2282 results
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Harlequin Ichthyosis ... Rare genetic ... #Harlequin #Ichthyosis ... physicalexam #pediatrics #genetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Lipid Profiles - Differential ... Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... LipidProfiles #Differential
Primary and Secondary Causes of Cardiomyopathy
(a) Primary cardiomyopathies 
 - Genetic 
 - Mixed (genetic/acquired)
cardiomyopathies - Genetic ... - Mixed (genetic ... Cardiomyopathy #Differential
Congestive Heart Failure - Causes, Pathophysiology and Differential Diagnosis
 • Dilated Cardiomyopathy 
 • Hypertrophic Cardiomyopathy
Pathophysiology and Differential ... Infiltrative • Genetic ... Pathophysiology #Differential
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
Critical illness - Genetic ... Sulfamethoxazole - Genetic ... Hypoaldosteronism #Differential
Etiologies of hypertrophic cardiomyopathy
 - Genetic 
 - Storage diseases 
 - Neuromuscular and mitochondrial disorders
cardiomyopathy - Genetic ... cardiomyopathy #differential
Etiologies of dilated cardiomyopathy. HF, heart failure; HFrEF, heart failure with reduced ejection fraction; HIV, human
- Genetic ... cardiomyopathy #differential
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
Etiologies of Hypernatremia - Differential Diagnosis
GI losses / Insensible losses
Sodium Overload
Transcellular Movement of Water
Central Diabetes Insipidus
Hypernatremia - Differential ... - Various rare genetic ... - Various rare genetic ... Hypernatremia #Differential