DIAGNOSIS

&
DIFFERENTIAL DIAGNOSIS

Enrico, MD
Radiologist
DIAGNOSIS (Greek: διάγνωσις)
DIAGNOSIS (MEDICAL DIAGNOSIS)
= DX or DS

Process of determining which disease or condition

explains a person's symptoms and signs

 An attempt to classify any individual conditions into

separate and distinct categories that allow medical
decisions about treatment and prognosis to be made
• Information required 
• History taking
• Physical examination
• One or more diagnostic procedures (laboratory, radiology)
• Often challenging 
• Signs and symptoms are nonspecific
• Example: erythema
• Not often pathognomonic
DIFFERENTIAL DIAGNOSIS,
MEDICAL ALGORITHMS, &
DIAGNOSTIC CRITERIA
• Differential Diagnosis
• Medical Algorithms
• Diagnostic Criteria
DIFFERENTIAL DIAGNOSIS
= DD or DDX

 A process of identifying all of the possible diagnoses

that could be connected to the signs, symptoms, and
laboratory findings, and then ruling out diagnoses until a
final determination can be made
• Finding as many candidate diseases or conditions
• Possible causes of the signs or symptoms
• Present with similar clinical features 
• Process of elimination
• Further medical tests and other processing
• Final result
• List of possible conditions, ranked in order of probability or
severity
MEDICAL ALGORITHMS

 Any computation, formula, statistical survey, or table,

useful in healthcare 

 Decision tree
• Clear-cut tools aimed at reducing or defining uncertainty
• Approaches to healthcare treatment
DIAGNOSTIC CRITERIA

 Design of specific combination of signs and

symptoms, and test results that the clinician uses to
attempt to determine the correct diagnosis
OVER DIAGNOSIS &
ERRORS IN DIAGNOSIS
OVER DIAGNOSIS
• May be irrelevant diagnosis
• Unnecessary , economic waste $
• May cause harm 
• May be never cause symptoms or death during a
patient's lifetime 
MISSED DIAGNOSIS
• Causes and factors of error in diagnosis:
• The manifestation of disease are not sufficiently noticeable
• A disease is omitted from consideration
• The condition is a rare disease with symptoms suggestive
of many other conditions 
• The condition has a rare presentation
SUB-TYPES OF DIAGNOSIS
& TERMS
• Clinical diagnosis • Diagnostic criteria
• Laboratory diagnosis • Prenatal diagnosis
• Radiology diagnosis • Remote diagnosis
• Tissue diagnosis • Computer-aided diagnosis
• Differential diagnosis • Working diagnosis
SAMPLE CASES
1. CHEST PAIN
• A 56 years age male Howard visits his doctor
complaining of pain in his chest
• Since a heart attack is a common cause of chest pain,
his doctor’s first priority is to make sure that Howard is
not experiencing one. Other common causes of chest
pain include pain in the chest wall (myositis),
gastroesophageal reflux disease (GERD), pleuritis, and
pericarditis
• The doctor performs an electrocardiogram to evaluate
Howard’s heart. They also order blood tests to check
for certain enzymes that’re associated with a heart
attack. The results from these assessments are normal
• Howard tells his doctor that his pain feels like a burning
sensation. It typically comes shortly after having a
meal. In addition to his chest pain, he sometimes has a
sour taste in his mouth
• From the description of his symptoms as well as the
normal test results, Howard’s doctor suspects that
Howard may have GERD. The doctor prescribes
Howard a course of proton pump inhibitors that
eventually relieves his symptoms
2. HEADACHE
• Maria goes to see her doctor because she’s having a
persistent headache
• In addition to performing a basic physical examination,
Maria’s doctor asks about her symptoms. Maria shares that
the pain from her headaches is moderate to severe. She
sometimes feels nausea and sensitivity to light while they’re
occurring
• From the information provided, Maria’s doctor suspects
that the most likely conditions could be migraines, tension
headaches, or possibly a post-traumatic headache
• The doctor asks a follow-up question: Have you
experienced any sort of head injury recently? Sue
responds that yes, she had fallen and hit her head a
little over a week ago
• With this new information, Maria’s doctor now
suspects a post-traumatic headache. The doctor may
prescribe pain inhibitors or anti-inflammatory
medications for her condition. In addition, the doctor
may perform imaging tests such as an MRI or CT scan
to rule out bleeding in the brain or a tumor
3. PNEUMONIA
• Andre visits his doctor with symptoms of pneumonia: fever,
cough, chills, and pains in his chest
• Andre’s doctor performs a physical exam, including listening
to his lungs with a stethoscope. They perform a chest X-ray
to view his lungs and confirm pneumonia
• Pneumonia has different causes — particularly if it’s
bacterial or viral. This can affect treatment
• Andre’s doctor takes a mucus sample to test for the
presence of M. tuberculosis basil. It comes back positive, so
the doctor prescribes a course of anti-tuberculosis drugs to
treat the infection
4. HYPERTENSION
• Adonia is at her doctor’s office for a routine physical. When
her doctor takes her blood pressure, it is high
• Common causes of hypertension include unknown cause,
certain medications, kidney disease, obstructive sleep apnea,
and thyroid problems
• High blood pressure doesn’t run in Adonia’s family, although
her mother had thyroid problems. Adonia doesn’t smoke
and non-alcoholic. Additionally, she’s not currently taking
any medications that could lead to high blood pressure
• Adonia’s doctor then asks if she’s noticed anything else
that seems out of the ordinary with her health lately.
She replies that she feels as if she’s been losing weight
and that she often feels hot or sweaty
• The doctor performs laboratory tests to assess kidney
and thyroid function
• The kidney test results are normal, but Adonia’s
thyroid results indicate hyperthyroidism. Adonia and
her doctor begin to discuss treatment options for her
overactive thyroid
5. STROKE
• A family member takes Yosua to receive immediate
medical attention because they suspect he’s having a
stroke
• Yosua’s symptoms include headache, confusion, loss of
coordination, and impaired vision. The family member
also lets the doctor know that one of Yosua’s parents
had a stroke in the past and that Yosua smokes
cigarettes frequently
• From the symptoms and history provided, the doctor
strongly suspects a stroke, although low blood glucose
can also cause symptoms similar to a stroke
• They perform an echocardiogram to check for an
abnormal rhythm that could lead to clots, which could
travel to the brain. They also order a CT scan to check
for brain hemorrhaging or tissue death. Lastly, they
perform blood tests to see the speed at which Yosua’s
blood clots and to assess his blood glucose levels
• The CT scan indicates a hemorrhage in the brain,
confirming that Yosua has had a hemorrhagic stroke
• Since a stroke is a medical emergency, the doctor may
begin emergency treatment before all test results are
obtained
THANK YOU