Term
Abdominal pain
ascites
hepatomegaly |
|
Definition
Budd-Chiari syndrome
(posthepatic venous thrombosis) |
|
|
Term
|
Definition
Familial hypercholesterolemia
(low LDL receptor signaling) |
|
|
Term
Adrenal hemorrhage
Hypotension
DIC |
|
Definition
Waterhouse-Friederichsen syndrome
(meningococcemia) |
|
|
Term
Arachnodactyly
lens dislocation
aortic dissection
hyperflexible joints |
|
Definition
Marfan's Syndrome
Fibrillin defect |
|
|
Term
| Athlete with polycythemia |
|
Definition
|
|
Term
Back pain
fever
night sweats
weight loss |
|
Definition
Pott's disease
(vertebral TB) |
|
|
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
| Bounding pulses diastolic murmur head bobbing |
|
Definition
|
|
Term
Butterfly facial rash
Raynaud's phenomenon
young woman |
|
Definition
|
|
Term
Cafe-au-lait spots
Lisch nodules (iris hamartoma)
pheochromocytoma
optic gliomas |
|
Definition
|
|
Term
Cafe-au-lait spots
Lisch nodules (iris hamartomas)
bilateral acoustic neruoma |
|
Definition
|
|
Term
Cafe-au-lait spots
polyostotic fibrous dysplasia
precocious puberty |
|
Definition
McCune-Albright Syndrome
(mosaic GPCR mutation) |
|
|
Term
|
Definition
| Muscular dystrophy (most likely Duchenne's) |
|
|
Term
| Cherry red spot on macula |
|
Definition
Tay-Sachs
Niemann-Pick
Central retinal artery occlusion |
|
|
Term
Chest pain
pericardial effusion/friction rub
persistent fever
MI 1-12 weeks ago |
|
Definition
Dressler's syndrome
(autoimmune mediated post-MI fibrinous pericarditis) |
|
|
Term
| Child uses arms to stand up from squat |
|
Definition
Gower's sign
(Duchenne's Muscular Dystrophy) |
|
|
Term
| Child with fever develops red rash on face that spreads to body |
|
Definition
Erythema infectiosum
(Parvovirus B19) |
|
|
Term
Chorea
dementia
caudate degeneration |
|
Definition
Huntington's disease
(autosomal dominant CAG repeat expansion) |
|
|
Term
| Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria |
|
Definition
McArdle's disease
(MUSCLE glycogen phosphorylase deficiency) |
|
|
Term
|
Definition
|
|
Term
Conjugate lateral gaze palsy
horizontal diplopia |
|
Definition
Internuclear opthalmoplegia from MLF lesion
MS if bilateral
Stroke if unilateral |
|
|
Term
| Continuous machine like murmur |
|
Definition
PDA
(close with indomethacin)
(keep open with misoprostol) |
|
|
Term
| Cutaneous/dermal edema due to connective tissue deposition in the legs |
|
Definition
| Myxedma from hypothyroidism |
|
|
Term
| Periorbital cutaneous/dermal edema due to connective tissue deposition in the legs |
|
Definition
|
|
Term
| Dark purple skin/mouth nodules |
|
Definition
|
|
Term
| Deep labored breathing/hyperventilation |
|
Definition
Kussmaul Breathing
(Diabetic Ketoacidosis) |
|
|
Term
Dermatitis
dementia
diarrhea |
|
Definition
Pellagra
(Niacin deficiency) |
|
|
Term
Dilated cardiomyopathy
edema
polyneuropathy |
|
Definition
Wet beriberi
Thiamine deficiency |
|
|
Term
| Skin infection following dog or cat bite |
|
Definition
|
|
Term
Dry eyes
dry mouth
arthritis |
|
Definition
|
|
Term
Dysphagia
glossitis
iron deficiency anemia |
|
Definition
Plummer-Vinson syndrome
(increased risk of SCC) |
|
|
Term
Elastic skin
hyper mobility of joints |
|
Definition
Ehlers-Danlos
(type 3 collagen deficit) |
|
|
Term
| Enlarged, hard left supraclavicular node |
|
Definition
Virchow's node
(met from abdominal cancer) |
|
|
Term
Erythroderma
lymphadenopathy
hepatosplenogegaly
atypical T cells |
|
Definition
Sezary Syndrome/Mycosis Fungoides
(cutaneous T cell lymphoma) |
|
|
Term
| Facial muscle spasm upon tapping |
|
Definition
Hypocalcemia
(Chvostek's Sign) |
|
|
Term
|
Definition
Acute cholelithiasis
(bile duct blockage) |
|
|
Term
| Fever, chills, headache and myalgia following treatment for syphillis |
|
Definition
Jarisch-Herxheimer reaction
(rapid lysis of spirochetes releases toxin) |
|
|
Term
Fever
cough
conjuctivitis
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
mental retardation
self-mutilating behavior
male |
|
Definition
Lesh-Nyan Syndrome
(X-linked recessive HGPRT deficiency) |
|
|
Term
| Green-yellow rings around peripheral cornea |
|
Definition
| Kayser-Fleischer rings of Wilson's disease |
|
|
Term
Hamartomatous GI polyps
hyper pigmentation of mouth, feet, and hands |
|
Definition
|
|
Term
Hepatosplenomegaly
osteoporosis
neurologic symptoms |
|
Definition
Gaucher's disease
(glucocerebrosidase deficiency) |
|
|
Term
Hereditary nephritis
sensorineural hearing loss
cataracts |
|
Definition
Alport syndrome
(mutation in alpha chain of type 4 collagen) |
|
|
Term
| Migrating DVTs and vasculitis |
|
Definition
Trousseau's syndrome
(adenocarcinoma of pancreas or lung) |
|
|
Term
Hyperphagia
hypsesexuality
hyperorality
hyperdocility |
|
Definition
Kluver-Bucy Syndrome
(bilateral amygdala lesions) |
|
|
Term
Hyperreflexia
hypertonia
positive babinski |
|
Definition
|
|
Term
Hypertension
hypokalemia
metabolic alklaosis |
|
Definition
Conn's syndrome
(Hyperaldosteronism) |
|
|
Term
Hyporeflexia
hypotonia
atrophy |
|
Definition
|
|
Term
Hypoxemia
polycythemia
hypercapnia |
|
Definition
| Chronic bronchitis (hyperplaisa of mucous cells) |
|
|
Term
| Painless indurated, ulcerated genital lesion |
|
Definition
|
|
Term
| Painful indurated, ulcerated lesion with exudate |
|
Definition
|
|
Term
Infant with failure to thrive
hepatosplenomegaly
neurodegeneration |
|
Definition
Niemann-Pick
(sphingomyelin deficiency) |
|
|
Term
Infant with hypoglycemia
failure to thrive
hepatomegaly |
|
Definition
Cori's disease
(debranching enzyme deficiency) |
|
|
Term
Infant with microcephaly
rocker-bottom feet
clenched hands
structural heart defect |
|
Definition
Edward's Syndrome
(Trisomy 18) |
|
|
Term
| Large rash with bull's eye appearance |
|
Definition
Erythema chronicum migrans
(lyme disease) |
|
|
Term
| lucid interval after traumatic brain injury |
|
Definition
Epidural hematoma
(middle meningeal artery rupture) |
|
|
Term
Male child
recurrent infection
no mature B cells |
|
Definition
| Bruton's agammaglobulinemia |
|
|
Term
Mucosal bleeding
increased bleeding time |
|
Definition
Glanzmann's thrombasthenia
(lack of Gp2b/3a on platelets) |
|
|
Term
Multiple colon polyps
osteomas/soft tissue tumors
impacted/supernumerary teeth |
|
Definition
Gardner's syndrome
(subtype of FAP) |
|
|
Term
Infantile hypertrophic cardiomyopathy
exercise intolerance |
|
Definition
Pompe's disease
(alpha 1-4 glucosidase deficiency) |
|
|
Term
Necrotizing vasculitis in the lungs
necrotizing glomerulonephritis |
|
Definition
Wegener's (if C-ANCA positive)
Goodpasture's (if basement membrane antibody positive) |
|
|
Term
| Neonate with arm paralysis following difficult birth |
|
Definition
Erb-Duchenne palsy (waiter's tip)
Brachial plexus superior trunk injury (C5-C6) |
|
|
Term
No lactation pospartum
absent menstruation
cold intolerance |
|
Definition
Sheehan's syndrome
(pituitary infarction) |
|
|
Term
Nystagmus
intention tremor
scanning speech
bilateral internuclear opthalmoplegia |
|
Definition
|
|
Term
| Oscillating slow/fast breathing |
|
Definition
(Cheyne-Stokes Breathing)
Central apnea in CHF
Increased intracranial pressure |
|
|
Term
Painful blue fingers/toes
hemolytic anemia |
|
Definition
Autoimmune hemolytic anemia with cold agglutination
(Mycoplasma or Mono) |
|
|
Term
| Painful, pale, cold fingers/toes |
|
Definition
|
|
Term
| Painful, raised red lesions on palms and soles |
|
Definition
Infective endocarditis
(Osler's Nodes) |
|
|
Term
| Painless erythematous lesions on palms and soles |
|
Definition
Infective endocarditis
(Janeway lesions) |
|
|
Term
|
Definition
| Cancer of the pancreatic head obstructing the bile duct |
|
|
Term
child with palpable purpura on buttocks/legs
joint pain
abdominal pain |
|
Definition
Henoch-Schonlein purpura
(IgA vasculitis of skin and kidneys) |
|
|
Term
| Pancreatic, pituitary, and parathyroid tumors |
|
Definition
|
|
Term
Pink complexion
dyspnea
hyperventilation |
|
Definition
Emphysema
(smoking or alpha-1-antitrypsin deficiency) |
|
|
Term
Polyuria
acidosis
growth failure
electrolyte imbalances |
|
Definition
Fanconi's Syndrome
(proximal tubule reabsorption defect) |
|
|
Term
| Positive anterior drawer sign |
|
Definition
|
|
Term
|
Definition
Horner's syndrome
(sympathetic chain lesion) |
|
|
Term
| Pupil accommodates but doesn't react |
|
Definition
Argyll Robertson pupil
(neurosyphilis) |
|
|
Term
| Rapidly progressive leg weakness that ascends following a GI/URI |
|
Definition
Guillan-Barre
(autoimmune demyelination) |
|
|
Term
|
Definition
Coxsackie A
Secondary Syphilis
Rocky Mountain Spotted Fever |
|
|
Term
Recurrent colds
unusual eczema
high serum IgE |
|
Definition
Hyper IgE syndrome
(Job's syndrome, a neutrophil chemotaxis defect) |
|
|
Term
| Red currant jelly sputum in alcoholic or diabetic |
|
Definition
|
|
Term
| Red, itchy, swollen rash of nipple/areola |
|
Definition
Paget's disease of breast
(underlying neoplasm) |
|
|
Term
Red urine in the morning
fragile RBCs |
|
Definition
| Paraoxysmal noctural hemoglobinuria |
|
|
Term
Bilateral renal cell carcinoma
hemagioblastomas
angiomatosis
pheochromocyoma |
|
Definition
|
|
Term
Resting tremor
rigidity
akinesia
postural instability |
|
Definition
|
|
Term
| Retinal hemorrhages with pale centers |
|
Definition
Bacterial endocarditis
(Roth's spots) |
|
|
Term
| Severe jaundice in neonate |
|
Definition
Crigler-Najjar syndrome
(unconjugated billirubinemia) |
|
|
Term
| Severe RLQ pain with rebound tenderness |
|
Definition
Appendicits
(McBurney's sign) |
|
|
Term
Short stature
increased incidence of tumors/leukemia
aplastic anemia |
|
Definition
Fanconi's anemia
(loss of cross-link repair, often becomes AML) |
|
|
Term
|
Definition
Down's syndrome
(simian crease) |
|
|
Term
Situs inversus
chronic sinusitis
bronchiectasis
infertility |
|
Definition
Kartagener's Syndrome
(dyne in arm defect affecting cilia) |
|
|
Term
|
Definition
Primary adrenal insufficiency
(Addison's disease) |
|
|
Term
| Slow progressive muscle weakness in older |
|
Definition
| Becker's muscular dystrophy |
|
|
Term
| Small irregular red spots on buccal/lingual mucosa with blue-white centers |
|
Definition
Measles/Rubeola
(Koplik's spots) |
|
|
Term
| smooth, flat, moist white lesions on genitals |
|
Definition
Condyloma lata
(Secondary Syphilis) |
|
|
Term
| Splinter hemorrhages in fingernails |
|
Definition
|
|
Term
|
Definition
Scarlet fever
Kawasaki's disease
Toxic shock syndrome |
|
|
Term
Streak ovaries
congenital heart disease
horseshoe kidney
cystic hyrgroma at birth |
|
Definition
|
|
Term
Short stature
webbed neck
lymphedema |
|
Definition
|
|
Term
Sudden swollen/painful big toe joint
tophi |
|
Definition
Gout/podagra
(hyperuricemia) |
|
|
Term
Swollen gums
mucous bleeding
poor wound healing
spots on skin |
|
Definition
Scurvy
(Vitamin C deficiency - unable to hydroxylate collagen) |
|
|
Term
| Swollen, hard, painful finger joints |
|
Definition
|
|
Term
| Crescendo-descrescendo systolic ejection murmur |
|
Definition
|
|
Term
Thyroid tumors
parathryroid tumors
pheochromocytoma |
|
Definition
|
|
Term
Thyroid tumors
pheochromocytoma
ganglioneuromatosis |
|
Definition
|
|
Term
| Toe extension/fanning upon plantar scrape |
|
Definition
UMN lesion
(Babinski Sign) |
|
|
Term
| unilateral facial drooping involving forehead |
|
Definition
LMN CN 7 palsy
(Bell's palsy) |
|
|
Term
Urethritis
conjuctivitis
arthritis
male |
|
Definition
Reactive arthritis
(HLA-B27) |
|
|
Term
Vascular birthmark
(port-wine stain) |
|
Definition
Hemangioma
(Sturge-Weber syndrome) |
|
|
Term
| Vomiting blood following esophagogastric lacerations |
|
Definition
Mallory-Weiss syndrome
(alcoholics and bulimics) |
|
|
Term
| Waxy casts with very low urine flow |
|
Definition
| chronic end-stage renal disease |
|
|
Term
|
Definition
|
|
Term
Weight loss
diarrhea
arthritis
fever
adenopathy |
|
Definition
Whipple's disease
(Tropheryma whippelii) |
|
|
Term
| Worst headache of my life |
|
Definition
|
|
