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Definition
 
enEnglish
Congenital Abnormalities definition: Malformations of organs or body parts during development in utero.
Congenital Abnormality definition: Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period.
Chromosome Aberrations definition: Abnormal number or structure of chromosomes. Many chromosome aberrations, but not all, are the cause of CHROMOSOME DISORDERS.
chromosome aberration definition: irregularity in the number or structure of chromosomes that may alter the course of development.
Cytogenetic Abnormality definition: An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material.
chromosome disorder definition: clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material, either a whole chromosome or a chromosome segment.
Chromosome Disorders definition: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Eye Abnormalities definition: Congenital absence of or defects in structures of the eye; may also be hereditary.
congenital eye disorder definition: absence of or defects in structures of the eye that exist at, and usually before, birth regardless of their causation.
Heart Defects, Congenital definition: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
Jaw Abnormalities definition: Congenital absence of or defects in structures of the jaw.
Mouth Abnormalities definition: Congenital absence of or defects in structures of the mouth.
Situs Inversus definition: A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inversus has a familial pattern and has been associated with a number of genes related to microtubule-associated proteins.
heterotaxia syndrome definition: A laterization defect marked by asymmetric position of visceral organs usually occurring as a component of a wide variety of abnormalities. Transposition may be complete, with the heart, lungs and all abdominal organs reversed, or incomplete, manifesting itself as a simple reversal of the stomach or spleen. Associated malformations are variable and may include tetralogy of Fallot, transposition of great vessels, pulmonary valve stenosis, ventricular and atrial septal defects, asplenia-polysplenia. and other defects.
Skin Abnormalities definition: Congenital structural abnormalities of the skin.
congenital skin disorder definition: structural abnormalities of the skin that exist at, and usually before, birth regardless of their causation.
Tooth Abnormalities definition: Congenital absence of or defects in structures of the teeth.
congenital dentition disorder definition: disorders of the dental system that exist at, and usually before, birth regardless of their causation.
Urogenital Abnormalities definition: Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.
Musculoskeletal Abnormalities definition: Congenital structural abnormalities and deformities of the musculoskeletal system.
Cardiovascular Abnormalities definition: Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.
Molecular Abnormality definition: Abnormalities that occur in human cells and tissues and models of human cancer.
Craniofacial Abnormalities definition: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Lymphatic Abnormalities definition: Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels.
Maxillofacial Abnormalities definition: Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.
Gait Disturbance definition: A finding referring to walking difficulties.
Molecular Genetic Abnormality definition: Any alteration in the inherited nucleic acid sequence of the genotype of an organism.
Abnormality definition: A condition that differs from the usual physical or mental state.
Deletion Abnormality definition: Loss of a genomic DNA sequence. The extent of a deletion ranges from the loss of a single nucleotide to the loss of a substantial portion of an entire chromosome. Thus, deletions may alter the function of a single gene or multiple genes.
Mutation Abnormality definition: A general term referring to single or multiple alterations in the genetic material of an organism that ranges from a single base change in a gene to the loss or addition of complete chromosomes. A mutation abnormality may be heritable or occur somatically.
Torsion Abnormality definition: An abnormal twisting or rotation of a bodily part or member on its axis.
abnormality definition: [1] Abweichung, Regelwidrigkeit, Abnormität, Abartigkeit [2] (medizinisch) Missbildung
 
 
frFrench
anormalité definition: État de ce qui est anormal.