half of the head, are pulsating in nature, and last from a few hours to 3 days. Associated symptoms may include nausea, vomiting, and sensitivity to light, sound, or smell. Migraines are believed to be due to a mixture of environmental and genetic factors.

Motor Neuron Disease – A group of rare neurodegenerative disorders that selectively affect motor neurons, the cells which control voluntary muscles of the body. They include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP), pseudobulbar palsy, progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), and monomelic amyotrophy (MMA), as well as some rarer variants resembling ALS.

Motor neuron diseases affect both children and adults. While each motor neuron disease affects patients differently, they all cause movement-related symptoms, mainly muscle weakness. Most of these diseases seem to occur randomly without known causes, but some forms are inherited.

Movement disorder – Clinical syndromes with either an excess of movement or a paucity of voluntary and involuntary movements, unrelated to weakness or spasticity. Movement disorders are synonymous with basal ganglia or extrapyramidal diseases. Movement disorders are conventionally divided into two major categories- hyperkinetic and hypokinetic. Hyperkinetic movement disorders refer to dyskinesia, or excessive, often repetitive, involuntary movements that intrude upon the normal flow of motor activity.

Multiple sclerosis – Also known as encephalomyelitis disseminata, is a demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged. This damage disrupts the ability of parts of the nervous system to transmit signals, resulting in a range of signs and symptoms, including physical, mental, and sometimes psychiatric problems.

Muscular dystrophy – A group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time. The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin.

 

Neurofibromatosis – A group of three conditions in which tumours grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2, there may be hearing loss, cataracts at a young age, balance problems, flesh coloured skin flaps, and muscle wasting. In schwannomatosis there may be pain either in one location or in wide areas of the body. The tumours in NF are generally non-cancerous.

Niemann-Pick disease – A group of severe inherited metabolic disorders, in which sphingomyelin accumulates in lysosomes in cells (the lysosomes normally transport material through and out of cells). These disorders involve the dysfunctional metabolism of sphingolipids, which are fats found in cell membranes.

 

Obsessive compulsive disorder – A mental disorder in which a person has certain thoughts repeatedly (called "obsessions") or feels the need to perform certain routines repeatedly (called "compulsions") to an extent which generates distress or impairs general functioning. The person is unable to control either the thoughts or activities for more than a short period of time.

Osteoporosis – A systemic skeletal disorder characterized by low bone mass, micro architectural deterioration of bone tissue leading to bone fragility, and consequent increase in fracture risk. It is the most common reason for a broken bone among the elderly.

Ovarian cancer – A cancer that forms in or on an ovary. The ovary is an organ found in the female reproductive system that produces an egg.

 

Pancreatic cancer – Arises when cells in the pancreas, a glandular organ behind the stomach, begin to multiply out of control and form a mass.

Pancreatitis – A condition characterized by inflammation of the pancreas. The pancreas is a large organ behind the stomach that produces digestive enzymes and several hormones. There are two main types: acute pancreatitis, and chronic pancreatitis.

Panic or anxiety disorder – A group of mental disorders characterized by significant feelings of anxiety and fear. Anxiety is a worry about future events, while fear is a reaction to current events. These feelings may cause physical symptoms, such as increased heart rate and shakiness. There are several anxiety disorders, including generalized anxiety disorder, specific phobia, social anxiety disorder, separation anxiety disorder, agoraphobia, panic disorder, and selective mutism.

Parathyroid disease – Many conditions are associated with disorders of the function of the parathyroid gland. Parathyroid diseases can be divided into those causing hyperparathyroidism (an increase in parathyroid hormone (PTH) levels in the blood), and those causing hypoparathyroidism (decreased function of the parathyroid glands with underproduction of parathyroid hormone).

Parkinson's disease - A long-term degenerative disorder of the central nervous system that mainly affects the motor system. The symptoms usually emerge slowly and, as the disease worsens, non-motor symptoms become more common. The most obvious early symptoms are tremor, rigidity, slowness of movement, and difficulty with walking, but cognitive and behavioural problems may also occur.

Pickardt-Fahlbusch syndrome – A rare form of tertiary hypothyroidism that is caused by interruption of the portal veins connecting hypothalamus and pituitary. Typical manifestations of Pickardt–Fahlbusch syndrome are hypothyroidism with reduced TSH values and functional hyperprolactinemia (which is caused by disinhibition of prolactin release). Other endocrine disorders that are usually associated with Pickardt syndrome are suprasellar failures like secondary hypogonadism, reduced levels of growth hormone and, in more severe cases, secondary adrenal insufficiency.

Pigmentation disorders – Disturbances of human skin colour, either loss or reduction, which may be related to loss of melanocytes or the inability of melanocytes to produce melanin or transport melanosomes correctly.

Pituitary disease – A pituitary disease is a disorder primarily affecting the pituitary gland. The main disorders involving the pituitary gland are Acromegaly, Cushing's disease, Growth hormone deficiency, Syndrome of inappropriate antidiuretic hormone secretion.

Polycystic kidney disease – A genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney.

Prostate cancer – Cancer of the prostate. The prostate is a gland in the male reproductive system that surrounds the urethra just below the bladder.

Psoriasis – A long-lasting autoimmune disease characterized by raised areas of abnormal skin. These areas are typically red, or purple on some people with darker skin, dry, itchy, and scaly. Psoriasis varies in severity from small, localized patches to complete body coverage. Injury to the skin can trigger psoriatic skin changes at that spot, which is known as the Koebner phenomenon.

There are five main types of psoriasis: plaque, guttate, inverse, pustular, and erythrodermic. Psoriasis is generally thought to be a genetic disease that is triggered by environmental factors.

 

Schizophrenia – A psychiatric disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdrawal, decreased emotional expression, and apathy.

Sheehan’s syndrome – Also known as postpartum pituitary gland necrosis, is hypopituitarism (decreased functioning of the pituitary gland), caused by ischemic necrosis due to blood loss and hypovolemic shock during and after childbirth.

Sickle cell anaemia – Sickle cell disease is a group of blood disorders typically inherited from a person's parents. The most common type is known as sickle cell anaemia. It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells.

Significant hearing loss– Hearing loss is a partial or total inability to hear. Hearing loss can be categorized as mild (25 to 40 dB), moderate (41 to 55 dB), moderate-severe (56 to 70 dB), severe (71 to 90 dB), or profound (greater than 90 dB). There are three main types of hearing loss: conductive hearing loss, sensorineural hearing loss, and mixed hearing loss.

Skin cancer – Cancers that arise from the skin. They are due to the development of abnormal cells that can invade or spread to other parts of the body. There are three main types of skin cancers: basal-cell skin cancer (BCC), squamous-cell skin cancer (SCC) and melanoma. The first two, along with several less common skin cancers, are known as non-melanoma skin cancer

Speech delay or disorder – Also known as alalia, refers to a delay in the development or use of the mechanisms that produce speech. The warning signs of early speech delay are categorized into age-related milestones, beginning at the age of 12 months and continuing through early adolescence.

Spina bifida – A birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. There are three main types: spina bifida occulta, meningocele and myelomeningocele. Spina bifida is believed to be due to a combination of genetic and environmental factors.

Stroke – A stroke is a medical condition in which poor blood flow to the brain causes cell death. There are two main types of stroke: ischemic, due to lack of blood flow, and haemorrhagic, due to bleeding.

Stomach cancer – Also known as gastric cancer, is a cancer that develops from the lining of the stomach. Most cases of stomach cancers are gastric carcinomas, which can be divided into several subtypes including gastric adenocarcinomas. Lymphomas and mesenchymal tumours may also develop in the stomach.

Syndrome of inappropriate antidiuretic hormone secretion – Characterized by excessive unsuppressible release of antidiuretic hormone (ADH) either from the posterior pituitary gland, or an abnormal non-pituitary source. Unsuppressed ADH causes an unrelenting increase in solute-free water being returned by the tubules of the kidney to the venous circulation.

The causes of SIADH are grouped into six categories: 1) central nervous system diseases that directly stimulate the hypothalamus, the site of control of ADH secretion; 2) various cancers that synthesize and secrete ectopic ADH; 3) various lung diseases; 4) numerous drugs that chemically stimulate the hypothalamus; 5) inherited mutations; and 6) miscellaneous largely transient conditions.

 

Testicular cancer – Cancer that develops in the testicles, a part of the male reproductive system.

Thalassemia – Inherited blood disorders characterized by decreased haemoglobin production. Symptoms depend on the type and can vary from none to severe. Often there is mild to severe anaemia (low red blood cells or haemoglobin).

Thyroid cancer – Cancer that develops from the tissues of the thyroid gland. It is a disease in which cells grow abnormally and have the potential to spread to other parts of the body. Symptoms can include swelling or a lump in the neck. Cancer can also occur in the thyroid after spread from other locations, in which case it is not classified as thyroid cancer. Risk factors include radiation exposure at a young age, having an enlarged thyroid, and family history.

Tourette Syndrome - a common neurodevelopmental disorder that begins in childhood or adolescence. It is characterized by multiple movement (motor) tics and at least one vocal (phonic) tic. Coprolalia (the utterance of obscene words or socially inappropriate and derogatory remarks) occurs only in a minority.

 

Ulcerative colitis – A long term inflammatory bowel disease which causes swelling, ulceration and loss of function of the colon.

Undescended testicle(s) – An undescended testicle (cryptorchidism) is a testicle that hasn't moved into its proper position in the bag of skin hanging below the penis (scrotum) before birth.

Uterine cancer – Also known as womb cancer, are two types of cancer that develops from the tissues of the uterus. Endometrial cancer forms from the lining of the uterus and uterine sarcoma forms from the muscles or support tissue of the uterus.