Term
| Abdominal pain, ascites, hepatomegaly |
|
Definition
| Budd-Chiari syndrome (poslhepalic venous Ihrombosis) |
|
|
Term
| Adrenal hemorrhage, hypotension, DIC |
|
Definition
| Waterhouse-Friderichsen syndrome (meningococcemia) |
|
|
Term
| Arachnodactyly, lens dislocation, aortic dissection, hyperflextble joinls |
|
Definition
| Marfan's syndrome (fibrillin defect) |
|
|
Term
| Back pain, fever, night sweats, weight loss |
|
Definition
| Poll's disease (vertebral tuberculosis) |
|
|
Term
| Big toe extension/fanning upon plantar scrape |
|
Definition
| Baibinski's sign (UMN lesion) |
|
|
Term
| Bilateral hilar adenopathy, uveitis |
|
Definition
| Sarcoidosis (noncaseating granulomas) |
|
|
Term
|
Definition
| Osteogenesis imperfecta (collagen defect) |
|
|
Term
|
Definition
| Burton's line (lead poisoning) |
|
|
Term
| Bone pain, bone enlargement, arthritis |
|
Definition
| Paget's disease of bone (increased osteoblastic and osteoclastic activity) |
|
|
Term
| Cafe-au-lait spots, Lisch nodules (iris hamartoma) |
|
Definition
| Neurofibromatosis type 1 (+ bilateral acoustic neuromas = type II |
|
|
Term
|
Definition
| Muscular dystrophy (mosl commonly Duchenne's) |
|
|
Term
| "Cherry-red spol" on macula |
|
Definition
| Tay-Sachs (ganglioside accumulalion) or Niemann-Pick (lysosomal slorage disease) |
|
|
Term
| Chest pain, pericardial effusion/friction rub, persistent fever following Ml |
|
Definition
| Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis) |
|
|
Term
| Child uses arms lo stand up from squat |
|
Definition
| Cowers' sign (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene) |
|
|
Term
| Child wilh fever develops red rash on face that spreads to body |
|
Definition
| "Slapped cheeks" (erythema infectiosum/fiflh disease: parvovirus B19) |
|
|
Term
| Chorea, demenlia, caudate degeneralion |
|
Definition
| Hunlinglon's disease (aulosomal-dominant CAG repeal expansion) |
|
|
Term
| Chronic exercise inlolerance wilh myalgia, fatigue, painful cramps |
|
Definition
| McArdle's disease (muscle phosphorylase deliciency) |
|
|
Term
|
Definition
|
|
Term
| Conjugate lateral gaze palsy, horizontal diplopia |
|
Definition
| Internuclear ophthalmoplegia (damage lo MLF; bilateral Imulliple sclerosis], unilateral [stroke]) |
|
|
Term
| Continuous "machinery" heart murmur |
|
Definition
| PDA (close wilh indomelhacin; open with misoprostol) |
|
|
Term
| Cutaneous/dermal edema due to conneclive lissue deposition |
|
Definition
| Myxedema (hypothyroidism, Graves' disease) |
|
|
Term
| Dark purple skin/mouth nodules |
|
Definition
| Kaposi's sarcoma (usually AIDS patients [gay men): associated with HHV-8) |
|
|
Term
| Deep, labored brealhing/hyperventilation |
|
Definition
| Kussmaul breathing (diabetic ketoacidosis) |
|
|
Term
| Dermatitis, dementia, diarrhea |
|
Definition
| Pellagra (niacin [vitamin BJ deficiency) |
|
|
Term
| Dilated cardiomyopathy, edema, polyneuropathy |
|
Definition
| Wet beriberi (thiamine [vitamin B,] deficiency) |
|
|
Term
| Dog or cat bile resulting in infection |
|
Definition
|
|
Term
| Dry eyes, dry mouth, arlhrilis |
|
Definition
| Sjogren's syndrome (auloimmune destruction of exocrine glands) |
|
|
Term
|
Definition
| Familial hypercholesterolemia |
|
|
Term
| Dysphagia (esophageal webs), glossitis, iron deficiency anemia |
|
Definition
| Plummer-Vinson syndrome (may progress lo esophageal squamous cell cardnoma) |
|
|
Term
| Elastic skin, hypermobility of joints |
|
Definition
| Ehlers-Danlos syndrome (collagen defect) |
|
|
Term
| Enlarged, hard left supraclavicular node |
|
Definition
| Virchow's node (abdominal metastasis) |
|
|
Term
| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells |
|
Definition
| S^zary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides |
|
|
Term
| Facial muscle spasm upon tapping |
|
Definition
| Chvoslek's sign (hypocalcemia) |
|
|
Term
| Fat, female, forty, and fertile |
|
Definition
| Acute cholecystitis (bile duct blockage) |
|
|
Term
| Fever, chills, headache, myalgia following antibiotic Irealmenl for syphilis |
|
Definition
| Jarisch-Herxheimer reaclion (rapid lysis of spirochetes results in loxin release) |
|
|
Term
| Fever, cough, conjunctivitis, coryza, diffuse rash |
|
Definition
|
|
Term
| Fever, night sweats, weight loss |
|
Definition
|
|
Term
| Fibrous plaques in soft tissue of penis |
|
Definition
| Peyronie's disease (connective tissue disorder) |
|
|
Term
| Gout, menial retardation, self-mutilating behavior in a boy |
|
Definition
| Lesch-Nyhan syndrome (HGPRT deficiency) |
|
|
Term
| Green-yellow rings around peripheral cornea |
|
Definition
| Kayser-Fleischer rings (copper accumulation from Wilson's disease) |
|
|
Term
| Hamartomalous Gl polyps, hyperpigmentation of mouth/feeVhands |
|
Definition
| Peulz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk) |
|
|
Term
| Hepatosplenomegaly, osteoporosis, neurologic symploms |
|
Definition
| Gaucher's disease (glucocerebrosidase deficiency) |
|
|
Term
Hereditary nephrilis, sensorineural
hearing loss, cataracts |
|
Definition
| Alport's syndrome (collagen mulation) |
|
|
Term
| Hypercoagulability (leading to migrating DVTs and vasculitis) |
|
Definition
| Trousseau's sign (adenocarcinoma of pancreas or lung) |
|
|
Term
| Hyperphagia, hypersexualily, hyperoralily, hyperdocilily |
|
Definition
| Kluver-Bucy syndrome (bilateral amygdala lesion) |
|
|
Term
| Hypertension, hypokalemia, metabolic acidosis |
|
Definition
| Conn's syndrome (1° hyperaldosteronism) |
|
|
Term
| Hypoxemia, polycythemia, hypercapnia |
|
Definition
| "Blue bloater" (chronic bronchitis: hyperplasia of mucous cells) |
|
|
Term
| Indurated, ulcerated genital lesion (nonpainful) |
|
Definition
| Chancre (1° syphilis: Treponema pallidum) |
|
|
Term
| Infant wilh failure to thrive, hepatosplenomegaly, neurodegeneration |
|
Definition
| Niemann-Pick disease (genetic sphingomyelinase deficiency) |
|
|
Term
| Infanl wilh hypoglycemia, failure to thrive, and hepatomegaly |
|
Definition
| Cori's disease (debranchlng enzyme deficiency) |
|
|
Term
| Infant with microcephaly, rocker-bottom feet, and structural heart defect |
|
Definition
| Edwards' syndrome (Trisomy 18) |
|
|
Term
| Jaundice, RUQ pain, fever |
|
Definition
| Charcot's triad 2 (ascending cholangitis) |
|
|
Term
| Keratin pearls on a skin lesion |
|
Definition
|
|
Term
| Large rash wilh bull's-eye appearance |
|
Definition
| Erythema chronicum migrans from lick bile (Lyme disease: Borrelia) |
|
|
Term
| Lucid interval after traumatic brain injury |
|
Definition
|
|
Term
| Male child, recurrent infections, no mature B cells |
|
Definition
| Bruton's disease (X-linked agammaglobulinemia) |
|
|
Term
| Mucosal bleeding and prolonged bleeding lime |
|
Definition
| Glanzmann's thrombasthenia (defeel in plalelel aggregation due to lack of Gpllb/IIIa) |
|
|
Term
| Mulliple colon polyps, osteomas/soft lissue lumors, impacted/supernumerary teeth |
|
Definition
| Gardner's syndrome (genetic disorder, predisposes lo colon cancer) |
|
|
Term
Necrolizing vasculitis (lungs) and
necrolizing glomerulonephritis |
|
Definition
| Wegener's and Goodpasture's syndromes (hemoptysis and glomerular disease) |
|
|
Term
| Neonate wilh arm paralysis following difficult birth |
|
Definition
| Erb-Duchenne palsy (superior trunk [C5-C6J brachial plexus injury: "waiter's lip") |
|
|
Term
| No lactation postpartum, absent menstruation, cold intolerance |
|
Definition
| Sheehan's syndrome (pituitary infarction) |
|
|
Term
| Nystagmus, intention Iremor, scanning speech |
|
Definition
| Charcot's triad 1 (mulliple sclerosis) |
|
|
Term
| Oscillating slow/fast breathing |
|
Definition
| Cheyne-Stokes respirations (cenlral apnea in CHF or T inlracranial pressure) |
|
|
Term
| Painful blue fingers/toes, hemolytic anemia |
|
Definition
| Cold agglutinin disease (auloimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis) |
|
|
Term
| Painful, pale, cold fingers/toes |
|
Definition
| Raynaud's syndrome (vasospasm in extremities) |
|
|
Term
| Painful, raised red lesions on palms and soles |
|
Definition
| Osier's node (infective endocarditis) |
|
|
Term
|
Definition
| Cancer of the pancrealic head obslrucling bile duct |
|
|
Term
| Palpable purpura, joint pain, abdominal pain (child) |
|
Definition
| Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys) |
|
|
Term
| Pancrealic, pituitary, parathyroid lumors |
|
Definition
| Wermer's syndrome (MEN 1) |
|
|
Term
| Pink complexion, dyspnea, hyperventilation |
|
Definition
| "Pink puffer" (emphysema: centroadnar [smoking], panacinar [alpha 1-antitrypsin deficiency]) |
|
|
Term
| Polyostotic fibrous dysplasia, precocious puberty, cafe-au-lait spots, short stature in a young girl |
|
Definition
| McCune-Albright syndrome (mosaic G-protein signaling mutation) |
|
|
Term
|
Definition
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|
Term
|
Definition
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Term
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Definition
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Term
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Definition
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