Term
| Abdominal pain, ascites, hepatomegaly WITHOUT JVD... |
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Definition
| Bud-Chiari Syndrome (post-hepatic venous thrombosis) |
|
|
Term
| Achilles tendon xanthoma... |
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Definition
| Familial hypercholesterolemia (high LDL) |
|
|
Term
| Adrenal hemorrhage, hypOtension, DIC... |
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Definition
| Waterhouse-Friedrichsen Syndrome (neisserial sepsis) |
|
|
Term
| Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints... |
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Definition
| Marfan's Syndrome (Fibrillin defect) |
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|
Term
| Back pain,, fever, night sweats, weight loss... |
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Definition
| Pott's Dz (vertebral tuberculosis) |
|
|
Term
| Big toe extension/fanninf upon plantar scrape... |
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Definition
| Babinski's sign (UMN lesion)...spastic paralysis |
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|
Term
| Bilareral hilar adenopathy, uveitis... |
|
Definition
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|
Term
|
Definition
| Osteogenesis Imperfecta (Collagen I defect) |
|
|
Term
| Bluish lines of gingiva... |
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Definition
| Burton's Line (lead poisoning) |
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|
Term
| Bone pain, bone enlargement, arthritis, fractures, inc hat size, very increased alkaline phosphatase... |
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Definition
| Paget's dz (increase osteoclast and osteoblast activity |
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Term
| Cafe au lait spots, lisch nodules (brown dots on eye)... |
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Definition
| Neurofibromatosis Type I, McCune-Albright Syndrome (+bilateral acoustic neuromas=Type II NF) |
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|
Term
| Calf pseudohypertrophy... |
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Definition
| Muscular Dystrophy (most often Duchenne's) |
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|
Term
| "cheryy-red spot" on macula... |
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Definition
| Tay-Sachs (ganglioside accumulation) and Niemann Pick (lysosomal storage dz). Also Central Retinal Artery occlusion |
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|
Term
| Chest pain, pericardial effusion/friction rub, persistant fever following MI... |
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Definition
| Dressler's Syndrome (autoimmune mediated post-MI fibrinous pericarditis) |
|
|
Term
| Child uses arms to stand up from squat... |
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Definition
| Gower's sign (Duchenne Muscular Dystrophy; X-linked recessive deleted dystrophin gene) |
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Term
| Chorea, Crazy (dementia), Caudate |
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Definition
| Huntington's Dz (Autosomal Dominant CAG-repeat expansion, Chrom 4) |
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|
Term
| Chronic exercise intolerance with myalgia, fatique, painful cramps... |
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Definition
| McArdle's Dz (muscle phosphorylase deficiency) |
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|
Term
| Conjugate lateral gaze palsy, horizontal diplopia... |
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Definition
| Intranuclear Opthalmoplegia (Damage to MLF...bilateral and young think MS, unilateral and old think stroke) |
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|
Term
| Cutaneous/dermal edema due to connective tissue deposition... |
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Definition
| Myxedema (hypothyroidism, Graves') |
|
|
Term
| Deep/labored breathing/hyperventilation... |
|
Definition
| Kussmaul breathing (diabetic ketoacidosis) |
|
|
Term
| Dematitis, dementia, diarrhea... |
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Definition
| Pellagra (B3/niacin deficiency) |
|
|
Term
| Dilated cardiomyopathy, edema, polyneuropathy... |
|
Definition
| Wet beriberi (B1/thiamine deficiency) |
|
|
Term
| Dog or cat bite resulting in an infection... |
|
Definition
|
|
Term
| Dry eyes, dry mouth, arthritis... |
|
Definition
| Sjogren's syndrome (autoimmune destruction of exocrine glands) |
|
|
Term
| Dysphagia (esophageal webs), glossitis, iron deficiency anemia... |
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Definition
| Plummer-Vinson Syndrome (may progress to esophageal squamous cell carcinoma) |
|
|
Term
| Elastic skin, hypermobility of joints... |
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Definition
| Ehlers-Danlos syndrome (Type III collagen defect) |
|
|
Term
| Enlarged, hard left supraclavicular node... |
|
Definition
| Virchow's Node (abdominal metastasis, visceral malignancy) |
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|
Term
| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells... |
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Definition
| Sezary Syndrome (cutaneous T cell lymphoma) or mycosis fungoides |
|
|
Term
| Facial muscle spasms upon tapping... |
|
Definition
| Chvostek's sign (hypOcalcemia) |
|
|
Term
| Fat, female, forty, and fertile (and Native American)... |
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Definition
| cholelithiasis (--> acute cholecystitis--bile duct blockage) |
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|
Term
| Fever, chills, headache, myalgia followinf antibiotic tx for syphilis... |
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Definition
| Jarisch-Herxheimer rxn (rapid lysis of spirochetes results in toxin release) |
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|
Term
| Fever, cough, conjunctivitis, coryza, diffuse rash... |
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Definition
|
|
Term
| Fever, night sweats, weight loss... |
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Definition
| B (lymphoma) symptoms or TB |
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|
Term
| Fibrous plaques on soft tissue of penis... |
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Definition
| Peyronie's dz (connective tissue d/o) |
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|
Term
| Gout, MR, self-mutilation in boy... |
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Definition
| Lesch-Nyhan syndrome (HGPRT deficiency) |
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|
Term
| Green-yellow rings around peripheral cornea... |
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Definition
| Kayser-Fleischer rings (copper accumulation in Wilson's dz) |
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|
Term
| Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands... |
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Definition
| Peutz-Jegher's syndrome (genetic benign polyposis can cause bowel obstruction, incr cancer risk although they are NOT precancerous) |
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|
Term
| Hepatosplenomegaly, osteoporosis, neurologic symptoms... |
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Definition
| Gaucher's Dz (glucocerebrosidase deficiency, crinkled tissue paper cytoplasm) |
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|
Term
| Hereditary nephritis, sensorineural hearing loss, cataracts... |
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Definition
| Alport's Syndrome (collagen mutation)... "can't see, can't pee, can't hear" |
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|
Term
| Hypercoagulability leading to migrating DVTs and vasculitis, migrating thrombophlebitis... |
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Definition
| Trousseau's sign (adenocarcinoma or the pancreas or lungs) |
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|
Term
| Hypertension, hypOkalemia, metabolic ALKALOSIS... |
|
Definition
| Conn's Syndrome (primary hyperaldosteronism) |
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|
Term
| Hypoxemia, polycythemia, hypercapnia... |
|
Definition
| "blue bloater" (chronic bronchitis; hyperplasia of mucous cells) |
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|
Term
| Indurated, nonpainful ulcerated genital lesion... |
|
Definition
| chancre (primary syphilis) |
|
|
Term
| Infant with failure to thrive, hepatosplenomegaly, neurodegeneration... |
|
Definition
| Niemann-Pick Dz (genetic sphingomyelinase deficiency), cherry red spot on macula |
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|
Term
| Infant w/ hypOglycemia, failure to thrive, and hepatomegaly... |
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Definition
1. Cori's Dz (debranching enzyme deficiency, absence of glycogen lysis)
2. Von Gierke's Dz |
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|
Term
| Infant w/ microcephaly, rocker-bottom feet, and structural heart defect... |
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Definition
| Edward's Syndrome (trisomy 18) |
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|
Term
| Jaundice, RUQ pain, fever... |
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Definition
| Charcot's Triad of Ascending Cholangitis |
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|
Term
| Keratin pearls on skin lesion... |
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Definition
|
|
Term
| Lucid interval after traumatic brain injury... |
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Definition
| Epidural hematoma (Middle Meningeal A) |
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|
Term
| Male child, recurrent infxns, no mature B cells... |
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Definition
| Bruton's Dz (X-linked agammaglobulinemia) |
|
|
Term
| Mucosal bleeding and prolonged bleeding time... |
|
Definition
| Glanzmann's thrombasthenia (defect in platelet AGGREGATION due to lack of Gp11b/IIIa |
|
|
Term
| Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth... |
|
Definition
| Gardner's Syndrome (genetic d/o, predisposes to colon cancer)...like garden, things growing everywhere |
|
|
Term
| Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis |
|
Definition
| Wegener's (also upper airway) and Goodpasture's syndromes (hemoptysis and glomerular dz) |
|
|
Term
| Neonate w/ arm paralysis following difficult birth... |
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Definition
| Erb-Duchenne Palsy (superior trunk of brachial plexus C5-C6, "waiter's tip"), often accompanies clavicle fracture |
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|
Term
| No lactation post-partum, absent menstruation, cold intolerance... |
|
Definition
| Sheehan's Syndrome (pituitary infarction)...postpartum hemorrhage causes hypOperfusion which causes infarction |
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|
Term
| Nystagmus, intention tremor, scanning speech... |
|
Definition
| Charcot's Triad of Multiple Sclerosis |
|
|
Term
| Oscillating slow/fast breathing... |
|
Definition
| Cheyne-stokes respirations (central apnea in CHF or increased ICP) |
|
|
Term
| Painful blue fingers/toes, hemolytic anemia... |
|
Definition
| Cold agglutinin dz (IgM)...autoimmune hemolytic anemia cause by mycoplasma, infectious mono, etc |
|
|
Term
| Painful, pale, cold fingers/toes... |
|
Definition
| Reynaud's Syndrome (vasospasm in extremity)...think Berger's if in males |
|
|
Term
| Painful, raised lesions on palms and soles (finger pads)... |
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Definition
| Osler's nodes (infectious endocarditis)... Sir Osler= famous surgeon palpation |
|
|
Term
|
Definition
| Cancer of the pancreatic head obstructing the bile duct |
|
|
Term
| Lower extremity palpable purpura, joint pains, abdominal pain (child)... |
|
Definition
| Henoch-Schonlein Purpura (IgA vasculitis affecting skin and kidneys) |
|
|
Term
| Pancreatic, pituitary, parathyroid tumors... |
|
Definition
|
|
Term
| Pink complexion, dyspnea, hyperventilation... |
|
Definition
| "Pink puffer" Emphysema: centroacinar=smoking, panacinar=alpha-antitrypsin deficiency |
|
|
Term
| Polyostic fibrous dysplasia, precocious puberty, cafe au lait spots, short stature in young girl... |
|
Definition
| McCune Albright syndrome (mosaic G protein signaling mutation) |
|
|
Term
| Polyuria, acidosis, growth failure, electrolyte imbalances... |
|
Definition
| Fanconi's Syndrome (proximal tubule reabsorption defect) |
|
|
Term
| Ptosis, miosis, anhidrosis... |
|
Definition
| Horner's Syndrome (Sympathetic chain lesion) ... ie. Pancoast Tumor |
|
|
Term
| Pupil accomodates but doesn't react to light... |
|
Definition
| Argyll Robertson pupil (neurosyphilis) |
|
|
Term
| Rapidly progressive leg weakness that ASCENDS (following GI/Upper Respiratory Infxn)...NO sensory loss!!... |
|
Definition
| Guillan-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy) |
|
|
Term
| Rash on palms and soles... |
|
Definition
| Secondary Syphilis, Rocky Mtn Spotted Fever, Coxsackie A |
|
|
Term
| Recurrent colds, unusual/trunk eczema, high serum IgE... |
|
Definition
| Job's Syndrome (Hyper IgE Syndrome, neutrophil chemotaxis abnormality) |
|
|
Term
| Red "courant jelly" sputum... |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Red, itchy, swollen rash of nipple/areola... |
|
Definition
| Paget's Dz of the breast (represents underlying neoplasm) |
|
|
Term
| Red urine in the morning... |
|
Definition
| Paroxysmal nocturnal hematuria (absence of CD55, CD59...defective DAF in complement cascade) |
|
|
Term
| Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma... |
|
Definition
| von Hippel Lindau dz (dominant tumor suppressor gene mutation) |
|
|
Term
| Resting tremor, rigidity, akinesia, postural instabilty... |
|
Definition
| Parkinson's Dz (nigrostriatal dopamine depletion) |
|
|
Term
| Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance... |
|
Definition
| Pompe's Dz (lysosomal glucosidase deficiency) |
|
|
Term
| Retinal hemorrhages with pale centers... |
|
Definition
| Roth spots (bacterial endocarditis)...results f/ small fibrin clots that break off f/ vegetations |
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|
Term
| Severe jaundice in neonates... |
|
Definition
| Crigler-Najjir syndrome (congenital unconjugated hyperbilirubinemia) |
|
|
Term
| Severe RLQ pain w/ rebound tenderness... |
|
Definition
| McBurney's sign = Appendicitis (starts around umbilicus and migrates to McBurney's pt) |
|
|
Term
| Short stature, incr incidence of tumors/leukemia, aplastic anemia... |
|
Definition
| Fanconi's anemia (genetically inherited, often progresses to AML) |
|
|
Term
|
Definition
| Simian crease (Down Syndrome) |
|
|
Term
| Situs Inversus, chronic sinusitis, bronchiectasis, infertility... |
|
Definition
| Kartagener's Syndrome (dynein defect affecting cilia) |
|
|
Term
| Skin hyperpigmentation... |
|
Definition
| Addison's Dz (primary adrenocortical insufficiency of autoimmune or infectious etiology)...decreased cortisol, incr ACTH (incr POMC, MSH) |
|
|
Term
| Slow, progressive muscle weakness in boys... |
|
Definition
| Becker's muscular dystrophy (x-linked, defective dystrophin; less severe than Duchenne's) |
|
|
Term
| Small, irregular red spots on buccal/lingual mucosa w/ blue-white centers... |
|
Definition
| Koplik spots (Measles...cough coryza conjunctivitis coplik) |
|
|
Term
| Small, nontender, erythematous lesions on palms/soles... |
|
Definition
| Janeway lesions (infective endocarditis) |
|
|
Term
| Smooth, flat, moist white lesions on genitals... |
|
Definition
| Condylomata lata (secondary syphilis) |
|
|
Term
| Splinter hemorrhages in fingernails... |
|
Definition
|
|
Term
|
Definition
| Scarlet Fever, Kawasaki Dz, Toxic Shock Syndrome |
|
|
Term
| Streak ovaries, congenital heart dz, horseshoe kidney, coarctation of the aorta... |
|
Definition
| Turner's Syndrome (XO, short stature, webbed neck, lymphedema) |
|
|
Term
| Sudden swollen/painful big toe joint, tophi... |
|
Definition
| gout/podagra (hyperuricemia--aggregates of urate crystals) |
|
|
Term
| Swollen gums, mucous bleeding, poor wound healing, spots on skin... |
|
Definition
| Scurvy (vitamin C deficiency; can't hydroxylate proline/lysine for collagen synthesis |
|
|
Term
| Swollen, hard, painful finger joints... |
|
Definition
| osteoarthritis (osteophytes on PIP-Bouchards and DIP-Heberdens) |
|
|
Term
| Systolic ejection murmur (crescendo-decrescendo)... |
|
Definition
|
|
Term
| Thuroid, Parathyroid, and adrenal tumors... |
|
Definition
| MEN 2a (medullary thyroid, parathyroid, and pheochromocytoma) |
|
|
Term
| Ulcerated genital lesion with exudate (painful)... |
|
Definition
| Chancroid (Haemophilus ducreyi) |
|
|
Term
| Unilateral facial drooping... |
|
Definition
| Bell's Palsy (LMN CN VII palsy)....full side, as opposed to just lower as seen in stroke |
|
|
Term
| Urethritis, conjunctivitis, arthritis in a male... |
|
Definition
| Reiter's syndrome (reactive arthritis associated w/ HLA-B27) |
|
|
Term
| Vascular birthmark (port-wine stain)... |
|
Definition
| Hemangioma (benign, but associated w/ Sturge-Weber syndrome)...opthalamic distribution of trigeminal, does not regress like a strawberry nevus |
|
|
Term
| Vasculitis from exposure to endotoxin causing glomerular thrombosis... |
|
Definition
| Shwartzman rxn (follwoing 2nd exposure to endotoxin) |
|
|
Term
| Vomiting blood following esophogastric lacerations... |
|
Definition
| Mallory-Weiss syndrome (alcoholics and eating d/o's) |
|
|
Term
| "Waxy" casts w/ very low urine flow... |
|
Definition
| chronic end stage renal dz |
|
|
Term
|
Definition
|
|
Term
| Weight loss, diarrhea, arthritis, fever, adenopathy... |
|
Definition
| Whipple's Dz (Trophyrema whippelii) |
|
|
Term
| "Worst headache of my life"... |
|
Definition
| Berry aneurysm--> subarachnoid hemorrhage....associated w/ polycystic kidney dz |
|
|
Term
| Port wine stain in the ophthalmic division of trigeminal... |
|
Definition
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|
