medportal CDB | Taxonomy | MeSH / Genetic Diseases, Inborn [C16.320]

Taxonomies

MeSH

Genetic Diseases, Inborn [C16.320]

Only show most relevant

Child Tags

Chromosome Disorders [C16.320.180]

Anemia, Hemolytic, Congenital [C16.320.070]

Metabolism, Inborn Errors [C16.320.565]

Adrenal Hyperplasia, Congenital [C16.320.033]

Genetic Diseases, X-Linked [C16.320.322]

Dwarfism [C16.320.240]

Cystic Fibrosis [C16.320.190]

Neoplastic Syndromes, Hereditary [C16.320.700]

Activities

Autosomal Dominant Disorders (Archived)
Large Group Session

Part 2 / Medical Foundation 2

Mutation Patterns and Genetic Counselling (Archived)
Large Group Session

Part 1 / Medical Foundation 1 / Hematology

Alexandria Vardalos MF2 Hematology
Tutorial

Part 2 / Medical Foundation 2 / Hematology / Week 1

Shane Mosley MF2 Hematology
Tutorial

Part 2 / Medical Foundation 2 / Hematology / Week 2

Mr. JM MF2 Hematology
Tutorial

Part 2 / Medical Foundation 2 / Hematology / Week 2

Inheritance Patterns (Archived)
Large Group Session

Part 1 / Medical Foundation 1 / Hematology / Week 4

Newborn Screening (Archived)
Large Group Session

Part 3

Clinical Consequences of X and Y Chromosome Abnormalities (Archived)
Large Group Session

Part 3 / Medical Foundation 3 / Reproduction and Pregnancy

Hannah Rosen Part 1 MF3 Gastroenterology and Nutrition
Tutorial

Part 3 / Medical Foundation 3 / Gastroenterology and Nutrition / Week 1

Michel Dupois MF3 Endocrinology
Tutorial

Part 3 / Medical Foundation 3 / Endocrinology / Week 3

Godlewski Family IF Host Defence and Neoplasia
Tutorial

Part 5 / Integration Foundation / Host Defense and Neoplasia / Week 3

Farrell Brothers MF4 Neoplasia (Archived)
Tutorial

Philippe LaCologne Part 1 MF4 Neoplasia (Archived)
Tutorial

Objectives

Upon completion of this case, students will be able to explain the role of the pancreas and the small intestine in digestion and absorption. As well, they will be able to describe the basics of autosomal recessive inheritance and the use of molecular genetic testing for the diagnosis of cystic fibrosis.
Global Objectives

Part 2

Upon completion of this problem, students should be able to describe the role of coagulation factors in secondary hemostasis. Students should be able to assess the risk to family members of an individual with an X-linked condition.
Global Objectives

Part 2 / Medical Foundation 2 / Hematology

Describe the inheritance patterns of genetic disorders of hemoglobin, with emphasis on sickle cell disease and thalassemia.
General Objectives

Part 2 / Medical Foundation 2 / Hematology

Tag Info

Taxonomy

Tag Parent

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]

Use Count

19

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