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It's All in The Genes - Coggle Diagram
It's All in The Genes
Diagnosis
history taking
physical examination
steps
laboratory investigations
initial evaluation
specialized tests
Galactosemia
Etiology
Type 1 Galactosemia / Classic Galactosemia
Type 3 Galactosemia
Type 2 Galactosemia
Symptoms
Ascites
Cataracts
Hepatomegaly
Diagnosis
Galactosemia Test (Specialised test)
Beutler's Test
Inheritance of inborn metabolism errors
Mendelian inheritance
Consanguineous marriage
Family pedigree
EBM
Integration between
Best research evidence
Clinical expertise
Patient values
Steps
Inborn error of metabolism
hypoglycemia
Galactosemia
Hereditary fructose intolerance
Glycogen storage disease
Disorders of fatty acid
principles of medical ethics
Autonomy
Beneficence
Non-Maleficence
Justice
Galactosemia and psychosocial
Management of galactosemia
Longterm effects
Cognitive imparities
Psychosocial aspects
Patients compliance