Terms & Definitions

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A AGSA = Association of Genetic Support of Australia web - http://www.agsa-geneticsupport.org.au/ B BMC = (medical term)  Bone Mineral Content Refers to the minerals that make up a bone. BMD = (medical term)  Bone Mineral Density Refers to how dense a bone is. The less dense a bone is, the more likely it is to fracture. C CAT SCAN = (medical term)  Computerized Anatomical Tomography Refers to a widely used painless technology which assists in the diagnosis and treatment of many conditions. It is also known as computerised axial tomography (CAT) and computerised transaxial tomography (CTAT). CNS = (medical term)  Central Nervous System Refers to the brain and the spinal column in humans. ConnecTeD = A fund raising committee of the New Children's Hospital to raise funds to support the Connective Tissue Dysplasia Clinic of the hospital. CRS = Commonwealth Rehabilitation Service web - http://www.crsrehab.gov.au/ D DDS = Development Disability Service DEXA = (medical term)  Dual Energy X-ray Absorptiometry (known as DXA or DEXA) Refers to an enhanced form of x-ray technology that is a a quick, painless procedure for measuring bone loss. DNA = (medical term)  Deoxyribonucleic Acid The genetic information of the cell is stored in the DNA molecule. DOCS = Department of Community Services web - http://www.community.nsw.gov.au/ E ECG = (medical term)  Electrocardiogram (sometimes called an EKG) Refers to a test that measures the electrical activity of the heartbeat. ENT = (medical term)  Ear, nose and throat. Usually used in context of 'E N T specialist' - medical specialist dealing with ear, nose and throat medical issues. F FBC = (medical term)  Full blood count. H HGSA = Human Genetic Society of Australasia web - http://www.hgsa.com.au/ HUGO = Human Genome Organisation web - http://www.gene.ucl.ac.uk/hugo/ I ILC = Independent Living Centre web - http://www.ngo.net.au/ilcnsw/ IV = (medical term)  Intravenous (drip) M MRI = (medical term)  Magnetic Resonance Imaging Refers to a technique that uses radiofrequency waves and a strong magnetic field rather than x-rays to provide remarkably clear and detailed pictures of internal organs and tissues. An MRI can give very clear pictures of soft-tissue structures near and around bones, it is the most sensitive exam for spinal and joint problems. MSU = (medical term)  Midstream urine sample N NH&MRC = National Health & Medical Research Council web - http://www7.health.gov.au/nhmrc/ S SAFDA = Support After Fetal Diagnosis of Abnormality Support Group web - http://www.gsnv.org.au/SAFDA/ T TAD = Technical Aids for the Disabled web - http://www.technicalaidnsw.org.au/