Term
Budd-Chiari Syndrome
(posthepatic venous thrombosis) |
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Definition
Abdominal Pain
Ascites
Hepatomegaly
No JVD |
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Term
Familial Hypercholesterolemia
(decreased LDL receptor signaling" |
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Definition
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Term
Waterhouse-Friderichsen Syndrome
(meningococcemia) |
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Definition
Adrenal hemorrhage
Hypotension
DIC |
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Term
Marfan's Syndrome
(fibrillin defect) |
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Definition
Arachnodactyly
lens dislocation *
aortic dissection
hyperflexible joints |
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Term
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Definition
| Athlete with polycythemia |
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Term
Pott's Disease
(vertebral tuberculosis) |
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Definition
Back pain
Fever
Night Sweats
Weight Loss |
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Term
Sarcoidosis
(noncaseating granulomas) |
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Definition
Bilateral hilar adenopathy *
uveitis |
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Term
Osteogenesis Imperfecta
(collagen defect, Type I) |
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Definition
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Term
Lead poisoning
(Burton's Line) |
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Definition
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Term
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Definition
Bone Pain
Bone enlargement
Arthritis
Fractures
Increased hat size
Increased Alkaline Phosphatase |
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Term
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Definition
Bounding Pulses
Diastolic Heart Murmur
Head bobbing |
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Term
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Definition
| "Butterfly" facal rash and Raynaud's Phenomenon in a young female |
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Term
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Definition
Cafe-au-lait spots
Lisch nodules (iris hamartoma)
pheochromocytoma
optic gliomas |
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Term
| Neurofibromatosis Type II |
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Definition
Cafe-au-lait spots
Lisch nodules
bilateral acoustic neuromas |
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Term
McCune-Albright Syndrome
(mosaic G-protein signaling mutation) |
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Definition
Cafe-au-lait spots
Polyostotis fibrous dysplasia
precocious puberty |
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Term
Muscular dystrophy (Duchenne's)
X-linked recessive deletion of dystrophin gene |
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Definition
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Term
Tay-Sachs (ganglioside accumulation)
Neimann Pick (sphingomyelin accumulation)
Central Retinal Artery Occlusion |
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Definition
| "Cherry-red spot" on macula |
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Term
Dressler's Syndrome
(autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode) |
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Definition
Chest pain
pericardial effusion/friction rub*
persistent fever following MI |
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Term
Gowers' sign
(Duchenne muscular dystrophy) |
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Definition
| Child uses arms to stand up from squat |
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Term
"Slapped cheeks"- Erythemia infectiosum/fifth disease
(Parvovirus B19) |
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Definition
| Child with fever develops red rash on face that spread to body |
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Term
Huntington's disease
(autosomal dominant CAG repeat expansion) |
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Definition
Chorea
Dementia
Caudate Degeneration (Ach is decreased) |
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Term
McArdle's Disease
(muscle glycogen phosphorylase deficiency)
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Definition
Chronic exercise intolerance with myalgia
fatigue
painful cramps
myoglobinuria |
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Term
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Definition
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Term
Internuclear Ophthalmoplegia
(Damage to MLF; bilateral = MS, unilateral = stroke) |
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Definition
Conjugate lateral gaze palsy
Horizontal Diplopia
Can go to Midline with convergence |
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Term
PDA
(close with indomethacin; open with misoprostol (PGE2)) |
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Definition
| Continuous "Machine-like" heart murmur |
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Term
Myxedema
(caused by hypothyroidism, Grave's disease -periorbital) |
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Definition
| Cutaneous/dermal edema due to the connective tissue deposition |
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Term
Kaposi's Sarcoma
(a/w HHV-8) |
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Definition
Dark purple skin/mouth nodules
usually AIDS patients |
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Term
Kussmaul breathing
(Diabetic Ketoacidosis) |
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Definition
| Deep, labored breathing/hyperventilation |
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Term
Pellegra
(Niacin [vitamin B3] deficiency) |
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Definition
Dermatitis
Dementia
Diarrhea |
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Term
Wet Beriberi
(thiamine [vit. B1] deficiency) |
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Definition
Dilated cardiomyopathy
Edema
Polyneuropathy |
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Term
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Definition
Cellulitis at inoculation site
Dog or cat bite resulting in infection |
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Term
Sjrogen's Syndrome
(autoimmune destruction of exocrine glands) |
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Definition
Dry eyes
Dry mouth
Arthritis |
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Term
Plummer-Vinson Syndrome
(may progress to esophageal squamous cell carcinoma) |
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Definition
Dysphagia (esophageal webs)
Glossitis
Iron deficency anemia |
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Term
Ehlers-Danlos Syndrome
(type III collagen defect) |
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Definition
Elastic skin
hypermobility of joints |
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Term
Virchow's Node
(abdominal metastasis) |
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Definition
| Enlarged, hard left supraclavicular node |
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Term
Sezary Syndrome
(cutaneous T-cell lymphoma) or Mycosis Fungoides |
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Definition
Erythoderma
lymphadenopathy
Hepatosplenomegaly
Atypical T cells |
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Term
Chvostek's sign
(hypocalcemia) |
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Definition
| Facial spasm upon tapping |
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Term
Acute Cholelithiasis
(bile duct blockage) |
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Definition
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Term
Jarish-Herxheimer Reaction
(rapid lysis of spirochetes results in toxin release) |
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Definition
Fever, Chills, Headache, Myalgia
Following antibiotic treatment for syphilis |
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Term
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Definition
Fever
Cough
Conjuctivitis
Coryza (allergy symptoms)
Diffuse Rash |
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Term
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Definition
Fever
Night sweats
Weight loss |
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Term
Peyronie's Disease
(connective tissue disorder) |
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Definition
| Fibrous plaques in soft tissue of penis (dorsum) |
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Term
Lesch-Nyhan Syndrome
(HGPRT deficiency, X-linked recessive) |
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Definition
Gout
Mental Retardation
Self-mutilating behavior in a boy* |
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Term
Kayser-Fleischer Rings
(copper accumulation from Wilson's disease) |
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Definition
| Green-yellow rings around peripheral cornea |
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Term
Peutz-Jeghers Syndrome
(genetic benign popyposis can cause bowel obstruction; increased cancer risk) |
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Definition
Hamartomatous GI polyps
Hyperpigmentation of mouth/feet/hands |
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Term
Gaucher's Disease
(Glucocerebrosidase deficiency) |
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Definition
Hepatosplenomegaly
Osteoporosis
Neurologic symptoms
Crinkled tissue paper in cytoplasm |
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Term
Alport Syndrome
(mutation in alpha chain of collagen IV) |
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Definition
Hereditary nephritis
Sensorineural hearing loss
Cataracts |
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Term
Trousseau's Sign
(adenocarcinoma of pancreas or lung) |
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Definition
Hypercoaguability
(leading to migrating DVTs and vasculitis) |
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Term
Kluver-Bucy Syndrome
(bilateral amygdala lesion) |
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Definition
Hyperphagia
Hypersexuality
Hyperorality
Hyperdocility |
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Term
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Definition
Hyperreflexia
Positive Babinski sign
Hypertonia |
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Term
Conn's Syndrome
(hyperaldosteronism) |
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Definition
Hypertension
Hypokalemia
metabolic alkalosis |
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Term
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Definition
Hyporeflexia
Hypotonia
Atrophy |
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Term
"Blue bloater"
(chronic bronchitis: hyperplasia of mucous cells) |
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Definition
Hypoxemia
Polycythemia
Hypercapnia |
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Term
Nonpainful: Chancre
(Primary syphilis, Treponemia pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi) |
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Definition
| Indurated, ulcerated genital lesion |
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Term
Niemann-Pick Disease
(genetic sphigomyelinase deficiency) |
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Definition
Infant with failure to thrive
Hepatosplenomegaly
Neurodegeneration |
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Term
Cori's disease
(debranching enzyme deficiency)
Von Gierke's |
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Definition
Infant in hypoglycemia
Failure to thrive
hepatomegaly |
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Term
Edwards' syndrome
(trisomy 18) |
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Definition
Infant with microcephaly
Rocker-bottom feet
Clenched hands
Structural heart defect |
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Term
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Definition
| Keratin pearls on a skin biopsy |
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Term
Erythema Chronicum migrans from Ixodes tick bite
(Lyme disease: Borrelia) |
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Definition
| Large rash with bull's eye appearance |
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Term
Epidural Hematoma
(middle meningeal artery rupture) |
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Definition
| Lucid interval after traumatic brain injury |
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Term
Bruton's disease
(X-linked agammaglobulinemia) |
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Definition
Male child
recurrent infections
no mature B cells |
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Term
Glanzmann's thrombasthenia
(defect in platelet aggrehation due to lack of GpIIb/IIIa) |
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Definition
| Mucosal bleeding and prolonged bleeding time |
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Term
Gardner's Syndrome
(subtype of FAP) |
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Definition
Multiple colon polyps
osteomas/soft tissue tumors
impacted/supernumerary teeth |
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Term
Pompe's disease
(lysosomal alpha-1,4-glucosidase deficiency) |
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Definition
Myopathy (infantile hypertrophic cardiomyopathy)
exercise intolerance |
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Term
Wegener's (c-ANCA positive)
Goodpasture's syndrome (anti-basement membrane antibodies) |
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Definition
| Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis |
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