Arteriography - Imaging of the artery using x-rays, gamma rays, or other radiation
Colonoscopy - Imaging of the colon by inserting a camera through the anus
Colostomy - An operation to remove part of the colon and/or divert one end of the colon through the abdomen to form a stoma. This can be temporary or permanent.
Connective tissue - Tissue that connects and supports organs and other tissues
De novo - The mutation is present for the first time in family, it was not inherited
Ecchymoses - Discolouration of areas of skin due to bleeding underneath
Fibromyalgia - Muscular pain, stiffness, and tenderness
Haematoma - Localised collection of blood outside a vessel
Haploinsufficiency - is a mechanism of action to explain a pathological phenotype in which a diploid organism has lost one copy of a gene and is left with a single functional copy of that gene.
Ileostomy - An operation to remove a part of the small intestine and divert the end that is no longer attached to the colon through the abdomen to form a stoma. Can be temporary or permanent.
Inguinal hernia - Protrusion of abdominal-cavity contents through the inguinal canal
Loeys-Dietz syndrome - Genetic connective tissue disorder, characterised by an enlarged aorta, scoliosis, and premature bone fusion
Marfan syndrome - Genetic connective tissue disorder, characterised by long limbs and extremities, scoliosis, and hyperflexibility
Obstetrician - A doctor who specialises in pregnancy, childbirth, and female reproductive anatomy
Pneumothorax - Lung collapse
Skin biopsy - A skin sample is taken and studied under a microscope to determine if there is any disease
Varicose veins - Enlarged, bulging veins, often in the legs and feet
Glossary
