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Birth defect

Index Birth defect

A birth defect, also known as a congenital disorder, is a condition present at birth regardless of its cause. [1]

226 relations: Abdominal wall defect, Abortion, Achondroplasia, Acne, Advanced maternal age, Agenesis of the corpus callosum, Alcoholic drink, Amelia (birth defect), Aminopterin, Amniotic band constriction, Androgen, Anencephaly, Anophthalmia, Antibiotic, Anticonvulsant, Antiemetic, Antifolate, Apert syndrome, Aplasia, Assistive technology, Ataxia, Atomic bombings of Hiroshima and Nagasaki, Atresia, Atrial septal defect, Atrioventricular septal defect, Autism, Autosome, Bacteria, Birth, Blood vessel, Bone, Brachydactyly, Brain tumor, Carbamazepine, Cataract, Centers for Disease Control and Prevention, Cerebral palsy, Chemotherapy, Chernobyl, Chernobyl liquidators, Chiari malformation, Childbirth, Childhood obesity, Chorioretinitis, Chromosome abnormality, Clear-cell adenocarcinoma of the vagina, Cleft lip and cleft palate, Cleidocranial dysostosis, Clinodactyly, Congenital heart defect, ..., Congenital hypothyroidism, Conjoined twins, Craniosynostosis, Cystic fibrosis, Cytomegalovirus, Dandy–Walker syndrome, DDT, Deformity, Degenerative disease, Dentin, Developmental disability, Diabetes mellitus, Diaphragmatic hernia, Diethylstilbestrol, Disability, Down syndrome, Drinking water, Drugs in pregnancy, Duchenne muscular dystrophy, Ductus arteriosus, Dwarfism, Dysmelia, Dysplasia, Ectrodactyly, Edwards syndrome, Embryo, Encephalocele, Encephalopathy, Endocrine disruptor, Environmental justice, Environmental toxicants and fetal development, Epispadias, Esophageal atresia, Estrogen, Ethanol, Female reproductive system, Fetal alcohol spectrum disorder, Fetal hydantoin syndrome, Fetal trimethadione syndrome, Fetus, Folate, Folate deficiency, Functional disorder, Gas chromatography–mass spectrometry, Gastrointestinal tract, Gastroschisis, Gene, Gene mapping, Genetic disorder, Genetics, Germ cell, Gestational diabetes, Glossoptosis, Hepatosplenomegaly, Heredity, Herpes simplex virus, Hibakusha, Hip dysplasia, Hirschsprung's disease, Holoprosencephaly, Hormonal contraception, Human tooth development, Hydrocephalus, Hyperthermia, Hypnotic, Hypoplasia, Hypoplastic left heart syndrome, Hypospadias, Hypoxia (medical), ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities, Idiopathic disease, Inborn errors of metabolism, Infection, Intellectual disability, Intelligence quotient, Intercurrent disease in pregnancy, Isotretinoin, Karolinum Press, Kernicterus, Lead poisoning, Leprosy, Leukemia, Lipari Landfill, Lissencephaly, List of cancer clusters, List of congenital disorders, List of ICD-9 codes 740–759: congenital anomalies, Love Canal, Lymphocyte, Lymphoma, Malformative syndrome, March of Dimes, Meckel's diverticulum, Medical genetics, Megalencephaly, Metabolic disorder, Metacarpal bones, Metatarsal bones, Microcephaly, Microphthalmia, Minisatellite, Minor physical anomalies, Miscarriage, Mitochondrial disease, Multiple myeloma, Multivitamin, Mutation, Neural crest, Neural tube, Neural tube defect, Newborn screening, Norman Gregg, Nuchal scan, Obstetric ultrasonography, Oligodactyly, Oligohydramnios, Omphalocele, Organ of Corti, Oxidative stress, Parasitism, Patau syndrome, Patent ductus arteriosus, Pediatrics, Perinatal mortality, Petechia, Phenytoin, Phocomelia, Physical disability, Polydactyly, Polymelia, Polymicrogyria, Polysyndactyly, Potter sequence, Pregnancy, Prenatal testing, Progestin, Pyloric stenosis, Radiation therapy, Renal agenesis, Retinoic acid, Rubella, Sacral dimple, Sequence (medicine), Small for gestational age, Smoking, Socioeconomic status, Spina bifida, Statistical significance, Stenosis, Supernumerary body part, Syndactyly, Syndrome, Syphilis, Tandem mass spectrometry, Teratology, Tetracycline, Tetralogy of Fallot, Thalidomide, Therapeutic abortion, Therapy, Tobacco smoking, Tooth enamel, Toxicity, Toxoplasmosis, Transdermal, Transmission (medicine), Trimethadione, Twin, Uterus, Valproate, Ventricular septal defect, Vertically transmitted infection, Virus, Vitamin A, William McBride (doctor), 3D ultrasound. Expand index (176 more) »

Abdominal wall defect

Abdominal wall defects are a type of congenital defect that allows the stomach, the intestines, or other organs to protrude through an unusual opening that forms on the abdomen.

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Abortion is the ending of pregnancy by removing an embryo or fetus before it can survive outside the uterus.

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Achondroplasia is a genetic disorder that results in dwarfism.

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Acne, also known as acne vulgaris, is a long-term skin disease that occurs when hair follicles are clogged with dead skin cells and oil from the skin.

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Advanced maternal age

Advanced maternal age, in a broad sense, is the instance of a woman being of an older age at a stage of reproduction, although there are various definitions of specific age and stage of reproduction.

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Agenesis of the corpus callosum

Agenesis of the corpus callosum (ACC) is a rare birth defect (congenital disorder) in which there is a complete or partial absence of the corpus callosum.

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Alcoholic drink

An alcoholic drink (or alcoholic beverage) is a drink that contains ethanol, a type of alcohol produced by fermentation of grains, fruits, or other sources of sugar.

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Amelia (birth defect)

Amelia (from Greek ἀ- "lack of" plus μέλος (plural: μέλεα or μέλη) "limb") is the birth defect of lacking one or more limbs.

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Aminopterin (or 4-aminopteroic acid), the 4-amino derivative of folic acid, is an antineoplastic drug with immunosuppressive properties often used in chemotherapy.

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Amniotic band constriction

Amniotic band constriction (also known as "amniotic band syndrome", "ADAM complex", "Amniotic band sequence", "Congenital constriction bands" and "Pseudoainhum") is a congenital disorder caused by entrapment of fetal parts (usually a limb or digits) in fibrous amniotic bands while in utero.

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An androgen (from Greek andr-, the stem of the word meaning "man") is any natural or synthetic steroid hormone which regulates the development and maintenance of male characteristics in vertebrates by binding to androgen receptors.

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Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development.

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Anophthalmia, (Greek: ανόφθαλμος, "without eye"), is the medical term for the absence of one or both eyes.

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An antibiotic (from ancient Greek αντιβιοτικά, antibiotiká), also called an antibacterial, is a type of antimicrobial drug used in the treatment and prevention of bacterial infections.

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Anticonvulsants (also commonly known as antiepileptic drugs or as antiseizure drugs) are a diverse group of pharmacological agents used in the treatment of epileptic seizures.

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An antiemetic is a drug that is effective against vomiting and nausea.

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Antifolates are a class of antimetabolite medications that antagonise (that is, block) the actions of folic acid (vitamin B9).

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Apert syndrome

Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet.

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Aplasia (from Greek a (not, no); plasis (molding)) is defined in general as "defective development or congenital absence of an organ or tissue." In the field of hematology, the term refers to "incomplete, retarded, or defective development, or cessation of the usual regenerative process.".

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Assistive technology

Assistive technology is an umbrella term that includes assistive, adaptive, and rehabilitative devices for people with disabilities while also including the process used in selecting, locating, and using them.

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Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that includes gait abnormality.

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Atomic bombings of Hiroshima and Nagasaki

During the final stage of World War II, the United States detonated two nuclear weapons over the Japanese cities of Hiroshima and Nagasaki on August 6 and 9, 1945, respectively.

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Atresia is a condition in which an orifice or passage in the body is (usually abnormally) closed or absent.

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Atrial septal defect

Atrial septal defect (ASD) is a heart defect in which blood flows between the atria (upper chambers) of the heart.

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Atrioventricular septal defect

Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), also known as "common atrioventricular canal" (CAVC) or "endocardial cushion defect" (ECD), is characterized by a deficiency of the atrioventricular septum of the heart.

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Autism is a developmental disorder characterized by troubles with social interaction and communication and by restricted and repetitive behavior.

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An autosome is a chromosome that is not an allosome (a sex chromosome).

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Bacteria (common noun bacteria, singular bacterium) is a type of biological cell.

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Birth is the act or process of bearing or bringing forth offspring.

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Blood vessel

The blood vessels are the part of the circulatory system, and microcirculation, that transports blood throughout the human body.

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A bone is a rigid organ that constitutes part of the vertebrate skeleton.

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Brachydactyly (Greek βραχύς.

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Brain tumor

A brain tumor occurs when abnormal cells form within the brain.

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Carbamazepine (CBZ), sold under the tradename Tegretol, among others, is a medication used primarily in the treatment of epilepsy and neuropathic pain.

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A cataract is a clouding of the lens in the eye which leads to a decrease in vision.

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Centers for Disease Control and Prevention

The Centers for Disease Control and Prevention (CDC) is the leading national public health institute of the United States.

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Cerebral palsy

Cerebral palsy (CP) is a group of permanent movement disorders that appear in early childhood.

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Chemotherapy (often abbreviated to chemo and sometimes CTX or CTx) is a type of cancer treatment that uses one or more anti-cancer drugs (chemotherapeutic agents) as part of a standardized chemotherapy regimen.

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Chernobyl or Chornobyl (Chornobyl′,;; Charnobyl′) is a city in the restricted Chernobyl Exclusion Zone situated in the Ivankiv Raion of northern Kiev Oblast, near Ukraine's border with Belarus.

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Chernobyl liquidators

Liquidators were the civil and military personnel who were called upon to deal with consequences of the 1986 Chernobyl nuclear disaster in the Soviet Union on the site of the event.

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Chiari malformation

Chiari malformations (CMs) are structural defects in the cerebellum.

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Childbirth, also known as labour and delivery, is the ending of a pregnancy by one or more babies leaving a woman's uterus by vaginal passage or C-section.

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Childhood obesity

Childhood obesity is a condition where excess body fat negatively affects a child's health or well-being.

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Chorioretinitis is an inflammation of the choroid (thin pigmented vascular coat of the eye) and retina of the eye.

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Chromosome abnormality

A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA.

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Clear-cell adenocarcinoma of the vagina

Clear-cell adenocarcinoma (CCA) of the vagina or cervix is a rare adenocarcinoma often linked to prenatal exposure to diethylstilbestrol (DES), a drug which was prescribed in high-risk pregnancy.

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Cleft lip and cleft palate

Cleft lip and cleft palate, also known as orofacial cleft, is a group of conditions that includes cleft lip (CL), cleft palate (CP), and both together (CLP).

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Cleidocranial dysostosis

Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth.

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Clinodactyly (from the Ancient Greek κλίνειν klínein meaning "to bend" and δάκτυλος dáktulos meaning "digit") is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger").

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Congenital heart defect

A congenital heart defect (CHD), also known as a congenital heart anomaly or congenital heart disease, is a problem in the structure of the heart that is present at birth.

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Congenital hypothyroidism

Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth.

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Conjoined twins

Conjoined twins are identical twins joined in utero.

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Craniosynostosis (from cranio, cranium; + syn, together; + ostosis relating to bone) is a condition in which one or more of the fibrous sutures in an infant (very young) skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull.

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Cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.

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Cytomegalovirus (CMV) (from the Greek cyto-, "cell", and megalo-, "large") is a genus of viruses in the order Herpesvirales, in the family Herpesviridae, in the subfamily Betaherpesvirinae.

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Dandy–Walker syndrome

Dandy–Walker syndrome (DWS) is a rare group of congenital human brain malformations.

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Dichlorodiphenyltrichloroethane, commonly known as DDT, is a colorless, tasteless, and almost odorless crystalline chemical compound, an organochlorine, originally developed as an insecticide, and ultimately becoming infamous for its environmental impacts.

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A deformity, dysmorphism, or dysmorphic feature is a major abnormality in the shape of a body part or organ compared to the normal shape of that part.

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Degenerative disease

Degenerative disease is the result of a continuous process based on degenerative cell changes, affecting tissues or organs, which will increasingly deteriorate over time, whether due to normal bodily wear or lifestyle choices such as exercise or eating habits.

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Dentin (American English) or dentine (British English) (substantia eburnea) is a calcified tissue of the body and, along with enamel, cementum, and pulp, is one of the four major components of teeth.

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Developmental disability

Developmental disability is a diverse group of chronic conditions that are due to mental or physical impairments that arise before adulthood.

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Diabetes mellitus

Diabetes mellitus (DM), commonly referred to as diabetes, is a group of metabolic disorders in which there are high blood sugar levels over a prolonged period.

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Diaphragmatic hernia

Diaphragmatic hernia is a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity.

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Diethylstilbestrol (DES), also known as stilbestrol or stilboestrol, is an estrogen medication which is mostly no longer used.

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A disability is an impairment that may be cognitive, developmental, intellectual, mental, physical, sensory, or some combination of these.

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Down syndrome

Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.

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Drinking water

Drinking water, also known as potable water, is water that is safe to drink or to use for food preparation.

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Drugs in pregnancy

Drugs in pregnancy can be either pharmaceutical or recreational and can have temporary or permanent effects on the fetus.

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Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy.

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Ductus arteriosus

In the developing fetus, the ductus arteriosus, also called the ductus Botalli, is a blood vessel connecting the main pulmonary artery to the proximal descending aorta.

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Dwarfism, also known as short stature, occurs when an organism is extremely small.

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Dysmelia (from Gr. δυσ- dys, "bad" + μέλ|ος mél|os, "limb" + Eng. suff. -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development.

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Dysplasia (from Ancient Greek δυσ- dys-, "bad" or "difficult" and πλάσις plasis, "formation") is a term used in pathology to refer to an abnormality of development or an epithelial anomaly of growth and differentiation (epithelial dysplasia).

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Ectrodactyly, split hand, cleft hand, derived from the Greek ektroma (abortion) and daktylos (finger) involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM).

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Edwards syndrome

Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of all, or part of a third copy of chromosome 18.

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An embryo is an early stage of development of a multicellular diploid eukaryotic organism.

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Encephalocele, sometimes known as cranium bifidum, is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.

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Encephalopathy (from ἐγκέφαλος "brain" + πάθος "suffering") means any disorder or disease of the brain, especially chronic degenerative conditions.

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Endocrine disruptor

Endocrine disruptors are chemicals that can interfere with endocrine (or hormone) systems at certain doses.

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Environmental justice

Environmental justice emerged as a concept in the United States in the early 1980s.

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Environmental toxicants and fetal development

Environmental toxicants and fetal development is the impact of different toxic substances from the environment on the development of the fetus.

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An epispadias is a rare type of malformation of the penis in which the urethra ends in an opening on the upper aspect of the penis.

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Esophageal atresia

Esophageal atresia is a congenital medical condition (birth defect) that affects the alimentary tract. It causes the esophagus to end in a blind-ended pouch rather than connecting normally to the stomach. It comprises a variety of congenital anatomic defects that are caused by an abnormal embryological development of the esophagus. It is characterized anatomically by a congenital obstruction of the esophagus with interruption of the continuity of the esophageal wall.

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Estrogen, or oestrogen, is the primary female sex hormone.

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Ethanol, also called alcohol, ethyl alcohol, grain alcohol, and drinking alcohol, is a chemical compound, a simple alcohol with the chemical formula.

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Female reproductive system

The female reproductive system is made up of the internal and external sex organs that function in reproduction of new offspring.

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Fetal alcohol spectrum disorder

Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy.

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Fetal hydantoin syndrome

Fetal hydantoin syndrome, also called fetal dilantin syndrome is a group of defects caused to the developing fetus by exposure to teratogenic effects of phenytoin or carbamazepine.

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Fetal trimethadione syndrome

Fetal trimethadione syndrome (also known as paramethadione syndrome, German syndrome, tridione syndrome, among others) is a set of birth defects caused by the administration of the anticonvulsants trimethadione (also known as Tridione) or paramethadione to epileptic mothers during pregnancy.

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A fetus is a stage in the prenatal development of viviparous organisms.

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Folate, distinct forms of which are known as folic acid, folacin, and vitamin B9, is one of the B vitamins.

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Folate deficiency

Folate deficiency is a low level of folic acid and derivatives in the body.

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Functional disorder

A functional disorder is a medical condition that impairs normal functioning of bodily processes that remains largely undetected under examination, dissection or even under a microscope.

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Gas chromatography–mass spectrometry

Gas chromatography–mass spectrometry (GC-MS) is an analytical method that combines the features of gas-chromatography and mass spectrometry to identify different substances within a test sample.

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Gastrointestinal tract

The gastrointestinal tract (digestive tract, digestional tract, GI tract, GIT, gut, or alimentary canal) is an organ system within humans and other animals which takes in food, digests it to extract and absorb energy and nutrients, and expels the remaining waste as feces.

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Gastroschisis is a birth defect in which the baby's intestines extend outside of the body through a hole next to the belly button.

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In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.

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Gene mapping

Gene mapping describes the methods used to identify the locus of a gene and the distances between genes.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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Genetics is the study of genes, genetic variation, and heredity in living organisms.

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Germ cell

A germ cell is any biological cell that gives rise to the gametes of an organism that reproduces sexually.

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Gestational diabetes

Gestational diabetes is a condition in which a woman without diabetes develops high blood sugar levels during pregnancy.

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Glossoptosis is a medical condition and abnormality which involves the downward displacement or retraction of the tongue.

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Hepatosplenomegaly (commonly abbreviated HSM) is the simultaneous enlargement of both the liver (hepatomegaly) and the spleen (splenomegaly).

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Heredity is the passing on of traits from parents to their offspring, either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents.

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Herpes simplex virus

Herpes simplex virus 1 and 2 (HSV-1 and HSV-2), also known as human herpesvirus 1 and 2 (HHV-1 and HHV-2), are two members of the herpesvirus family, Herpesviridae, that infect humans.

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is the Japanese word for the surviving victims of the 1945 atomic bombings of Hiroshima and Nagasaki.

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Hip dysplasia

Hip dysplasia is an abnormality of the hip joint where the socket portion does not fully cover the ball portion, resulting in an increased risk for joint dislocation.

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Hirschsprung's disease

Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine.

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Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres.

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Hormonal contraception

Hormonal contraception refers to birth control methods that act on the endocrine system.

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Human tooth development

Tooth development or odontogenesis is the complex process by which teeth form from embryonic cells, grow, and erupt into the mouth.

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Hydrocephalus is a condition in which there is an accumulation of cerebrospinal fluid (CSF) within the brain.

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Hyperthermia is elevated body temperature due to failed thermoregulation that occurs when a body produces or absorbs more heat than it dissipates.

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Hypnotic (from Greek Hypnos, sleep) or soporific drugs, commonly known as sleeping pills, are a class of psychoactive drugs whose primary function is to induce sleep and to be used in the treatment of insomnia (sleeplessness), or surgical anesthesia.

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Hypoplasia (from Ancient Greek ὑπo- hypo-, "under" + πλάσις plasis, "formation"; adjective form hypoplastic) is underdevelopment or incomplete development of a tissue or organ.

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Hypoplastic left heart syndrome

Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped.

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Hypospadias is a congenital disorder of the urethra where the urinary opening is not at the usual location on the head of the penis.

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Hypoxia (medical)

Hypoxia is a condition in which the body or a region of the body is deprived of adequate oxygen supply at the tissue level.

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ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities

ICD-10 is an international statistical classification used in health care and related industries.

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Idiopathic disease

An idiopathic disease is any disease with an unknown cause or mechanism of apparently spontaneous origin.

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Inborn errors of metabolism

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.

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Infection is the invasion of an organism's body tissues by disease-causing agents, their multiplication, and the reaction of host tissues to the infectious agents and the toxins they produce.

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Intellectual disability

Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.

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Intelligence quotient

An intelligence quotient (IQ) is a total score derived from several standardized tests designed to assess human intelligence.

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Intercurrent disease in pregnancy

An intercurrent (or concurrent, concomitant or, in most cases, pre-existing) disease in pregnancy is a disease that is not directly caused by the pregnancy (in contrast to a complication of pregnancy), but which may become worse or be a potential risk to the pregnancy (such as causing pregnancy complications).

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Isotretinoin, also known as 13-cis-retinoic acid (and colloquially referred to by its former brand name Accutane or Roaccutane), is a medication primarily used to treat severe acne.

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Karolinum Press

Karolinum Press is the university press of Charles University in Prague.

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Kernicterus is a bilirubin-induced brain dysfunction.

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Lead poisoning

Lead poisoning is a type of metal poisoning caused by lead in the body.

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Leprosy, also known as Hansen's disease (HD), is a long-term infection by the bacterium Mycobacterium leprae or Mycobacterium lepromatosis.

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Leukemia, also spelled leukaemia, is a group of cancers that usually begin in the bone marrow and result in high numbers of abnormal white blood cells.

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Lipari Landfill

The Lipari Landill is an inactive landfill on a former gravel pit in Mantua Township, New Jersey, United States, that was used from 1958 to 1971 as a dump site for household and industrial wastes.

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Lissencephaly is a set of rare brain disorders where the whole or parts of the surface of the brain appear smooth.

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List of cancer clusters

This is a list of cancer clusters.

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List of congenital disorders

List of congenital disorders.

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List of ICD-9 codes 740–759: congenital anomalies


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Love Canal

Love Canal is a neighborhood within Niagara Falls, New York.

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A lymphocyte is one of the subtypes of white blood cell in a vertebrate's immune system.

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Lymphoma is a group of blood cancers that develop from lymphocytes (a type of white blood cell).

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Malformative syndrome

A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).

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March of Dimes

March of Dimes is a United States nonprofit organization that works to improve the health of mothers and babies by preventing birth defects, premature birth and infant mortality.

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Meckel's diverticulum

A Meckel's diverticulum, a true congenital diverticulum, is a slight bulge in the small intestine present at birth and a vestigial remnant of the omphalomesenteric duct (also called the vitelline duct or yolk stalk).

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Medical genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

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Megalencephaly (or macrencephaly; abbreviated MEG) is a growth development disorder in which the brain is abnormally large.

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Metabolic disorder

A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process.

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Metacarpal bones

In human anatomy, the metacarpal bones or metacarpus, form the intermediate part of the skeletal hand located between the phalanges of the fingers and the carpal bones of the wrist which forms the connection to the forearm.

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Metatarsal bones

The metatarsal bones, or metatarsus are a group of five long bones in the foot, located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes.

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Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.

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Microphthalmia (Greek: μικρός micros.

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A minisatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 10–60 base pairs) are typically repeated 5-50 times.

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Minor physical anomalies

Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue.

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Miscarriage, also known as spontaneous abortion and pregnancy loss, is the natural death of an embryo or fetus before it is able to survive independently.

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Mitochondrial disease

Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell.

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Multiple myeloma

Multiple myeloma, also known as plasma cell myeloma, is a cancer of plasma cells, a type of white blood cell normally responsible for producing antibodies.

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A multivitamin is a preparation intended to serve as a dietary supplement - with vitamins, dietary minerals, and other nutritional elements.

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In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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Neural crest

Neural crest cells are a temporary group of cells unique to chordates of the group Cristozoa that arise from the embryonic ectoderm cell layer, and in turn give rise to a diverse cell lineage—including melanocytes, craniofacial cartilage and bone, smooth muscle, peripheral and enteric neurons and glia.

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Neural tube

In the developing chordate (including vertebrates), the neural tube is the embryonic precursor to the central nervous system, which is made up of the brain and spinal cord.

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Neural tube defect

Neural tube defects (NTDs) are a group of birth defects in which an opening in the spinal cord or brain remains from early in human development.

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Newborn screening

Newborn screening is a public health program of screening in infants shortly after birth for a list of conditions that are treatable, but not clinically evident in the newborn period.

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Norman Gregg

Sir Norman McAlister Gregg, (7 March 1892 – 27 July 1966) was an Australian ophthalmologist, who discovered that rubella suffered by a pregnant woman could cause birth defects in her child (congenital rubella syndrome).

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Nuchal scan

A nuchal scan or nuchal translucency (NT) scan/procedure is a sonographic prenatal screening scan (ultrasound) to detect cardiovascular abnormalities in a fetus, though altered extracellular matrix composition and limited lymphatic drainage can also be detected.

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Obstetric ultrasonography

Obstetric ultrasonography is the use of medical ultrasonography in pregnancy, in which sound waves are used to create real-time visual images of the developing embryo or fetus in its mother's uterus (womb).

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Oligodactyly (from the Ancient Greek oligos meaning "few" and δάκτυλος daktylos meaning "finger") is the presence of fewer than five fingers or toes on a hand or foot.

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Oligohydramnios is a condition in pregnancy characterized by a deficiency of amniotic fluid.

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Omphalocele, also called exomphalos, is a rare abdominal wall defect in which the intestines, liver and occasionally other organs remain outside of the abdomen in a sac because of failure of the normal return of intestines and other contents back to the abdominal cavity during around the ninth week of intrauterine development.

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Organ of Corti

The organ of Corti, or spiral organ, is the receptor organ for hearing and is located in the mammalian cochlea.

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Oxidative stress

Oxidative stress reflects an imbalance between the systemic manifestation of reactive oxygen species and a biological system's ability to readily detoxify the reactive intermediates or to repair the resulting damage.

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In evolutionary biology, parasitism is a relationship between species, where one organism, the parasite, lives on or in another organism, the host, causing it some harm, and is adapted structurally to this way of life.

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Patau syndrome

Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13.

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Patent ductus arteriosus

Patent ductus arteriosus (PDA) is a condition wherein the ductus arteriosus fails to close after birth.

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Pediatrics (also spelled paediatrics or pædiatrics) is the branch of medicine that involves the medical care of infants, children, and adolescents.

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Perinatal mortality

Perinatal mortality (PNM), also perinatal death, refers to the death of a fetus or neonate and is the basis to calculate the perinatal mortality rate.

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A petechia, plural petechiae, is a small (1–2 mm) red or purple spot on the skin, caused by a minor bleed from broken capillary blood vessels.

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Phenytoin (PHT), sold under the brand name Dilantin among others, is an anti-seizure medication.

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Phocomelia is a condition that involves malformations of the arms and legs.

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Physical disability

A physical disability is a limitation on a person's physical functioning, mobility, dexterity or stamina.

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Polydactyly or polydactylism, also known as hyperdactyly, is a congenital physical anomaly in humans and animals resulting in supernumerary fingers and/or toes.

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Polymelia (from Greek πολυ- "many", μέλεα "limbs"), also known as hydra syndrome, is a birth defect involving limbs (a type of dysmelia), in which the affected individual has more than the usual number of limbs.

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Polymicrogyria (PMG) is a condition that affects the development of the human brain by multiple small gyri (microgyri) creating excessive folding of the brain leading to an abnormally thick cortex.

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Polysyndactyly is an hereditary anatomical malformation combining polydactyly and syndactyly.

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Potter sequence

Potter sequence is the atypical physical appearance of a baby due to oligohydramnios experienced when in the uterus.

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Pregnancy, also known as gestation, is the time during which one or more offspring develops inside a woman.

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Prenatal testing

Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible.

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A progestin is a type of medication which is used most commonly in hormonal birth control and menopausal hormone therapy.

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Pyloric stenosis

Pyloric stenosis is a narrowing of the opening from the stomach to the first part of the small intestine (the pylorus).

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Radiation therapy

Radiation therapy or radiotherapy, often abbreviated RT, RTx, or XRT, is therapy using ionizing radiation, generally as part of cancer treatment to control or kill malignant cells and normally delivered by a linear accelerator.

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Renal agenesis

Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop.

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Retinoic acid

Retinoic acid is a metabolite of vitamin A (retinol) that mediates the functions of vitamin A required for growth and development.

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Rubella, also known as German measles or three-day measles, is an infection caused by the rubella virus.

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Sacral dimple

A sacral dimple (also termed pilonidal dimple or spinal dimple) is a small depression in the skin, located just above the buttocks.

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Sequence (medicine)

In medicine, a sequence is a series of ordered consequences due to a single cause.

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Small for gestational age

Small for gestational age (SGA) newborns are those who are smaller in size than normal for the gestational age, most commonly defined as a weight below the 10th percentile for the gestational age.

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Smoking is a practice in which a substance is burned and the resulting smoke breathed in to be tasted and absorbed into the bloodstream.

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Socioeconomic status

Socioeconomic status (SES) is an economic and sociological combined total measure of a person's work experience and of an individual's or family's economic and social position in relation to others, based on income, education, and occupation.

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Spina bifida

Spina bifida is a birth defect where there is incomplete closing of the backbone and membranes around the spinal cord.

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Statistical significance

In statistical hypothesis testing, a result has statistical significance when it is very unlikely to have occurred given the null hypothesis.

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A stenosis is an abnormal narrowing in a blood vessel or other tubular organ or structure.

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Supernumerary body part

Supernumerary body parts are most commonly a congenital disorder involving the growth of an additional part of the body and a deviation from the body plan.

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Syndactyly (from Greek συν- meaning "together" and δακτυλος meaning "finger") is a condition wherein two or more digits are fused together.

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A syndrome is a set of medical signs and symptoms that are correlated with each other and, often, with a particular disease or disorder.

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Syphilis is a sexually transmitted infection caused by the bacterium Treponema pallidum subspecies pallidum.

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Tandem mass spectrometry

Tandem mass spectrometry, also known as MS/MS or MS2, involves multiple steps of mass spectrometry selection, with some form of fragmentation occurring in between the stages.

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Teratology is the study of abnormalities of physiological development.

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Tetracycline, sold under the brand name Sumycin among others, is an antibiotic used to treat a number of infections.

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Tetralogy of Fallot

Tetralogy of Fallot (TOF) is a type of heart defect present at birth.

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Thalidomide, sold under the brand name Immunoprin, among others, is an immunomodulatory drug and the prototype of the thalidomide class of drugs.

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Therapeutic abortion

Therapeutic abortion is abortion induced following a diagnosis of medical necessity.

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Therapy (often abbreviated tx, Tx, or Tx) is the attempted remediation of a health problem, usually following a diagnosis.

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Tobacco smoking

Tobacco smoking is the practice of smoking tobacco and inhaling tobacco smoke (consisting of particle and gaseous phases).

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Tooth enamel

Tooth enamel is one of the four major tissues that make up the tooth in humans and many other animals, including some species of fish.

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Toxicity is the degree to which a chemical substance or a particular mixture of substances can damage an organism.

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Toxoplasmosis is a parasitic disease caused by Toxoplasma gondii.

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Transdermal is a route of administration wherein active ingredients are delivered across the skin for systemic distribution.

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Transmission (medicine)

In medicine, public health, and biology, transmission is the passing of a pathogen causing communicable disease from an infected host individual or group to a particular individual or group, regardless of whether the other individual was previously infected.

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Trimethadione is an oxazolidinedione anticonvulsant.

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Twins are two offspring produced by the same pregnancy.

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The uterus (from Latin "uterus", plural uteri) or womb is a major female hormone-responsive secondary sex organ of the reproductive system in humans and most other mammals.

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Valproate (VPA), and its valproic acid, sodium valproate, and valproate semisodium forms, are medications primarily used to treat epilepsy and bipolar disorder and to prevent migraine headaches.

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Ventricular septal defect

A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart.

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Vertically transmitted infection

A vertically transmitted infection is an infection caused by pathogens (such as bacteria and viruses) that uses mother-to-child transmission, that is, transmission directly from the mother to an embryo, fetus, or baby during pregnancy or childbirth.

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A virus is a small infectious agent that replicates only inside the living cells of other organisms.

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Vitamin A

Vitamin A is a group of unsaturated nutritional organic compounds that includes retinol, retinal, retinoic acid, and several provitamin A carotenoids (most notably beta-carotene).

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William McBride (doctor)


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3D ultrasound

3D ultrasound is a medical ultrasound technique, often used in fetal, cardiac, trans-rectal and intra-vascular applications.

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[1] https://en.wikipedia.org/wiki/Birth_defect

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