Table 3.
Glossary
| Term | Definition | Examples |
|---|---|---|
| Antagonist muscle | Muscle opposite to the one contracting | When the biceps contracts, the triceps relaxes. In this case, the triceps is the antagonist muscle |
| Chiari malformation | Condition in which brain tissue or cerebellum extends into the spinal canal. It occurs when part of the skull is abnormally small or misshapen, pressing on the brain and forcing it downward | – |
| Chromosomal aberrations | Abnormality in the structure or number of chromosomes | Trisomy 21, trisomy 13, trisomy 18, microdeletions, and microduplications |
| Coronal plane | Any vertical plane that divides the body into ventral and dorsal (belly and back) sections | – |
| Cryptorchidism | A condition in which one or both of the testes fail to descend from the abdomen into the scrotum | – |
| Deformative | Altered morphogenesis secondary to mechanical forces | – |
| Diastematomyelia | Congenital disorder in which a part of the spinal cord is split | – |
| Disruptive (cause) | Pathological arrest in development of a normal tissue | Amniotic band sequence, vascular or infectious causes |
| Dysplasia | The abnormal growth or development of a tissue or organ | Hip dysplasia |
| Embryogenesis | The formation and development of an embryo | – |
| Genotype | Genetic constitution of an organism that participates in determining its observable characteristics | – |
| Hydrocephalus | Excess cerebrospinal fluid which builds up within the ventricles (fluid‐containing cavities) of the brain and may increase pressure within the head | – |
| Iatrogenic (cause) | Relating to illness caused by medical examination or treatment | Failed abortion |
| ICD 10 coding system | International classification of diseases, tenth revision, clinical modification is a system used by physicians and other healthcare providers to classify and code all diagnoses, symptoms, and procedures | – |
| Ischemic lesion | Lack of blood flow to the brain that leads to limited oxygen supply | – |
| Lissencephaly | Brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head | – |
| Intrauterine growth retardation | A condition in which a baby does not grow to normal weight during pregnancy | – |
| Microcephaly | A condition in which the brain does not develop properly resulting in a smaller than normal head | – |
| Microdeletions | Loss of a tiny piece of a chromosome, not seen on a karyotype | – |
| Microduplications | Tiny extra piece of a chromosome, not seen on a karyotype | – |
| Myopathy | Disease of the muscle in which the muscle fibers do not function properly | – |
| Neural axis | The axis of the CNS, that is, brain and spinal cord | – |
| Neurography | Neurography or magnetic resonance neurography is the direct imaging of nerves in the body. It is a modification of magnetic resonance imaging | |
| Neuropathy | A condition that affects the normal activity of the nerves of the peripheral nervous system. It causes weakness, numbness, and pain | – |
| Oligohydramnios (or oligoamnios) | An abnormal condition occurring during pregnancy resulting from lack of amniotic fluid (fluid surrounding the baby in the uterus) | – |
| Phenotype | Observable characteristics of an organism that result from the interaction of its genotype with the environment | Behaviour, biochemical properties, color, shape, and size |
| Polydactyly | A condition where someone is born with one or more extra fingers or toes | – |
| Polymicrogyria | A condition characterized by abnormal development of the brain before birth. The brain develops too many folds, and the folds are unusually small | – |
| Pulmonary hypoplasia | Incomplete development of the lungs, resulting in an abnormally low number or size of bronchopulmonary segments or alveoli | – |
| Retrognathia | A condition in which the lower jaw is set further back than the upper jaw | |
| Sagittal plane | Parallel to the longitudinal axis of the organism, or from the mouth to the tail | – |
| Short gut syndrome | Malabsorption disorder caused by a lack of functional small intestine | – |
| Syndactyly | Term used to describe webbed or conjoined digits (fingers or toes) | – |
| Synostosis | Union or fusion between adjacent bones | Radioulnar synosthosis |
| Teratogenic (cause) | A drug or other substance capable of interfering with the development of a fetus, causing birth defects | Alcohol, chemicals, and radiation exposure |
| Tethered cords | A condition in which the spinal cord is “stuck” to a structure within the spine, limiting the movement of the spinal cord within the spinal column | |
| Whole exome sequence | Genomic technique for sequencing all of the protein‐coding region of genes in a genome | |
| Whole genome sequence | The process of determining the complete DNA sequence of an organism's genome |