List of abbreviations for diseases and disorders

Medical Abbreviations for Diseases and Disorders

This list includes medical abbreviations for various diseases and disorders, including those commonly encountered in healthcare settings. Each abbreviation is followed by its full form and a brief description.

• AAA - abdominal aortic aneurysm: a condition where the large blood vessel (aorta) that supplies blood to the abdomen, pelvis, and legs becomes abnormally large or balloons outward.
• AAS - androgenic anabolic steroids: synthetic derivatives of testosterone that can increase muscle mass and strength.
• ABCD syndrome - albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness syndrome: a rare condition characterized by a number of distinct physical symptoms.
• ABPA - allergic bronchopulmonary aspergillosis: a condition characterized by an allergic inflammatory response to the fungus aspergillus, affecting the lungs.
• ACC - adrenocortical carcinoma: a rare cancer of the adrenal cortex.
• ACS - acute coronary syndrome: an umbrella term for situations where the blood supplied to the heart muscle is suddenly blocked.
• ACTH deficiency - adrenocorticotropic hormone deficiency: a condition where the pituitary gland does not produce enough acth, affecting cortisol production and adrenal function.
• ACUG - acute uncomplicated gonorrhea: a sexually transmitted infection caused by the bacterium neisseria gonorrhoeae.
• ACVD - atherosclerotic cardiovascular disease: a condition in which the blood vessels become narrowed or blocked due to atherosclerosis.
• AD - alzheimer's disease: a progressive neurological disorder that causes brain cells to waste away and die.
• ADD - attention deficit disorder: a neurodevelopmental disorder characterized by a pattern of inattention and/or hyperactivity-impulsivity.
• ADD-RT - attention deficit disorder with retention: a subtype of add where individuals may need to repeat a year of schooling due to learning difficulties.
• ADEM - acute disseminated encephalomyelitis: a rare inflammatory condition that affects the brain and spinal cord.
• ADHD - attention deficit hyperactivity disorder: a neurodevelopmental disorder characterized by inattention, hyperactivity, and impulsivity.
• AERD - aspirin-exacerbated respiratory disease: a condition characterized by asthma, nasal polyps, and a sensitivity to aspirin.
• AF or A-fib - atrial fibrillation: an irregular and often very fast heart rate that can lead to blood clots in the heart.
• AGS - aicardi-goutières syndrome: a rare genetic disorder that mainly affects the brain, the immune system, and the skin.
• AIP - acute intermittent porphyria: a rare genetic disorder affecting the production of heme, leading to a build-up of porphyrins in the body.
• ALA DD - aminolevulinic acid dehydratase deficiency porphyria: an extremely rare inherited form of porphyria.
• ALD - adrenoleukodystrophy: a rare genetic disorder affecting the nervous system and the adrenal glands.
• ALI - acute lung injury: a severe condition of lung damage that develops as a result of acute hypoxemia and non-cardiogenic pulmonary edema.
• ALL - acute lymphoblastic leukemia: a type of cancer of the blood and bone marrow that affects white blood cells.
• ALS - amyotrophic lateral sclerosis: also known as lou gehrig's disease, a specific disease that causes the death of neurons controlling voluntary muscles.
• AMD - age-related macular degeneration: a medical condition which may result in blurred or no vision in the center of the visual field.
• AML - acute myeloid leukemia: a type of cancer of the blood and bone marrow with excess immature white blood cells.
• AN - anorexia nervosa: an eating disorder characterized by an abnormally low body weight, an intense fear of gaining weight, and a distorted perception of weight.
• AOCD - adult onset coeliac disease: celiac disease that manifests later in life.
• AODM - adult onset diabetes mellitus: type 2 diabetes, a chronic condition that affects the way the body processes blood sugar (glucose).
• AOS - adult onset still's disease: an inflammatory condition characterized by high fevers, rash, and joint pain.
• APA - antiphospholipid antibody: autoantibodies associated with antiphospholipid syndrome and increased risk of blood clots.
• APS - antiphospholipid syndrome: an autoimmune disorder characterized by recurrent blood clots and pregnancy-related complications.
• ARBD - alcohol-related birth defects: physical and mental birth defects associated with a mother's high alcohol consumption during pregnancy.
• ARD - acute respiratory disease: a broad range of infections that affect the respiratory system.
• ARDS - acute respiratory distress syndrome: a life-threatening lung condition that prevents enough oxygen from getting to the lungs and into the blood.
• ARM - anorectal malformation: a group of birth defects in which the rectum is malformed.
• ARND - alcohol-related neurodevelopmental disorder: a less severe form of fasd caused by alcohol exposure during pregnancy.
• AS - ankylosing spondylitis: a type of arthritis in which there is long-term inflammation of the joints of the spine.
• ASCVD - atherosclerotic cardiovascular disease: diseases caused by atherosclerosis, such as coronary artery disease and stroke.
• ASD - autism spectrum disorder: a developmental disorder characterized by difficulties with social interaction and communication, and by restricted and repetitive behavior.
• ASD(s) - atrial septal defect(s): a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum.
• ASHF - acute severe heart failure: a rapid onset of the symptoms of heart failure, such as shortness of breath, which may require emergency medical attention.
• ASS - argininosuccinic aciduria: an inherited disorder that causes elevated levels of argininosuccinic acid in the blood and urine.
• AVMs - arteriovenous malformations: defects in the vascular system characterized by tangles of abnormal blood vessels connecting arteries and veins.

B

• BA - bronchial asthma: a chronic inflammatory disease of the airways that causes episodes of wheezing, tightness in the chest, and coughing.
• BBS - bardet-biedl syndrome: a genetic disorder characterized by obesity, retinitis pigmentosa, polydactyly, and kidney abnormalities, among other symptoms.
• BD - bipolar disorder: a mental disorder marked by periods of elevated mood and periods of depression.
• BEB - benign essential blepharospasm: a condition causing involuntary blinking or eyelid twitching.
• BEH - benign enlargement of the hypophysis: non-cancerous enlargement of the pituitary gland.
• BH - braxton hicks contractions: irregular pre-labor contractions of the uterus.
• BL - burkitt lymphoma: a type of non-hodgkin's lymphoma characterized by rapid growth of malignant cells in the lymphatic system.
• BMD - becker muscular dystrophy: a less severe type of muscular dystrophy characterized by slowly progressive muscle weakness.
• BPAD - bipolar affective disorder: another term for bipolar disorder, which involves mood swings from manic highs to depressive lows.
• BPD - borderline personality disorder: a mental disorder characterized by unstable moods, behavior, and relationships.
• BPH - benign prostatic hyperplasia: enlargement of the prostate gland that can interfere with urinary function in men.
• BRBNS - blue rubber bleb nevus syndrome: a rare disorder characterized by malformations in the venous blood vessels, resulting in blue-tinted rubbery skin lesions.

C

• CA - cancer: a broad group of diseases involving unregulated cell growth leading to invasion of surrounding tissues and metastasis to distant sites.
• CACH - childhood ataxia with central nervous system hypomyelination: a neurological disorder characterized by progressive problems with movement.
• CAD - coronary artery disease: a disease characterized by the impairment of blood flow to the heart muscle due to build-up of plaque in the coronary arteries.
• CADASIL - cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a hereditary stroke disorder affecting the small blood vessels in the brain.
• CAP - community-acquired pneumonia: a lung infection contracted outside of hospital settings.
• CAPA - community-acquired pneumonia in adults: refers specifically to pneumonia in adults that is acquired outside of hospital settings.
• CAPD - continuous ambulatory peritoneal dialysis: a type of dialysis that cleans the blood of waste products which can build up when the kidneys are not functioning properly.
• CCD - cleidocranial dysplasia: a congenital disorder affecting the development of bones and teeth.
• CCHF - crimean-congo hemorrhagic fever: a viral hemorrhagic fever transmitted by ticks.
• CCHS - congenital central hypoventilation syndrome: a disorder affecting automatic control of breathing, primarily during sleep.
• CCM - cerebral cavernous malformations: abnormal blood vessels in the brain that can lead to hemorrhagic stroke.
• CDG - congenital disorders of glycosylation: a group of rare inherited metabolic disorders affecting glycosylation.
• CDGS - carbohydrate-deficient glycoprotein syndrome: a form of cdg characterized by defective glycoprotein biosynthesis.
• CDHF - chronic diastolic heart failure: heart failure due to problems with the filling of the heart with blood during the diastolic phase.
• CEP - congenital erythropoietic porphyria: a rare disorder characterized by sensitivity to sunlight and accumulation of porphyrins in the body.
• CESD - cholesteryl ester storage disease: a rare genetic lipid storage disorder.
• CF - cystic fibrosis: a genetic disorder affecting the exocrine glands, causing production of abnormally thick mucus, leading to blockage of the pancreatic ducts, intestines, and bronchi, and often resulting in respiratory infection.
• CFIDS - chronic fatigue and immune dysfunction syndrome: another term for chronic fatigue syndrome.
• CFS - chronic fatigue syndrome: a complex disorder characterized by extreme fatigue that cannot be explained by any underlying medical condition.
• CGBD - corticobasal ganglionic degeneration: a rare neurological disorder characterized by movement disorders and cognitive dysfunction.
• CH - congenital hypothyroidism: insufficient thyroid hormone production in newborn infants.
• CHARGE syndrome - A disorder that affects many areas of the body and is characterized by coloboma, heart defects, atresia of the choanae, growth retardation, genital abnormalities, and ear abnormalities.
• CHD - congenital heart disease: a range of birth defects that affect the normal workings of the heart.
• CHF - congestive heart failure: a chronic condition in which the heart doesn't pump blood as well as it should.
• CIDP - chronic inflammatory demyelinating polyneuropathy: a neurological disorder characterized by progressive weakness and impaired sensory function.
• CIP - congenital insensitivity to pain: a condition that inhibits the ability to perceive physical pain.
• CIPA - congenital insensitivity to pain with anhidrosis: a rare condition that prevents the sensation of pain and temperature.
• CJD - creutzfeldt-jakob disease: a rare, degenerative, invariably fatal brain disorder.
• CKD - chronic kidney disease: the slow loss of kidney function over time.
• CLOVES syndrome - congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/scoliosis: a rare disorder with vascular, skin, and spinal abnormalities.
• CML - chronic myeloid leukemia: a type of cancer that starts in certain blood-forming cells of the bone marrow.
• CMT disease - charcot-marie-tooth disease: a group of inherited disorders that cause nerve damage.
• CMT1A - charcot-marie-tooth disease type 1a: the most common inherited disorder affecting the peripheral nervous system.
• CMT1B - charcot-marie-tooth disease type 1b: a genetic disorder of the peripheral nervous system characterized by loss of muscle tissue and touch sensation.
• CMT1C - charcot-marie-tooth disease type 1c: a form of charcot-marie-tooth with specific genetic causes.
• CMT1D - charcot-marie-tooth disease type 1d: a subtype of the condition with certain distinct genetic mutations.
• CMT1E - charcot-marie-tooth disease type 1e: a variant of cmt that can also involve hearing loss.
• CMT1F - charcot-marie-tooth disease type 1f: a less common form of cmt, also caused by specific gene mutations.
• CMT1X - charcot-marie-tooth disease type x-linked: a form of cmt passed down through the x chromosome.
• CMT2 - charcot-marie-tooth disease type 2: a typically less severe form of cmt that is also genetically inherited.
• CMs - cavernous malformations: abnormal blood vessels in the brain or spinal cord that can lead to various neurological symptoms.
• COFS - cerebro-oculo-facio-skeletal syndrome: a disorder that affects the development of many parts of the body.
• COLD - chronic obstructive lung disease: another term for chronic obstructive pulmonary disease (copd).
• COPD - chronic obstructive pulmonary disease: a chronic inflammatory lung disease that causes obstructed airflow from the lungs.
• COVID-19 - coronavirus disease 2019: an infectious disease caused by the sars-cov-2 virus.
• CP - cerebral palsy: a group of disorders that affect a person's ability to move and maintain balance and posture.
• CP/CPPS - chronic prostatitis/chronic pelvic pain syndrome: a common syndrome of prostatitis with chronic pelvic pain.
• CPDD - calcium pyrophosphate deposition disease: a form of arthritis caused by the deposition of calcium pyrophosphate crystals.
• CPM - central pontine myelinolysis: a neurological disorder that affects the brain stem.
• CPPS - chronic pelvic pain syndrome: a condition associated with chronic pain in the pelvic region.
• CRE - carbapenem-resistant enterobacteriaceae: a family of germs that are difficult to treat because they have high levels of resistance to antibiotics.
• CRF - chronic renal failure: the progressive loss of kidney function.
• CRKP - carbapenem-resistant klebsiella pneumoniae: a multidrug-resistant organism associated with high morbidity and mortality.
• CRPS - complex regional pain syndrome: a form of chronic pain that usually affects an arm or a leg.
• CSA - central sleep apnea: a disorder that causes your breathing to repeatedly stop and start during sleep.
• CSD - cat scratch disease: an infection that can occur after a cat scratch or bite.
• CTE - chronic traumatic encephalopathy: a brain condition associated with repeated blows to the head.
• CTF - colorado tick fever: a viral infection transmitted by ticks.
• CVD - cardiovascular disease: a class of diseases that involve the heart or blood vessels.
• CWD - chronic wasting disease: a prion disease that affects deer, elk, reindeer, sika deer, and moose.

D

• DAS - dermatomyositis: an inflammatory disease marked by muscle weakness and a distinctive skin rash.
• DBA - diamond-blackfan anemia: a rare blood disorder that affects the bone marrow's ability to produce red blood cells.
• DBMD - duchenne muscular dystrophy: a severe type of muscular dystrophy that worsens quickly.
• DD - differential diagnosis: the process of differentiating between two or more conditions that share similar signs or symptoms.
• DEF - drug eruption: a skin reaction caused by a drug hypersensitivity.
• DF - dermatofibroma: a common benign skin nodule.
• DH - dermatitis herpetiformis: a chronic blistering skin condition, characterised by blisters filled with a watery fluid.
• DHF - dengue hemorrhagic fever: a severe form of dengue fever.
• DHPR - dihydropteridine reductase deficiency: a disorder affecting the metabolism of certain amino acids.
• DI - diabetes insipidus: a condition characterized by excessive thirst and excretion of large amounts of severely diluted urine.
• DID - dissociative identity disorder: a disorder characterized by the presence of two or more distinct personality states.
• DISH - diffuse idiopathic skeletal hyperostosis: a form of arthritis characterized by calcification along the sides of the vertebrae of the spine.
• DJD - degenerative joint disease: another term for osteoarthritis, a type of joint disease that results from breakdown of joint cartilage and underlying bone.
• DLB - dementia with lewy bodies: a type of progressive dementia that leads to a decline in thinking, reasoning and independent function because of abnormal microscopic deposits that damage brain cells over time.
• DM - diabetes mellitus: a group of diseases that result in too much sugar in the blood.
• DMD - duchenne muscular dystrophy: a severe type of muscular dystrophy.
• DP - depersonalization: a disorder characterized by persistent or recurrent feelings of depersonalization and/or derealization.
• DPT - diphtheria, pertussis, and tetanus vaccine: a combination vaccine that protects against three infectious diseases in humans.
• DRSP disease - drug-resistant streptococcus pneumoniae disease: infections caused by strains of streptococcus pneumoniae that are resistant to antibiotic treatment.
• DS - down syndrome: a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.

E

• ED - erectile dysfunction: the inability to get or keep an erection firm enough for sexual intercourse.
• EDS - ehlers-danlos syndromes: a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues.
• EEE - eastern equine encephalitis: a disease caused by the eastern equine encephalitis virus (eeev), which can cause inflammation of the brain.
• EHK - epidermolytic hyperkeratosis: a skin disorder characterized by blistering and a thickening of the stratum corneum.
• EMH - extramedullary hematopoiesis: the production of blood cells outside the bone marrow, typically in response to an abnormal condition.
• EMR - electronic medical record: a digital version of a patient's paper chart and medical history.
• ENS - empty nose syndrome: a condition characterized by nasal obstruction, crusting, and bleeding despite a physically wide nasal cavity.
• EPM - equine protozoal myeloencephalitis: a disease of horses that affects the brain and spinal cord caused by protozoa.
• EPP - erythropoietic protoporphyria: a form of porphyria, which affects the skin and sometimes the liver.
• ESRD - end-stage renal disease: the last stage of chronic kidney disease in which the kidneys no longer function well enough to meet the needs of daily life.
• ESS - endoscopic sinus surgery: a surgical procedure used to remove blockages in the sinuses.
• EVD - ebola virus disease: a severe, often fatal illness in humans caused by the ebola virus.

F

• FAE - fetal alcohol effects: a term used to describe the impact of alcohol consumption during pregnancy on the developing fetus, which does not meet the criteria for fetal alcohol syndrome.
• FAS - fetal alcohol syndrome: a condition resulting from alcohol exposure during the mother's pregnancy, causing brain damage and growth problems.
• FASDs - fetal alcohol spectrum disorders: a group of conditions that can occur in a person whose mother drank alcohol during pregnancy.
• FFI - fatal familial insomnia: a rare genetic degenerative brain disorder that leads to dementia and death.
• FMA - fibromyalgia: a disorder characterized by widespread musculoskeletal pain accompanied by fatigue, sleep, memory and mood issues.
• FMD - fibromuscular dysplasia: a condition that causes abnormal growth or development of cells in the walls of blood vessels that can cause narrowing (stenosis), aneurysms or tears (dissections).
• FMS - fibromyalgia syndrome: another term for fibromyalgia.
• FSP - familial spastic paraplegia: a group of inherited disorders that are characterized by progressive weakness and stiffness of the legs.
• FTD - frontotemporal dementia: a group of disorders caused by progressive cell degeneration in the brain's frontal lobes.
• FUO - fever of unknown origin: a fever of 101°f (38.3°c) or higher that lasts for more than three weeks without an obvious source after several tests and hospital visits.
• FVS - fetal valproate syndrome: a condition that can occur when a woman takes the medication sodium valproate during pregnancy.
• FXS - fragile x syndrome: a genetic condition causing intellectual disability, behavioral and learning challenges and various physical characteristics.
• Fx - fracture: a medical term for a broken bone.

G

• GAD - generalized anxiety disorder: a mental disorder characterized by excessive, uncontrollable and often irrational worry about events or activities.
• GAN - giant axonal neuropathy: a rare inherited genetic disorder that affects the peripheral and central nervous systems.
• GAS disease - group a streptococcal disease: an infection caused by bacteria known as streptococcus pyogenes.
• GAVE - gastric antral vascular ectasia: a medical condition in which the lining of the stomach bleeds, causing it to look like the stripes of a watermelon.
• GBS - guillain-barré syndrome: a rare neurological disorder in which the body's immune system mistakenly attacks part of its peripheral nervous system.
• GCE - granulomatous chronic encephalitis: a form of encephalitis that involves granulomatous inflammation.
• GD - gaucher's disease: a genetic disorder in which fatty substances accumulate in cells and certain organs.
• GERD - gastroesophageal reflux disease: a long-term condition where stomach contents come back up into the esophagus resulting in either symptoms or complications.
• GI - gastrointestinal: of or relating to the stomach and the intestines.
• GIB - gastrointestinal bleeding: all forms of bleeding in the gastrointestinal tract, from the mouth to the rectum.
• GN - glomerulonephritis: a term used to refer to several kidney diseases (usually affecting both kidneys).
• GORD - gastro-oesophageal reflux disease: another term for gastroesophageal reflux disease.
• GSS disease - gerstmann-sträussler-scheinker disease: a very rare, invariably fatal neurodegenerative disease that affects the brain.
• GT/LD - glucose tolerance/lactose digestion: a test to determine how quickly glucose is cleared from the blood, and a test to determine lactose digestion capability.

H

• H1N1 flu - h1n1 influenza: a respiratory illness caused by a strain of the influenza virus that started in pigs.
• HAS - hospital acquired sepsis: sepsis that is acquired during a hospital stay.
• HCP - hereditary coproporphyria: a disorder that affects the nervous system and skin.
• HD - huntington's disease: a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability.
• HDL2 - huntington's disease-like 2: a neurodegenerative disorder with clinical features similar to huntington disease.
• HELLP syndrome - hellp syndrome: a series of symptoms that indicate a severe form of preeclampsia in pregnant women.
• HF - heart failure: a chronic condition in which the heart does not pump blood as well as it should.
• HFA - high functioning autism: autism spectrum disorders that are on the higher functioning side.
• HFMD - hand, foot, and mouth disease: a common viral illness that usually affects infants and children younger than 5 years old.
• HFRS - hemorrhagic fever with renal syndrome: a group of clinically similar illnesses caused by hantaviruses from the family bunyaviridae.
• HI - hyperinsulinism: a condition in which there are excess levels of insulin circulating in the blood relative to the level of glucose.
• HIBM - hereditary inclusion body myopathy: a group of genetic disorders that mainly affect muscle tissue.
• HMSN Type III - hereditary motor and sensory neuropathy type iii: also known as dejerine-sottas disease, a neurological disorder that progressively affects mobility.
• HOH - hard of hearing: a term often used to describe individuals who have some hearing loss but can still use their hearing to communicate.
• HPRT deficiency - hypoxanthine-guanine phosphoribosyltransferase deficiency: a disorder that can vary in severity and symptoms.
• HPS - hermansky-pudlak syndrome: a rare autosomal recessive disorder which results in oculocutaneous albinism, bleeding disorders, and other symptoms.
• HPV Infection - human papillomavirus infection: an infection by human papillomavirus.
• HSP - henoch-schönlein purpura: a disease involving inflammation of small blood vessels.
• HTN - hypertension: also known as high blood pressure, a long-term medical condition in which the blood pressure in the arteries is persistently elevated.
• HeV Infection - hendra virus infection: a rare emerging zoonosis that causes severe and often fatal disease in both infected horses and humans.
• HiB disease - haemophilus influenzae type b disease: a bacterial infection that can cause several illnesses, prevented by the hib vaccine.

I

• IAPA - intra-abdominal pressure acute: a condition characterized by the build-up of pressure in the abdominal cavity.
• IBD - inflammatory bowel disease: a group of inflammatory conditions of the colon and small intestine.
• IBIDS syndrome - ichthyosis-brittle hair-impaired intelligence-decreased fertility-short stature syndrome: a rare inherited condition characterized by the presence of ichthyosis and associated symptoms.
• IBM - inclusion body myositis: a progressive muscle disorder characterized by muscle inflammation, weakness, and atrophy.
• IBS - irritable bowel syndrome: a group of symptoms—including abdominal pain and changes in the pattern of bowel movements without any evidence of underlying damage.
• IC/PBS - interstitial cystitis/painful bladder syndrome: a chronic condition characterized by a combination of uncomfortable bladder pressure, bladder pain and sometimes pelvic pain.
• ICF syndrome - immunodeficiency, centromeric instability, and facial anomalies syndrome: a rare immune disorder.
• ID - infectious diseases: diseases caused by pathogenic microorganisms, such as bacteria, viruses, parasites or fungi.
• IED - intermittent explosive disorder: a behavioral disorder characterized by explosive outbursts of anger and violence, often to the point of rage, that are disproportionate to the situation at hand.
• IFAP syndrome - ichthyosis follicularis, alopecia, and photophobia syndrome: a rare genetic syndrome characterized by hair loss, scaly skin, and light sensitivity.
• IHA - idiopathic hemolytic anemia: anemia resulting from red blood cell destruction without a known cause.
• INAD - infantile neuroaxonal dystrophy: a rare inherited neurological disorder.
• IP - interstitial pneumonia: a form of pneumonia that affects the interstitium of the lungs.

J

• JAS - juvenile ankylosing spondylitis: a type of arthritis that affects the spine and the sites where muscles, tendons, and ligaments attach to bones.
• JBS - jacobsen syndrome: a rare congenital disorder resulting from deletion of a part of chromosome 11.
• JE - japanese encephalitis: a viral infection that can lead to inflammation of the brain.
• JHD - juvenile huntington's disease: a form of huntington's disease that develops in children or adolescents.
• JMML - juvenile myelomonocytic leukemia: a rare type of blood cancer that affects young children.
• JODM - juvenile onset diabetes mellitus: a chronic condition characterized by high levels of sugar in the blood due to the body's inability to produce insulin.
• JPA - juvenile pilocytic astrocytoma: a childhood brain tumor.
• JRA - juvenile rheumatoid arthritis: the most common type of arthritis in children under the age of 16.
• JWS - jarcho-levin syndrome: a disorder characterized by malformations of the spine and ribs.

K

• KC - keratoconus: a progressive eye disease in which the normally round cornea thins and begins to bulge into a cone-like shape.
• KFD - kikuchi-fujimoto disease: a rare and benign condition that affects the lymph nodes and presents with fever.
• KS - kaposi's sarcoma: a type of cancer that can form masses in the skin, lymph nodes, or other organs.
• KSS - kearns-sayre syndrome: a rare neuromuscular disorder with onset before the age of 20 years.
• KTS - klippel-trenaunay syndrome: a syndrome that affects the development of blood vessels, soft tissues, and bones.
• KTW Syndrome - klippel-trenaunay-weber syndrome: another name for klippel-trenaunay syndrome, a condition characterized by port-wine stains, bone and soft tissue growth, and varicose veins.

L

• LCM - lymphocytic choriomeningitis: a viral infection that can cause fever, meningitis, encephalitis, or meningoencephalitis.
• LD - learning disabilities: neurologically-based processing problems that can interfere with learning basic skills such as reading, writing, or math.
• LEMS - lambert-eaton myasthenic syndrome: a rare autoimmune disorder that is characterized by muscle weakness of the limbs.
• LFA - lupus foundation of america: an organization that supports research, education, and advocacy for lupus.
• LGV - lymphogranuloma venereum: a sexually transmitted infection caused by three strains of the bacterium chlamydia trachomatis.
• LKS - landau-kleffner syndrome: a rare, childhood neurological syndrome characterized by the sudden or gradual development of aphasia and an abnormal electro-encephalogram.
• LNS - lesch-nyhan syndrome: a disorder that is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase.
• LP - lichen planus: a chronic inflammatory and immune mediated disease that affects the skin, nails, hair, and mucous membranes.
• LPR - laryngopharyngeal reflux: a condition in which stomach acid frequently flows back into the tube connecting your mouth and stomach (esophagus).
• LUHF - lujo hemorrhagic fever: a rare viral hemorrhagic fever that occurred in zambia and south africa in 2008.

M

• MAC - mycobacterium avium complex: a type of infection caused by bacteria that can cause symptoms like fever, weight loss, and diarrhea.
• MBD - metabolic bone disease: a broad term for various diseases that disrupt the normal metabolism of the bone.
• MCS - multiple chemical sensitivity: a disorder where people have allergic-like reactions to low levels of chemicals in the environment.
• MD - muscular dystrophy: a group of genetic diseases characterized by progressive weakness and degeneration of the muscles.
• MDD - major depressive disorder: a mental health condition marked by an overwhelming feeling of sadness, isolation, and despair.
• MDR TB - multidrug-resistant tuberculosis: a form of tuberculosis that is resistant to at least two of the most powerful first-line treatment anti-tb drugs.
• MDS - myelodysplastic syndromes: a group of disorders caused by poorly formed or dysfunctional blood cells.
• ME - myalgic encephalomyelitis: a chronic, complex, neuro-immune disease that causes severe fatigue and other symptoms.
• MERS - middle east respiratory syndrome: a viral respiratory illness caused by the mers-coronavirus (mers-cov).
• MFS - marfan syndrome: a genetic disorder that affects the body's connective tissue.
• MI - myocardial infarction: a blockage of blood flow to the heart muscle, commonly known as a heart attack.
• MID - multi-infarct dementia: a common cause of dementia in the elderly due to multiple small strokes.
• MIS - management information system: a system for managing data and information within an organization.
• MIS-A - multisystem inflammatory syndrome in adults: a condition where different body parts can become inflamed.
• MIS-C - multisystem inflammatory syndrome in children: a rare but severe condition associated with covid-19 that affects children and adolescents.
• MJD - machado-joseph disease: a rare hereditary ataxia that affects movement.
• ML - medial lemniscus: a structure in the brainstem that carries information about touch and proprioception.
• MLD - metachromatic leukodystrophy: a lysosomal storage disease that affects the nervous system.
• MMA - methylmalonic acidemia: a metabolic disorder in which the body cannot break down certain proteins and fats properly.
• MMR - measles, mumps, and rubella: a combined vaccine that protects against these three viral diseases.
• MMRV - measles, mumps, rubella, and varicella: a vaccine that protects against measles, mumps, rubella, and chickenpox.
• MND - motor neuron disease: a group of neurological disorders that selectively affect motor neurons.
• MODY - maturity onset diabetes of the young: a form of diabetes that is often inherited and typically develops before age 25.
• MOH - medication overuse headache: headache that occurs from overuse of pain relief medication.
• MPD - myeloproliferative disorder: a group of diseases of the bone marrow in which excess cells are produced.
• MPS I - mucopolysaccharidosis type I: a rare lysosomal storage disease caused by the deficiency of alpha-l-iduronidase.
• MPS II - mucopolysaccharidosis type ii: also known as hunter syndrome, a condition that affects many different parts of the body and is caused by the deficiency of the enzyme iduronate-2-sulfatase.
• MPS III - mucopolysaccharidosis type iii: also known as sanfilippo syndrome, a metabolic disorder characterized by the body's inability to break down long chains of sugar molecules called glycosaminoglycans.
• MPS IV - mucopolysaccharidosis type iv: also known as morquio syndrome, a condition that affects the skeleton and other organs.
• MPS VI - mucopolysaccharidosis type vi: also known as maroteaux-lamy syndrome, it involves a deficiency of the enzyme arylsulfatase b.
• MPS VII - mucopolysaccharidosis type vii: also known as sly syndrome, it is a rare genetic disorder that affects the body's ability to break down certain sugars.
• MPX - monkeypox: a rare viral disease that can occur in humans and other animals.
• MR/DD - mental retardation/developmental disabilities: outdated terms, now referred to as intellectual disability and developmental disabilities, indicating limitations in intellectual function and adaptive behavior.
• MS - multiple sclerosis: a disease in which the immune system eats away at the protective covering of nerves.
• MSA - multiple system atrophy: a progressive neurodegenerative disorder affecting movement, blood pressure, and other body functions.
• MSDD - mood swings/depressive disorder: refers to significant mood swings and potential depressive disorders, which should be assessed by a mental health professional.

N

• NAS - neonatal abstinence syndrome: a withdrawal syndrome that occurs in newborns exposed to certain substances, including opioids, while in the womb.
• NBIA - neurodegeneration with brain iron accumulation: a group of rare, genetic neurological disorders characterized by abnormal accumulation of iron in the brain.
• NCIP - novel coronavirus-infected pneumonia: now commonly known as covid-19, a highly infectious disease caused by the sars-cov-2 virus.
• NCL - neuronal ceroid lipofuscinosis: a group of progressive neurodegenerative disorders that mostly affect the pediatric population.
• NF1 - neurofibromatosis type 1: a genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas).
• NF2 - neurofibromatosis type 2: a genetic disorder characterized by the growth of noncancerous tumors in the nervous system.
• NKH - nonketotic hyperglycinemia: a genetic disorder characterized by an excess of glycine on the body.
• NLD - nonverbal learning disorder: a neurological disorder characterized by a significant discrepancy between higher verbal skills and weaker motor, visual-spatial, and social skills.
• NMDs - neuromuscular diseases: a broad term that encompasses many diseases and ailments that impair the functioning of the muscles.

O

• OA - osteoarthritis: a degenerative joint disease characterized by the breakdown of joint cartilage and underlying bone.
• OCD - obsessive-compulsive disorder: a common, chronic, and long-lasting disorder in which a person has uncontrollable, reoccurring thoughts and behaviors.
• ODD - oppositional defiant disorder: a behavior disorder defined by ongoing patterns of uncooperative, defiant, and hostile behavior toward authority figures.
• OHF - omsk hemorrhagic fever: a viral hemorrhagic fever caused by the omsk hemorrhagic fever virus.
• OMA - opsoclonus myoclonus ataxia syndrome: a rare neurological disorder that appears to be the result of an autoimmune process involving the nervous system.
• ON - optic neuritis: inflammation of the optic nerve that can cause a sudden reduction of vision in the affected eye.
• OPC - oropharyngeal candidiasis: a fungal infection found in the mouth and throat.
• OPCA - olivopontocerebellar atrophy: a term used for a range of disorders that cause degeneration in the cerebellum, the part of the brain that controls muscle coordination.
• OSA - obstructive sleep apnea: a potentially serious sleep disorder in which breathing repeatedly stops and starts during sleep.
• OSDD - other specified dissociative disorder: a diagnostic category for dissociative disorders that do not meet the criteria for a specific dissociative disorder.

P

• PBC - primary biliary cholangitis: a chronic disease that destroys bile ducts in the liver.
• PBD - peroxisomal biogenesis disorders: a group of conditions caused by the failure of the body to produce peroxisomes properly.
• PCOS - polycystic ovary syndrome: a hormonal disorder common among women of reproductive age.
• PCT - porphyria cutanea tarda: the most common type of porphyria, which causes blistering of the skin when affected areas are exposed to the sun.
• PD - parkinson's disease: a progressive nervous system disorder that affects movement.
• PDD - pervasive developmental disorder: now obsolete term that was formerly used to describe a group of disorders characterized by delays in the development of socialization and communication skills.
• PDD-NOS - pervasive developmental disorder-not otherwise specified: an outdated diagnostic term for individuals who do not fully meet the criteria for autism but show many of the symptoms.
• PDS - plummer's disease: another term for toxic multinodular goiter, a condition that involves an enlarged thyroid gland.
• PE - pulmonary embolism: a blockage in one of the pulmonary arteries in the lungs.
• PKAN - pantothenate kinase-associated neurodegeneration: a type of neurodegeneration with brain iron accumulation.
• PLMD - periodic limb movement disorder: a condition characterized by repetitive movements of the limbs during sleep.
• PLS - primary lateral sclerosis: a type of motor neuron disease that affects the voluntary muscles.
• PMD - pelizaeus-merzbacher disease: a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to various extents.
• PML - progressive multifocal leukoencephalopathy: a rare and usually fatal viral disease characterized by progressive damage or inflammation of the white matter of the brain.
• PMS - premenstrual syndrome: a group of symptoms that occur in women, typically between ovulation and a period.
• POTS - postural orthostatic tachycardia syndrome: a condition that affects circulation (blood flow) and involves the nervous system.
• PPMA - progressive muscular atrophy: a rare subtype of motor neuron disease that primarily affects the lower motor neurons.
• PPS - post-polio syndrome: a condition that affects polio survivors years after recovery from an initial acute attack of the poliomyelitis virus.
• PSC - primary sclerosing cholangitis: a disease of the bile ducts that causes inflammation and obstructive scar tissue.
• PSP - progressive supranuclear palsy: a brain disorder that causes serious problems with walking, balance, and eye movements.
• PTSD - post-traumatic stress disorder: a mental health condition that's triggered by a terrifying event — either experiencing it or witnessing it.
• PVL - periventricular leukomalacia: a type of brain injury that affects infants. The softer white tissue near the ventricles of the brain is damaged.

Q

• Q fever - q fever: a bacterial infection that can affect the lungs, liver, heart, and other parts of the body.
• QMS - quality management system: a system that outlines the processes and procedures necessary to provide medical services that meet patient and regulatory requirements.
• QPD - quantum per day: a term used in prescription to specify the daily amount of consumption or application.
• QPS - quantum per session: a term used in prescription to specify the amount of a drug to be administered per session.
• QTT - quantum totale: a term used in prescription to specify the total amount of a substance.

R

• RA - rheumatoid arthritis: a chronic inflammatory disorder affecting many joints, including those in the hands and feet.
• RAD - reactive airway disease: a term used to describe a condition that causes asthma-like symptoms.
• RIND - reversible ischemic neurologic deficit: a type of stroke where the symptoms resolve within 24 hours.
• RLF - retrolental fibroplasia: a disease of the eye affecting prematurely born babies.
• RLS - restless legs syndrome: a disorder that causes a strong urge to move one's legs.
• RMDs - rheumatic and musculoskeletal diseases: diseases that affect the joints, bones, and muscles.
• ROP - retinopathy of prematurity: a potentially blinding eye disorder that primarily affects premature infants.
• RS - respiratory syncytial virus: a common respiratory virus that usually causes mild, cold-like symptoms.
• RSD - reflex sympathetic dystrophy: now known as complex regional pain syndrome, a form of chronic pain that usually affects an arm or a leg.
• RTI - respiratory tract infection: an infectious disease of the upper or lower respiratory tract.
• RVF - rift valley fever: an acute, fever-causing viral disease most commonly observed in domesticated animals.
• Rickettsialpox - rickettsialpox: a disease caused by bacteria of the genus rickettsia.

S

• SADS - sudden arrhythmia death syndromes: a group of heart rhythm abnormalities that can lead to sudden death in young, otherwise healthy people.
• SARS - severe acute respiratory syndrome: an infectious condition that can cause serious respiratory illness or death.
• SB - spina bifida: a birth defect where there is incomplete closing of the backbone and membranes around the spinal cord.
• SBMD - stress bone marrow disorder: a condition related to bone marrow edema and stress injuries.
• SBS - shaken baby syndrome: a serious brain injury resulting from forcefully shaking an infant or toddler.
• SC - sickle cell disease: a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body.
• SD - sensory disorder: a condition where the sensory signals don’t get organized into appropriate responses.
• SDD - sterile dosage form disorder: a disorder related to the administration of medication in a sterile form.
• SDS - shwachman-diamond syndrome: a genetic disease affecting the bone marrow, pancreas and skeletal system.
• SHF - systolic heart failure: a condition in which the heart muscle cannot pump blood as well as it should.
• SIDS - sudden infant death syndrome: the unexplained death, usually during sleep, of a seemingly healthy baby less than a year old.
• SIRS - systemic inflammatory response syndrome: an inflammatory state affecting the whole body, often in response to infection.
• SIS - saline infusion sonohysterography: a technique to evaluate the uterus and the fallopian tubes.
• SJS - stevens-johnson syndrome: a rare, serious disorder of the skin and mucous membranes.
• SLE - systemic lupus erythematosus: an autoimmune disease in which the body's immune system mistakenly attacks healthy tissue.
• SLOS - smith-lemli-opitz syndrome: a developmental disorder that affects many parts of the body.
• SM - systemic mastocytosis: a condition caused by the accumulation of mast cells in body tissues.
• SMA - spinal muscular atrophy: a genetic disorder characterized by weakness and wasting in the voluntary muscles.
• SMD - sensorimotor disorder: a condition where sensory and motor signals don’t get organized into appropriate responses.
• SMEI - severe myoclonic epilepsy of infancy: a severe form of epilepsy that appears in early childhood.
• SMS - smith-magenis syndrome: a developmental disorder that affects many parts of the body.
• SOD - septo-optic dysplasia: a disorder of early brain and eye development.
• SPD - sensory processing disorder: a condition where the brain has trouble receiving and responding to information that comes in through the senses.
• SPS - stiff person syndrome: a rare neurological disorder with features of an autoimmune disease.
• SSPE - subacute sclerosing panencephalitis: a rare chronic, progressive encephalitis that affects primarily children and young adults.
• STD - sexually transmitted disease: infections that are passed from one person to another through sexual contact.
• STEMI - st-elevation myocardial infarction: a very serious type of heart attack during which one of the heart's major arteries is blocked.
• STI - sexually transmitted infection: infections that are passed from one person to another through sexual contact.
• SUNCT - short-lasting unilateral neuralgiform headache with conjunctival injection and tearing: a rare form of headache.
• SUNDS - sudden unexplained nocturnal death syndrome: a condition in which young adults die suddenly and unexpectedly during sleep.
• SWS - sturge-weber syndrome: a neurological disorder marked by a distinctive port-wine stain on the forehead, scalp, or around the eye.

T

• TAC - transient acalculous cholecystitis: a condition characterized by gallbladder inflammation without the presence of gallstones.
• TAO - thromboangiitis obliterans: a rare disease in which blood vessels of the hands and feet become blocked.
• TB - tuberculosis: a serious infectious disease that mainly affects the lungs.
• TBI - traumatic brain injury: a form of acquired brain injury that occurs when a sudden trauma causes damage to the brain.
• TCS - tethered cord syndrome: a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column.
• TEF - tracheoesophageal fistula: an abnormal connection (fistula) between the esophagus and the trachea.
• TIA - transient ischemic attack: often called a mini-stroke, a temporary period of symptoms similar to those of a stroke.
• TMH - typhoid mary hypothesis: a reference to asymptomatic carriers of pathogens.
• TMJ/TMD - temporomandibular joint disorders: a group of conditions that cause pain and dysfunction in the jaw joint and muscles that control jaw movement.
• TMR - transmyocardial revascularization: a procedure used to treat inoperable heart disease.
• TN - trigeminal neuralgia: a chronic pain condition that affects the trigeminal nerve in the face.
• TOS - thoracic outlet syndrome: a group of disorders that occur when blood vessels or nerves in the space between the collarbone and the first rib are compressed.
• TS - tourette syndrome: a nervous system disorder involving repetitive movements or unwanted sounds.
• TSC - tuberous sclerosis complex: a genetic disorder that causes non-malignant tumors to form in many different organs.
• TSEs - transmissible spongiform encephalopathies: a group of progressive conditions that affect the brain and nervous system of many animals, including humans.

U

• UC - ulcerative colitis: a chronic, inflammatory bowel disease that causes inflammation in the digestive tract.
• UCD - urea cycle disorders: a family of disorders caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle.
• UCPPS - urologic chronic pelvic pain syndrome: chronic pelvic pain and urinary symptoms affecting both men and women.
• UDA - unilateral demineralization of the arm: a condition characterized by loss of bone density in one arm.
• UFS - unexplained fertility syndrome: a term used when no cause of infertility can be found in both the woman and the man.
• URI - upper respiratory infection: an infection that affects the nasal passages and throat.
• UTI - urinary tract infection: an infection in any part of the urinary system, the kidneys, bladder, or urethra.

V

• VACTERL-H - vacterl association with hydrocephalus: a non-random association of birth defects that co-occur more frequently than by chance alone.
• VAED - vaccine-associated enhanced disease: increased severity of disease occurring due to a previous vaccination.
• VCFS - velo-cardio-facial syndrome: a genetic disorder characterized by a combination of medical problems that vary from child to child, including cleft palate, heart defects, and facial features.
• VD - venereal disease: another term for sexually transmitted diseases (stds).
• VHF - viral hemorrhagic fever: a group of illnesses caused by several distinct families of viruses.
• VHL - von hippel-lindau disease: a genetic disorder characterized by the formation of tumors and fluid-filled sacs in multiple organs.
• VKC - vernal keratoconjunctivitis: a recurrent, bilateral, and self-limiting inflammation of the conjunctiva, having a periodic seasonal incidence.
• VKH - vogt-koyanagi-harada disease: a multisystem disease of presumed autoimmune cause that affects pigmented tissues, which have melanin.
• VOD - veno-occlusive disease: a condition in which some of the veins in the liver are obstructed.
• VP - ventricular premature beat: a condition in which the ventricle contracts prematurely due to an ectopic focus within the ventricle.
• VSD - ventricular septal defect: a hole in the heart's septum that separates the two lower chambers (ventricles).
• VVC - vulvovaginal candidiasis: also known as a vaginal yeast infection.
• VWD - von willebrand disease: a bleeding disorder caused by low levels of clotting protein in the blood.
• VWM disease - vanishing white matter disease: a progressive disorder that mainly affects the brain and spinal cord (central nervous system).

W

• WAGR syndrome - wagr syndrome: a disorder that affects many body systems and is named for its main features: wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays.
• WD - wilson's disease: an inherited disorder that causes too much copper to accumulate in the organs.
• WEE - western equine encephalitis: a disease caused by a virus transmitted by mosquitoes, which can cause inflammation of the brain (encephalitis).
• WS - williams syndrome: a developmental disorder that affects many parts of the body, characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.
• WS4 - waardenburg syndrome type 4: a rare genetic disorder characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies.

X

• X-ALD - x-linked adrenoleukodystrophy: a genetic disorder affecting the nervous system and adrenal glands.
• X-CALD - cerebral adrenoleukodystrophy: the most severe form of adrenoleukodystrophy, affecting the brain.
• XDH and AOX dual deficiency - A rare biochemical condition affecting purine metabolism.
• XDH deficiency - xanthine dehydrogenase deficiency: a condition affecting the enzyme involved in purine degradation.
• XDP - x-linked dystonia-parkinsonism: a movement disorder originating in the philippines.
• XDR TB - extensively drug-resistant tuberculosis: a type of tuberculosis resistant to almost all available drugs.
• XHED - x-linked hypohidrotic ectodermal dysplasia: a condition affecting the development of multiple parts of the body.
• XLMTM - x-linked myotubular myopathy: a condition affecting muscle function.
• XLOS - x-linked opitz g/bbb syndrome: a genetic condition characterized by a range of midline defects.
• XLP syndrome - x-linked lymphoproliferative syndrome: an immune disorder where the body can't properly regulate the number of immune system cells.
• XLSA - x-linked sideroblastic anemia: a disorder of the blood characterized by the presence of ringed sideroblasts.
• XMEA - x-linked myopathy with excessive autophagy: a muscle disorder marked by muscle wasting.
• XMEN - x-linked immunodeficiency with magnesium defect: an immune disorder with abnormal magnesium metabolism.
• XP - xeroderma pigmentosum: a condition characterized by extreme sensitivity to ultraviolet light.
• XSCID - x-linked severe combined immunodeficiency: a genetic disorder that disrupts the development of functional immune cells.
• XXX syndrome - triple x syndrome: a chromosomal abnormality affecting females.

Y

• YF - yellow fever: a viral hemorrhagic disease spread by mosquitoes.
• YNS - yellow nail syndrome: a rare condition characterized by yellow nails, lymphedema, and respiratory problems.
• YSS - yunis-varon syndrome: a rare genetic disorder that affects several body systems.
• YVS - yellow fever vaccine-associated viscerotropic disease: a rare adverse reaction to yellow fever vaccination.
• YY syndrome - yy syndrome: a chromosomal abnormality affecting males, also known as xyy syndrome.

Z

• ZAP-70 deficiency - zeta-chain-associated protein kinase 70 deficiency: an immune disorder due to a specific protein kinase deficiency.
• ZBLS - zellweger spectrum disorder: a group of rare genetic disorders characterized by the reduction or absence of peroxisomes in the cells of the liver, kidneys, and brain.
• ZES - zollinger-ellison syndrome: a condition where one or more tumors form in the pancreas or duodenum, causing stomach acid overproduction.
• ZLS - zellweger-like syndrome: a term sometimes used to describe disorders similar to zellweger syndrome.
• ZS - zellweger syndrome: the most severe form of peroxisomal biogenesis disorder.
• ZSD - zellweger spectrum disorders: disorders caused by the impairment of peroxisomes.
• ZSS - zellweger syndrome spectrum: disorders that are part of the zellweger spectrum.
• ZTTK syndrome - zhu-tokita-takenouchi-kim syndrome: a rare genetic disorder characterized by developmental delay and other congenital abnormalities.
• vCJD - variant creutzfeldt-jakob disease: a human form of mad cow disease.