Conditions and injuries
Each condition with its causes, symptoms, diagnosis and treatment, and links to the structures involved so you can see them in 3D.
1183 conditions
Abdomen
- Acute (viral) gastroenteritisAcute inflammation of the stomach and intestines, most often caused by viruses, with sudden diarrhoea, often…
- Acute appendicitisAcute inflammation of the vermiform appendix, usually after its lumen is blocked. It is the most common…
- Acute cholangitisA bacterial infection of the bile ducts caused by obstruction and stagnant bile. It can progress quickly to…
- Acute cholecystitisAcute inflammation of the gallbladder, in about nine out of ten cases caused by a gallstone blocking the…
- Acute kidney injuryAbrupt fall in kidney function over hours to days, shown by a rise in serum creatinine or a drop in urine…
- Acute mesenteric ischaemiaA sudden loss of blood flow to the intestine, most often in the superior mesenteric artery, that can quickly…
- Acute pancreatitisAcute inflammation of the pancreas from premature activation of its digestive enzymes. Most cases are mild…
- Acute pyelonephritisBacterial infection of the kidney and renal pelvis, usually ascending from the bladder, causing fever, flank…
- Adrenal insufficiencyInadequate production of cortisol, with or without aldosterone, from disease of the adrenal glands (primary…
- Amoebic liver abscessA collection of liquefied liver tissue caused by the parasite Entamoeba histolytica, which spreads from the…
- Autosomal dominant polycystic kidney diseaseInherited disorder in which many fluid-filled cysts grow in both kidneys and enlarge them, gradually…
- CholedocholithiasisPresence of stones in the common bile duct. Most come from the gallbladder (secondary); fewer form in the…
- Chronic kidney diseaseAbnormal kidney structure or function lasting more than 3 months, with implications for health: an eGFR…
- Chronic pancreatitisLong-term inflammation of the pancreas that slowly replaces gland tissue with scar, causing chronic pain…
- CirrhosisThe late stage of chronic liver injury, in which diffuse fibrosis and regenerative nodules replace normal…
- Coeliac diseaseImmune-mediated disease of the small intestine triggered by gluten (from wheat, barley and rye) in…
- Colorectal cancerA malignant tumour of the colon or rectum, almost always an adenocarcinoma arising from a polyp, which can…
- Crohn diseaseChronic, relapsing inflammatory bowel disease that can affect any part of the digestive tract from mouth to…
- Cushing syndromeClinical syndrome caused by long-term exposure to excess glucocorticoid (cortisol), most often from steroid…
- Diverticular disease and diverticulitisDiverticula are small outpouchings of the colon wall (diverticulosis); diverticulitis is their inflammation…
- Femoral herniaProtrusion of preperitoneal fat or bowel through the femoral canal, below the inguinal ligament, felt as a…
- Gallbladder cancerMalignant tumour arising from the lining of the gallbladder, usually an adenocarcinoma. Early disease rarely…
- Gallstones (cholelithiasis)Stones (calculi) in the gallbladder, formed from cholesterol, bilirubin pigment or both. Most people have no…
- Gastric cancerA malignant tumour of the stomach, almost always an adenocarcinoma, that often causes vague symptoms and is…
- Helicobacter pylori gastritisChronic inflammation of the stomach lining caused by Helicobacter pylori, a spiral, urease-producing…
- Hepatocellular carcinomaThe main primary cancer of the liver, arising from hepatocytes, usually in a cirrhotic liver or in chronic…
- Incisional (ventral) herniaA hernia through a weak area in a previous surgical scar of the abdominal wall, most often after a midline…
- Infantile hypertrophic pyloric stenosisThickening of the pyloric muscle in young infants that narrows the stomach outlet and causes progressive…
- Inguinal herniaProtrusion of abdominal contents, such as fat or bowel, through the inguinal canal or its posterior wall…
- Intussusception (children)Telescoping of one segment of bowel into the next, most often the end of the ileum into the colon…
- Irritable bowel syndromeCommon disorder of gut-brain interaction with recurrent abdominal pain linked to bowel movements and a…
- Kidney stones (urolithiasis)Formation of crystalline stones in the kidney (nephrolithiasis) that may move into the ureter, causing acute…
- Large bowel obstructionBlockage of the colon or rectum, usually by a mechanical cause such as cancer or volvulus, that stops the…
- Pancreatic cancerMalignant tumour of the pancreas, almost always a ductal adenocarcinoma. It is often found late, and tumours…
- Peptic ulcer diseaseA break in the lining of the stomach or duodenum that reaches through the muscularis mucosae, caused by an…
- PeritonitisInflammation of the peritoneum, usually from infection. Primary peritonitis arises without a breach of the…
- PhaeochromocytomaRare tumour of the chromaffin cells of the adrenal medulla that releases catecholamines (adrenaline and…
- Portal hypertensionRaised pressure in the portal venous system, defined by a hepatic venous pressure gradient above the normal…
- Sigmoid volvulusTwisting of the sigmoid colon around its mesentery, causing a closed-loop large bowel obstruction that can…
- Small bowel obstructionA blockage of the jejunum or ileum, mechanical or functional, that stops the passage of gut contents and…
- Splenic injuryDamage to the spleen, from a small capsular tear to complete shattering or loss of its blood supply, usually…
- Ulcerative colitisChronic inflammatory bowel disease in which inflammation of the colon's mucosa starts in the rectum and…
- Umbilical herniaProtrusion of fat or bowel through a defect at or next to the umbilical ring. In infants it is a congenital…
- Upper gastrointestinal bleedingBleeding from the digestive tract above the ligament of Treitz (oesophagus, stomach or duodenum). It ranges…
- Viral hepatitisInflammation of the liver caused by the hepatotropic viruses A, B, C, D and E. It can be acute and…
Cardiology
- Arrhythmogenic right ventricular cardiomyopathyArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease of the desmosomes, the…
- Atrial flutterA macro-reentrant atrial tachycardia in which an electrical wave circles the right atrium at about 300 beats…
- Brugada syndromeBrugada syndrome is an inherited channelopathy, a disease of cardiac ion channels in a structurally normal…
- Cardiac arrest (VF, pulseless VT, asystole, PEA)Sudden loss of effective cardiac mechanical activity, with no pulse, no normal breathing and loss of…
- Cardiac tumours (atrial myxoma)Primary cardiac tumours are rare; metastases to the heart are far more common. Myxoma is the most common…
- Cardiogenic shockA state of low cardiac output with tissue hypoperfusion caused by a primary heart problem, typically…
- Constrictive pericarditisConstrictive pericarditis is a chronic condition in which a thickened, fibrotic and often calcified…
- Dilated cardiomyopathyA heart muscle disease with dilation and reduced systolic function of the left ventricle, or both…
- Ebstein anomalyEbstein anomaly is a congenital malformation of the tricuspid valve and right ventricle. The septal and…
- Eisenmenger syndromeEisenmenger syndrome is the end stage of an unrepaired large left-to-right shunt (most often a ventricular…
- Hypertensive emergency and urgencySeverely raised blood pressure, commonly above about 180/120 mmHg. It is a hypertensive emergency when there…
- Hypertrophic cardiomyopathyA genetic heart muscle disease with left ventricular hypertrophy, usually asymmetric and involving the…
- Hypoplastic left heart syndromeHypoplastic left heart syndrome (HLHS) is a critical congenital heart defect in which the left-sided…
- Long QT syndrome and torsades de pointesA disorder of ventricular repolarisation with a prolonged corrected QT interval on the ECG. It may be…
- Mechanical complications of myocardial infarctionStructural problems caused by necrosis of the infarcted myocardium: rupture of a papillary muscle (acute…
- Mitral stenosisNarrowing of the mitral valve opening that obstructs flow from the left atrium to the left ventricle during…
- Mitral valve prolapseMitral valve prolapse (MVP) is the systolic displacement of one or both mitral leaflets more than 2 mm above…
- MyocarditisInflammatory disease of the myocardium, most often triggered by a viral infection, with myocyte injury that…
- Peripartum cardiomyopathyPeripartum cardiomyopathy is heart failure due to left ventricular systolic dysfunction (ejection fraction…
- Postural orthostatic tachycardia syndrome (POTS) and inappropriate sinus tachycardiaPOTS is chronic orthostatic intolerance in which the sinus rate rises excessively on standing, with…
- Premature atrial and ventricular contractionsPremature contractions (extrasystoles) are beats that arise earlier than the next expected sinus beat from…
- Pulmonary hypertension and cor pulmonalePulmonary hypertension is a mean pulmonary arterial pressure above 20 mmHg at rest measured by right heart…
- Pulmonary valve stenosisPulmonary valve stenosis is narrowing of the pulmonary valve that obstructs flow from the right ventricle to…
- Restrictive cardiomyopathy (amyloid, sarcoid, haemochromatosis)Restrictive cardiomyopathy is a disease of the heart muscle in which the ventricles are abnormally stiff, so…
- Sinus node dysfunction (sick sinus syndrome) and symptomatic bradycardiaA disorder of the sinoatrial node, the heart's natural pacemaker, that produces inappropriate sinus…
- Supraventricular tachycardia (AVNRT, AVRT)A group of paroxysmal, regular, narrow-complex tachycardias that use the AV node or tissue above it. The two…
- Syncope (vasovagal, orthostatic hypotension, cardiac)Syncope is a transient loss of consciousness and postural tone caused by global cerebral hypoperfusion, with…
- Takotsubo (stress) cardiomyopathyTakotsubo cardiomyopathy, also called stress cardiomyopathy, broken heart syndrome or apical ballooning…
- Transposition of the great arteriesIn dextro-transposition of the great arteries (d-TGA) the aorta arises from the right ventricle and the…
- Tricuspid regurgitation and tricuspid valve diseaseTricuspid regurgitation (TR) is backflow of blood from the right ventricle into the right atrium during…
- Truncus arteriosus, TAPVR and tricuspid atresiaThis page groups three less common cyanotic congenital heart defects (part of the classic «5 Ts» with…
- Vasospastic (Prinzmetal) anginaVasospastic angina, also called variant or Prinzmetal angina, is myocardial ischaemia caused by a transient…
- Ventricular tachycardiaA tachycardia of three or more consecutive beats arising below the bundle of His, usually above 100 beats…
- Wolff-Parkinson-White syndromeA congenital accessory pathway (bundle of Kent) connects atrium and ventricle outside the atrioventricular…
Chest
- AchalasiaA primary motility disorder in which the lower oesophageal sphincter fails to relax on swallowing and…
- Acute pericarditisAcute inflammation of the pericardium, the sac around the heart, causing sharp chest pain and sometimes a…
- Acute respiratory distress syndrome (ARDS)Acute, diffuse inflammatory lung injury with leaky alveolar capillaries, causing non-cardiogenic pulmonary…
- Aortic regurgitationBackflow of blood from the aorta into the left ventricle during diastole because the aortic valve does not…
- Aortic Valve StenosisNarrowing of the aortic valve opening that obstructs blood flow from the left ventricle.
- AsthmaChronic inflammatory disease of the airways with variable, largely reversible airflow obstruction and…
- Atrial fibrillationThe most common sustained arrhythmia: disorganised electrical activity in the atria replaces normal sinus…
- Atrial septal defectAn opening in the interatrial septum that lets blood pass between the atria, usually from left to right. It…
- Atrioventricular (heart) blockDelay or interruption of conduction from the atria to the ventricles through the atrioventricular node or…
- BronchiectasisPermanent, abnormal widening of the bronchi with chronic inflammation and poor mucus clearance, causing a…
- Cardiac tamponadeLife-threatening compression of the heart by fluid, blood or pus in the pericardial sac, which prevents the…
- Chagas cardiomyopathyChronic heart disease caused by the parasite Trypanosoma cruzi, which appears years after infection with…
- Chronic obstructive pulmonary disease (COPD)Common, preventable lung disease with persistent respiratory symptoms and airflow limitation that is not…
- Coarctation of the aortaA narrowing of the aorta, usually at the isthmus just beyond the left subclavian artery near the ligamentum…
- Community-acquired pneumoniaAcute infection of the lung parenchyma acquired outside hospital, with new infiltrate on imaging and…
- CostochondritisInflammation of the cartilage where the ribs join the sternum, causing sharp anterior chest pain that is…
- Flail chestA segment of chest wall that has lost its bony continuity because several adjacent ribs are each broken in…
- Gastro-oesophageal reflux disease (GERD)Condition in which reflux of stomach contents into the oesophagus causes troublesome symptoms, such as…
- GynaecomastiaBenign enlargement of the male breast caused by growth of glandular tissue, felt as a firm, rubbery disc…
- HaemothoraxBlood in the pleural space, most often after chest trauma. A large amount compresses the lung and causes…
- Heart failureA clinical syndrome in which the heart cannot pump enough blood for the body's needs, or can do so only at…
- Hypertensive heart diseaseThe changes that long-standing high blood pressure causes in the heart: left ventricular hypertrophy…
- Infective endocarditisInfection of the endocardial surface of the heart, usually a heart valve, forming vegetations of fibrin…
- Interstitial lung diseaseA group of disorders that inflame and scar the lung interstitium around the alveoli, causing progressive…
- Lung cancerMalignant tumour arising from the bronchial or alveolar epithelium, divided into non-small cell lung cancer…
- Mitral regurgitationBackflow of blood from the left ventricle into the left atrium during systole because the mitral valve does…
- Myocardial Infarction (Heart Attack)Death of heart muscle due to prolonged lack of blood supply, usually from a blocked coronary artery. It is a…
- Oesophageal cancerA malignant tumour of the oesophagus, mostly squamous cell carcinoma (linked to tobacco and alcohol) or…
- Patent ductus arteriosusPersistence after birth of the ductus arteriosus, the fetal vessel that joins the pulmonary artery to the…
- Pleural effusionAbnormal collection of fluid in the pleural space, between the parietal and visceral pleura. It is a sign of…
- PneumothoraxAir in the pleural space that partly or fully collapses the lung. It can be spontaneous, traumatic or…
- Pulmonary embolismBlockage of a pulmonary artery or its branches, usually by a blood clot that has travelled from the deep…
- Pulmonary tuberculosisInfection of the lungs by Mycobacterium tuberculosis, spread through the air by people with active disease…
- Rheumatic heart diseasePermanent damage to the heart valves, mainly the mitral and aortic, after one or more episodes of acute…
- Rib fracturesA break in one or more ribs, usually from blunt chest trauma. The pain limits breathing and coughing, and in…
- Stable anginaPredictable chest pain or discomfort brought on by exertion or emotion and relieved by rest or nitrates…
- Tetralogy of FallotA cyanotic congenital heart defect with four features: a ventricular septal defect, right ventricular…
- Ventricular septal defectAn opening in the interventricular septum that lets blood flow between the ventricles, usually from left to…
Dermatology
- Abscess, furuncle and carbunclePurulent skin and soft-tissue infections. A skin abscess is a collection of pus in the dermis and…
- Acanthosis nigricansA skin change with symmetric, hyperpigmented, velvety and thickened plaques in skin folds. It is not a…
- Acne vulgarisA chronic inflammatory disease of the pilosebaceous unit (hair follicle and sebaceous gland) that produces…
- Actinic keratosisA common premalignant lesion of sun-exposed skin made of atypical keratinocytes confined to the epidermis…
- Alopecia areataA chronic, non-scarring autoimmune hair loss in which the immune system attacks growing (anagen) hair…
- Atopic dermatitisA chronic, relapsing, inflammatory skin disease with intense itch, dry skin and eczematous lesions in…
- Basal cell carcinomaA slow-growing malignant tumour arising from the basal layer of the epidermis and hair follicles, usually on…
- Bullous pemphigoidThe most common autoimmune blistering disease, in which autoantibodies against hemidesmosome proteins (BP180…
- Contact dermatitis (irritant and allergic)Inflammation of the skin caused by an external substance. Irritant contact dermatitis is direct, non-immune…
- Cutaneous and mucocutaneous candidiasisInfection of the skin, nails or mucous membranes by Candida yeasts, mainly Candida albicans, which normally…
- Cutaneous drug reactions and DRESSSkin reactions caused by medicines are among the most frequent adverse drug events. Most are benign…
- Cutaneous larva migransA parasitic skin infection caused by larvae of animal hookworms that penetrate human skin but cannot…
- Cutaneous squamous cell carcinomaA malignant tumour of the keratinocytes of the epidermis, usually on chronically sun-exposed skin. It often…
- Dermatitis herpetiformisA chronic autoimmune blistering disease that is the cutaneous manifestation of gluten-sensitive enteropathy…
- Dermatophytosis (tinea) and onychomycosisSuperficial infections of keratinised tissue (stratum corneum, hair and nails) by dermatophyte fungi. They…
- Diaper dermatitisAn inflammatory rash of the skin covered by a diaper (nappy). The commonest form is irritant contact…
- Discoid lupus erythematosusThe most common form of chronic cutaneous lupus erythematosus: an autoimmune, photosensitive dermatosis with…
- Epidermolysis bullosa acquisitaA chronic acquired autoimmune subepidermal blistering disease caused by autoantibodies against type VII…
- Erythema multiformeAn acute immune-mediated reaction of the skin and sometimes mucosae, characterised by typical target lesions…
- Erythema nodosumThe most common form of panniculitis: a delayed hypersensitivity reaction in the subcutaneous fat producing…
- Hidradenitis suppurativaA chronic, recurrent inflammatory disease of the hair follicle (follicular occlusion) affecting apocrine…
- ImpetigoA superficial bacterial infection of the epidermis caused by Staphylococcus aureus, Streptococcus pyogenes…
- Infantile hemangiomaThe most common benign tumour of infancy: a proliferation of endothelial cells that appears in the first…
- Kaposi sarcomaA low-grade vascular tumour of lymphatic endothelial origin caused by human herpesvirus 8 (HHV-8, Kaposi…
- Keloid and hypertrophic scarAbnormal fibroproliferative healing responses with excess collagen. A hypertrophic scar is raised but stays…
- Lichen planusA chronic, T cell–mediated inflammatory disease of the skin, mucous membranes, hair and nails. Skin lesions…
- Melanocytic nevi and dysplastic nevusBenign proliferations of melanocytes (naevus cells) in the epidermis, dermis or both, appearing as round…
- MelanomaA malignant tumour of melanocytes, the pigment-producing cells of the skin (and, less often, of the eye and…
- MelasmaAn acquired, chronic and relapsing disorder of pigmentation that produces symmetric, light-to-dark brown…
- Molluscum contagiosumA benign infection of the epidermis caused by the molluscum contagiosum virus, a poxvirus. It produces…
- Mucous membrane (cicatricial) pemphigoidA group of chronic autoimmune subepithelial blistering diseases that mainly affect mucous membranes (mouth…
- Pediculosis (head, body and pubic lice)Infestation of the human body by blood-sucking lice: the head louse (Pediculus humanus capitis), the body…
- Pemphigus vulgarisA chronic autoimmune blistering disease in which IgG autoantibodies against desmogleins (the glue proteins…
- Pityriasis roseaAn acute, self-limited papulosquamous eruption of the trunk and proximal limbs, typically beginning with a…
- Pityriasis versicolorA chronic, recurrent superficial fungal infection of the stratum corneum caused by Malassezia yeasts, which…
- Polymorphous light eruptionThe most common idiopathic photodermatosis: a delayed immune reaction to ultraviolet (UVA and/or UVB) light…
- Pressure injury (pressure ulcer)Localised damage to the skin and underlying soft tissue, usually over a bony prominence or under a medical…
- PsoriasisA chronic, immune-mediated inflammatory disease in which skin cells multiply too fast, forming…
- Pyoderma gangrenosumA non-infectious neutrophilic dermatosis in which a tender pustule or nodule breaks down into a rapidly…
- RosaceaA chronic, relapsing inflammatory disease of the central face characterised by flushing, persistent redness…
- ScabiesA contagious infestation of the epidermis by the mite Sarcoptes scabiei var. hominis, which causes intense…
- Seborrheic dermatitisA chronic, relapsing inflammatory skin disease of the areas rich in sebaceous glands (scalp, eyebrows, sides…
- Seborrheic keratosisThe most common benign epidermal tumour: a proliferation of keratinocytes that forms a well-defined, waxy…
- Staphylococcal scalded skin syndromeA blistering disease caused by exfoliative toxins from Staphylococcus aureus, released at a distant, often…
- Stevens–Johnson syndrome and toxic epidermal necrolysisStevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are one spectrum of severe mucocutaneous…
- Sweet syndrome (acute febrile neutrophilic dermatosis)An acute neutrophilic dermatosis with abrupt onset of tender, red-to-violaceous papules, plaques or nodules…
- Tungiasis and furuncular myiasisTwo parasitic skin infestations that produce painful nodules and are frequent in rural tropical areas. In…
- Urticaria and angioedemaUrticaria is a transient eruption of itchy wheals caused by swelling of the superficial dermis. Angioedema…
- Viral warts (verruca)Benign proliferations of the epidermis caused by infection of keratinocytes with human papillomavirus (HPV)…
- VitiligoAn acquired, chronic depigmenting disorder in which melanocytes are lost from the epidermis, producing…
Emergency medicine and toxicology
- Accidental hypothermiaAn unintentional fall in core body temperature below 35 °C, when heat loss exceeds the body's ability to…
- Acute alcohol (ethanol) intoxicationThe reversible but potentially lethal effects of recent ethanol intake. It ranges from disinhibition and…
- Anticholinergic toxicity (incl. scopolamine «burundanga»)A toxidrome caused by antagonism of muscarinic acetylcholine receptors. Classic sources are scopolamine…
- Anticoagulant poisoning (warfarin and superwarfarins)Poisoning by coumarin-type anticoagulants that block vitamin K recycling in the liver: excess of the…
- Anticonvulsant toxicity (phenytoin, carbamazepine, valproate)Toxicity from overdose or excess blood levels of antiseizure medicines, mainly phenytoin, carbamazepine and…
- Benzodiazepine overdosePoisoning from excessive intake of a benzodiazepine (e.g. diazepam, clonazepam, alprazolam, lorazepam…
- Beta-blocker and calcium-channel-blocker overdoseToxicity from an excess of beta-adrenergic blockers or calcium-channel blockers, two classes widely used for…
- Cannabis toxicity and cannabinoid hyperemesis syndromeTwo related problems. Acute cannabis intoxication causes euphoria or anxiety, red eyes, fast heart rate and…
- Caustic ingestionInjury to the upper airway and digestive tract after swallowing corrosive substances: alkalis (lye in drain…
- Cocaine and sympathomimetic toxicityAcute toxicity from cocaine (powder, crack, «basuco») and other sympathomimetics such as amphetamines…
- Coral snake envenomation (Micrurus)Envenomation by coral snakes (genus Micrurus, family Elapidae), called «accidente elapídico» in Colombia…
- Decompression sickness and diving injuriesDecompression illness covers two bubble disorders of divers and others exposed to pressure changes…
- Digoxin toxicityPoisoning by digoxin or other cardiac glycosides, either from an acute overdose or, more often, from gradual…
- DrowningRespiratory impairment from submersion or immersion in liquid. Outcomes are described as fatal or non-fatal…
- Electrical and lightning injuryInjury to the skin and deep tissues caused by electric current (low or high voltage) or by a lightning…
- Foreign-body airway obstruction (choking)Partial or complete blockage of the upper airway (larynx or trachea) by food or an object. Complete…
- FrostbiteA cold injury in which tissue actually freezes, usually in the fingers, toes, ears, nose and cheeks. Ice…
- Heat stroke and heat exhaustionHeat-related illnesses caused when the body cannot lose enough heat. Heat exhaustion causes weakness and…
- High-altitude illness (AMS, HACE, HAPE)A group of illnesses caused by low oxygen pressure (hypobaric hypoxia) after a fast ascent, usually above…
- Hydrocarbon ingestion and aspirationPoisoning from swallowing, inhaling or aspirating petroleum products and solvents (kerosene, gasoline…
- Hymenoptera stings (bees, wasps, ants)Reactions to the venom of bees, wasps, hornets and ants. They range from a painful local wheal to large…
- Iron poisoningToxicity after ingestion of iron-containing supplements. Free iron is corrosive to the gastrointestinal…
- Isoniazid toxicityToxicity of isoniazid, a first-line tuberculosis drug. Acute overdose produces the classic triad of seizures…
- Local anaesthetic systemic toxicity (LAST)Local anaesthetic systemic toxicity (LAST) happens when a local anaesthetic such as lidocaine or bupivacaine…
- Mammalian bites (dog, cat, human)Wounds caused by the bite of a dog, cat, human or other mammal. Dog bites crush and tear tissue; cat bites…
- Marine envenomations and seafood poisoning (ciguatera, scombroid, jellyfish, stingray)A group of emergencies caused by marine toxins. Some are eaten: ciguatera (toxins built up in reef fish)…
- Mushroom poisoning (Amanita)Poisoning from eating toxic wild mushrooms. The most dangerous are amatoxin-containing species, mainly…
- Neurogenic shockA form of distributive shock caused by loss of sympathetic tone after an injury to the cervical or upper…
- Opioid overdoseLife-threatening poisoning by opioids (heroin, morphine, fentanyl, methadone, tramadol and others) in which…
- Organophosphate and carbamate poisoningPoisoning by insecticides that inhibit acetylcholinesterase, so acetylcholine builds up at nerve endings and…
- Paraquat poisoningPoisoning by paraquat, a bipyridyl contact herbicide used in agriculture. There is no antidote; after…
- Salicylate (aspirin) toxicityPoisoning from an acute overdose or chronic excess of aspirin or other salicylates (including methyl…
- Scorpion envenomation (Tityus)Poisoning from a scorpion sting («escorpionismo» or «alacranismo»). In Colombia the medically important…
- Snakebite envenomation (Bothrops, Lachesis, Crotalus)Injury and poisoning caused when a venomous snake injects venom through a bite. In Colombia the medically…
- Spider bites (loxoscelism and latrodectism)Envenomation by medically important spiders. Recluse or corner spiders (Loxosceles) cause loxoscelism: a…
- Theophylline toxicityToxicity from theophylline or aminophylline, methylxanthine bronchodilators with a narrow therapeutic…
- Tricyclic antidepressant overdosePoisoning by tricyclic antidepressants (amitriptyline, imipramine, clomipramine, nortriptyline and others)…
Endocrinology
- Acromegaly and gigantismA chronic disease caused by excess growth hormone (GH) and its mediator IGF-1, nearly always from a…
- Adrenal crisisAn acute, life-threatening deficiency of cortisol (and in primary disease, aldosterone) presenting with…
- Adrenal incidentalomaAn adrenal mass, usually 1 cm or larger, discovered on imaging performed for a reason other than suspected…
- Adrenocortical carcinomaA malignant tumour of the adrenal cortex. Most secrete hormones, especially cortisol and androgens…
- Androgen insensitivity syndromeAn X-linked difference of sex development in which a 46,XY person with testes cannot respond normally to…
- Autoimmune polyendocrine syndromes (APS-1, APS-2) and IPEXSyndromes in which autoimmunity damages two or more endocrine glands, often together with non-endocrine…
- Diabetes insipidus (central and nephrogenic)A disorder of water balance in which the kidneys cannot concentrate urine, because of deficient secretion of…
- Euthyroid sick syndrome (non-thyroidal illness)A pattern of abnormal thyroid function tests in patients with acute or chronic non-thyroidal illness…
- Fibrous dysplasia of bone and McCune–Albright syndromeA non-inherited bone disorder in which areas of normal bone and marrow are replaced by fibrous tissue and…
- Follicular, oncocytic (Hürthle cell) and anaplastic thyroid carcinomaA group of cancers arising from the thyroid follicular cells. Follicular carcinoma and its oncocytic…
- Hyperosmolar hyperglycaemic stateAn acute, life-threatening complication of diabetes defined by marked hyperglycaemia, high serum osmolality…
- Hypoglycaemia (including insulin-induced)A blood glucose level low enough to cause symptoms or put the brain at risk, usually below 70 mg/dL in…
- Hypoparathyroidism (incl. post-thyroidectomy hypocalcaemia)A deficiency of parathyroid hormone (PTH) causing low blood calcium and high phosphate. The most common…
- Hypopituitarism (incl. Sheehan syndrome and pituitary apoplexy)Partial or complete loss of anterior (and sometimes posterior) pituitary hormone secretion, from disease of…
- InsulinomaA neuroendocrine tumour of the pancreatic islet beta cells that secretes insulin without regulation and…
- Male hypogonadismA clinical syndrome of testosterone deficiency, impaired sperm production, or both. Primary…
- Medullary thyroid carcinomaA neuroendocrine malignancy arising from the parafollicular (C) cells of the thyroid, which derive from the…
- Multiple endocrine neoplasia (MEN 1, 2A, 2B)A group of autosomal dominant syndromes in which tumours develop in two or more endocrine glands. MEN 1…
- Myxoedema comaDecompensated severe hypothyroidism with altered mental status, hypothermia and failure of several organ…
- OsteopetrosisA group of inherited disorders in which osteoclasts fail to resorb bone. Bone keeps being formed but is not…
- Paget disease of boneA localised disorder of bone remodelling in which overactive osteoclasts are followed by disorganised new…
- Peripheral neuropathy (diabetic and other)Damage to the peripheral nerves that causes sensory, motor or autonomic symptoms. The commonest pattern is a…
- Primary hyperaldosteronism (Conn syndrome)Autonomous overproduction of aldosterone by one or both adrenal glands, independent of renin. It is the most…
- Prolactinoma (hyperprolactinaemia)A benign tumour of the lactotroph cells of the anterior pituitary that secretes excess prolactin. It is the…
- Thyroid stormAn extreme, decompensated form of thyrotoxicosis in which excess thyroid hormone causes fever…
- Thyroiditis (subacute, painless and postpartum)A group of inflammatory thyroid disorders in which damaged follicles release stored hormone, causing…
Gastroenterology and hepatology
- Acute liver failureRapid severe liver injury with coagulopathy (INR of 1.5 or more) and hepatic encephalopathy in a person…
- Anal fissureA linear tear or ulcer in the lining (anoderm) of the anal canal below the dentate line, almost always in…
- Ascites and spontaneous bacterial peritonitisAscites is the accumulation of fluid in the peritoneal cavity, most often from portal hypertension in…
- Autoimmune hepatitisA chronic, immune-mediated inflammatory disease of the liver characterised by raised aminotransferases…
- Barrett oesophagusReplacement of the normal stratified squamous lining of the distal oesophagus by columnar epithelium with…
- Benign liver lesions (haemangioma, focal nodular hyperplasia, adenoma)A group of non-malignant solid liver masses. The three most examined are haemangioma (a vascular…
- Budd-Chiari syndromeObstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the…
- Chagasic megaoesophagus and megacolonThe digestive form of chronic Chagas disease, in which destruction of the enteric nerves by Trypanosoma…
- Cholangiocarcinoma (bile duct cancer)A malignant tumour, almost always an adenocarcinoma, arising from the epithelium of the bile ducts inside or…
- Choledochal cystA congenital cystic dilatation of the extrahepatic and/or intrahepatic bile ducts, classified by the Todani…
- Clostridioides difficile infectionColitis caused by toxins of Clostridioides difficile, a spore-forming anaerobic gram-positive bacillus. It…
- Colorectal polyps and hereditary polyposis syndromes (FAP, Lynch)Growths that project from the lining (mucosa) of the colon or rectum. Adenomatous and serrated polyps are…
- Constipation and faecal impactionConstipation means infrequent (fewer than three per week), hard or difficult bowel movements, or a feeling…
- Distal oesophageal spasm and hypercontractile oesophagusPrimary motility disorders of the oesophageal smooth muscle. In distal oesophageal spasm, contractions are…
- Drug-induced liver injuryLiver injury caused by prescription or over-the-counter medicines, herbal remedies or dietary supplements…
- Dumping syndrome (rapid gastric emptying)A set of digestive and circulatory symptoms caused by abnormally rapid passage of food, especially sugars…
- Eosinophilic oesophagitisA chronic, immune- or antigen-mediated disease of the oesophagus defined by symptoms of oesophageal…
- Functional dyspepsiaA common disorder of gut–brain interaction in which a person has bothersome, recurrent upper abdominal…
- Gastroparesis (delayed gastric emptying)A chronic disorder in which the stomach empties solid food abnormally slowly without any mechanical…
- Hepatic encephalopathyA spectrum of neuropsychiatric changes caused by liver insufficiency or portosystemic shunting, after other…
- Hepatorenal syndromeA functional kidney failure in patients with cirrhosis and ascites (or acute liver failure) caused by…
- Hiatal herniaProtrusion of part of the stomach, and sometimes other abdominal organs, through the oesophageal hiatus of…
- Infectious and pill-induced oesophagitis (Candida, HSV, CMV)Inflammation and ulceration of the oesophageal lining caused by an infection, mainly Candida, herpes simplex…
- Ischaemic colitisThe most common form of intestinal ischaemia: a usually transient reduction of blood flow to the colon that…
- Lower gastrointestinal bleedingBleeding that originates in the colon, rectum or anus. It usually shows as hematochezia (bright red or…
- Mallory-Weiss syndromeUpper gastrointestinal bleeding from a longitudinal mucosal laceration at the gastro-oesophageal junction or…
- Ménétrier disease (hypertrophic protein-losing gastropathy)A rare acquired hyperplastic gastropathy in which overgrowth of the mucus-producing (foveolar) cells creates…
- Metabolic dysfunction-associated steatotic liver disease (MASLD/NAFLD)Hepatic steatosis in a person with at least one cardiometabolic risk factor and no other cause of fat in the…
- Microscopic colitisA chronic inflammatory disease of the colon that causes watery, non-bloody diarrhoea. The lining looks…
- Oesophageal perforation (Boerhaave syndrome)A full-thickness disruption of the oesophageal wall that lets oesophageal and gastric contents leak into the…
- Paralytic ileus and colonic pseudo-obstruction (Ogilvie)A functional failure of intestinal peristalsis with no mechanical obstruction. Paralytic ileus usually…
- Portal vein thrombosisPartial or complete blockage of the portal vein by a thrombus, sometimes extending into the splenic or…
- Primary biliary cholangitisA chronic autoimmune disease in which the immune system destroys the small bile ducts inside the liver. Bile…
- Primary sclerosing cholangitisA chronic, progressive disease in which inflammation and fibrosis narrow the bile ducts inside and outside…
- Pyogenic liver abscessA collection of pus within the liver caused by bacterial infection. It most often arises from infection of…
- Short bowel syndromeA malabsorption state that results from loss of a large length of functioning small bowel, usually after…
- Small intestinal bacterial overgrowth (SIBO)A condition in which the number or type of bacteria in the small intestine is abnormally high, usually…
- Tropical sprueAn acquired malabsorption syndrome of the small intestine that affects residents of, or long-stay visitors…
- Whipple diseaseA rare chronic systemic infection caused by the bacterium Tropheryma whipplei. It infiltrates the small…
- Zenker diverticulum (pharyngo-oesophageal diverticulum)An acquired outpouching of the mucosa and submucosa through a weak area in the posterior wall of the lower…
- Zollinger-Ellison syndrome (gastrinoma)A syndrome caused by a gastrin-secreting neuroendocrine tumour (gastrinoma), usually in the duodenum or…
Geriatrics
- Dementia (major neurocognitive disorder)An acquired, usually progressive decline in one or more cognitive domains (memory, language, executive…
- Elder abuse and neglectA single or repeated act, or a failure to act, within a relationship of trust that causes harm or distress…
- Falls in older adultsAn event in which a person unintentionally comes to rest on the ground or a lower level. In older adults it…
- Fecal incontinenceThe recurrent involuntary loss of liquid or solid stool (and, in a broad sense, gas). Continence depends on…
- Frailty syndromeA clinical syndrome of decreased physiological reserve and resistance to stressors across several body…
- Immobility syndrome and hospital-associated deconditioningA geriatric syndrome in which a marked reduction in the ability to move leads to a decline in function and…
- Incontinence-associated dermatitisA form of moisture-associated skin damage in which repeated or prolonged exposure to urine and/or stool…
- Malnutrition and unintentional weight loss in older adultsAn imbalance in which intake of energy, protein or nutrients does not meet the body's needs, leading to loss…
- Mild cognitive impairmentA syndrome of objective decline in one or more cognitive domains (memory, attention, language, executive or…
- Oropharyngeal dysphagia in older adultsA swallowing disorder of the oral or pharyngeal phase, in which food, liquid or saliva are not moved safely…
- Polypharmacy and potentially inappropriate medications in older adultsThe concurrent use of multiple medicines, often defined as five or more, together with the prescription of…
- SarcopeniaA progressive and generalised skeletal muscle disorder in which low muscle strength, together with low…
- Skin tears in older adultsA traumatic wound caused by mechanical forces, including removal of adhesives, in which the epidermis…
- Urinary incontinence in older adults (urge, overflow, functional)Any involuntary loss of urine. In older adults it is a geriatric syndrome with several types: urge…
Head and neck
- Acute angle-closure glaucomaSudden rise in intraocular pressure because the iris blocks the drainage angle of the eye, so aqueous humour…
- Acute otitis mediaAcute infection of the middle ear with fluid behind a bulging, inflamed eardrum, usually following a cold…
- Acute rhinosinusitisInflammation of the nose and paranasal sinuses lasting less than 4 weeks, with blocked nose or purulent…
- Age-related macular degenerationProgressive degeneration of the macula in older adults, affecting the retinal pigment epithelium, Bruch…
- Allergic rhinitisIgE-mediated inflammation of the nasal mucosa after exposure to allergens, with sneezing, itching, watery…
- Alzheimer diseaseA progressive neurodegenerative disease and the most common cause of dementia. It typically begins with loss…
- Bacterial meningitisAcute bacterial infection of the meninges and the cerebrospinal fluid around the brain and spinal cord. It…
- Bell palsySudden weakness or paralysis of one side of the face from an idiopathic lesion of the facial nerve (cranial…
- Benign paroxysmal positional vertigo (BPPV)Brief spells of spinning vertigo triggered by changes in head position, caused by loose otoconia (calcium…
- Carotid artery stenosisNarrowing of the carotid artery, almost always from atherosclerotic plaque at the bifurcation and origin of…
- CataractClouding of the eye's lens that scatters light and gradually blurs vision. It is the leading cause of…
- Cervical lymphadenopathyEnlargement of the lymph nodes of the neck. Most cases are reactive to infection and resolve; persistent…
- Chalazion and hordeolum (stye)Two common eyelid lumps. A hordeolum (stye) is an acute painful infection of an eyelid gland; a chalazion is…
- Cleft lip and palateA congenital gap in the upper lip, the palate, or both, caused by incomplete fusion of facial processes in…
- ConjunctivitisInflammation of the conjunctiva, the thin membrane that lines the eyelids and covers the white of the eye…
- Deep neck infection and Ludwig anginaA bacterial infection, cellulitis or abscess, in the spaces between the deep layers of cervical fascia…
- Dental cariesLocalised destruction of tooth enamel, then dentine, by acids that plaque bacteria make from dietary sugars…
- Diabetic retinopathyDamage to the small blood vessels of the retina caused by long-standing diabetes. It ranges from leaky…
- Epidural haematomaA collection of blood between the inner table of the skull and the dura mater, usually after a skull…
- Epilepsy and seizuresA brain disorder with an enduring tendency to unprovoked seizures. A seizure is a transient burst of…
- Epistaxis (nosebleed)Bleeding from the nose. Most cases are anterior, from Kiesselbach's plexus (Little's area) on the nasal…
- Giant cell arteritisGranulomatous vasculitis of large and medium arteries in people over 50, typically the branches of the…
- GlioblastomaThe most common and most aggressive primary malignant brain tumour in adults, arising from glial cells. It…
- GoitreEnlargement of the thyroid gland, diffuse or nodular, which may occur with normal, low or high thyroid…
- Graves disease (hyperthyroidism)Autoimmune disease in which antibodies stimulate the TSH receptor, making the thyroid overproduce hormone…
- HydrocephalusAbnormal build-up of cerebrospinal fluid in the ventricles of the brain, which enlarge and may raise…
- HypothyroidismDeficiency of thyroid hormone that slows the body's metabolism. It is usually primary, from failure of the…
- Intracerebral haemorrhageBleeding directly into the brain tissue from a ruptured small artery, causing a sudden focal deficit…
- Ischaemic strokeSudden loss of brain function caused by blockage of an artery supplying the brain, so that part of the brain…
- Laryngeal cancerMalignant tumour of the larynx, almost always squamous cell carcinoma. It can arise above, at or below the…
- Mandible fractureBreak of the mandible (lower jaw), often at more than one site because the bone forms a ring with the two…
- Ménière diseaseInner ear disorder with recurrent attacks of vertigo, fluctuating sensorineural hearing loss, tinnitus and…
- MigraineA common primary headache disorder with recurrent attacks of usually one-sided, throbbing headache with…
- Multiple sclerosisA chronic immune-mediated disease of the central nervous system in which inflammation destroys myelin and…
- MumpsAn acute viral infection caused by the mumps virus (a paramyxovirus) that typically produces painful…
- NeurocysticercosisInfection of the brain by the larval cysts of the pork tapeworm Taenia solium. It is the commonest parasitic…
- Obstructive sleep apnoeaRepeated partial or complete collapse of the upper airway during sleep, causing pauses in breathing, drops…
- Open-angle glaucomaChronic, progressive optic neuropathy in which retinal ganglion cell axons are lost, the optic disc becomes…
- Orbital cellulitisInfection of the soft tissues of the orbit behind the orbital septum, usually spreading from the ethmoid…
- Orbital floor (blowout) fractureFracture of the orbital floor (and sometimes the medial wall) caused by a blow to the eye, with the orbital…
- Otitis externaInflammation and infection of the external ear canal, usually bacterial. Often called «swimmer's ear»…
- Parkinson diseaseA progressive neurodegenerative disease caused mainly by loss of dopamine-producing neurones in the…
- Parotid gland tumoursA benign or malignant neoplasm of the parotid gland. Most are benign, chiefly pleomorphic adenoma and…
- PeriodontitisChronic inflammation of the tissues that support the teeth, driven by bacterial plaque, which destroys the…
- Peritonsillar abscessCollection of pus between the capsule of the palatine tonsil and the superior pharyngeal constrictor muscle…
- Pituitary adenomaA benign tumour of the anterior pituitary gland. It can cause symptoms by secreting excess hormone, by…
- Presbycusis (age-related hearing loss)Gradual, bilateral, symmetrical sensorineural hearing loss that comes with ageing, affecting high…
- Primary hyperparathyroidismExcess parathyroid hormone made by one or more parathyroid glands, usually a single benign adenoma, causing…
- Retinal detachmentSeparation of the neurosensory retina from the underlying retinal pigment epithelium, cutting off its blood…
- Sialolithiasis (salivary stones)Formation of a calculus (stone) inside a salivary gland or its duct, which blocks saliva flow and causes…
- Strabismus and amblyopiaStrabismus is misalignment of the eyes; amblyopia («lazy eye») is reduced vision in an eye whose visual…
- Streptococcal pharyngitisAcute infection of the pharynx and palatine tonsils by group A Streptococcus (Streptococcus pyogenes). It…
- Subarachnoid haemorrhageBleeding into the subarachnoid space around the brain. Non-traumatic cases are most often due to a ruptured…
- Subdural haematomaA collection of blood between the dura mater and the arachnoid, usually from torn bridging veins. It can be…
- Temporomandibular disorderA group of painful or dysfunctional conditions of the temporomandibular joint and the chewing muscles…
- Tension-type headacheA primary headache with bilateral pressing or tightening pain of mild to moderate intensity, not worsened by…
- Thyroid cancer (papillary)A malignant tumour of the thyroid. Papillary carcinoma is by far the most common type and usually has an…
- Thyroid noduleA discrete lesion within the thyroid gland that is distinct from the surrounding tissue on palpation or…
- Transient ischaemic attackA brief episode of focal neurological dysfunction caused by ischaemia of the brain, spinal cord or retina…
- Traumatic brain injuryBrain damage caused by an external force such as a blow, fall or acceleration–deceleration. It ranges from…
- Trigeminal neuralgiaA chronic pain disorder with sudden, brief, electric shock-like attacks of pain in one or more divisions of…
- UveitisInflammation of the uvea, the pigmented middle layer of the eye made up of the iris, ciliary body and…
- Vestibular schwannoma (acoustic neuroma)Benign, slow-growing tumour of the Schwann cells of the vestibular part of the vestibulocochlear nerve…
Hematology and oncology
- Acute leukaemia (AML and ALL)A group of blood cancers in which immature white cells (blasts) multiply in the bone marrow and crowd out…
- Anaemia of chronic disease (anaemia of inflammation)A usually mild to moderate, normocytic or slightly microcytic anaemia that develops in chronic inflammatory…
- Anal cancerA malignant tumour of the anal canal or perianal skin, in most cases a squamous cell carcinoma caused by…
- Aplastic anaemiaA rare bone marrow failure in which the blood-forming stem cells are lost and the marrow becomes empty and…
- Asplenia and hyposplenismAbsence of the spleen (asplenia) or loss of its function (hyposplenism), after surgery, from disease or from…
- Autoimmune haemolytic anaemiaAn acquired anaemia in which autoantibodies coat red blood cells and shorten their life. In the warm type…
- Carcinoma of unknown primaryA biopsy-proven metastatic cancer for which the primary site is not found after a standard work-up of…
- Castleman diseaseRare lymphoproliferative disorders with a typical lymph node histology. The unicentric form affects one node…
- Chronic lymphocytic leukaemiaA chronic lymphoproliferative neoplasm of small, mature-looking but dysfunctional CD5-positive B lymphocytes…
- Chronic myeloid leukaemiaA myeloproliferative neoplasm in which a haematopoietic stem cell carrying the BCR-ABL1 fusion gene produces…
- Disseminated intravascular coagulationAn acquired syndrome in which widespread activation of coagulation forms microthrombi in small vessels and…
- Dyskeratosis congenita and other telomere biology disordersAn inherited bone marrow failure syndrome caused by defective telomere maintenance, with the triad of nail…
- Essential thrombocythaemia and primary myelofibrosisTwo Philadelphia-negative myeloproliferative neoplasms caused by acquired mutations in a blood stem cell. In…
- Febrile neutropeniaFever in a patient with a low absolute neutrophil count, most often after cancer chemotherapy. Widely used…
- Gastrointestinal stromal tumour (GIST)A mesenchymal tumour of the digestive tract that arises from the interstitial cells of Cajal, the pacemaker…
- Graft-versus-host diseaseAn immune complication, most often of allogeneic haematopoietic stem cell transplantation, in which donor T…
- Haemophilia A and BAn X-linked bleeding disorder caused by deficiency of clotting factor VIII (haemophilia A) or factor IX…
- Heparin-induced thrombocytopeniaA prothrombotic, immune-mediated adverse drug reaction (type II HIT) in which antibodies against complexes…
- Hereditary haemorrhagic telangiectasia (Osler–Weber–Rendu)An autosomal dominant disorder of blood vessel development in which arteries connect directly to veins…
- Hereditary spherocytosisThe most common inherited red cell membrane disorder in people of European descent. Defects in proteins that…
- Hodgkin lymphomaA B-cell lymphoma defined by a small number of large malignant Reed-Sternberg cells within a background of…
- Hypercalcaemia of malignancyA high blood calcium caused by cancer. It is the most frequent life-threatening metabolic complication of…
- Hypereosinophilic syndromeA group of disorders defined by persistent marked blood eosinophilia (at least 1.5 × 10⁹/L on two occasions…
- Immune thrombocytopenia (ITP)An acquired autoimmune disorder with an isolated low platelet count (below 100,000/µL) caused by…
- Inherited platelet function disorders (Glanzmann thrombasthenia, Bernard–Soulier syndrome)Rare inherited defects of platelet receptors that impair primary haemostasis. Glanzmann thrombasthenia lacks…
- Inherited thrombophiliaA group of inherited conditions that increase the tendency to form venous blood clots, either by making…
- Langerhans cell histiocytosisA rare myeloid neoplasm in which clonal cells resembling Langerhans cells (CD1a and CD207/langerin positive)…
- Malignant spinal cord compressionCompression of the spinal cord or cauda equina by cancer, usually a metastasis in a vertebral body that…
- Mastocytosis (cutaneous and systemic)A group of disorders in which clonal mast cells accumulate in the skin (cutaneous mastocytosis) or in…
- Merkel cell carcinomaAn aggressive primary neuroendocrine carcinoma of the skin. It appears as a firm, painless, rapidly growing…
- MGUS and Waldenström macroglobulinaemiaMonoclonal gammopathy of undetermined significance (MGUS) is a premalignant state in which a small clone of…
- Mycosis fungoides and Sézary syndrome (cutaneous T-cell lymphoma)Mycosis fungoides (MF) is the most common primary cutaneous T-cell lymphoma: malignant skin-homing CD4+ T…
- Myelodysplastic syndromesA group of clonal disorders of the bone marrow stem cell in which blood cells are produced ineffectively and…
- Neutropenia and drug-induced agranulocytosisNeutropenia is an absolute neutrophil count (ANC) below the normal range, usually under 1500 cells/µL in…
- Non-Hodgkin lymphomaA diverse group of cancers of B, T or NK lymphocytes that form masses in lymph nodes or outside them…
- Pancreatic neuroendocrine tumours (VIPoma, glucagonoma, somatostatinoma, non-functioning)Neoplasms arising from the endocrine (islet) cells of the pancreas. Functioning tumours cause a syndrome…
- Paraneoplastic syndromesSigns and symptoms of cancer that are not explained by the tumour's local growth or metastases, but by…
- Paroxysmal nocturnal haemoglobinuriaAn acquired clonal disorder of blood stem cells in which a PIGA gene mutation leaves red cells, white cells…
- Polycythaemia veraA myeloproliferative neoplasm in which an acquired mutation in a blood stem cell drives excess production of…
- Primary central nervous system lymphomaAn aggressive extranodal non-Hodgkin lymphoma confined to the brain, spinal cord, leptomeninges and the…
- Pure red cell aplasia (incl. Diamond–Blackfan anaemia)A bone marrow failure limited to the red cell line: erythroid precursors are almost absent, reticulocytes…
- Sideroblastic anaemiaA group of inherited or acquired anaemias caused by a defect in haem synthesis inside the mitochondria of…
- Soft tissue sarcomas (liposarcoma, leiomyosarcoma, rhabdomyosarcoma)A group of more than 50 malignant tumours that arise from mesenchymal tissue such as fat (liposarcoma)…
- Superior vena cava syndromeNarrowing or blockage of the superior vena cava (SVC), the thin-walled vein that drains the head, neck and…
- Thrombotic thrombocytopenic purpuraA thrombotic microangiopathy caused by severe deficiency of ADAMTS13, the enzyme that cuts von Willebrand…
- Transfusion reactionsAdverse events that occur during or after the transfusion of blood components. They range from mild febrile…
- Von Willebrand diseaseAn inherited (rarely acquired) bleeding disorder caused by a quantitative or qualitative defect of von…
Infectious and tropical diseases
- ActinomycosisA chronic infection by Actinomyces bacteria that normally live in the mouth, gut and female genital tract…
- AnthraxA zoonotic infection by the spore-forming, Gram-positive rod Bacillus anthracis. Depending on how spores…
- AspergillosisDisease caused by inhaling spores of Aspergillus, a mould found everywhere in soil, compost and dust…
- BabesiosisInfection of red blood cells by Babesia protozoa, usually spread by ticks and less often by blood…
- Bacterial infectious diarrhoea and dysenteryAcute diarrhoea caused by bacteria or their toxins. Dysentery is the inflammatory form, with blood and mucus…
- Bartonella infections (cat-scratch disease, Carrion disease)Infections by Bartonella species, small gram-negative intracellular bacilli that infect red blood cells and…
- BotulismA neuroparalytic illness caused by botulinum toxin from Clostridium botulinum and related clostridia. The…
- Brain abscessA focal collection of pus within the brain tissue, surrounded by a capsule, caused mostly by bacteria and…
- BrucellosisA zoonotic infection by Brucella species, small gram-negative coccobacilli that live inside macrophages…
- Candidiasis: oral, oesophageal and invasiveInfections caused by Candida yeasts when the normal balance with the host is disturbed. Mucosal disease…
- ChancroidA sexually transmitted infection by Haemophilus ducreyi that produces one or more painful, soft genital…
- CholeraAn acute secretory diarrhoeal disease caused by toxin-producing Vibrio cholerae serogroups O1 and O139. The…
- ChromoblastomycosisChronic infection of the skin and subcutaneous tissue by dark-pigmented (dematiaceous) fungi that live in…
- Common cold (acute viral rhinopharyngitis)A self-limited viral infection of the upper airway, mainly the nasal mucosa and pharynx, causing runny or…
- COVID-19An infectious disease caused by the coronavirus SARS-CoV-2, ranging from no symptoms or a mild cold-like…
- Cryptococcal meningitisSubacute meningoencephalitis caused by encapsulated yeasts of the genus Cryptococcus, mainly C. neoformans…
- Cryptosporidiosis and other intestinal coccidia (Cyclospora, Cystoisospora)Infection of the small-bowel lining by spore-forming protozoa called coccidia: Cryptosporidium (the most…
- Cytomegalovirus infectionInfection by cytomegalovirus (human herpesvirus 5), which stays latent for life after primary infection. It…
- DiphtheriaAn acute infection by toxin-producing Corynebacterium diphtheriae, usually of the tonsils, pharynx, larynx…
- Echinococcosis (hydatid disease)A zoonotic infection by the larval stage of Echinococcus tapeworms. Cystic echinococcosis (hydatid disease…
- Endemic mycoses: blastomycosis and coccidioidomycosisInfections by dimorphic fungi that live in soil of specific geographic areas and are inhaled as spores…
- Free-living amoeba infections (Naegleria meningoencephalitis, Acanthamoeba)Infections by amoebas that normally live in water and soil. Naegleria fowleri causes primary amoebic…
- Genital herpes (herpes simplex infection)Infection with herpes simplex virus type 1 or type 2, which causes painful clusters of blisters and ulcers…
- GiardiasisAn infection of the small intestine by the flagellated protozoan Giardia duodenalis (also called G. lamblia…
- Granuloma inguinale (donovanosis)A chronic, progressive sexually transmitted infection by Klebsiella granulomatis that produces painless…
- Hantavirus pulmonary syndromeA severe zoonotic infection by New World hantaviruses, acquired mainly by inhaling dust contaminated with…
- Healthcare-associated infections (CLABSI, CAUTI, VAP)Infections that were not present or incubating on admission and appear during or after healthcare, usually…
- HistoplasmosisInfection by the dimorphic fungus Histoplasma capsulatum, acquired by inhaling spores from soil rich in bird…
- Human African trypanosomiasis (sleeping sickness)Infection by Trypanosoma brucei, transmitted by the tsetse fly in sub-Saharan Africa. It has a first…
- Infectious mononucleosisA clinical syndrome of fever, pharyngitis and lymphadenopathy with atypical lymphocytes, usually caused by…
- Influenza (flu)An acute respiratory infection caused by influenza A and B viruses, with sudden fever, myalgia and cough. It…
- Intestinal amoebiasis (amoebic dysentery)Infection of the large intestine by the protozoan Entamoeba histolytica, ranging from silent carriage to…
- Intestinal tapeworm infections (taeniasis, hymenolepiasis, diphyllobothriasis)Infection of the small bowel by adult cestodes (tapeworms). The main ones are Taenia saginata (beef…
- Legionnaires disease and Pontiac feverInfection by Legionella bacteria, mainly L. pneumophila, acquired by inhaling contaminated water aerosols…
- Leprosy (Hansen disease)A chronic infection by Mycobacterium leprae (and M. lepromatosis) that targets the skin and peripheral…
- ListeriosisInfection by Listeria monocytogenes, a gram-positive intracellular bacillus acquired from contaminated food…
- Liver fluke infections (fascioliasis, clonorchiasis, opisthorchiasis)Foodborne trematode infections in which adult flukes live in the bile ducts. Fasciola hepatica, acquired…
- Lyme diseaseAn infection by Borrelia burgdorferi sensu lato, transmitted by Ixodes ticks, that starts as a skin rash and…
- Lymphatic filariasisA neglected tropical disease caused by thread-like filarial worms, mainly Wuchereria bancrofti, that live in…
- MelioidosisAn infection by Burkholderia pseudomallei, a Gram-negative bacillus living in soil and surface water in the…
- Meningococcal disease (meningococcemia)Invasive infection by Neisseria meningitidis presenting as meningitis, bloodstream infection…
- MpoxInfection by the monkeypox virus, an orthopoxvirus related to smallpox, that causes a febrile illness with…
- MRSA and other multidrug-resistant organism infectionsInfections caused by bacteria that resist several antibiotic classes, mainly methicillin-resistant…
- Mycetoma (actinomycetoma and eumycetoma)A chronic, progressive granulomatous infection of the skin, subcutaneous tissue and later muscle and bone…
- Necrotizing soft tissue infection (necrotizing fasciitis, gas gangrene)A rapidly progressive bacterial infection that destroys the subcutaneous tissue and the fascia and may reach…
- NocardiosisAn infection by aerobic Nocardia species that live in soil and decaying plants. It usually starts in the…
- Nontuberculous mycobacterial infections (MAC, M. abscessus, Buruli ulcer)Infections by environmental mycobacteria other than the tuberculosis and leprosy bacilli. They cause slowly…
- Onchocerciasis (river blindness)A filarial infection by Onchocerca volvulus transmitted by blackflies that breed in fast-flowing rivers…
- Oropouche fever and other emerging arbovirusesAn acute febrile illness caused by Oropouche virus (an orthobunyavirus) transmitted mainly by biting midges…
- ParacoccidioidomycosisA systemic endemic mycosis caused by fungi of the genus Paracoccidioides, acquired by inhaling spores from…
- PlagueA zoonotic infection by Yersinia pestis that circulates among wild rodents and their fleas. It appears in…
- Pneumocystis pneumonia (PCP)An opportunistic pneumonia caused by the fungus Pneumocystis jirovecii in people with impaired cell-mediated…
- Poliomyelitis and acute flaccid paralysisAn enterovirus infection (poliovirus) that is usually silent but in a small minority invades the motor…
- PsittacosisSystemic infection by Chlamydia psittaci, acquired by breathing dust from droppings, feathers or secretions…
- Pyomyositis (including psoas abscess)A primary bacterial infection of skeletal muscle that progresses to an intramuscular abscess, usually caused…
- Q feverInfection by Coxiella burnetii, a small intracellular bacterium carried by farm animals. Most infections are…
- RabiesAn acute, progressive viral encephalomyelitis caused by lyssaviruses, mainly rabies virus, transmitted in…
- Relapsing fever (tick-borne and louse-borne borreliosis)An infection by Borrelia spirochaetes that causes repeated episodes of high fever separated by afebrile…
- Rickettsial infections (spotted fever)Febrile illnesses caused by intracellular bacteria of the genus Rickettsia (and related genera) that infect…
- SchistosomiasisA chronic parasitic disease caused by Schistosoma blood flukes, whose larvae penetrate the skin in fresh…
- Soil-transmitted helminthiasis (ascariasis, hookworm, trichuriasis)Intestinal infections by worms whose eggs or larvae mature in contaminated soil: the roundworm Ascaris…
- Sporotrichosis and other subcutaneous mycosesSubcutaneous mycoses are fungal infections implanted into the skin and subcutaneous tissue by minor trauma…
- StrongyloidiasisInfection by the nematode Strongyloides stercoralis, whose larvae penetrate the skin from contaminated soil…
- TetanusAn acute, often fatal disease caused by tetanospasmin, a neurotoxin made by Clostridium tetani after its…
- Toxic shock syndromeAn acute, life-threatening illness caused by superantigen toxins of Staphylococcus aureus or Streptococcus…
- Toxocariasis (visceral and ocular larva migrans)A zoonotic infection by larvae of the dog roundworm Toxocara canis or cat roundworm Toxocara cati. Humans…
- ToxoplasmosisInfection by the protozoan Toxoplasma gondii. It is mostly asymptomatic or a mild glandular-fever-like…
- TrichinellosisInfection by nematodes of the genus Trichinella, usually T. spiralis, acquired by eating meat that contains…
- TularaemiaA zoonotic infection by Francisella tularensis. Its clinical form depends on how the bacteria enter: through…
- Typhoid (enteric) feverA systemic infection by Salmonella enterica serotype Typhi (or Paratyphi in paratyphoid fever) that enters…
- Viral (aseptic) meningitisInflammation of the leptomeninges (arachnoid and pia mater) caused by a virus, with fever, headache and neck…
- Viral encephalitis (herpes simplex encephalitis)Inflammation of the brain parenchyma caused by a virus, producing fever with altered mental status…
- Viral haemorrhagic fevers (Ebola and others)A group of severe systemic illnesses caused by RNA viruses from several families (filoviruses such as Ebola…
- Yaws and endemic treponematosesChronic infections by Treponema pallidum subspecies closely related to syphilis but spread by skin or mouth…
- Yellow feverAn acute viral haemorrhagic fever caused by the yellow fever virus (a flavivirus) and spread by mosquitoes…
Knee
- ACL TearPartial or complete tear of the anterior cruciate ligament, usually from a sudden stop, pivot or awkward…
- Baker's (Popliteal) CystFluid-filled swelling in the popliteal fossa, usually communicating with the knee joint.
- Gout of the KneeCrystal arthropathy from monosodium urate crystals. The first attack is usually the big toe (podagra); the…
- Iliotibial Band SyndromeOveruse irritation where the iliotibial band rubs over the lateral femoral epicondyle, common in runners.
- Knee OsteoarthritisGradual wear of the articular cartilage of the knee joint.
- MCL Sprain or TearInjury to the medial collateral ligament from a blow to the outer side of the knee or a twisting fall.
- Meniscus TearTear of the C-shaped cartilage cushion between the femur and tibia.
- Osgood–Schlatter DiseaseTraction apophysitis of the tibial tubercle in growing adolescents from repeated pull of the patellar tendon.
- Patellar DislocationThe kneecap moves out of its groove, usually laterally, after a twisting injury or direct blow.
- Patellar fractureA break of the kneecap (patella). Displaced fractures can disrupt the extensor mechanism and leave the…
- Patellar TendinopathyOveruse injury of the patellar tendon, common in jumping sports.
- Patellofemoral Pain SyndromePain around or behind the kneecap that worsens with squatting, stairs, or prolonged sitting.
- PCL InjuryTear of the posterior cruciate ligament, most often from a dashboard injury or fall onto a flexed knee.
- Popliteal Artery InjuryInjury to the artery behind the knee, usually from high-energy trauma or knee dislocation. Limb-threatening…
- Prepatellar BursitisInflammation of the bursa in front of the kneecap, often from repetitive kneeling.
- Pseudogout (CPPD) of the KneeCalcium pyrophosphate crystal deposition disease. The knee is its most common joint.
- Septic Arthritis of the KneeInfection inside the knee joint, most often bacterial. Medical emergency.
- Tibial Plateau FractureBreak of the proximal tibia that involves the articular surface.
Lower limb
- Acetabular Labral TearTear of the cartilage rim that deepens the hip socket, often from trauma or femoroacetabular impingement.
- Achilles TendinopathyOveruse condition of the Achilles tendon causing pain and thickening, usually in the midportion or at the…
- Achilles tendon ruptureA partial or complete tear of the Achilles tendon, the common tendon of the gastrocnemius and soleus that…
- Acute compartment syndromeA surgical emergency in which pressure rises inside a closed muscle compartment until blood flow to its…
- Acute limb ischaemiaA sudden fall in blood flow to a limb that threatens its survival, usually from an embolus or a thrombus in…
- Ankle fractureA break of one or more of the malleoli (the lower ends of the tibia and fibula), often with ligament injury…
- Avascular necrosis of the femoral headDeath of bone in the femoral head caused by loss of its blood supply, which can lead to collapse of the head…
- Cellulitis of the legAcute bacterial infection of the deep dermis and subcutaneous tissue of the leg, with spreading redness…
- Chronic venous insufficiencyLong-standing high pressure in the leg veins (venous hypertension) from faulty valves or blocked veins…
- Clubfoot (talipes equinovarus)A congenital deformity in which the foot points down and turns inward, with a high arch, forefoot adduction…
- Common Fibular (Peroneal) Nerve InjuryInjury to the common fibular nerve as it wraps around the fibular neck, causing foot drop.
- Deep vein thrombosisA blood clot (thrombus) in a deep vein, most often of the leg or pelvis. Together with pulmonary embolism it…
- Developmental dysplasia of the hipAbnormal development of the infant hip in which the acetabulum is shallow and the femoral head is unstable…
- Diabetic footFoot problems caused by diabetes: ulcers, infection and tissue loss that arise from the combination of nerve…
- Femoral Neck FractureBreak in the neck of the femur, common in older adults after a fall, and in younger people after high-energy…
- Femoral shaft fractureA fracture of the diaphysis of the femur, between the region below the lesser trochanter and the area just…
- Flatfoot (pes planus)Loss or lowering of the medial longitudinal arch of the foot, often with heel valgus and forefoot abduction…
- Greater Trochanteric Pain SyndromePain over the outer hip, often from gluteal tendinopathy or bursitis rather than pure bursitis alone.
- Hallux valgus (bunion)A forefoot deformity in which the big toe drifts toward the second toe and the first metatarsal drifts…
- Hamstring StrainTear or overstretch of one or more of the hamstring muscles, common in sprinting and sudden acceleration.
- Hip dislocationDisplacement of the femoral head out of the acetabulum. In a native hip it needs high-energy trauma, and…
- Hip OsteoarthritisGradual wear of the cartilage in the hip joint, leading to pain and reduced motion.
- Intertrochanteric hip fractureA hip fracture through the femur between the greater and lesser trochanters, outside the joint capsule…
- Lateral Ankle SprainInjury to the ligaments on the outer side of the ankle, usually from an inversion force.
- Legg-Calvé-Perthes diseaseIdiopathic avascular necrosis of the femoral head in a growing child, followed by fragmentation and slow…
- LymphoedemaChronic swelling of a limb caused by build-up of protein-rich fluid in the tissues because the lymphatic…
- Medial tibial stress syndrome (shin splints)Exercise-related pain along the inner (posteromedial) border of the lower two-thirds of the tibia, known as…
- Meralgia parestheticaBurning pain, tingling and numbness of the outer front thigh caused by compression of the lateral femoral…
- Metatarsal fractures (including stress fractures)A break in one of the five metatarsal bones of the forefoot, either acute from injury or a stress fracture…
- Morton neuromaA painful thickening of a common plantar digital nerve, most often in the third web space between the third…
- OsteomyelitisInfection of bone, which may be acute or chronic, and spreads through the blood, from nearby tissue (such as…
- Peripheral artery diseaseNarrowing or blockage of the arteries of the legs, usually from atherosclerosis, which reduces blood flow to…
- Piriformis syndromeButtock pain, often spreading down the back of the thigh, attributed to irritation or compression of the…
- Plantar FasciitisOverload of the plantar fascia causing heel pain, especially with the first steps in the morning.
- Sciatica (Lumbar Radiculopathy)Pain, numbness or weakness radiating down the leg from compression or irritation of a lumbar nerve root…
- Slipped capital femoral epiphysisA hip disorder of adolescence in which the femoral head (the capital epiphysis) slips off the femoral neck…
- Tarsal tunnel syndromeCompression of the tibial nerve or its plantar branches in the tarsal tunnel, the space behind the medial…
- Tibial shaft fractureA fracture of the middle part (diaphysis) of the tibia, often with a fibular fracture. It is the most common…
- Varicose veinsDilated, twisted superficial leg veins, usually of the great or small saphenous system, caused by failure of…
- Venous leg ulcerA chronic wound of the lower leg caused by venous hypertension, typically in the gaiter area above the…
Metabolism (biochemistry)
- Acetaminophen toxicityLiver injury, sometimes kidney injury, from too much acetaminophen (paracetamol), in one ingestion or…
- Alcoholic liver disease (biochemistry)A spectrum of liver injury from prolonged heavy drinking, from reversible fatty liver to alcoholic hepatitis…
- Cadmium poisoningPoisoning by cadmium, a heavy metal with no biological role that accumulates over decades, mainly in the…
- Disulfiram–ethanol reactionA toxic reaction that appears when alcohol is drunk while aldehyde dehydrogenase is inhibited by disulfiram…
- Ethylene glycol poisoningPoisoning by ethylene glycol, the sweet-tasting alcohol in antifreeze and brake fluids, which the liver…
- Mercury poisoningPoisoning by elemental mercury (vapour), inorganic salts or organic compounds such as methylmercury, which…
- Methanol poisoningPoisoning by methyl alcohol, usually swallowed in adulterated drinks, which the liver turns into…
Metabolism (biochemistry)
- AmyloidosisA group of diseases in which a misfolded plasma protein is laid down outside cells as cross-β-sheet fibrils…
- Ehlers–Danlos syndromeA set of 13 inherited connective-tissue disorders (2017 classification) caused by faults in the synthesis…
- Multiple myelomaA neoplasm of a plasma-cell clone in the bone marrow that makes a monoclonal immunoglobulin or light chain…
- Osteogenesis imperfectaA group of inherited connective-tissue disorders, nearly always from COL1A1 or COL1A2 variants, with bone…
- Prion diseases (Creutzfeldt–Jakob)Transmissible spongiform encephalopathies caused by build-up of PrPSc, the misfolded form of the prion…
- α1-antitrypsin deficiencyA codominant genetic disorder from SERPINA1 variants (mainly the Z allele) that lower blood α1-antitrypsin…
Metabolism (biochemistry)
- Arsenic poisoningAcute or chronic poisoning by arsenic compounds. The most common chronic exposure is contaminated well…
- Diabetic ketoacidosisAn acute complication of insulin lack with excess counter-regulatory hormones: high glucose, high ketone…
- Fluoroacetate poisoningPoisoning by sodium fluoroacetate (compound 1080) or fluoroacetamide, pesticides banned or restricted in…
- Fumarase deficiencyLack of fumarate hydratase (FH gene) from variants in both copies of the gene: fumarate does not become…
- Hereditary paraganglioma and pheochromocytoma (SDH)Tumours of the paraganglia (carotid body, vagus nerve, sympathetic chain) and the adrenal medulla caused by…
- Lactic acidosisHigh anion gap metabolic acidosis from lactate buildup, usually 4–5 mmol/L or more with a low pH.
- Pyruvate dehydrogenase deficiencyLow activity of the pyruvate dehydrogenase complex, usually from PDHA1 variants on the X chromosome…
- Pyruvate kinase deficiencyChronic hemolytic anemia due to low activity of red-cell pyruvate kinase (PKLR gene). It is the glycolysis…
- Tarui disease (muscle phosphofructokinase deficiency)Glycogen storage disease type VII: muscle phosphofructokinase is missing (PFKM gene). Muscle cannot use…
- Wernicke encephalopathy (thiamine deficiency)Acute brain injury from thiamine deficiency, the coenzyme of PDH, α-ketoglutarate dehydrogenase and…
Metabolism (biochemistry)
- Ataxia-telangiectasiaAn autosomal recessive disorder caused by variants in ATM, the kinase that senses DNA double-strand breaks…
- Bloom syndromeAn autosomal recessive disorder caused by variants in BLM, which encodes a RecQ helicase needed to keep DNA…
- Duchenne muscular dystrophyAn X-linked myopathy caused by DMD variants that abolish dystrophin, nearly always frameshifting deletions…
- Fanconi anaemiaAn inherited bone marrow failure syndrome caused by variants in one of more than 20 FANC genes, which make…
- Fragile X syndromeAn X-linked disorder caused by an expansion of more than 200 CGG repeats in the 5' region of FMR1, which…
- Hereditary breast and ovarian cancer syndrome (BRCA1/BRCA2)An autosomal dominant cancer predisposition caused by germline variants in BRCA1 or BRCA2, genes of…
- Huntington diseaseAn autosomal dominant neurodegenerative disease caused by expansion of the HTT CAG repeat (36 or more)…
- Lynch syndrome (hereditary non-polyposis colorectal cancer)An autosomal dominant syndrome caused by a germline variant in a mismatch repair gene (MLH1, MSH2, MSH6…
- Xeroderma pigmentosumAn autosomal recessive defect of nucleotide excision repair (genes XPA to XPG, POLH) that leaves UV-induced…
Metabolism (biochemistry)
- Congenital adrenal hyperplasia due to 11β-hydroxylase deficiencyAn autosomal recessive disorder from CYP11B1 variants: the last step of cortisol fails and precursors with…
- Congenital adrenal hyperplasia due to 17α-hydroxylase deficiencyAn autosomal recessive disorder from CYP17A1 variants that blocks cortisol, androgen and oestrogen synthesis…
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiencyAn autosomal recessive disorder from CYP21A2 variants that lowers cortisol (and often aldosterone) and…
- KwashiorkorSevere acute malnutrition with bilateral pitting oedema, typical of young children after weaning, in…
- MarasmusSevere acute malnutrition without oedema from a long total energy deficit, with marked loss of fat and muscle.
Metabolism (biochemistry)
- Congenital disorder of glycosylation type Ia (PMM2-CDG)An inherited defect of phosphomannomutase 2 (gene PMM2) that impairs N-linked glycosylation of proteins; it…
- Familial combined hyperlipidaemiaA common inherited disorder in which the liver overproduces apoB-containing lipoproteins (VLDL and LDL)…
- Familial hypertriglyceridaemiaA common inherited disorder with raised VLDL triglycerides (Fredrickson type IV) and often low HDL; it can…
- Glycine encephalopathy (nonketotic hyperglycinaemia)An inherited defect of the mitochondrial glycine cleavage system that causes glycine to accumulate in the…
- Guanidinoacetate methyltransferase (GAMT) deficiencyAn inherited creatine deficiency syndrome caused by lack of guanidinoacetate methyltransferase (gene GAMT)…
- Myoadenylate deaminase deficiency (AMP deaminase deficiency)An inherited deficiency of AMP deaminase 1 (gene AMPD1), the muscle enzyme of the purine nucleotide cycle.
- Primary hyperoxaluriaA group of inherited disorders of glyoxylate metabolism in the liver that cause oxalate overproduction…
- Pyruvate carboxylase deficiencyAn inherited mitochondrial disorder in which pyruvate carboxylase (gene PC), the biotin enzyme that turns…
Metabolism (biochemistry)
- Fabry diseaseAn X-linked sphingolipidosis caused by α-galactosidase A deficiency (GLA gene); globotriaosylceramide (Gb3)…
- Gaucher diseaseAn autosomal recessive sphingolipidosis caused by glucocerebrosidase deficiency (GBA1 gene). It is the most…
- Hunter syndrome (mucopolysaccharidosis type II)An X-linked mucopolysaccharidosis caused by iduronate 2-sulfatase deficiency (IDS gene); dermatan sulfate…
- Hurler syndrome (mucopolysaccharidosis type I)An autosomal recessive mucopolysaccharidosis caused by α-L-iduronidase deficiency (IDUA gene); dermatan…
- I-cell disease (mucolipidosis II)An autosomal recessive mucolipidosis caused by GlcNAc-1-phosphotransferase deficiency (GNPTAB gene)…
- Krabbe disease (globoid cell leukodystrophy)An autosomal recessive lysosomal leukodystrophy caused by galactocerebrosidase deficiency (GALC gene), with…
- Metachromatic leukodystrophyAn autosomal recessive lysosomal leukodystrophy caused by deficiency of arylsulfatase A (ARSA gene) or…
- Niemann–Pick diseaseA group of autosomal recessive lysosomal diseases: types A and B from acid sphingomyelinase deficiency…
- Tay–Sachs diseaseAn autosomal recessive GM2 gangliosidosis caused by deficiency of the α subunit of hexosaminidase A (HEXA…
Metabolism (biochemistry)
- Farber disease (Farber lipogranulomatosis)An autosomal recessive lysosomal storage disease caused by acid ceramidase deficiency (ASAH1 gene), with…
- GM1 gangliosidosisAn autosomal recessive lysosomal storage disease caused by acid β-galactosidase deficiency (GLB1 gene), with…
Metabolism (biochemistry)
- GM2 activator deficiency (GM2 gangliosidosis, AB variant)An autosomal recessive lysosomal disease caused by GM2A variants; without the GM2 activator protein…
- Morquio syndrome (mucopolysaccharidosis type IV)An autosomal recessive lysosomal disease in which keratan sulfate (and, in type A, chondroitin 6-sulfate)…
- Sandhoff diseaseAn autosomal recessive lysosomal storage disease caused by HEXB variants that remove the shared β subunit of…
- Sanfilippo syndrome (mucopolysaccharidosis type III)A group of four autosomal recessive lysosomal diseases (MPS IIIA–D), each missing one enzyme of heparan…
Metabolism (biochemistry)
- High anion gap metabolic acidosisA metabolic acidosis in which an acid with an unmeasured anion is added to plasma, uses up bicarbonate and…
- HypercalcaemiaA high serum calcium (corrected or ionised) from excess bone resorption, gut absorption or renal reabsorption.
- HyperkalaemiaA high serum potassium from reduced renal excretion, potassium leaving cells or excess intake; the cause of…
- HypernatraemiaA high serum sodium that nearly always reflects a deficit of free water relative to sodium, with…
- HypocalcaemiaA low ionised calcium, from lack of PTH, lack of or resistance to vitamin D, or calcium being deposited or…
- HypokalaemiaA low serum potassium from renal or gut losses, a shift of potassium into cells or, rarely, poor intake.
- HyponatraemiaA low serum sodium, nearly always from a relative excess of water retained under antidiuretic hormone (ADH)…
- Metabolic alkalosisA primary rise in plasma bicarbonate with high pH, sustained because the kidney reabsorbs it when volume…
- Normal anion gap (hyperchloraemic) metabolic acidosisA metabolic acidosis from bicarbonate loss or failure of the kidney to excrete acid, with high chloride and…
- Refeeding syndromeSevere fluid and electrolyte disturbances (above all hypophosphataemia) and thiamine deficiency that appear…
- Respiratory acidosisA primary rise in pCO₂ (hypercapnia) from alveolar hypoventilation, with a fall in pH; it may be acute or…
- Respiratory alkalosisA primary fall in pCO₂ (hypocapnia) from hyperventilation, with a rise in pH; acute or chronic and…
- Syndrome of inappropriate antidiuretic hormone secretion (SIADH)ADH release or action not suppressed by low osmolality, causing euvolaemic hypotonic hyponatraemia with…
Metabolism: amino acids and the urea cycle
- AlkaptonuriaAn inherited disease from lack of homogentisate 1,2-dioxygenase. Homogentisic acid builds up, appears in…
- Carcinoid syndromeA set of symptoms from substances (mainly serotonin) released by a well-differentiated neuroendocrine…
- CystinuriaAn inherited disorder of amino acid transport in the renal proximal tubule and the gut. Cystine, ornithine…
- Hartnup diseaseAn inherited disorder of the neutral amino acid transporter B⁰AT1 in the gut and renal tubule. Neutral amino…
- HomocystinuriaA group of inherited diseases with very high homocysteine in blood and urine. The classic form is due to…
- HyperammonaemiaA rise in plasma ammonia from more production or less removal. It is a feature shared by many diseases.
- Maple syrup urine diseaseAn inherited organic acidaemia from lack of the branched-chain α-keto acid dehydrogenase complex (BCKDH).
- Methylmalonic acidaemiaAn inherited organic acidaemia from lack of methylmalonyl-CoA mutase or of the synthesis of its cofactor…
- Oculocutaneous albinismInherited failure of melanin production in melanocytes. Type 1 is due to lack of tyrosinase, the enzyme that…
- Ornithine transcarbamylase (OTC) deficiencyAn X-linked inherited disease from lack of ornithine transcarbamylase, the second enzyme of the urea cycle.
- Phenylketonuria (PKU)An inherited disease in which liver phenylalanine hydroxylase activity is missing. Phenylalanine rises in…
- Propionic acidaemiaAn inherited organic acidaemia from lack of propionyl-CoA carboxylase, a biotin-dependent enzyme.
- Tyrosinaemia type I (hepatorenal)An inherited disease from lack of fumarylacetoacetate hydrolase, the last enzyme of tyrosine breakdown.
Metabolism: carbohydrates and glycogen
- Andersen disease (glycogen storage disease type IV)Inherited glycogen storage disease caused by lack of the glycogen branching enzyme (GBE1 gene). A poorly…
- Classic galactosaemiaGalactosaemia type I: near-total lack of galactose-1-phosphate uridylyltransferase (GALT). It is a newborn…
- Cori disease (glycogen storage disease type III)Inherited glycogen storage disease caused by lack of the debranching enzyme (AGL gene). Glycogen with short…
- Essential fructosuriaLack of fructokinase (ketohexokinase, KHK gene). Dietary fructose stays in the blood and is cleared by the…
- Glucose-6-phosphate dehydrogenase (G6PD) deficiencyInherited X-linked enzyme defect in which the red cell has little G6PD and cannot make the NADPH that…
- Hereditary fructose intoleranceInborn error of metabolism caused by lack of aldolase B (ALDOB gene). Symptoms start when the baby receives…
- Hers disease (glycogen storage disease type VI)Liver glycogen storage disease caused by lack of liver glycogen phosphorylase (PYGL gene). It is usually mild.
- Lactose intoleranceDigestive symptoms from poor lactose digestion due to low lactase at the brush border of the small…
- McArdle disease (glycogen storage disease type V)Muscle glycogen storage disease caused by lack of myophosphorylase (PYGM gene). It is the commonest muscle…
- Pompe disease (glycogen storage disease type II)Lysosomal glycogen storage disease caused by lack of acid α-glucosidase (acid maltase, GAA gene). It is both…
- Von Gierke disease (glycogen storage disease type I)Inherited glycogen storage disease caused by lack of glucose-6-phosphatase (type Ia, G6PC1 gene) or its…
Metabolism: cholesterol and lipoproteins
- Abetalipoproteinemia (Bassen–Kornzweig syndrome)An autosomal recessive disorder caused by lack of microsomal triglyceride transfer protein (MTP), which…
- Familial chylomicronemia syndrome (lipoprotein lipase deficiency)An autosomal recessive disorder caused by absent lipoprotein lipase activity, or of the proteins that…
- Familial dysbetalipoproteinemia (type III hyperlipoproteinemia)A dyslipidaemia caused by ApoE that binds receptors poorly (almost always the ε2/ε2 genotype), with build-up…
- Familial hypercholesterolemiaA genetic disorder, almost always autosomal dominant, with very high LDL from birth due to defects in the…
- Smith–Lemli–Opitz syndromeAn autosomal recessive disorder caused by 7-dehydrocholesterol reductase (DHCR7) deficiency: the body makes…
- Tangier diseaseAn autosomal recessive disorder caused by loss of the ABCA1 transporter, which prevents loading cholesterol…
Metabolism: fatty acids and ketones
- Carnitine palmitoyltransferase II (CPT-II) deficiencyAn autosomal recessive defect of the CPT-II enzyme (CPT2 gene), the last step of the carnitine shuttle. The…
- Jamaican vomiting sickness (ackee poisoning)A toxic hypoglycaemic syndrome caused by hypoglycin A in the unripe aril of Blighia sapida (ackee, called…
- Medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyAn autosomal recessive defect of the MCAD enzyme (ACADM gene) that blocks β-oxidation of medium-chain fatty…
- Primary carnitine deficiencyAn autosomal recessive disorder of the OCTN2 carnitine transporter (SLC22A5 gene). Carnitine is lost in…
- Refsum disease (adult)An autosomal recessive defect of peroxisomal α-oxidation: phytanic acid is not broken down and builds up in…
- X-linked adrenoleukodystrophyAn X-linked peroxisomal disorder caused by variants in ABCD1, which encodes the ALDP transporter…
- Zellweger syndrome (Zellweger spectrum)A group of peroxisome biogenesis disorders caused by variants in PEX (peroxin) genes. Zellweger syndrome is…
Metabolism: heme, bilirubin and iron
- Acute intermittent porphyriaAcute hepatic porphyria caused by partial (about 50 %) deficiency of porphobilinogen deaminase (HMBS gene)…
- Crigler-Najjar syndromeSevere unconjugated hyperbilirubinemia from absent (type 1) or markedly reduced (type 2) liver UGT1A1.
- Dubin-Johnson syndromeChronic conjugated hyperbilirubinemia from failure of the canalicular transporter MRP2 (ABCC2 gene), with…
- Erythropoietic protoporphyriaA cutaneous porphyria due to low ferrochelatase activity (or, in the X-linked form, excess ALAS2) that piles…
- Gilbert syndromeMild, fluctuating unconjugated hyperbilirubinemia from reduced expression of liver UGT1A1, without hemolysis…
- Hereditary hemochromatosisPrimary iron overload from lack of hepcidin (or resistance to it), nearly always due to HFE C282Y…
- Lead poisoningAcute or chronic poisoning with inorganic lead, which inhibits sulfhydryl enzymes, including ALA dehydratase…
- MethemoglobinemiaA rise in methemoglobin (heme iron in the Fe³⁺ state) above normal (1–2 %), acquired from oxidants or…
- Neonatal jaundiceHyperbilirubinemia of the newborn, usually unconjugated; it may be physiological or pathological (hemolysis…
- Porphyria cutanea tardaChronic cutaneous porphyria caused by low uroporphyrinogen decarboxylase activity in the liver, which builds…
- Rotor syndromeMild conjugated and unconjugated hyperbilirubinemia from combined absence of the OATP1B1 and OATP1B3…
- Sickle cell diseaseA group of hemoglobinopathies with HbS (β6 Glu→Val): HbSS (sickle cell anemia), HbSC and HbS/β-thalassemia…
- Thalassemias (α and β)Quantitative hemoglobinopathies from reduced synthesis of α chains (HBA1/HBA2 genes, usually deletions) or β…
Metabolism: mitochondria and energy
- Carbon monoxide poisoningPoisoning by inhaled carbon monoxide (CO), a colourless, odourless gas from incomplete combustion, which…
- Cyanide poisoningAcute poisoning by cyanide (gas, salts or compounds that release it) that stops cellular respiration within…
- Leber hereditary optic neuropathy (LHON)Death of retinal ganglion cells and their axons in the optic nerve from a complex I defect, causing subacute…
- Leigh syndromeSubacute necrotising encephalopathy: symmetrical lesions of the basal ganglia and brainstem from failed…
- MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes)A multisystem mitochondrial disease, almost always due to a mitochondrial DNA variant, with stroke-like…
Metabolism: purines and pyrimidines
- Adenosine deaminase deficiency (ADA-SCID)Autosomal recessive adenosine deaminase deficiency causing severe combined immunodeficiency (no T, B or NK…
- Hereditary orotic aciduriaAutosomal recessive UMP synthase deficiency that blocks pyrimidine synthesis: orotic acid builds up and a…
- Hereditary xanthinuriaAutosomal recessive deficiency of xanthine oxidoreductase (type I) or of it together with aldehyde oxidase…
- Lesch-Nyhan syndromeComplete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT1 gene, X-linked) that causes…
- Tumour lysis syndromeA set of metabolic disturbances (hyperuricaemia, hyperkalaemia, hyperphosphataemia and hypocalcaemia) from…
Nephrology and urology
- Acute interstitial nephritisInflammation and swelling of the renal interstitium and tubules, most often an allergic (hypersensitivity)…
- Acute urinary retentionThe sudden inability to empty the bladder voluntarily, usually painful, with a bladder that can be felt…
- Alport syndromeAn inherited disorder of type IV collagen in basement membranes that causes progressive glomerular disease…
- Asymptomatic bacteriuriaThe presence of a significant number of bacteria in a properly collected urine sample from a person with no…
- Atheroembolic renal disease (cholesterol crystal embolism)A form of systemic atheroembolism in which cholesterol crystals released from ulcerated atherosclerotic…
- Bartter, Gitelman and Liddle syndromesA group of inherited tubular channelopathies that cause hypokalaemic metabolic alkalosis. Bartter syndrome…
- Calciphylaxis (calcific uremic arteriolopathy)A rare and often fatal disorder in which calcium deposits in the wall of small arteries and arterioles of…
- Catheter-associated urinary tract infectionA symptomatic urinary tract infection in a person who has an indwelling urinary catheter or had one removed…
- CKD-mineral and bone disorder (renal osteodystrophy)A systemic disorder of chronic kidney disease made up of abnormal calcium, phosphate, parathyroid hormone…
- Congenital kidney anomalies (horseshoe kidney, renal agenesis)A group of birth defects of the kidneys and urinary tract (often called CAKUT) that includes missing kidneys…
- Dehydration (fluid volume deficit)A deficit of body water, usually with loss of sodium and other electrolytes, that reduces the volume of…
- Diabetic kidney diseaseChronic kidney disease caused by diabetes, recognised by persistent albuminuria, a falling glomerular…
- Fanconi syndromeA generalised dysfunction of the proximal convoluted tubule causing urinary loss of substances it normally…
- Fluid volume overload (hypervolaemia)An excess of isotonic fluid (sodium and water together) in the extracellular space, both in the blood…
- Focal segmental glomerulosclerosisA pattern of podocyte injury in which some glomeruli (focal) show scarring in part of the tuft (segmental)…
- Hydronephrosis and obstructive uropathyHydronephrosis is dilation of the renal pelvis and calyces; when the ureter is also dilated it is called…
- Hypertensive nephrosclerosisKidney damage caused by chronic hypertension, with thickening and hyalinisation of the small renal arteries…
- HypomagnesaemiaA serum magnesium below the normal range, usually under about 1.7–1.8 mg/dL (0.7 mmol/L). It is common in…
- HypophosphataemiaA serum phosphate below the normal range (about 2.5 mg/dL in adults). Mild cases are common and silent…
- IgA nephropathyA chronic immune glomerulonephritis defined by deposits of immunoglobulin A in the mesangium of the…
- Interstitial cystitis (bladder pain syndrome)A chronic pain condition of the bladder lasting more than six weeks, with pelvic pain, pressure or…
- Kidney transplant rejectionImmune-mediated injury of a transplanted kidney by the recipient's T cells and/or antibodies directed…
- Lupus nephritisKidney involvement in systemic lupus erythematosus, mainly an immune-complex glomerulonephritis. It ranges…
- Male infertilityFailure of a couple to achieve pregnancy after 12 months or more of regular unprotected intercourse when the…
- Medullary sponge kidney and medullary cystic diseaseMedullary sponge kidney (Cacchi–Ricci disease) is a developmental disorder in which the collecting ducts of…
- Membranoproliferative glomerulonephritisA pattern of glomerular injury seen on biopsy in which the capillary walls thicken and the mesangium…
- Membranous nephropathyAn immune-mediated glomerular disease in which antibodies bind to antigens on the podocyte and form…
- Minimal change diseaseA podocyte disease that causes nephrotic syndrome with glomeruli that look normal under the light…
- Nephrotic syndromeA clinical syndrome caused by damage to the glomerular filtration barrier, defined by heavy proteinuria…
- Neurogenic bladderBladder and sphincter dysfunction caused by disease of the nervous system controlling urination. Depending…
- Overactive bladder and urge incontinenceA symptom syndrome of urinary urgency, usually with frequency and night-time urination (nocturia), with or…
- Post-streptococcal glomerulonephritisAn immune-complex glomerulonephritis that appears days to weeks after an infection with nephritogenic…
- Rapidly progressive glomerulonephritis (anti-GBM, ANCA)A clinical syndrome of glomerulonephritis with a loss of kidney function over days to weeks, usually with…
- Renal cell carcinomaA malignant tumour arising from the epithelium of the renal tubules, most often the proximal tubule. It is…
- Renal papillary necrosisIschaemic necrosis of the renal papillae, the innermost tips of the medullary pyramids that drain into the…
- Renal tubular acidosisA group of disorders in which the renal tubules cannot excrete acid or reabsorb bicarbonate properly…
- Renal vein thrombosisThrombosis of one or both renal veins, which may extend into the inferior vena cava. It can be acute, with…
- Renovascular hypertension (renal artery stenosis)Narrowing of one or both renal arteries that reduces blood flow to the kidney. It is a potentially curable…
- RhabdomyolysisA syndrome in which injured skeletal muscle releases its contents (myoglobin, potassium, phosphate, creatine…
- Vesicoureteral refluxRetrograde flow of urine from the bladder into one or both ureters and sometimes the kidneys, usually…
Neurology
- Amyotrophic lateral sclerosisA progressive neurodegenerative disease that destroys both upper motor neurons (motor cortex and…
- Autoimmune encephalitis (including anti-NMDA receptor encephalitis)A group of brain inflammations caused by antibodies or T cells directed against neuronal proteins, rather…
- Autonomic dysreflexiaA medical emergency in people with spinal cord injury, usually at or above T6, in which a harmful stimulus…
- Brain arteriovenous malformationA congenital vascular lesion in which arteries connect directly to veins through a tangle of abnormal…
- Brain metastasesSecondary tumours in the brain from a cancer that started elsewhere, usually spread through the blood. They…
- Brainstem stroke syndromes (Wallenberg and others)A group of stroke syndromes caused by occlusion of small branches of the vertebral and basilar arteries…
- Cerebral venous sinus thrombosisThrombosis of the dural venous sinuses and/or cerebral veins, which blocks venous drainage of the brain and…
- Charcot-Marie-Tooth diseaseA group of inherited peripheral neuropathies (hereditary motor and sensory neuropathies) that damage the…
- Childhood brain tumours (medulloblastoma, pilocytic astrocytoma, craniopharyngioma)Primary tumours of the central nervous system in children. Unlike adults, most are infratentorial (posterior…
- Chronic inflammatory demyelinating polyneuropathy (CIDP)An acquired, immune-mediated disease in which the myelin sheath of nerve roots and peripheral nerves is…
- Cluster headacheA primary headache disorder with short attacks of very severe, strictly one-sided pain around the eye or…
- Coma and brain deathComa is a state of unresponsiveness in which the person cannot be aroused, caused by damage to both cerebral…
- Critical illness polyneuropathy and myopathy (ICU-acquired weakness)ICU-acquired weakness is generalised, symmetric, flaccid weakness that appears during critical illness with…
- Dementia with Lewy bodiesA progressive degenerative dementia caused by abnormal alpha-synuclein deposits (Lewy bodies) in the cortex…
- Dystonia (generalised and focal)A movement disorder with sustained or intermittent involuntary muscle contractions that cause abnormal…
- Essential tremorA chronic, often inherited movement disorder causing a bilateral postural and kinetic (action) tremor…
- Facioscapulohumeral muscular dystrophy (FSHD)A common adult muscular dystrophy caused by inappropriate expression of the DUX4 gene in skeletal muscle…
- Friedreich ataxiaThe most common inherited ataxia, an autosomal recessive neurodegenerative disease caused by GAA repeat…
- Frontotemporal dementiaA group of neurodegenerative disorders with progressive atrophy of the frontal and/or anterior temporal…
- Horner syndromeA clinical sign complex caused by interruption of the oculosympathetic pathway anywhere from the…
- HTLV-1-associated myelopathy / tropical spastic paraparesisA chronic inflammatory myelopathy, abbreviated HAM/TSP, that develops in a small proportion of people…
- Idiopathic intracranial hypertensionA condition with raised intracranial pressure and papilloedema but normal brain imaging and normal…
- Lambert-Eaton myasthenic syndromeAn autoimmune disorder in which antibodies against presynaptic voltage-gated calcium channels reduce…
- MeningiomaA tumour arising from arachnoid cap cells of the meninges, attached to the dura mater. Most are benign (WHO…
- Multiple system atrophy (MSA)A sporadic, adult-onset neurodegenerative disease in which alpha-synuclein builds up inside glial cells…
- Myalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS)A chronic, multisystem illness defined by a substantial drop in activity lasting more than 6 months with…
- Myasthenia gravisA chronic autoimmune disease of the neuromuscular junction in which antibodies against the acetylcholine…
- Myotonic dystrophy (types 1 and 2)An autosomal dominant multisystem disorder in which muscles weaken and waste and are slow to relax after…
- NarcolepsyA chronic neurological disorder of the brain systems that control sleep and wakefulness. Its hallmark is…
- Neurofibromatosis (types 1 and 2)A group of autosomal dominant tumour-predisposition syndromes affecting the nervous system and skin. Type 1…
- Neuromyelitis optica spectrum disorderA relapsing autoimmune inflammatory disease of the central nervous system that mainly targets the optic…
- Oculomotor (third) nerve palsyWeakness or paralysis of the muscles supplied by the oculomotor nerve (cranial nerve III), which lifts the…
- Osmotic demyelination syndrome (central pontine myelinolysis)Acute demyelination of the central pons, and sometimes other brain areas (extrapontine myelinolysis), that…
- Periodic paralyses (hypokalaemic, hyperkalaemic, thyrotoxic)A group of skeletal-muscle channelopathies in which the muscle membrane transiently becomes inexcitable…
- Progressive supranuclear palsyA neurodegenerative tauopathy and the most common atypical parkinsonism. Neurons and glia in the midbrain…
- Raised intracranial pressure and brain herniationA sustained rise in the pressure inside the skull, usually above 20–22 mmHg in adults, caused by extra…
- REM sleep behaviour disorder (RBD)A parasomnia in which the normal muscle paralysis (atonia) of REM sleep is lost, so patients move, shout…
- Restless legs syndromeA common sensorimotor sleep disorder (also called Willis-Ekbom disease) defined by an urge to move the legs…
- Spinal muscular atrophyAn autosomal recessive motor neuron disease in which the anterior horn cells of the spinal cord and motor…
- Spinocerebellar ataxias (autosomal dominant ataxias)A large group (more than 40 types) of autosomal dominant, progressive neurodegenerative disorders of the…
- Status epilepticusA seizure lasting 5 minutes or more, or two or more seizures without full recovery of consciousness between…
- Subacute combined degeneration (vitamin B12)Degeneration of the dorsal columns and lateral corticospinal tracts of the spinal cord caused by vitamin B12…
- Syringomyelia and Chiari malformationChiari malformation type I is a downward displacement of the cerebellar tonsils through the foramen magnum…
- Transverse myelitisAn acute or subacute inflammatory disorder of the spinal cord that affects both sides of one or more…
- Tuberous sclerosis complexAn autosomal dominant genetic disorder caused by TSC1 or TSC2 variants that produces benign hamartomas in…
- Vascular dementiaA major neurocognitive disorder caused by cerebrovascular disease, from large strokes, multiple small…
Obstetrics and gynecology
- Acute fatty liver of pregnancyA rare obstetric emergency of the third trimester (or early postpartum) in which microvesicular fat…
- Amniotic fluid disorders (polyhydramnios, oligohydramnios)An abnormal volume of amniotic fluid for gestational age. Polyhydramnios is an excess (amniotic fluid index…
- Amniotic fluid embolismAn unpredictable obstetric catastrophe in which fetal material from the amniotic fluid enters the maternal…
- Asherman syndrome (intrauterine adhesions)Acquired scarring within the uterine cavity, in which fibrous bands (synechiae) join the opposing walls…
- Breech and other malpresentationsBreech presentation means the fetal buttocks or feet lie over the pelvic inlet instead of the head. Other…
- Cervical insufficiencyPainless dilation of the cervix in the second trimester, without contractions or labour, that leads to…
- Cervical intraepithelial neoplasia (cervical dysplasia)A precancerous change of the squamous epithelium of the cervix, almost always caused by persistent infection…
- Chorioamnionitis (intra-amniotic infection)Infection and inflammation of the amniotic fluid, chorion and amnion, and often the placenta and umbilical…
- EclampsiaNew-onset generalised tonic-clonic seizures, or coma, in a woman with preeclampsia that are not explained by…
- Endometrial hyperplasiaAbnormal thickening of the endometrium caused by proliferation of glands out of proportion to stroma. It is…
- Female infertilityFailure to achieve a clinical pregnancy after 12 months of regular unprotected intercourse, or after 6…
- Fetal growth restrictionFailure of the fetus to reach its genetic growth potential, usually defined as an estimated fetal weight or…
- Functional hypothalamic amenorrhoeaAbsence of menses caused by suppression of the pulsatile secretion of gonadotropin-releasing hormone (GnRH)…
- Genitourinary syndrome of menopause (atrophic vaginitis)A chronic, progressive set of vulvovaginal, sexual and urinary symptoms and signs caused by oestrogen…
- Gestational diabetes mellitusHyperglycaemia first recognised in the second or third trimester in a woman without known diabetes before…
- Gestational trophoblastic neoplasia (choriocarcinoma)The malignant end of gestational trophoblastic disease: trophoblast tissue that persists or invades after a…
- HELLP syndromeA severe form of the preeclampsia spectrum defined by three laboratory findings: Haemolysis, Elevated Liver…
- Hyperemesis gravidarumThe most severe end of nausea and vomiting of pregnancy: persistent vomiting that causes weight loss (often…
- Intraductal papilloma of the breastA benign papillary tumour growing inside a breast duct, made of fibrovascular cores covered by epithelial…
- Intrahepatic cholestasis of pregnancyA pregnancy-specific liver disorder in which bile flow is reduced and bile acids accumulate in the mother’s…
- Intrapartum fetal compromise (non-reassuring fetal status)Evidence during labour, mainly from the fetal heart rate pattern, that the fetus may be hypoxic or acidotic…
- Labour dystocia (arrest of labour, cephalopelvic disproportion)Abnormally slow (protracted) or stopped (arrested) progress of labour, measured as cervical dilation in the…
- Menopause and climacteric syndromeMenopause is the permanent end of menstruation caused by loss of ovarian follicular activity, confirmed…
- Müllerian anomalies (MRKH, septate uterus, imperforate hymen)Congenital malformations of the female reproductive tract caused by failed formation, fusion or resorption…
- Multiple pregnancy and twin–twin transfusion syndromeA pregnancy with more than one fetus. Twins may be dizygotic (two eggs, always dichorionic) or monozygotic…
- Obstetric fistula (vesicovaginal and rectovaginal)An abnormal opening between the vagina and the bladder (vesicovaginal), urethra, ureter or rectum…
- Ovarian germ-cell and sex cord–stromal tumoursNon-epithelial ovarian neoplasms: germ-cell tumours arising from primordial germ cells (mature cystic…
- Ovarian hyperstimulation syndromeAn iatrogenic complication of ovarian stimulation in assisted reproduction, in which enlarged ovaries…
- Placenta accreta spectrumAbnormal, deep attachment of the placenta to the uterine wall because the normal decidual layer is missing…
- Post-term pregnancyA pregnancy that reaches or passes 42 weeks 0 days (294 days) from the first day of the last menstrual…
- Premature rupture of membranes (PROM and PPROM)Rupture of the fetal membranes before the onset of labour. When it happens before 37 weeks it is called…
- Premenstrual syndrome and premenstrual dysphoric disorderPremenstrual syndrome (PMS) is a pattern of physical and emotional symptoms that appear in the luteal phase…
- Preterm labour and birthRegular uterine contractions with progressive cervical change (dilation or effacement) before 37 completed…
- Primary ovarian insufficiencyLoss of normal ovarian function before 40 years of age, with oligomenorrhoea or amenorrhoea, raised…
- Puerperal infection (postpartum endometritis and maternal sepsis)Bacterial infection of the genital tract that develops after birth or miscarriage, up to 42 days postpartum…
- Rh alloimmunisation in pregnancyFormation of maternal antibodies against the RhD antigen of fetal red blood cells after exposure to…
- Septic and unsafe abortionInfection of the uterus and its contents during or after a spontaneous or induced abortion, which can spread…
- Sexual violence (care of the survivor)Any sexual act, attempt or behaviour imposed on a person without their free consent, by force, coercion…
- Shoulder dystociaAn obstetric emergency in which, after delivery of the fetal head, gentle downward traction fails to deliver…
- Stillbirth (intrauterine fetal death)Death of the fetus before complete expulsion from the mother at an advanced gestational age. WHO uses 28…
- Umbilical cord prolapseDescent of the umbilical cord alongside (occult) or in front of (overt) the presenting part after the…
- Uterine inversionAn obstetric emergency in which the uterine fundus collapses into the uterine cavity and may pass through…
- Uterine ruptureA full-thickness tear of the uterine wall, including the serosa, during pregnancy or labour, usually at the…
- Vasa previaA condition in which fetal blood vessels, unprotected by umbilical cord or placental tissue, run through the…
- Vulvar lichen sclerosus and vulvar cancerLichen sclerosus is a chronic inflammatory, likely autoimmune, skin disease of the anogenital area causing…
Ophthalmology and ENT
- Acute mastoiditisAcute bacterial infection of the mastoid air cells of the temporal bone, almost always a complication of…
- Acute suppurative sialadenitis (bacterial parotitis)Acute bacterial infection of a major salivary gland, most often the parotid and less often the submandibular…
- Central retinal artery occlusionSudden blockage of the central retinal artery, the branch of the ophthalmic artery that feeds the inner…
- Central retinal vein occlusionBlockage of the central retinal vein, usually at or behind the lamina cribrosa of the optic disc, which…
- Chemical eye injuryDamage to the cornea, conjunctiva and eyelids caused by contact with an acid or an alkali. Alkali burns are…
- CholesteatomaA cyst-like mass of keratinising squamous epithelium and keratin debris in the middle ear and mastoid. It is…
- Chronic rhinosinusitis and nasal polypsInflammation of the nasal and paranasal sinus mucosa lasting 12 weeks or more, with two or more symptoms…
- Corneal abrasion and ocular foreign bodyLoss of part of the corneal epithelium from a scratch (fingernail, branch, contact lens) or from a small…
- Dacryocystitis and nasolacrimal duct obstructionNasolacrimal duct obstruction is a partial or complete blockage of the passage that carries tears from the…
- Dry eye diseaseA chronic, multifactorial disorder of the ocular surface in which the tear film becomes unstable or…
- EndophthalmitisInflammation, almost always infectious, of the internal cavities of the eye: the vitreous and the aqueous…
- Foreign bodies of the ear and noseAn object placed in or entering the external ear canal or the nasal cavity. Children usually insert beads…
- Head and neck squamous cell carcinoma (oral cavity and oropharynx, HPV)A malignant tumour of the squamous lining of the upper aerodigestive tract; this page covers the oral cavity…
- Hearing loss (conductive and sensorineural, including sudden hearing loss)A reduced ability to hear in one or both ears. Conductive loss comes from problems that block sound in the…
- Herpes zoster ophthalmicusReactivation of varicella-zoster virus in the trigeminal ganglion affecting the ophthalmic division (V1)…
- Hypertensive retinopathyChanges in the retinal arterioles and retina caused by high blood pressure, ranging from silent narrowing of…
- Juvenile nasopharyngeal angiofibromaA benign, highly vascular fibrous tumour that arises near the sphenopalatine foramen on the posterolateral…
- Keratitis and corneal ulcerInflammation of the cornea, the clear front window of the eye, most often from infection. When the surface…
- Nasal fracture and septal haematomaA fracture of the nasal bones, often with injury to the nasal septum and cartilages, caused by a blow to the…
- Nasopharyngeal carcinomaA malignant epithelial tumour of the nasopharynx, usually arising in the lateral recess (fossa of…
- Ocular toxoplasmosis (retinochoroiditis)A necrotising retinochoroiditis caused by Toxoplasma gondii, acquired after birth or congenitally. It is the…
- Ocular trauma: hyphema and open globe injuryHyphema is bleeding into the anterior chamber, usually after blunt trauma tears vessels of the iris or…
- Optic neuritisInflammatory demyelination of the optic nerve that causes subacute vision loss in one eye, usually with pain…
- Otitis media with effusion and chronic suppurative otitis mediaTwo forms of long-standing middle ear disease. Otitis media with effusion (OME) is non-infected fluid behind…
- OtosclerosisA disease of bone remodelling in the otic capsule of the temporal bone. New spongy bone forms around the…
- PterygiumA benign, triangular fibrovascular growth of the bulbar conjunctiva that extends onto the cornea, almost…
- Recurrent aphthous stomatitisThe most common cause of recurrent oral ulcers. Aphthous ulcers are round or oval, shallow, painful ulcers…
- Refractive errors and presbyopiaRefractive errors are conditions in which the cornea and lens do not focus light exactly on the retina, so…
- RetinoblastomaA malignant tumour arising from immature retinal cells, almost always in children under 5. It is the most…
- Scleritis and episcleritisTwo inflammatory causes of a red eye that differ in depth and severity. Episcleritis affects the thin…
- Thyroglossal duct cyst and branchial cleft cystThe two most common congenital neck masses. A thyroglossal duct cyst is a remnant of the tract along which…
- Thyroid eye disease (Graves orbitopathy)An autoimmune inflammation of the orbital fat and extraocular muscles, most often linked to Graves disease…
- Tonsillar hypertrophy and recurrent tonsillitis (post-tonsillectomy care)Enlargement of the palatine tonsils and adenoids (pharyngeal tonsil), which can obstruct breathing and…
- TrachomaA chronic keratoconjunctivitis caused by repeated infection with Chlamydia trachomatis (ocular serovars A to…
- Vestibular neuritis and labyrinthitisVestibular neuritis is an inflammation of the vestibular part of the eighth cranial nerve that causes an…
- Vocal fold nodules, polyps and laryngitisA group of common benign disorders of the vocal folds that cause hoarseness. Laryngitis is inflammation of…
- Vocal fold paralysis (recurrent laryngeal nerve injury)Loss of movement of one or both vocal folds due to injury of the vagus nerve or its recurrent laryngeal…
Pediatrics and neonatology
- AchondroplasiaA genetic skeletal dysplasia in which growth of bone from cartilage (endochondral ossification) is impaired…
- Acute epiglottitisAcute inflammation and swelling of the epiglottis and surrounding supraglottic tissues, usually bacterial…
- Anorectal malformations (imperforate anus)A spectrum of congenital defects of the distal rectum and anus in which the anal opening is absent, narrowed…
- Apnoea of prematurityBreathing pauses of 20 seconds or more, or shorter pauses with bradycardia or desaturation, in an infant…
- Autosomal recessive polycystic kidney diseaseAn inherited ciliopathy (biallelic PKHD1 variants) in which the kidney collecting ducts dilate into tiny…
- Beckwith–Wiedemann syndromeThe most common congenital overgrowth syndrome, caused by altered imprinted genes on chromosome 11p15…
- Biliary atresiaA progressive inflammatory and fibrosing obliteration of the extrahepatic bile ducts in infancy, causing…
- Bronchiolitis (RSV)Acute viral infection of the lower respiratory tract in children under 2 years, with inflammation and mucus…
- Bronchopulmonary dysplasiaChronic lung disease of infancy in which very preterm babies, usually after oxygen therapy or mechanical…
- Cerebral palsyA group of permanent disorders of movement and posture caused by a non-progressive injury or malformation of…
- Chédiak–Higashi syndromeAn autosomal recessive disorder of lysosome trafficking caused by LYST variants. Giant fused lysosomal…
- Child maltreatment (physical abuse, abusive head trauma, neglect)Any abuse or neglect of a person under 18 years by a parent, caregiver or other person in a position of…
- Chronic granulomatous diseaseA primary immunodeficiency of phagocytes caused by a defective NADPH oxidase. Neutrophils and macrophages…
- Common variable immunodeficiency (CVID)A primary antibody deficiency in which B cells fail to mature into antibody-producing plasma cells. Serum…
- Complement deficienciesA group of mostly inherited primary immunodeficiencies in which one complement protein is missing or does…
- Congenital (TORCH) infections: syphilis, toxoplasmosis, CMV and ZikaA group of infections transmitted from the mother to the fetus across the placenta (or at birth) that can…
- Congenital diaphragmatic herniaA developmental defect of the diaphragm through which abdominal organs herniate into the chest during fetal…
- Congenital hypothyroidismThyroid hormone deficiency present at birth, usually due to a missing, misplaced or underdeveloped thyroid…
- Cri-du-chat syndrome (5p deletion)A chromosomal disorder caused by deletion of part of the short arm of chromosome 5 (5p-). It is named for…
- Croup (laryngotracheobronchitis)Acute viral inflammation of the larynx and trachea, mainly in children aged 6 months to 3 years, with…
- Dehydration in children (acute diarrhoeal disease)Loss of body water and electrolytes in a child, most often from acute diarrhoea with or without vomiting…
- DiGeorge syndrome (22q11.2 deletion syndrome)A multisystem genetic disorder caused by a microdeletion on the long arm of chromosome 22 (22q11.2), which…
- Down syndrome (trisomy 21)The most common chromosomal cause of intellectual disability, due to an extra copy of chromosome 21. It…
- Duodenal and intestinal atresiaCongenital complete obstruction (atresia) or narrowing (stenosis) of the bowel lumen. Duodenal atresia…
- Erythema infectiosum (fifth disease, parvovirus B19)A common, usually mild viral exanthem of school-age children caused by human parvovirus B19. After a short…
- Esophageal atresia and tracheoesophageal fistulaA congenital interruption of the oesophagus, which ends in a blind upper pouch, usually combined with an…
- Failure to thrive (faltering growth)A sign, not a diagnosis: a child's weight, or rate of weight gain, falls well below that expected for age…
- Febrile seizuresA seizure in a child about 6 months to 5 years old that occurs with a fever of 38 °C or higher, without…
- Fetal alcohol spectrum disorderA group of lifelong conditions caused by prenatal alcohol exposure, ranging from fetal alcohol syndrome…
- Foreign body aspiration in childrenEntry of a solid object, most often food such as nuts or seeds, into the larynx, trachea or bronchi. It…
- Functional constipation in childrenConstipation in a child without an organic cause, defined by infrequent, hard or painful bowel movements…
- Gastroschisis and omphaloceleCongenital abdominal wall defects in which abdominal contents lie outside the body at birth. In…
- Hand, foot and mouth diseaseA contagious viral illness, mostly of children under 5, caused by enteroviruses. It produces fever, painful…
- Hemolytic uremic syndrome (HUS)A thrombotic microangiopathy defined by the triad of microangiopathic haemolytic anaemia, thrombocytopenia…
- Hirschsprung diseaseA congenital disorder in which ganglion cells are absent from the wall of the distal bowel, so the affected…
- Hyper-IgE syndrome (Job syndrome)A primary immunodeficiency, classically autosomal dominant and caused by STAT3 variants, characterised by…
- Hyper-IgM syndrome (CD40 ligand deficiency)A group of primary immunodeficiencies with a defect in immunoglobulin class-switch recombination: IgG, IgA…
- Infantile spasms (West syndrome)An epileptic encephalopathy of infancy, now called infantile epileptic spasms syndrome. West syndrome is the…
- Intestinal malrotation with midgut volvulusMalrotation is an abnormal rotation and fixation of the midgut during fetal life, leaving a narrow…
- Intraventricular haemorrhage of prematurityBleeding that starts in the germinal matrix, a fragile vascular zone next to the lateral ventricles over the…
- Kawasaki diseaseAn acute, self-limited inflammation of medium-sized arteries in young children, recognised by five or more…
- Klinefelter syndrome (47,XXY)A sex-chromosome condition of males with at least one extra X chromosome, most often 47,XXY. It is the most…
- Leukocyte adhesion deficiencyA group of rare autosomal recessive phagocyte disorders in which neutrophils cannot adhere to the vessel…
- Marfan syndromeAn autosomal dominant connective tissue disorder caused by mutations in FBN1, the gene for fibrillin-1. It…
- MeaslesAn acute, highly contagious infection by the measles virus (a paramyxovirus) that causes fever, cough…
- Meckel diverticulumA true diverticulum of the antimesenteric border of the distal ileum, left when the vitelline…
- Meconium aspiration syndromeRespiratory distress in a newborn born through meconium-stained amniotic fluid, with compatible chest X-ray…
- Multisystem inflammatory syndrome in children (MIS-C)A post-infectious hyperinflammatory syndrome that follows SARS-CoV-2 infection by about 2–6 weeks. Fever and…
- Necrotising enterocolitisAn acute inflammatory and ischaemic necrosis of the intestinal wall, typically of the terminal ileum and…
- Neonatal abstinence syndromeA drug-withdrawal syndrome in newborns exposed in utero to substances, mainly opioids, causing central…
- Neonatal birth injuries (caput, cephalohaematoma, clavicle fracture)Injuries to the newborn caused by mechanical forces during labor and delivery. The most common are caput…
- Neonatal hypoglycaemia (including infant of a diabetic mother)A low plasma glucose level in a newborn, below the threshold that the brain needs, usually in the first…
- Neonatal respiratory distress syndrome (hyaline membrane disease)Acute respiratory failure of the newborn, mainly the preterm infant, caused by a deficiency of pulmonary…
- Neonatal sepsisA systemic infection, usually bacterial, in an infant within the first 28 days of life, confirmed or…
- NeuroblastomaAn embryonal tumour arising from neural crest cells of the sympathetic nervous system, most often in the…
- Nocturnal enuresisInvoluntary passage of urine during sleep at least once a month (more often for diagnostic criteria) in a…
- Noonan syndromeAn autosomal dominant RASopathy caused by variants in genes of the RAS/MAPK signaling pathway, most often…
- Perinatal asphyxia and hypoxic-ischaemic encephalopathyPerinatal asphyxia is impaired gas exchange around birth leading to hypoxaemia, hypercapnia and metabolic…
- Persistent pulmonary hypertension of the newbornFailure of the normal fall in pulmonary vascular resistance after birth. Pulmonary pressure stays at or…
- Pertussis (whooping cough)Highly contagious respiratory infection caused by Bordetella pertussis, with weeks of paroxysmal coughing…
- Posterior urethral valvesA congenital obstruction of the male posterior (prostatic) urethra caused by abnormal membranous folds. It…
- Prader–Willi and Angelman syndromes (imprinting)Two neurodevelopmental syndromes caused by loss of imprinted genes in 15q11–q13: Prader–Willi (paternal…
- Prematurity and its complicationsBirth before 37 completed weeks of gestation. The preterm infant's immature organs expose it to a typical…
- Retinopathy of prematurityA vasoproliferative disorder of the immature retina in preterm infants. Normal retinal vascular growth stops…
- Rett syndromeAn X-linked neurodevelopmental disorder, almost always due to MECP2 variants, that affects mainly girls…
- Reye syndromeAn acute, non-inflammatory encephalopathy with fatty degeneration of the liver that typically follows a…
- Roseola infantum (exanthem subitum)A viral exanthem of infants and toddlers, usually caused by human herpesvirus 6 (HHV-6) and less often…
- Rubella and congenital rubella syndromeRubella (German measles) is a mild, contagious viral infection caused by the rubella virus (genus…
- Scarlet feverAn illness caused by toxin-producing strains of group A Streptococcus (Streptococcus pyogenes), usually from…
- Selective IgA deficiencyA primary antibody deficiency defined by very low or absent serum IgA with normal IgG and IgM and normal…
- Sturge–Weber syndromeA sporadic neurocutaneous disorder (phakomatosis) in which capillary-venous malformations affect the facial…
- Sudden infant death syndrome (SIDS)The sudden death of an infant under 1 year of age, usually during sleep, that remains unexplained after a…
- Transient synovitis of the hipA self-limiting, non-bacterial inflammation of the synovial membrane of the hip, also called toxic synovitis…
- Transient tachypnea of the newbornA self-limited respiratory disorder of term and late-preterm newborns caused by delayed clearance of fetal…
- Trisomy 18 (Edwards) and trisomy 13 (Patau)Two autosomal trisomies, usually caused by an extra full copy of chromosome 18 (Edwards syndrome) or…
- Turner syndromeA sex-chromosome condition of females in whom one X chromosome is absent or structurally abnormal in all or…
- VACTERL associationA non-random association of congenital anomalies: Vertebral defects, Anal atresia, Cardiac defects…
- Varicella (chickenpox)The primary infection by varicella-zoster virus (VZV), a herpesvirus, causing fever and an itchy vesicular…
- Williams syndromeA multisystem genetic disorder caused by a microdeletion of chromosome 7q11.23 that includes the elastin…
- Wilms tumour (nephroblastoma)A malignant embryonal tumour of the kidney arising from persistent primitive renal tissue (nephrogenic…
- Wiskott–Aldrich syndromeAn X-linked primary immunodeficiency caused by mutations in the WAS gene. Its classic triad is eczema…
- X-linked (Bruton) agammaglobulinaemiaA primary humoral immunodeficiency caused by mutations in Bruton tyrosine kinase (BTK), which arrests B-cell…
Pelvis
- Abnormal uterine bleedingBleeding from the uterus that is abnormal in frequency, regularity, duration or volume, or that occurs…
- AdenomyosisA benign condition in which endometrial glands and stroma grow inside the myometrium, making the uterus…
- Anorectal abscess and fistulaA collection of pus in the spaces around the anus and rectum, usually from an infected anal gland. A chronic…
- Bacterial vaginosisA change in the vaginal flora in which protective lactobacilli are replaced by a mix of anaerobic bacteria…
- Bartholin gland cyst and abscessA fluid-filled swelling of a Bartholin gland, at the back of the vulvar vestibule, caused by blockage of its…
- Bladder cancerA malignant tumour of the bladder lining, most often urothelial carcinoma, that typically presents with…
- Cervical cancerA malignant tumour of the uterine cervix, almost always caused by persistent infection with high-risk human…
- Chlamydia infectionA sexually transmitted infection caused by Chlamydia trachomatis that affects men and women. It is usually…
- DysmenorrhoeaPainful menstruation. Primary dysmenorrhoea is cramping pain with no pelvic disease; secondary dysmenorrhoea…
- Ectopic pregnancyA pregnancy that implants outside the uterine cavity, most often in the ampulla of the uterine tube. It…
- Endometrial cancerA malignant tumour arising from the lining of the uterus (endometrium). It usually presents early with…
- EndometriosisA chronic, oestrogen-dependent inflammatory disease in which endometrium-like tissue grows outside the…
- GonorrhoeaA sexually transmitted infection caused by the bacterium Neisseria gonorrhoeae that affects men and women…
- HaemorrhoidsEnlarged, symptomatic vascular cushions of the anal canal. Internal haemorrhoids arise above the dentate…
- Human papillomavirus (HPV) infectionInfection with human papillomavirus, a DNA virus passed mainly by sexual skin-to-skin contact. Most…
- Miscarriage (early pregnancy loss)Spontaneous loss of an intrauterine pregnancy before the fetus can survive, usually defined as before 20…
- Molar pregnancy (hydatidiform mole)An abnormal pregnancy in which the placenta (trophoblast) grows as swollen, fluid-filled villi due to an…
- Obstetric perineal tears and anal sphincter injuryTears of the perineum and vagina during vaginal birth, graded from first to fourth degree. Third- and…
- Ovarian cancerA malignant tumour of the ovary, the uterine tube or the peritoneum. Most are epithelial cancers, and the…
- Ovarian cystA fluid-filled sac in or on the ovary. Most are functional cysts linked to the menstrual cycle that resolve…
- Ovarian torsionPartial or complete twisting of the ovary on its supporting ligaments, often together with the uterine tube…
- Pelvic inflammatory diseaseInfection and inflammation of the upper female genital tract (endometrium, uterine tubes, ovaries and pelvic…
- Pelvic organ prolapseDescent of one or more pelvic organs (bladder, uterus or vaginal vault, rectum or small bowel) into or…
- Placenta praeviaA placenta implanted in the lower uterine segment that covers or lies very close to the internal cervical…
- Placental abruptionSeparation of a normally implanted placenta from the uterine wall before the baby is born, after 20 weeks…
- Polycystic ovary syndromeA common endocrine and metabolic disorder of reproductive age, defined by combinations of ovulatory…
- Postpartum haemorrhageExcessive bleeding after birth, classically defined as cumulative blood loss of 1000 mL or more, or any loss…
- PreeclampsiaA pregnancy disorder with new high blood pressure after 20 weeks and either proteinuria or signs of organ…
- Rectal prolapseProtrusion of the rectum through the anus. In full-thickness prolapse the whole rectal wall turns inside…
- Stress urinary incontinenceInvoluntary leakage of urine on effort or exertion, such as coughing, sneezing, laughing, lifting or…
- TrichomoniasisA sexually transmitted infection caused by the flagellated protozoan Trichomonas vaginalis. It infects the…
- Urinary tract infection (acute cystitis)Bacterial infection of the lower urinary tract with inflammation of the bladder (cystitis), most often from…
- Uterine fibroids (leiomyomas)Benign smooth-muscle tumours of the myometrium (leiomyomas), the most common pelvic tumour in women of…
- Vulvovaginal candidiasisInflammation of the vulva and vagina caused by Candida yeasts, mainly Candida albicans. It causes itching…
pelvis_m
- Benign prostatic hyperplasiaNon-cancerous growth of the prostate's transition zone around the urethra, common in ageing men. It can…
- Cryptorchidism (undescended testis)A testis that is not in the bottom of the scrotum and cannot be brought there, because it stopped along its…
- EpididymitisInflammation of the epididymis, usually from infection, causing gradual pain and swelling at the back of the…
- Erectile dysfunctionPersistent or recurrent inability to achieve or keep an erection firm enough for satisfactory sexual…
- HydroceleA collection of fluid between the layers of the tunica vaginalis around the testis, causing a painless…
- HypospadiasCongenital anomaly in which the urethral opening is on the underside of the penis, from just below the tip…
- Peyronie diseaseAcquired fibrous scarring of the tunica albuginea of the corpora cavernosa, forming a plaque that causes…
- PhimosisInability to retract the foreskin (prepuce) over the glans penis. It is normal (physiological) in young boys…
- PriapismA full or partial erection that lasts more than four hours (a widely used cut-off) and is unrelated to, or…
- Prostate cancerA malignant tumour of the prostate, mostly acinar adenocarcinoma arising in the peripheral zone. It ranges…
- ProstatitisInflammation of the prostate. This page focuses on acute bacterial prostatitis, a sudden infection of the…
- Testicular cancerMalignant tumour of the testis, most often a germ cell tumour (seminoma or non-seminoma). It usually…
- Testicular torsionTwisting of the spermatic cord that cuts off blood flow to the testis. It is a surgical emergency: the…
- VaricoceleDilated, tortuous veins of the pampiniform plexus in the spermatic cord. Usually left-sided, it is the most…
Psychiatry
- Adjustment disorderA stress-related disorder in which a person develops emotional or behavioural symptoms within 3 months of an…
- Alcohol use disorderA problematic pattern of alcohol use causing clinically significant impairment or distress, with loss of…
- Alcohol withdrawal and delirium tremensA syndrome of nervous-system overactivity that starts hours to days after a person with long, heavy alcohol…
- Anorexia nervosaAn eating disorder marked by restriction of energy intake leading to a significantly low body weight, an…
- Antipsychotic-induced movement disorders (dystonia, akathisia, parkinsonism, tardive dyskinesia)A group of extrapyramidal syndromes caused by drugs that block dopamine D2 receptors, above all…
- Attention-deficit/hyperactivity disorder (ADHD)A neurodevelopmental disorder with a persistent pattern of inattention and/or hyperactivity-impulsivity that…
- Autism spectrum disorder (ASD)A neurodevelopmental disorder defined by persistent deficits in social communication and interaction plus…
- Binge-eating disorderAn eating disorder marked by recurrent binges, eating much more food than most people would in a short…
- Bipolar disorderA chronic mood disorder with episodes of mania or hypomania (elevated or irritable mood with increased…
- Body dysmorphic disorder, hoarding disorder and trichotillomaniaThis page groups the main obsessive-compulsive related disorders. Body dysmorphic disorder (BDD) is…
- Bulimia nervosaAn eating disorder with recurrent binge eating (a large amount of food with a sense of loss of control)…
- Cannabis use disorderA substance use disorder in which repeated cannabis use leads to loss of control, craving and harm in…
- CatatoniaA neuropsychiatric syndrome of marked motor and behavioural abnormalities, such as stupor, mutism, rigid…
- Conduct disorder and oppositional defiant disorderTwo related disruptive behaviour disorders of childhood and adolescence. Oppositional defiant disorder (ODD)…
- DeliriumAn acute, fluctuating disturbance of attention and awareness with disorganised thinking or other cognitive…
- Disruptive mood dysregulation disorder (DMDD)A depressive disorder of childhood characterised by severe recurrent temper outbursts (verbal or physical)…
- Dissociative disordersA group of disorders with a disruption of the normal integration of consciousness, memory, identity…
- Factitious disorder and malingeringFactitious disorder is a mental disorder in which a person deliberately falsifies, exaggerates or induces…
- Functional neurological symptom disorder (conversion disorder)A condition in which a person has genuine, involuntary neurological symptoms (weakness, abnormal movements…
- Gambling disorderA behavioural addiction defined by persistent and recurrent problematic gambling that causes significant…
- Gender dysphoriaA diagnosis that describes clinically significant distress or impairment caused by a marked incongruence…
- Generalized anxiety disorderAn anxiety disorder with excessive, hard-to-control worry about many everyday matters on most days for at…
- Hallucinogen and dissociative drug intoxication (LSD, PCP, ketamine)An acute syndrome of altered perception, mood and thinking after use of a psychedelic (LSD, psilocybin…
- Insomnia disorderPersistent difficulty starting or keeping sleep, or waking too early, despite adequate opportunity to sleep…
- Intimate partner and sexual violence (mental-health care)Behaviour by a current or former partner that causes physical, sexual or psychological harm, including…
- Lithium toxicityPoisoning from excess lithium, a mood stabiliser with a narrow margin between effective and toxic blood…
- Major depressive disorderA mood disorder defined by at least two weeks of depressed mood or loss of interest or pleasure (anhedonia)…
- Neuroleptic malignant syndromeA medical emergency caused by dopamine D2 receptor blockade (or abrupt withdrawal of dopaminergic drugs)…
- Obsessive-compulsive disorder (OCD)A chronic mental disorder defined by obsessions (intrusive, unwanted thoughts, images or urges that cause…
- Opioid use disorder, overdose and withdrawalA chronic, relapsing disorder in which a person keeps using opioids (heroin, fentanyl or prescription…
- Panic disorderAn anxiety disorder with recurrent, unexpected panic attacks (sudden surges of intense fear with strong…
- Paraphilic disordersA group of disorders defined by recurrent, intense sexually arousing fantasies, urges or behaviours…
- Perinatal depression and postpartum psychosisA spectrum of mood disorders linked to pregnancy and the months after childbirth. Postpartum blues are brief…
- Persistent depressive disorder (dysthymia)A chronic depressive disorder in which depressed mood is present on most days for at least 2 years in…
- Personality disorders (clusters A, B and C)An enduring, inflexible pattern of inner experience and behaviour that deviates markedly from cultural…
- Post-traumatic stress disorder (PTSD) and acute stress disorderA mental disorder that may develop after exposure to an extremely threatening or horrific event (violence…
- Premenstrual dysphoric disorder (PMDD)A depressive disorder tied to the menstrual cycle. Marked mood symptoms (irritability, mood swings…
- Prolonged grief disorderA stress-related mental disorder in which grief after the death of someone close remains intense, persistent…
- Schizoaffective, schizophreniform, brief psychotic and delusional disordersA group of primary psychotic disorders related to schizophrenia. Brief psychotic disorder lasts at least 1…
- SchizophreniaA chronic psychotic disorder with positive symptoms (delusions, hallucinations, disorganised speech and…
- Sedative-hypnotic (benzodiazepine) use disorder and withdrawalA substance use disorder involving sedatives, hypnotics or anxiolytics, mainly benzodiazepines, the related…
- Separation anxiety disorderAn anxiety disorder in which fear or distress about separation from home or from attachment figures is…
- Serotonin syndromeA potentially life-threatening drug reaction caused by excess serotonin activity in the central and…
- Social anxiety disorder and specific phobiaAnxiety disorders in which fear is out of proportion to the real danger and lasts 6 months or more. In…
- Somatic symptom and illness anxiety disordersIn somatic symptom disorder, one or more distressing physical symptoms are accompanied by excessive…
- Stimulant use disorder (cocaine, amphetamines)A substance use disorder involving cocaine (powder, crack or coca paste such as basuco) or amphetamine-type…
- Suicidal behaviour and suicide riskA spectrum that includes suicidal ideation, planning, suicide attempts and death by suicide. Suicide risk…
- Tobacco use disorderA substance use disorder in which nicotine dependence keeps a person using tobacco (cigarettes, cigars…
- Tourette syndrome and tic disordersTic disorders are neurodevelopmental conditions with tics: sudden, rapid, recurrent, non-rhythmic movements…
Pulmonology
- Acute bronchitisA self-limited inflammation of the trachea and large bronchi that causes a cough lasting up to about three…
- Acute respiratory failure (hypoxaemic and hypercapnic)A syndrome in which gas exchange fails over minutes to days, so arterial oxygen falls (hypoxaemic, type 1)…
- Allergic bronchopulmonary aspergillosis (ABPA)A hypersensitivity lung disease in which Aspergillus fumigatus colonises the bronchi of patients with asthma…
- Aspiration pneumonia and pneumonitisAspiration pneumonitis is acute chemical lung injury after inhaling sterile gastric contents. Aspiration…
- AtelectasisIncomplete expansion or collapse of alveoli in a segment, lobe or entire lung, with loss of volume. It is a…
- Cystic fibrosisAn autosomal recessive disease caused by mutations in the CFTR gene, which encodes a chloride channel in…
- Eosinophilic pneumonias (including Löffler syndrome)A group of lung diseases in which eosinophils accumulate in the alveoli and interstitium, usually with blood…
- Hospital-acquired and ventilator-associated pneumoniaHospital-acquired pneumonia (HAP) is pneumonia that appears 48 hours or more after admission and was not…
- Hypersensitivity pneumonitisAn immune-mediated interstitial lung disease caused by repeated inhalation of organic antigens (or some…
- Lung abscessA localised area of necrosis of lung tissue caused by infection, forming a cavity larger than 2 cm that…
- Malignant pleural mesotheliomaA malignant tumour arising from the mesothelial cells of the pleura. It spreads along the pleural surfaces…
- Mediastinal masses (thymoma and anterior mediastinal mass)Any tumour, cyst or enlarged node in the mediastinum. Location guides the differential: anterior masses are…
- Mediastinitis (acute and fibrosing)Inflammation of the mediastinum, the central chest space that holds the heart, great vessels, trachea…
- Obesity hypoventilation syndromeThe combination of obesity (body mass index of 30 or more) and daytime hypercapnia (arterial PaCO2 above 45…
- Parapneumonic effusion and empyemaA pleural effusion that develops next to a bacterial pneumonia or lung abscess. It may be simple (sterile…
- Pneumoconioses (silicosis, asbestosis, coal workers' pneumoconiosis)A group of occupational interstitial lung diseases caused by inhaling and retaining inorganic dust, which…
- SarcoidosisA multisystem inflammatory disease of unknown cause defined by non-caseating granulomas. The lungs and the…
- Solitary pulmonary noduleA single rounded opacity up to 3 cm in diameter surrounded by lung tissue, without associated…
Rheumatology
- Adult-onset Still diseaseA rare systemic autoinflammatory disorder of unknown cause, the adult counterpart of systemic juvenile…
- Antiphospholipid syndromeAn acquired autoimmune thrombophilia in which persistent antiphospholipid antibodies cause venous, arterial…
- Behçet diseaseA chronic, relapsing variable-vessel vasculitis that can involve arteries and veins of any size. Its…
- Complex regional pain syndromeA chronic pain condition, usually of a limb, in which pain is disproportionate in duration or intensity to…
- Cryoglobulinemic vasculitisA small-vessel vasculitis in which cryoglobulins (immunoglobulins that precipitate below body temperature)…
- Cutaneous small-vessel (leukocytoclastic, hypersensitivity) vasculitisInflammation limited to the small vessels of the skin (mostly post-capillary venules) that presents as…
- Eosinophilic granulomatosis with polyangiitis (Churg–Strauss)An ANCA-associated, necrotising small-vessel vasculitis with eosinophil-rich granulomatous inflammation. It…
- Familial Mediterranean fever and other hereditary autoinflammatory syndromesFamilial Mediterranean fever (FMF) is the most common hereditary autoinflammatory (periodic fever) syndrome…
- FibromyalgiaA chronic pain syndrome with widespread musculoskeletal pain lasting at least three months, together with…
- Granulomatosis with polyangiitisA necrotising granulomatous vasculitis of small and medium vessels, usually associated with ANCA directed…
- Hypertrophic osteoarthropathy and digital clubbingA syndrome of digital clubbing, new periosteal bone along the shafts of the tubular bones (periostosis) and…
- IgA vasculitis (Henoch–Schönlein purpura)A small-vessel vasculitis with IgA1-dominant immune deposits in the skin, gut, joints and kidneys. The…
- IgG4-related diseaseA chronic immune-mediated fibroinflammatory condition that forms tumour-like masses in one or several…
- Inclusion body myositisA chronic inflammatory and degenerative muscle disease and the most common acquired myopathy in people over…
- Inflammatory myopathies (dermatomyositis, polymyositis)A group of autoimmune diseases (idiopathic inflammatory myopathies) that inflame skeletal muscle and cause…
- Juvenile idiopathic arthritisAn umbrella term for chronic arthritis of unknown cause that begins before age 16 and lasts at least 6…
- Microscopic polyangiitisA necrotising small-vessel vasculitis with few or no immune deposits (pauci-immune) and no granulomas. It is…
- Mixed connective tissue diseaseAn overlap syndrome that combines features of systemic lupus erythematosus, systemic sclerosis and…
- Polyarteritis nodosaA systemic necrotising vasculitis of medium-sized muscular arteries that spares the lungs and does not…
- Polymyalgia rheumaticaAn inflammatory disorder of older adults that causes pain and prolonged morning stiffness in the shoulder…
- Primary angiitis of the central nervous systemAn inflammatory disease of small and medium arteries confined to the brain, spinal cord and meninges…
- Psoriatic arthritisA chronic inflammatory arthritis of the spondyloarthritis family that occurs in people with psoriasis or a…
- Reactive arthritisA sterile inflammatory arthritis that appears one to four weeks after a gastrointestinal or genitourinary…
- Relapsing polychondritisA rare immune-mediated disease with recurrent attacks of inflammation of cartilage and other tissues rich in…
- Sjögren diseaseA chronic systemic autoimmune disease in which lymphocytes infiltrate the exocrine glands, mainly the…
- Systemic sclerosis (scleroderma, including CREST)A chronic autoimmune connective-tissue disease marked by small-vessel damage and excess collagen (fibrosis)…
- Takayasu arteritisA chronic granulomatous large-vessel vasculitis of the aorta and its major branches, especially the…
Spine
- Abdominal aortic aneurysmPermanent dilation of the abdominal aorta to 3 cm or more (about 1.5 times normal), most often below the…
- Ankylosing spondylitisChronic inflammatory arthritis of the spine and sacroiliac joints, part of the spondyloarthritis family…
- Aortic dissectionA tear in the inner layer (intima) of the aorta that lets blood enter the media and split the wall, creating…
- Cauda equina syndromeCompression of several lumbar and sacral nerve roots of the cauda equina, below the end of the spinal cord…
- Cervical radiculopathyDysfunction of a cervical nerve root, usually from compression where it leaves the spine, causing neck and…
- Cervical SpondylosisAge-related wear of the cervical discs and facet joints that can narrow the spinal canal or foramina.
- Degenerative cervical myelopathySlowly progressive dysfunction of the cervical spinal cord caused by narrowing of the canal from age-related…
- Guillain-Barré syndromeAcute immune-mediated polyradiculoneuropathy that causes rapidly progressive, usually symmetrical weakness…
- Herpes zoster (shingles)Painful vesicular rash in one dermatome caused by reactivation of varicella-zoster virus that has stayed…
- Lumbar Disc HerniationDisplacement of the nucleus pulposus through the annulus fibrosus, most often at L4–L5 or L5–S1, which can…
- Lumbar spinal stenosisNarrowing of the lumbar spinal canal, lateral recesses or foramina that compresses the cauda equina or nerve…
- Mechanical low back painPain between the lower ribs and the gluteal folds that comes from the spine's muscles, ligaments, joints or…
- Osteoporotic vertebral compression fractureCollapse of the front of a vertebral body in bone weakened by osteoporosis, after little or no trauma. It is…
- Sacroiliac joint painPain arising from the sacroiliac joint or its ligaments, felt in the low back and buttock below the level of…
- ScoliosisThree-dimensional deformity of the spine with a side curve of 10 degrees or more measured by the Cobb angle…
- Spina bifida (myelomeningocele)Neural tube defect in which the vertebral arches fail to close and the spinal cord and its coverings…
- Spinal cord injuryDamage to the spinal cord, usually from trauma, that disrupts motor, sensory and autonomic function below…
- Spinal epidural abscessCollection of pus in the epidural space between the dura and the vertebral canal that can compress the…
- Spinal tuberculosis (Pott disease)Infection of the vertebrae and discs by Mycobacterium tuberculosis, usually spread through the blood from…
- SpondylolisthesisForward slip of one vertebral body over the one below, most often L5 on S1 or L4 on L5. It may cause low…
- TorticollisAbnormal twisted posture of the head and neck: the head tilts to one side while the chin turns to the other…
- Vertebral osteomyelitisInfection of the vertebral bodies and the disc between them (spondylodiscitis), most often bacterial and…
- Whiplash (cervical sprain)Soft-tissue injury of the neck from sudden acceleration and deceleration, most often in a rear-end car…
Surgery and trauma
- Abdominal compartment syndromeOrgan dysfunction caused by a sustained rise in intra-abdominal pressure. By international consensus…
- Basilar skull fractureA fracture of the skull base, involving the temporal bone (petrous part), the occipital bone, the sphenoid…
- Bladder and urethral injuryRupture or contusion of the bladder, or partial or complete disruption of the urethra, most often linked to…
- Blunt abdominal traumaInjury to the abdomen from impact, compression or deceleration without penetration of the abdominal wall…
- Blunt cardiac injuryA spectrum of heart injury caused by blunt chest trauma, ranging from a silent myocardial contusion with ECG…
- Blunt traumatic aortic injuryPartial or full-thickness tear of the thoracic aorta caused by rapid deceleration, most often at the aortic…
- Burns (thermal, chemical, electrical; inhalation injury)Tissue injury caused by heat (flames, scalds, contact), chemicals, electric current or radiation. Severity…
- Cervical spine fractureA fracture or ligament-unstable injury of one or more of the seven cervical vertebrae (C1–C7). Its…
- Chronic mesenteric ischemiaRecurrent intestinal ischaemia caused by gradual narrowing of the mesenteric arteries, usually from…
- Ewing sarcomaA malignant small round blue cell tumour of bone, and less often of soft tissue, defined by a fusion of the…
- Fat embolism syndromeA clinical syndrome of respiratory distress, neurological changes and a petechial rash caused by fat…
- Forearm fractures (both-bone, Monteggia, Galeazzi)Fractures of the shaft of the radius, the ulna or both bones. Because the two bones work as a ring joined at…
- Hand infections (paronychia, felon, flexor tenosynovitis)Bacterial (and sometimes viral or fungal) infections of the hand's closed spaces. The classic exam entities…
- Intra-abdominal abscessA localised collection of pus within the peritoneal cavity, the retroperitoneum or an abdominal organ…
- Liver injuryLaceration, haematoma or vascular disruption of the liver caused by blunt or penetrating trauma. The liver…
- Major trauma (polytrauma): ATLS primary surveySevere injury affecting two or more body regions or systems, at least one of them life-threatening. Care…
- Malignant hyperthermiaA pharmacogenetic disorder of skeletal muscle in which exposure to volatile inhaled anaesthetics or…
- Midface fractures (Le Fort, zygomatic, nasal)Fractures of the middle third of the facial skeleton: the maxillae, zygomatic bones, nasal bones, the orbits…
- Open fractureA fracture in which the bone or the fracture haematoma communicates with the outside through a break in the…
- OsteosarcomaA malignant primary bone tumour in which the cancer cells produce osteoid (immature bone). It usually arises…
- Pelvic fractureFracture of the bony pelvic ring (hip bones, sacrum, pubic symphysis and sacroiliac joints). Low-energy…
- Penetrating trauma (stab and gunshot wounds)Injury caused by an object that breaks the skin and enters the body, mainly stab wounds and gunshot wounds…
- Pilonidal diseaseAn acquired inflammatory disease of the skin and subcutaneous tissue of the natal cleft over the sacrum and…
- Postoperative ileusA transient loss of coordinated propulsive motility of the gastrointestinal tract after surgery, without…
- Pulmonary contusionBruising of the lung parenchyma after blunt chest trauma, with bleeding and oedema in the alveoli and…
- Renal traumaInjury to the kidney parenchyma, collecting system or renal vessels from blunt, penetrating or deceleration…
- Subclavian steal syndromeA narrowing or blockage of the subclavian artery before the origin of the vertebral artery makes blood flow…
- Superficial thrombophlebitis (superficial vein thrombosis)Thrombosis with inflammation of a superficial vein, most often the great or small saphenous vein or their…
- Surgical site infectionInfection of the incision, the deeper tissues or the organ or space handled during an operation, appearing…
- Thoracic aortic aneurysm and aortitisA localised permanent dilatation of the thoracic aorta to at least about 1.5 times its expected diameter. It…
- Thromboangiitis obliterans (Buerger disease)A non-atherosclerotic, segmental inflammatory disease of small and medium-sized arteries and veins of the…
- Traumatic diaphragmatic injuryA tear or laceration of the diaphragm caused by blunt or penetrating trauma. It is a marker of severe trauma…
- Wound dehiscence and eviscerationPartial or complete separation of the layers of a closed surgical wound, most important after midline…
Systemic conditions
- AnaphylaxisA severe, potentially life-threatening systemic hypersensitivity reaction that starts suddenly after…
- Arterial hypertensionPersistently raised blood pressure in the arteries. It is usually silent for years but is the main…
- Atherosclerosis and dyslipidaemiaAtherosclerosis is the slow build-up of fatty, inflamed plaques inside the walls of medium and large…
- Chagas diseaseA parasitic infection caused by Trypanosoma cruzi, mainly spread by triatomine bugs. After an often silent…
- ChikungunyaA viral illness caused by the chikungunya virus, spread by Aedes mosquitoes, with sudden high fever and…
- DengueAn acute viral infection caused by the four dengue virus serotypes and transmitted by Aedes mosquitoes. Most…
- GoutAn inflammatory arthritis caused by monosodium urate crystals depositing in and around joints when uric acid…
- HIV infection and AIDSA chronic infection by the human immunodeficiency virus, which destroys CD4 T lymphocytes; without treatment…
- Hypovolaemic shockA life-threatening state of poor tissue perfusion caused by loss of intravascular volume, from bleeding…
- Iron deficiency anaemiaAnaemia caused by too little iron to make haemoglobin, so red cells become small (microcytic) and pale…
- LeishmaniasisA group of diseases caused by Leishmania protozoa, transmitted by the bite of infected sandflies. It affects…
- LeptospirosisA zoonotic bacterial infection caused by Leptospira species, acquired through contact with water or soil…
- MalariaA parasitic infection by Plasmodium species, spread by the bite of infected female Anopheles mosquitoes…
- Metabolic syndromeA cluster of linked cardiometabolic risk factors (central obesity, high blood pressure, high fasting…
- ObesityA chronic disease of excess body fat that harms health, usually defined in adults by a body mass index (BMI)…
- OsteoporosisA skeletal disease of low bone mass and deteriorated bone microarchitecture that makes bones fragile, so…
- Rheumatoid arthritisA chronic autoimmune inflammatory arthritis that attacks the synovial lining of joints, usually small joints…
- Sepsis and septic shockLife-threatening organ dysfunction caused by a dysregulated host response to infection. Septic shock is the…
- SyphilisA sexually transmitted infection caused by Treponema pallidum that progresses through stages over years and…
- Systemic lupus erythematosusA chronic autoimmune disease in which autoantibodies and immune complexes inflame many organs, mainly skin…
- TuberculosisAn infection caused by Mycobacterium tuberculosis, spread through the air, that mainly affects the lungs but…
- Type 1 diabetes mellitusA chronic disease in which the immune system destroys the insulin-producing beta cells of the pancreas…
- Type 2 diabetes mellitusA chronic metabolic disease in which insulin resistance and a progressive failure of the pancreatic beta…
- Zika virus infectionA flavivirus infection spread mainly by Aedes mosquitoes, usually mild with rash and conjunctivitis, but…
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- Acute mastitisInflammation of the breast, usually during breastfeeding, that causes a painful, red, warm area and often…
- Breast abscessA localised collection of pus in the breast, usually as a complication of lactational mastitis or, outside…
- Breast cancerMalignant tumour arising from the epithelial cells of the breast's ducts or lobules. It is the most common…
- Breast fibroadenomaBenign tumour of the breast made of glandular (epithelial) and connective (stromal) tissue. It is the most…
- Fibrocystic breast changesVery common benign changes of the breast tissue, with lumpiness, cysts and pain that typically vary with the…
Upper limb
- Acromioclavicular joint separationInjury of the joint between the acromion and the outer end of the clavicle, from a sprain of its capsule and…
- Axillary nerve injuryDamage to the axillary nerve, the branch of the posterior cord of the brachial plexus that wraps around the…
- Biceps tendon ruptureTear of a tendon of the biceps brachii, either proximally at the shoulder (almost always the long head) or…
- Boxer fracture (fifth metacarpal neck)A fracture of the neck of the fifth metacarpal, just behind the knuckle of the little finger, typically from…
- Brachial plexus injuryDamage to the network of nerves formed by the C5–T1 roots that supplies the upper limb, usually from…
- Carpal tunnel syndromeCompression of the median nerve as it passes under the flexor retinaculum (transverse carpal ligament) at…
- Clavicle fractureBreak of the collarbone, one of the most common fractures at all ages, usually in its middle third. Most…
- Cubital tunnel syndrome (ulnar neuropathy at the elbow)Compression or irritation of the ulnar nerve at the elbow, behind the medial epicondyle and under the two…
- De Quervain tenosynovitisPainful narrowing of the tendon sheath of the first dorsal compartment of the wrist, which holds the…
- Distal radius fracture (Colles)A fracture of the distal radius, typically within a few centimetres of the wrist. In the Colles type, the…
- Dupuytren contractureA benign fibroproliferative disorder of the palmar fascia (palmar aponeurosis) in which nodules and cords…
- Elbow dislocationLoss of contact between the humerus and the ulna and radius at the elbow, nearly always with the forearm…
- Flexor tendon injuryPartial or complete division of the tendons that bend the fingers and thumb (flexor digitorum profundus…
- Frozen shoulder (adhesive capsulitis)Painful stiffening of the shoulder joint caused by inflammation and then fibrosis and contraction of the…
- Ganglion cystA benign, fluid-filled swelling arising from a joint capsule or tendon sheath, most often on the back of the…
- Humeral shaft fractureA fracture of the shaft (diaphysis) of the humerus, between the surgical neck and the area just above the…
- Lateral epicondylitis (tennis elbow)A painful tendinopathy of the common extensor origin at the lateral epicondyle of the humerus, mainly the…
- Mallet fingerLoss of active extension of the fingertip at the distal interphalangeal (DIP) joint caused by disruption of…
- Medial epicondylitis (golfer's elbow)A degenerative tendinopathy of the common flexor-pronator origin at the medial epicondyle of the humerus…
- Olecranon bursitisInflammation of the superficial bursa over the tip of the elbow, which fills with fluid and forms a soft…
- Proximal humerus fractureA break of the upper end of the humerus: the head, the anatomical or surgical neck, or the greater and…
- Radial head subluxation (pulled elbow)Partial slipping of the annular ligament over the head of the radius, so that the ligament becomes caught in…
- Raynaud phenomenonEpisodes of exaggerated narrowing of the small arteries of the fingers (and sometimes toes, ears or nose)…
- Rheumatoid arthritis of the hand and wristInvolvement of the hand and wrist by rheumatoid arthritis, a chronic autoimmune synovitis. It typically…
- Rotator cuff tearA partial or full-thickness tear of one or more rotator cuff tendons, most often the supraspinatus. It…
- Scaphoid fractureFracture of the scaphoid, the most commonly fractured carpal bone, usually from a fall on the outstretched…
- Shoulder dislocationLoss of contact between the humeral head and the glenoid of the scapula. The glenohumeral joint is the most…
- Subacromial impingement syndromeShoulder pain caused by compression and irritation of the rotator cuff tendons (mainly supraspinatus) and…
- Supracondylar humerus fractureFracture of the distal humerus just above the condyles, the most common elbow fracture in children. Most are…
- Thoracic outlet syndromeA group of disorders caused by compression of the brachial plexus, subclavian artery or subclavian vein as…
- Trigger fingerStenosing tenosynovitis in which a flexor tendon catches at a thickened A1 pulley at the base of the finger…
- Volkmann ischaemic contracturePermanent flexion deformity of the wrist and fingers caused by death and scarring of forearm muscles after…
- Winged scapulaAbnormal prominence of the medial border of the shoulder blade, which lifts off the chest wall, most often…
Vitamins and minerals
- Beriberi (thiamine deficiency)A thiamine deficiency disease with two main forms: dry (peripheral neuropathy) and wet (high-output heart…
- Hypervitaminosis A (vitamin A toxicity)Toxicity from accumulated preformed retinol or retinoids, acute (one large load) or chronic (excess over…
- Megaloblastic anaemia (B12 or folate deficiency)A macrocytic anaemia caused by defective DNA synthesis, almost always from vitamin B12 or folate deficiency…
- Menkes diseaseAn X-linked recessive disorder caused by ATP7A mutations that blocks copper export from enterocytes and its…
- Pellagra (niacin deficiency)A systemic disease of niacin deficiency (or of its precursor tryptophan) that hits the tissues with the…
- Pernicious anaemiaAutoimmune atrophic gastritis of the gastric body and fundus with loss of parietal cells and intrinsic…
- Rickets and osteomalaciaDefective mineralisation of bone matrix (osteoid). In children, with open growth plates, it is called…
- Scurvy (vitamin C deficiency)A disease of ascorbic acid deficiency in which collagen is made defective, leaving vessels, skin, gums and…
- Vitamin A deficiency (night blindness and xerophthalmia)A shortage of retinol that disturbs dim-light vision and the epithelia of the eye and body. It is the…
- Vitamin K deficiency bleeding of the newbornA bleeding disorder of newborns and young infants caused by deficiency of the vitamin K-dependent clotting…
- Wilson diseaseAn autosomal recessive copper transport disorder caused by ATP7B mutations that prevent copper excretion…
- Zinc deficiency (acrodermatitis enteropathica)An insufficient zinc state, acquired (diet, losses or malabsorption) or inherited (acrodermatitis…
Representative model, for educational purposes only.