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

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

ICD-10 is an international statistical classification used in health care and related industries. [1]

541 relations: Aarskog–Scott syndrome, Abdominal wall, Abnormality (behavior), Accessory auricle, Accessory breast, Accessory muscle, Accessory pancreas, Achondrogenesis, Achondroplasia, Acrania, Acrocephalosyndactylia, Adrenal gland, Agenesis, Aglossia, Alagille syndrome, Alport syndrome, Amastia, Amelia (birth defect), Anencephaly, Aneuploidy, Aneurysm of sinus of Valsalva, Angelman syndrome, Aniridia, Ankyloglossia, Annular pancreas, Anomalous pulmonary venous connection, Anonychia, Anophthalmia, Anterior segment of eyeball, Anus, Aorta, Aortic insufficiency, Aortic stenosis, Aortopulmonary septal defect, Aortopulmonary window, Aphakia, Aplasia, Arm, Arteriovenous malformation, Arthrogryposis, Asphyxiating thoracic dysplasia, Asplenia, Athelia (disease), Atresia, Atrial septal defect, Atrioventricular, Atrioventricular septal defect, Autosome, Bardet–Biedl syndrome, Beckwith–Wiedemann syndrome, ..., Bicornuate uterus, Bifid rib, Bile duct, Biliary atresia, Birth defect, Birthmark, Bladder exstrophy, Blepharophimosis, Brain, Breast, Broad ligament of the uterus, Bronchiectasis, Bronchomalacia, Bronchus, Buphthalmos, Camurati–Engelmann disease, Capillary hemangioma, Cataract, Cauda equina, Cephalic disorder, Cerebral aqueduct, Cervical agenesis, Cervical rib, Cervix, Chiari malformation, Choanal atresia, Choledochal cysts, Chondrodysplasia punctata, Chondrodystrophy, Chordee, Choroid, Chromosomal fragile site, Chromosomal inversion, Chromosomal translocation, Chromosome, Chromosome 4, Chromosome 5, Chromosome abnormality, Circulatory system, Cleft lip and cleft palate, Cleidocranial dysostosis, Clitoris, Clubfoot, Coarctation of the aorta, Cockayne syndrome, Coloboma, Congenital diaphragmatic hernia, Congenital heart defect, Congenital stenosis of vena cava, Conjoined twins, Cor triatriatum, Cornelia de Lange syndrome, Coronary artery anomaly, Corpus callosum, Craniosynostosis, Cri du chat syndrome, Crouzon syndrome, Cryptorchidism, Cutis laxa, Cyclopia, Cyst, Cystic eyeball, Cystic kidney disease, Dandy–Walker syndrome, Darier's disease, Deletion (genetics), Dermatoglyphics, Dextro-Transposition of the great arteries, Dextrocardia, Diastematomyelia, Diastrophic dysplasia, Digestion, Dolichocephaly, Dolichocolon, Dominance (genetics), Double aortic arch, Double outlet right ventricle, Down syndrome, Dubowitz syndrome, Duct (anatomy), Duodenum, Duplicated ureter, Dysmorphic feature, Dysplasia, Ear, Ebstein's anomaly, Ectodermal dysplasia, Ectopia lentis, Ectrodactyly, Ectromelia, Ectropion, Edwards syndrome, Ehlers–Danlos syndromes, Eisenmenger's syndrome, Ellis–van Creveld syndrome, Encephalocele, Enchondromatosis, Endocardial cushions, Endocrine gland, Entropion, Epidermolysis bullosa, Epidermolysis bullosa dystrophica, Epidermolysis bullosa simplex, Epidermolytic hyperkeratosis, Epididymis, Epispadias, Esophageal atresia, Esophageal stricture, Esophageal web, Esophagus, EUROCAT (medicine), Exogeny, Eyelid, Face, Facial symmetry, Fallopian tube, Female, Female reproductive system, Femur, Fetal alcohol spectrum disorder, Fetal hydantoin syndrome, Fetal warfarin syndrome, Fibula, Finger, Fissure, Fistula, Flat feet, Foot, Forearm, Fragile X syndrome, Franceschetti–Klein syndrome, Frontonasal dysplasia, Functional disorder, Fundus (eye), Gallbladder, Gastrointestinal tract, Gastroschisis, Gene duplication, Genetic marker, Genu valgum, Genu varum, Glaucoma, Goldenhar syndrome, Gonadal dysgenesis, Great arteries, Great veins, Hailey–Hailey disease, Hair, Hair loss, Hand, Harlequin-type ichthyosis, Health care, Hearing, Heart, Heart block, Heinrich Albers-Schönberg, Hemimelia, Hereditary multiple exostoses, Hermaphrodite, Heterochromatin, Hiatal hernia, Hip, Hip dislocation, Hirschsprung's disease, Holoprosencephaly, Holt–Oram syndrome, Horseshoe kidney, Human brain, Human digestive system, Human eye, Human head, Human leg, Human mouth, Human musculoskeletal system, Human nose, Human penis, Hydranencephaly, Hydrocephalus, Hydrophthalmos, Hyperplasia, Hypertelorism, Hypertrophy, Hypochondrogenesis, Hypochondroplasia, Hypoglossia, Hypohidrotic ectodermal dysplasia, Hypoplasia, Hypoplastic left heart syndrome, Hypoplastic right heart syndrome, Hypospadias, ICD-10, Ichthyosis, Ichthyosis vulgaris, Ileum, Imperforate anus, Imperforate hymen, Incontinentia pigmenti, Iniencephaly, Insertion (genetics), Integument, International Statistical Classification of Diseases and Related Health Problems, Interrupted aortic arch, Intersex, Intestinal malrotation, Iris (anatomy), Jaw, Jejunum, Junctional epidermolysis bullosa (medicine), Karyotype, Keratoglobus, Kidney, Klinefelter syndrome, Klippel–Feil syndrome, Klippel–Trénaunay syndrome, Knee, Labial fusion, Lacrimal apparatus, Lacrimal canaliculi, Lamellar ichthyosis, Large intestine, Laryngocele, Laryngomalacia, Larynx, Lateral aperture, Lens (anatomy), Leukonychia, Levo-Transposition of the great arteries, Levocardia, Limb (anatomy), Lip, Lissencephaly, List of ICD-9 codes 740–759: congenital anomalies, Liver, Locus (genetics), Low-set ears, Lung, Lymphedema, Macrocephaly, Macrocheilia, Macroglossia, Macrostomia, Macrotia, Madelung's deformity, Maffucci syndrome, Male, Male reproductive system, Marfan syndrome, Mastocytosis, Möbius syndrome, McCune–Albright syndrome, Meckel syndrome, Meckel's diverticulum, Median aperture, Mediastinum, Medical classification, Megalencephaly, Megalocornea, Megaureter, Metaphyseal dysplasia, Microcephaly, Microcheilia, Microgyrus, Micromastia, Microphthalmia, Microspherophakia, Microstomia, Microtia, Mitral insufficiency, Mitral valve, Mitral valve stenosis, Monilethrix, Monorchism, Monosomy, Mosaic (genetics), Mouth, Multicystic dysplastic kidney, Multiple abnormalities, Nail (anatomy), Nail–patella syndrome, Neck, Neoplasm, Nervous system, Neurofibromatosis, Neurofibromatosis type I, Neurofibromatosis type II, Nevus, Nondisjunction, Noonan syndrome, Ollier disease, Omphalocele, Onychauxis, Optic disc, Orbit, Orofaciodigital syndrome 1, Osteochondrodysplasia, Osteodystrophy, Osteogenesis imperfecta, Osteopetrosis, Osteopoikilosis, Osteosclerosis, Ostium primum atrial septal defect, Otocephaly, Ovary, Overgrowth syndrome, Overriding aorta, Oxycephaly, Pachygyria, Pachyonychia congenita, Palate, Palmoplantar keratoderma, Pancreas, Pancreatic duct, Parathyroid gland, Patau syndrome, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pelvis, Peripartum cardiomyopathy, Peripheral vascular system, Persistent cloaca, Persistent left superior vena cava, Persistent thyroglossal duct, Persistent truncus arteriosus, Pes cavus, Phakomatosis, Pharyngeal groove, Pharyngeal pouch (embryology), Pharynx, Phocomelia, Pierre Robin syndrome, Pigeon toe, Pili annulati, Plagiocephaly, Platybasia, Poland syndrome, Polycystic kidney disease, Polycystic liver disease, Polydactyly, Polyploid, Polysyndactyly, Porencephaly, Port-wine stain, Posterior segment of eyeball, Potter sequence, Prader–Willi syndrome, Preauricular sinus and cyst, Prometaphase, Prostate, Protruding ear, Prune belly syndrome, Pseudohermaphroditism, Ptosis (eyelid), Pulmonary atresia, Pulmonary insufficiency, Pulmonary pleurae, Pulmonary sequestration, Pulmonary valve, Pulmonary valve stenosis, Pyloric stenosis, Rachischisis, Radioulnar synostosis, Radius, Rectovaginal fistula, Rectum, Renal agenesis, Renal artery, Renal artery stenosis, Renal ectopia, Renal pelvis, Respiratory system, Retina, Rib cage, Robertsonian translocation, Robinow syndrome, Rubinstein–Taybi syndrome, Salivary gland, Schizencephaly, Scimitar syndrome, Scoliosis, Scrotum, Seckel syndrome, Seminal vesicle, Septo-optic dysplasia, Septum, Sex chromosome, Sex organ, Short rib – polydactyly syndrome, Short stature, Shoulder girdle, Silver–Russell syndrome, Single transverse palmar crease, Sinus (anatomy), Sirenomelia, Situs inversus, Sjögren–Larsson syndrome, Skeleton, Skin, Skin tag, Skull, Small intestine, Small supernumerary marker chromosome, Smith–Lemli–Opitz syndrome, Sotos syndrome, Spina bifida, Spinal cord, Spleen, Splenomegaly, Spondyloepiphyseal dysplasia congenita, Spondylolisthesis, Sprengel's deformity, Stenosis, Stenosis of pulmonary artery, Sternocleidomastoid muscle, Sternum, Sturge–Weber syndrome, Subluxation, Supernumerary nipple, Syndactyly, Taussig–Bing syndrome, Testicle, Tetralogy of Fallot, Thanatophoric dysplasia, The International League of Dermatological Societies, Thigh, Thoracic diaphragm, Thorax, Thyroglossal cyst, Thyroid, Tibia, Toe, Tongue, Trachea, Tracheoesophageal fistula, Tracheomalacia, Transposition of the great vessels, Treacher Collins syndrome, Trichothiodystrophy, Tricuspid atresia, Tricuspid valve, Tricuspid valve stenosis, Trigonocephaly, Triphalangeal thumb, Triple X syndrome, Trisomy, Trisomy 8, Trisomy 9, True hermaphroditism, Tuberous sclerosis, Turner syndrome, Twin reversed arterial perfusion, Ulna, Umbilical artery, Unicornuate uterus, Upper limb, Urachal cyst, Urachus, Ureter, Urethra, Urinary bladder, Urinary system, Urticaria pigmentosa, Uterus, Uterus didelphys, VACTERL association, Vagina, Vaginal atresia, Vaginal septum, Valgus deformity, Van der Woude syndrome, Varus deformity, Vas deferens, Vascular ring, Ventricular septal defect, Vertebral column, Vitreous body, Von Hippel–Lindau disease, Vulva, Weaver syndrome, Webbed neck, Webbed toes, Williams syndrome, Wolf–Hirschhorn syndrome, World Health Organization, X chromosome, X-linked ichthyosis, Xeroderma pigmentosum, XX male syndrome, XY sex-determination system, XYY syndrome, Zellweger syndrome. Expand index (491 more) »

Aarskog–Scott syndrome

Aarskog–Scott syndrome is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies.

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Abdominal wall

In anatomy, the abdominal wall represents the boundaries of the abdominal cavity.

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Abnormality (behavior)

Abnormality (or dysfunctional behavior) is a behavioral characteristic assigned to those with conditions regarded as rare or dysfunctional.

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Accessory auricle

An accessory auricle is considered a developmental anomaly resulting from the persistence of a structure which variably recapitulates the normal external ear.

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Accessory breast

Accessory breasts, also known as polymastia, supernumerary breasts, or mammae erraticae, is the condition of having an additional breast.

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Accessory muscle

An accessory muscle is a relatively rare anatomic duplication of a muscle that may appear anywhere in the muscular system.

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Accessory pancreas

Accessory pancreas is a rare condition in which small groups of pancreatic cells are separate from the pancreas.

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Achondrogenesis

Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage).

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Achondroplasia

Achondroplasia is a genetic disorder that results in dwarfism.

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Acrania

Acrania is a rare congenital disorder that occurs in the human fetus in which the flat bones in the cranial vault are either completely or partially absent.

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Acrocephalosyndactylia

Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.

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Adrenal gland

The adrenal glands (also known as suprarenal glands) are endocrine glands that produce a variety of hormones including adrenaline and the steroids aldosterone and cortisol.

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Agenesis

In medicine, agenesis refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.

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Aglossia

Aglossia (aglossia congenita) is a congenital defect resulting in a partial development or complete absence of a tongue.

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Alagille syndrome

Alagille syndrome, Alagille-Watson syndrome or ALGS, is an autosomal dominant genetic disorder that affects the liver, heart, kidney, and other systems of the body.

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Alport syndrome

Alport syndrome is a genetic disorder affecting around 1 in 50,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss.

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Amastia

Amastia refers to a condition where breast tissue, nipple, and areola is absent, either congenitally or iatrogenically.

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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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Anencephaly

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

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Aneuploidy

Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46.

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Aneurysm of sinus of Valsalva

Aneurysm of the aortic sinus, also known as the sinus of Valsalva, is comparatively rare.

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Angelman syndrome

Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system.

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Aniridia

Aniridia is the absence of the iris, usually involving both eyes.

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Ankyloglossia

Ankyloglossia, also known as tongue-tie, is a congenital oral anomaly that may decrease mobility of the tongue tip and is caused by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth.

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Annular pancreas

Annular pancreas is a rare condition in which the second part of the duodenum is surrounded by a ring of pancreatic tissue continuous with the head of the pancreas.

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Anomalous pulmonary venous connection

Anomalous pulmonary venous connection (or anomalous pulmonary venous drainage or anomalous pulmonary venous return) is a congenital defect of the pulmonary veins.

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Anonychia

Anonychia is the absence of nails, an anomaly, which may be the result of a congenital ectodermal defect, ichthyosis, severe infection, severe allergic contact dermatitis, self-inflicted trauma, Raynaud phenomenon, lichen planus, epidermolysis bullosa, or severe exfoliative diseases.

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Anophthalmia

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

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Anterior segment of eyeball

The anterior segment or anterior cavity is the front third of the eye that includes the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens.

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Anus

The anus (from Latin anus meaning "ring", "circle") is an opening at the opposite end of an animal's digestive tract from the mouth.

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Aorta

The aorta is the main artery in the human body, originating from the left ventricle of the heart and extending down to the abdomen, where it splits into two smaller arteries (the common iliac arteries).

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Aortic insufficiency

Aortic insufficiency (AI), also known as aortic regurgitation (AR), is the leaking of the aortic valve of the heart that causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.

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Aortic stenosis

Aortic stenosis (AS or AoS) is the narrowing of the exit of the left ventricle of the heart (where the aorta begins), such that problems result.

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Aortopulmonary septal defect

Aortopulmonary septal defect is a rare congenital heart disorder accounting for only 0.1-0.3% of congenital heart defects worldwide.

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Aortopulmonary window

Aortopulmonary window refers to a congenital heart defect similar in some ways to persistent truncus arteriosus.

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Aphakia

Aphakia is the absence of the lens of the eye, due to surgical removal, a perforating wound or ulcer, or congenital anomaly.

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Aplasia

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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Arm

In human anatomy, the arm is the part of the upper limb between the glenohumeral joint (shoulder joint) and the elbow joint.

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Arteriovenous malformation

Arteriovenous malformation (AVM) is an abnormal connection between arteries and veins, bypassing the capillary system.

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Arthrogryposis

Arthrogryposis multiplex congenital (AMC), or simply arthrogryposis, describes congenital joint contracture in two or more areas of the body.

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Asphyxiating thoracic dysplasia

Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy.

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Asplenia

Asplenia refers to the absence of normal spleen function and is associated with some serious infection risks.

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Athelia (disease)

Athelia is the congenital absence of one or both nipples.

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Atresia

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

Atrioventricular (having to do with an atrium and ventricle) can refer to.

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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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Autosome

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

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Bardet–Biedl syndrome

Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems.

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Beckwith–Wiedemann syndrome

Beckwith–Wiedemann syndrome (abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features.

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Bicornuate uterus

A bicornuate uterus or bicornate uterus (from the Latin cornū, meaning "horn"), commonly referred to as a "heart-shaped" uterus, is a uterus composed of two "horns" separated by a septum.

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Bifid rib

A bifid rib (bifurcated rib or sternum bifidum) is a congenital abnormality of the rib cage and associated muscles and nerves which occurs in about 1.2% of humans.

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Bile duct

A bile duct is any of a number of long tube-like structures that carry bile, and is present in most vertebrates.

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Biliary atresia

Biliary atresia, also known as extrahepatic ductopenia and progressive obliterative cholangiopathy, is a childhood disease of the liver in which one or more bile ducts are abnormally narrow, blocked, or absent.

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Birth defect

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

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Birthmark

A birthmark is a congenital, benign irregularity on the skin which is present at birth or appears shortly after birth, usually in the first month.

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Bladder exstrophy

Bladder exstrophy (also known as ectopia vesicae) is a congenital anomaly that exists along the spectrum of the exstrophy-epispadias complex and most notably involves protrusion of the urinary bladder through a defect in the abdominal wall.

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Blepharophimosis

Blepharophimosis is a congenital condition characterized by a horizontally narrow palpebral fissure.

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Brain

The brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals.

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Breast

The breast is one of two prominences located on the upper ventral region of the torso of primates.

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Broad ligament of the uterus

The broad ligament of the uterus is the wide fold of peritoneum that connects the sides of the uterus to the walls and floor of the pelvis.

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Bronchiectasis

Bronchiectasis is a disease in which there is permanent enlargement of parts of the airways of the lung.

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Bronchomalacia

Bronchomalacia is a term for weak cartilage in the walls of the bronchial tubes, often occurring in children under six months.

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Bronchus

A bronchus, is a passage of airway in the respiratory system that conducts air into the lungs.

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Buphthalmos

Buphthalmos (plural: buphthalmoses) is enlargement of the eyeball and is most commonly seen in infants and young children.

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Camurati–Engelmann disease

Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton.It is also known as progressive diaphyseal dysplasia.

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Capillary hemangioma

A capillary hemangioma (also known as an Infantile hemangioma, Strawberry hemangioma,James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders.. and Strawberry nevus) is the most common variant of hemangioma which appears as a raised, red, lumpy area of flesh anywhere on the body, though 83% occur on the head or neck area.

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Cataract

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

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Cauda equina

The cauda equina is a bundle of spinal nerves and spinal nerve rootlets, consisting of the second through fifth lumbar nerve pairs, the first through fifth sacral nerve pairs, and the coccygeal nerve, all of which arise from the lumbar enlargement and the conus medullaris of the spinal cord.

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Cephalic disorder

Cephalic disorders (from the Greek word κεφάλι, meaning "head") are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system.

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Cerebral aqueduct

The cerebral aqueduct, also known as the aqueductus mesencephali, mesencephalic duct, sylvian aqueduct or the aqueduct of Sylvius is within the mesencephalon (or midbrain), contains cerebrospinal fluid (CSF), and connects the third ventricle in the diencephalon to the fourth ventricle within the region of the mesencephalon and metencephalon, located dorsal to the pons and ventral to the cerebellum.

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Cervical agenesis

Cervical agenesis is a congenital disorder of the female genital system that manifests itself in the absence of a cervix, the connecting structure between the uterus and vagina.

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Cervical rib

A cervical rib in humans is an extra rib which arises from the seventh cervical vertebra.

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Cervix

The cervix or cervix uteri (neck of the uterus) is the lower part of the uterus in the human female reproductive system.

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Chiari malformation

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

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Choanal atresia

Choanal atresia is a congenital disorder where the back of the nasal passage (choana) is blocked, usually by abnormal bony or soft tissue (membranous) due to failed recanalization of the nasal fossae during fetal development.

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Choledochal cysts

Choledochal cysts (a.k.a. bile duct cyst) are congenital conditions involving cystic dilatation of bile ducts.

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Chondrodysplasia punctata

Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi (1882–1968), that share the features of stippled epiphyses and skeletal changes.

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Chondrodystrophy

Chondrodystrophy (literally, "cartilage maldevelopment") refers to a skeletal disorder caused by one of myriad genetic mutations that can affect the development of cartilage.

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Chordee

Chordee is a condition in which the head of the penis curves downward or upward, at the junction of the head and shaft of the penis.

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Choroid

The choroid, also known as the choroidea or choroid coat, is the vascular layer of the eye, containing connective tissues, and lying between the retina and the sclera.

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Chromosomal fragile site

A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend to break when the cell is exposed to partial replication stress.

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Chromosomal inversion

An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end.

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Chromosomal translocation

In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.

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Chromosome

A chromosome (from Ancient Greek: χρωμόσωμα, chromosoma, chroma means colour, soma means body) is a DNA molecule with part or all of the genetic material (genome) of an organism.

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Chromosome 4

Chromosome 4 is one of the 23 pairs of chromosomes in humans.

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Chromosome 5

Chromosome 5 is one of the 23 pairs of chromosomes in humans.

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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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Circulatory system

The circulatory system, also called the cardiovascular system or the vascular system, is an organ system that permits blood to circulate and transport nutrients (such as amino acids and electrolytes), oxygen, carbon dioxide, hormones, and blood cells to and from the cells in the body to provide nourishment and help in fighting diseases, stabilize temperature and pH, and maintain homeostasis.

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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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Clitoris

The clitoris is a female sex organ present in mammals, ostriches and a limited number of other animals.

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Clubfoot

Clubfoot is a birth defect where one or both feet are rotated inwards and downwards.

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Coarctation of the aorta

Coarctation of the aorta (CoA or CoAo), also called aortic narrowing, is a congenital condition whereby the aorta is narrow, usually in the area where the ductus arteriosus (ligamentum arteriosum after regression) inserts.

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Cockayne syndrome

Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging.

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Coloboma

A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc.

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Congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm.

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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 stenosis of vena cava

Congenital stenosis of vena cava is a congenital anomaly in which the superior vena cava or inferior vena cava has an aberrant interruption or coarctation.

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Conjoined twins

Conjoined twins are identical twins joined in utero.

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Cor triatriatum

Cor triatriatum (or triatrial heart) is a congenital heart defect where the left atrium (cor triatriatum sinistrum) or right atrium (cor triatriatum dextrum) is subdivided by a thin membrane, resulting in three atrial chambers (hence the name).

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Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a very rare genetic disorder present from birth, but not always diagnosed at birth.

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Coronary artery anomaly

Coronary artery anomalies (or malformation of coronary vessels) are congenital abnormalities in the coronary anatomy of the heart.

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Corpus callosum

The corpus callosum (Latin for "tough body"), also callosal commissure, is a wide commissure, a flat bundle of commissural fibers, about 10 cm long beneath the cerebral cortex in the brains of placental mammals.

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Craniosynostosis

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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Cri du chat syndrome

Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− syndrome (pronounced "five P minus") or Lejeune's syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5.

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Crouzon syndrome

Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome.

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Cryptorchidism

Cryptorchidism is the absence of one or both testes from the scrotum.

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Cutis laxa

Cutis laxa (also known as chalazoderma, dermatochalasia, dermatolysis, dermatomegaly, generalized elastolysis, generalized elastorrhexis, or pachydermatoceleJames, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 515..) is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.

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Cyclopia

Cyclopia (also cyclocephaly or synophthalmia) is a rare form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities.

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Cyst

A cyst is a closed sac, having a distinct membrane and division compared with the nearby tissue.

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Cystic eyeball

Congenital cystic eye (also known as CCE or cystic eyeball) is an extremely rare ocular malformation where the eye fails to develop correctly in utero and is replaced by benign, fluid-filled tissue.

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Cystic kidney disease

Cystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions.

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Dandy–Walker syndrome

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

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Darier's disease

Darier's disease (DAR), also known as Darier disease, Darier–White disease, Dyskeratosis follicularis, and Keratosis follicularis,Freedberg, et al.

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Deletion (genetics)

In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is lost during DNA replication.

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Dermatoglyphics

Dermatoglyphics (from Ancient Greek derma, "skin", and glyph, "carving") is the scientific study of fingerprints, lines, mounts and shapes of hands.

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Dextro-Transposition of the great arteries

dextro-Transposition of the great arteries (d-Transposition of the great arteries, dextro-TGA, or d-TGA), sometimes also referred to as complete transposition of the great arteries, is a birth defect in the large arteries of the heart.

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Dextrocardia

Dextrocardia (from Latin dexter, meaning "right," and Greek kardia, meaning "heart") is a rare congenital condition in which the apex of the heart is located on the right side of the body.

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Diastematomyelia

Diastematomyelia (occasionally diastomyelia) is a congenital disorder in which a part of the spinal cord is split, usually at the level of the upper lumbar vertebra.

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Diastrophic dysplasia

Diastrophic dysplasia (DTD) is an autosomal recessive dysplasia which affects cartilage and bone development.

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Digestion

Digestion is the breakdown of large insoluble food molecules into small water-soluble food molecules so that they can be absorbed into the watery blood plasma.

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Dolichocephaly

Dolichocephaly (derived from the Ancient Greek δολιχός, meaning "long") is a condition where the head is longer than would be expected, relative to its width.

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Dolichocolon

In medicine, a dolichocolon (word derived from ancient Greek dolichos, the long distance in running, and colon) is an abnormally long large intestine.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Double aortic arch

Double aortic arch (DAA) is a relatively rare congenital cardiovascular malformation.

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Double outlet right ventricle

Double outlet right ventricle (DORV) is a form of congenital heart disease where both of the great arteries connect (in whole or in part) to the right ventricle (RV).

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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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Dubowitz syndrome

Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a receding chin.

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Duct (anatomy)

In anatomy and physiology, a duct is a circumscribed channel leading from an exocrine gland or organ.

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Duodenum

The duodenum is the first section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds.

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Duplicated ureter

Duplicated ureter or Duplex Collecting System is a congenital condition in which the ureteric bud, the embryological origin of the ureter, splits (or arises twice), resulting in two ureters draining a single kidney.

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Dysmorphic feature

A dysmorphic feature is a difference of body structure.

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Dysplasia

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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Ear

The ear is the organ of hearing and, in mammals, balance.

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Ebstein's anomaly

Ebstein's anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced towards the apex of the right ventricle of the heart.

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Ectodermal dysplasia

Ectodermal dysplasia (ED) is not a single disorder but a group of syndromes all deriving from abnormalities of the ectodermal structures.

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Ectopia lentis

Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location.

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Ectrodactyly

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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Ectromelia

Ectromelia is a congenital condition where long bones are missing or underdeveloped.

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Ectropion

Ectropion is a medical condition in which the lower eyelid turns outwards.

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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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Ehlers–Danlos syndromes

Ehlers–Danlos syndromes (EDS) are a group of genetic connective tissue disorders.

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Eisenmenger's syndrome

Eisenmenger's syndrome (or ES, Eisenmenger's reaction, Eisenmenger physiology, or tardive cyanosis) is defined as the process in which a long-standing left-to-right cardiac shunt caused by a congenital heart defect (typically by a ventricular septal defect, atrial septal defect, or less commonly, patent ductus arteriosus) causes pulmonary hypertension and eventual reversal of the shunt into a cyanotic right-to-left shunt.

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Ellis–van Creveld syndrome

Ellis–van Creveld syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see 'Nomenclature' section below) is a rare genetic disorder of the skeletal dysplasia type.

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Encephalocele

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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Enchondromatosis

Enchondromatosis is a form of osteochondrodysplasia characterized by a proliferation of enchondromas.

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Endocardial cushions

Endocardial cushions, or atrioventricular cushions, refer to a subset of cells in the development of the heart that play a vital role in the proper formation of the heart septa.

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Endocrine gland

Endocrine glands are glands of the endocrine system that secrete their products, hormones, directly into the blood rather than through a duct.

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Entropion

Entropion is a medical condition in which the eyelid (usually the lower lid) folds inward.

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Epidermolysis bullosa

Epidermolysis bullosa (EB) is a group of genetic conditions that result in easy blistering of the skin and mucous membranes.

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Epidermolysis bullosa dystrophica

Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs.

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Epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS),is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.

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Epidermolytic hyperkeratosis

Epidermolytic ichthyosis (EI), (also known as "epidermolytic hyperkeratosis (EHK)", "bullous congenital ichthyosiform erythroderma (BCIE), bullous ichthyosiform erythroderma,Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill.. or bullous congenital ichthyosiform erythroderma Brocq) is a rare and severe form of ichthyosis this skin disease affects around 1 in 300,000 people.

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Epididymis

The epididymis (plural: epididymides or) is a tube that connects a testicle to a vas deferens in the male reproductive system.

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Epispadias

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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Esophageal stricture

A benign esophageal stricture, or peptic stricture, is a narrowing or tightening of the esophagus that causes swallowing difficulties.

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Esophageal web

Esophageal webs are thin membranes occurring anywhere along the esophagus.

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Esophagus

The esophagus (American English) or oesophagus (British English), commonly known as the food pipe or gullet (gut), is an organ in vertebrates through which food passes, aided by peristaltic contractions, from the pharynx to the stomach.

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EUROCAT (medicine)

EUROCAT is a European organization that describes itself as "a network of population-based registries for the epidemiological surveillance of congenital anomalies, covering 1.5 million births in 20 countries of Europe".

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Exogeny

In a variety of contexts, exogeny or exogeneity is the fact of an action or object originating externally.

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Eyelid

An eyelid is a thin fold of skin that covers and protects the human eye.

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Face

The face is a central body region of sense and is also very central in the expression of emotion among humans and among numerous other species.

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Facial symmetry

Facial symmetry is one specific measure of bodily asymmetry.

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Fallopian tube

The Fallopian tubes, also known as uterine tubes or salpinges (singular salpinx), are two very fine tubes lined with ciliated epithelia, leading from the ovaries of female mammals into the uterus, via the uterotubal junction.

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Female

Female (♀) is the sex of an organism, or a part of an organism, that produces non-mobile ova (egg cells).

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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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Femur

The femur (pl. femurs or femora) or thigh bone, is the most proximal (closest to the hip joint) bone of the leg in tetrapod vertebrates capable of walking or jumping, such as most land mammals, birds, many reptiles including lizards, and amphibians such as frogs.

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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 warfarin syndrome

Fetal Warfarin syndrome is a disorder of the embryo which occurs in a child whose mother took the medication warfarin (brand name: Coumadin) during pregnancy.

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Fibula

The fibula or calf bone is a leg bone located on the lateral side of the tibia, with which it is connected above and below.

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Finger

A finger is a limb of the human body and a type of digit, an organ of manipulation and sensation found in the hands of humans and other primates.

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Fissure

In anatomy, a fissure (Latin fissura, plural fissurae) is a groove, natural division, deep furrow, elongated cleft, or tear in various parts of the body also generally called a sulcus, or in the brain a sulcus.

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Fistula

A fistula is an abnormal connection between two hollow spaces (technically, two epithelialized surfaces), such as blood vessels, intestines, or other hollow organs.

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Flat feet

Flat feet (also called pes planus or fallen arches) is a postural deformity in which the arches of the foot collapse, with the entire sole of the foot coming into complete or near-complete contact with the ground.

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Foot

The foot (plural feet) is an anatomical structure found in many vertebrates.

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Forearm

The forearm is the region of the upper limb between the elbow and the wrist.

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Fragile X syndrome

Fragile X syndrome (FXS) is a genetic disorder.

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Franceschetti–Klein syndrome

Franceschetti–Klein syndrome (also known as "Mandibulofacial dysostosis") is a syndrome that includes palpebral antimongoloid fissures, hypoplasia of the facial bones, macrostomia, vaulted palate, malformations of both the external and internal ear, buccal-auricular fistula, abnormal development of the neck with stretching of the cheeks, accessory facial fissures, and skeletal deformities.

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Frontonasal dysplasia

Frontonasal dysplasia (FND) is a congenital malformation of the midface.

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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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Fundus (eye)

The fundus of the eye is the interior surface of the eye opposite the lens and includes the retina, optic disc, macula, fovea, and posterior pole.

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Gallbladder

In vertebrates, the gallbladder is a small hollow organ where bile is stored and concentrated before it is released into the small intestine.

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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

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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Gene duplication

Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution.

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Genetic marker

A genetic marker is a gene or DNA sequence with a known location on a chromosome that can be used to identify individuals or species.

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Genu valgum

Genu valgum, commonly called "knock-knee", is a condition in which the knees angle in and touch each other when the legs are straightened.

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Genu varum

Genu varum (also called bow-leggedness, bandiness, bandy-leg, and tibia vara), is a varus deformity marked by (outward) bowing at the knee, which means that the lower leg is angled inward (medially) in relation to the thigh's axis, giving the limb overall the appearance of an archer's bow.

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Glaucoma

Glaucoma is a group of eye diseases which result in damage to the optic nerve and vision loss.

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Goldenhar syndrome

Goldenhar syndrome (also known as oculo-auriculo-vertebral (OAV) syndrome) is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible.

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Gonadal dysgenesis

Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in the male or female.

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Great arteries

The great arteries are the primary arteries that carry blood away from the heart, which include.

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Great veins

The term Great veins can refer to either —.

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Hailey–Hailey disease

Hailey–Hailey disease, or familial benign chronic pemphigusJames, William; Berger, Timothy; Elston, Dirk (2005).

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Hair

Hair is a protein filament that grows from follicles found in the dermis.

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Hair loss

Hair loss, also known as alopecia or baldness, refers to a loss of hair from part of the head or body.

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Hand

A hand is a prehensile, multi-fingered appendage located at the end of the forearm or forelimb of primates such as humans, chimpanzees, monkeys, and lemurs.

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Harlequin-type ichthyosis

Harlequin-type ichthyosis is a genetic disorder which results in thickened skin over nearly the entire body at birth.

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Health care

Health care or healthcare is the maintenance or improvement of health via the prevention, diagnosis, and treatment of disease, illness, injury, and other physical and mental impairments in human beings.

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Hearing

Hearing, or auditory perception, is the ability to perceive sounds by detecting vibrations, changes in the pressure of the surrounding medium through time, through an organ such as the ear.

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Heart

The heart is a muscular organ in most animals, which pumps blood through the blood vessels of the circulatory system.

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Heart block

Heart block is a disease or inherited condition that causes a fault within the heart's natural pacemaker due to some kind of obstruction (or "block") in the electrical conduction system of the heart.

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Heinrich Albers-Schönberg

Heinrich Ernst Albers-Schönberg (January 21, 1865 – June 4, 1921) was a German gynecologist and radiologist who was a native of Hamburg.

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Hemimelia

Hemimelia comprises.

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Hereditary multiple exostoses

Hereditary multiple osteochondromas (HMO) also known as Hereditary multiple exostoses is a disorder characterized by the development of multiple benign osteocartilaginous masses (exostoses) in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones.

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Hermaphrodite

In biology, a hermaphrodite is an organism that has complete or partial reproductive organs and produces gametes normally associated with both male and female sexes.

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Heterochromatin

Heterochromatin is a tightly packed form of DNA or condensed DNA, which comes in multiple varieties.

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Hiatal hernia

A hiatal hernia is a type of hernia in which abdominal organs (typically the stomach) slip through the diaphragm into the middle compartment of the chest.

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Hip

In vertebrate anatomy, hip (or "coxa"Latin coxa was used by Celsus in the sense "hip", but by Pliny the Elder in the sense "hip bone" (Diab, p 77) in medical terminology) refers to either an anatomical region or a joint.

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Hip dislocation

A hip dislocation a disruption of the joint between the femur and pelvis.

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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

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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Holt–Oram syndrome

Holt–Oram syndrome (also called atrio-digital syndrome, atriodigital dysplasia, cardiac-limb syndrome, heart-hand syndrome type 1, HOS, ventriculo-radial syndrome) is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and often causes heart problems.

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Horseshoe kidney

Horseshoe kidney, also known as ren arcuatus (in Latin), renal fusion or super kidney, is a congenital disorder affecting about 1 in 600 people, more common in men.

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Human brain

The human brain is the central organ of the human nervous system, and with the spinal cord makes up the central nervous system.

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Human digestive system

The human digestive system consists of the gastrointestinal tract plus the accessory organs of digestion (the tongue, salivary glands, pancreas, liver, and gallbladder).

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Human eye

The human eye is an organ which reacts to light and pressure.

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Human head

In human anatomy, the head is the upper portion of the human body.

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Human leg

The human leg, in the general meaning, is the entire lower limb of the human body, including the foot, thigh and even the hip or gluteal region.

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Human mouth

In human anatomy, the mouth is the first portion of the alimentary canal that receives food and produces saliva.

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Human musculoskeletal system

The human musculoskeletal system (also known as the locomotor system, and previously the activity system) is an organ system that gives humans the ability to move using their muscular and skeletal systems.

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Human nose

The human nose is the protruding part of the face that bears the nostrils.

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Human penis

The human penis is an external male intromittent organ that additionally serves as the urinal duct.

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Hydranencephaly

Hydranencephaly is a condition in which the brain's cerebral hemispheres are absent to varying degrees and the remaining cranial cavity is filled with cerebrospinal fluid.

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Hydrocephalus

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

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Hydrophthalmos

Hydrophthalmos is a congenital form of glaucoma.

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Hyperplasia

Hyperplasia (from ancient Greek ὑπέρ huper, "over" + πλάσις plasis, "formation"), or hypergenesis, is an increase in the amount of organic tissue that results from cell proliferation.

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Hypertelorism

Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism.

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Hypertrophy

Hypertrophy (from Greek ὑπέρ "excess" + τροφή "nourishment") is the increase in the volume of an organ or tissue due to the enlargement of its component cells.

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Hypochondrogenesis

Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth.

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Hypochondroplasia

Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromeliaupdate 2013 and a head that appears large in comparison with the underdeveloped portions of the body.

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Hypoglossia

Hypoglossia is a short, incompletely developed tongue.

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Hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (also known as "anhidrotic ectodermal dysplasia", and "Christ-Siemens-Touraine syndrome"James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders..) is one of about 150 types of ectodermal dysplasia in humans.

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Hypoplasia

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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Hypoplastic right heart syndrome

Hypoplastic right heart syndrome is a congenital heart defect in which the right atrium and right ventricle are underdeveloped.

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Hypospadias

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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ICD-10

ICD-10 is the 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD), a medical classification list by the World Health Organization (WHO).

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Ichthyosis

Ichthyosis is a family of rare genetic skin disorders characterized by dry, thickened, scaly skin.

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Ichthyosis vulgaris

Ichthyosis vulgaris (also known as "Autosomal dominant ichthyosis," and "Ichthyosis simplex") is a skin disorder causing dry, scaly skin.

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Ileum

The ileum is the final section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds.

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Imperforate anus

An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed.

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Imperforate hymen

An imperforate hymen is a congenital disorder where a hymen without an opening completely obstructs the vagina.

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Incontinentia pigmenti

Incontinentia pigmenti (IP) is a rare genetic disorder that affects the skin, hair, teeth, nails, and central nervous system.

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Iniencephaly

Iniencephaly, a term derived from the Greek word "inion" for nape of the neck, is a rare type of cephalic disorder that was first described by Étienne Geoffroy Saint-Hilaire in 1836.

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Insertion (genetics)

In genetics, an insertion (also called an insertion mutation) is the addition of one or more nucleotide base pairs into a DNA sequence.

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Integument

In biology, integument is the natural covering of an organism or an organ, such as its skin, husk, shell, or rind.

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International Statistical Classification of Diseases and Related Health Problems

The International Classification of Diseases (ICD) is the international "standard diagnostic tool for epidemiology, health management and clinical purposes." Its full official name is International Statistical Classification of Diseases and Related Health Problems. The ICD is maintained by the World Health Organization (WHO), the directing and coordinating authority for health within the United Nations System.

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Interrupted aortic arch

Interrupted aortic arch is a very rare heart defect (affecting 3 per million live births) in which the aorta is not completely developed.

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Intersex

Intersex people are born with any of several variations in sex characteristics including chromosomes, gonads, sex hormones, or genitals that, according to the UN Office of the High Commissioner for Human Rights, "do not fit the typical definitions for male or female bodies".

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Intestinal malrotation

Intestinal malrotation is a congenital anomaly of rotation of the midgut (embryologically, the gut undergoes a complex rotation outside the abdomen).

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Iris (anatomy)

In humans and most mammals and birds, the iris (plural: irides or irises) is a thin, circular structure in the eye, responsible for controlling the diameter and size of the pupil and thus the amount of light reaching the retina.

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Jaw

The jaw is any opposable articulated structure at the entrance of the mouth, typically used for grasping and manipulating food.

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Jejunum

The jejunum is the second part of the small intestine in humans and most higher vertebrates, including mammals, reptiles, and birds.

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Junctional epidermolysis bullosa (medicine)

Junctional epidermolysis bullosa is a skin condition characterized by blister formation within the lamina lucida of the basement membrane zone.

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Karyotype

A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.

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Keratoglobus

Keratoglobus (from Greek: kerato- horn, cornea; and Latin: globus round), is a degenerative non-inflammatory disorder of the eye in which structural changes within the cornea cause it to become extremely thin and change to a more globular shape than its normal gradual curve.

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Kidney

The kidneys are two bean-shaped organs present in left and right sides of the body in vertebrates.

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Klinefelter syndrome

Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males.

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Klippel–Feil syndrome

Klippel–Feil syndrome is a rare disease, initially reported in 1884 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any two of the seven cervical vertebrae.

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Klippel–Trénaunay syndrome

Klippel–Trénaunay syndrome (KTS or KT), formerly Klippel–Trénaunay–Weber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly.

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Knee

The knee joins the thigh with the leg and consists of two joints: one between the femur and tibia (tibiofemoral joint), and one between the femur and patella (patellofemoral joint).

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Labial fusion

Labial fusion is a medical condition of the female genital anatomy where the labia minora become fused together.

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Lacrimal apparatus

The lacrimal apparatus is the physiological system containing the orbital structures for tear production and drainage.

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Lacrimal canaliculi

The lacrimal canaliculi, (sing. canaliculus), also known as the lacrimal canals or lacrimal ducts, are the small channels in each eyelid that commence at minute orifices, termed puncta lacrimalia, on the summits of the papillae lacrimales, seen on the margins of the lids at the lateral extremity of the lacus lacrimalis.

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Lamellar ichthyosis

Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people.

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Large intestine

The large intestine, also known as the large bowel or colon, is the last part of the gastrointestinal tract and of the digestive system in vertebrates.

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Laryngocele

Laryngocele refers to a congenital anomalous air sac communicating with the cavity of the larynx, which may bulge outward on the neck.

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Laryngomalacia

Laryngomalacia (literally, "soft larynx") is the most common cause of chronic stridor in infancy, in which the soft, immature cartilage of the upper larynx collapses inward during inhalation, causing airway obstruction.

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Larynx

The larynx, commonly called the voice box, is an organ in the top of the neck of tetrapods involved in breathing, producing sound, and protecting the trachea against food aspiration.

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Lateral aperture

The lateral aperture is a paired structure in human anatomy.

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Lens (anatomy)

The lens is a transparent, biconvex structure in the eye that, along with the cornea, helps to refract light to be focused on the retina.

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Leukonychia

Leukonychia (or leuconychia), also known as white nails or milk spots,James, William; Berger, Timothy; Elston, Dirk (2005).

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Levo-Transposition of the great arteries

Levo-Transposition of the great arteries (L-Transposition of the great arteries), also commonly referred to as congenitally corrected transposition of the great arteries (CC-TGA), is an acyanotic congenital heart defect (CHD) in which the primary arteries (the aorta and the pulmonary artery) are transposed, with the aorta anterior and to the left of the pulmonary artery; the morphological left and right ventricles with their corresponding atrioventricular valves are also transposed.

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Levocardia

Levocardia is a medical condition where the heart is on the normal side of the body (the left), as opposed to dextrocardia, in which the heart is in the right side of the thoracic cavity.

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Limb (anatomy)

A limb (from the Old English lim), or extremity, is a jointed, or prehensile (as octopus arms or new world monkey tails), appendage of the human or other animal body.

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Lip

Lips are a visible body part at the mouth of humans and many animals.

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Lissencephaly

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 ICD-9 codes 740–759: congenital anomalies

14.

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Liver

The liver, an organ only found in vertebrates, detoxifies various metabolites, synthesizes proteins, and produces biochemicals necessary for digestion.

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Locus (genetics)

A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).

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Low-set ears

Low-set ears are ears with depressed positioning of the pinnae two or more standard deviations below the population average.

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Lung

The lungs are the primary organs of the respiratory system in humans and many other animals including a few fish and some snails.

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Lymphedema

Lymphedema, also known as lymphoedema and lymphatic edema, is a condition of localized fluid retention and tissue swelling caused by a compromised lymphatic system, which normally returns interstitial fluid to the bloodstream.

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Macrocephaly

Macrocephaly is a condition in which the head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium.

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Macrocheilia

Macrocheilia is a condition of permanent swelling of the lip that results from greatly distended lymphatic spaces.

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Macroglossia

Macroglossia is the medical term for an unusually large tongue.

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Macrostomia

Macrostomia, (from the Greek prefix makro- meaning "large" and from Greek στόμα, "mouth") refers to a mouth that is unusually wide.

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Macrotia

Macrotia refers to an ear which is larger than would be expected.

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Madelung's deformity

Madelung's deformity is usually characterized by malformed wrists and wrist bones and is often associated with Léri-Weill dyschondrosteosis.

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Maffucci syndrome

Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple cavernous hemangioma and phlebolith.

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Male

A male (♂) organism is the physiological sex that produces sperm.

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Male reproductive system

The male reproductive system consists of a number of sex organs that play a role in the process of human reproduction.

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Marfan syndrome

Marfan syndrome (MFS) is a genetic disorder of the connective tissue.

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Mastocytosis

Mastocytosis, a type of mast cell disease, is a rare disorder affecting both children and adults caused by the accumulation of functionally defective mast cells (also called mastocytes) and CD34+ mast cell precursors.

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Möbius syndrome

Möbius syndrome (also spelt Moebius) is an extremely rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side.

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McCune–Albright syndrome

McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin, and endocrine systems. It is a mosaic disease arising from somatic activating mutations in GNAS, which encodes the alpha-subunit of the Gs G-coupled protein receptor. These mutations lead to constitutive receptor activation. It was first described in 1937 by Donovan James McCune and Fuller Albright.

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Meckel syndrome

Meckel syndrome (also known as Meckel–Gruber syndrome, Gruber syndrome, dysencephalia splanchnocystica) is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.

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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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Median aperture

The median aperture (also known as the medial aperture, and foramen of Magendie) drains cerebrospinal fluid (CSF) from the fourth ventricle into the cisterna magna.

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Mediastinum

The mediastinum (from Medieval Latin mediastinus, "midway") is the central compartment of the thoracic cavity surrounded by loose connective tissue, as an undelineated region that contains a group of structures within the thorax.

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Medical classification

Medical classification, or medical coding, is the process of transforming descriptions of medical diagnoses and procedures into universal medical code numbers.

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Megalencephaly

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

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Megalocornea

Megalocornea (MGCN, MGCN1) is an extremely rare nonprogressive condition in which the cornea has an enlarged diameter, reaching and exceeding 13 mm.

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Megaureter

Megaureter is a medical anomaly whereby the ureter is abnormally dilated.

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Metaphyseal dysplasia

Metaphyseal dysplasia, also known as Pyle's disease, Pyle's syndrome, Pyle-Cohn syndrome, and Bakwin-Krida syndrome is a rare disease in which the outer part of the shafts of long bones is thinner than normal and there is an increased chance of fractures.

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Microcephaly

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

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Microcheilia

Microcheilia is a congenital disorder where one's lips are unusually small.

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Microgyrus

A microgyrus is an area of the cerebral cortex that includes only four cortical layers instead of six.

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Micromastia

Micromastia (also called hypomastia, breast aplasia, breast hypoplasia, or mammary hypoplasia) is a medical term describing the postpubertal underdevelopment of a woman's breast tissue.

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Microphthalmia

Microphthalmia (Greek: μικρός micros.

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Microspherophakia

Microspherophakia is a rare congenital autosomal recessive condition where the lens of the eye is smaller than normal and spherically shaped.

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Microstomia

Microstomia (micro- a combining form meaning small + -stomia a combining form meaning mouth.

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Microtia

Microtia is a congenital deformity where the pinna (external ear) is underdeveloped.

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Mitral insufficiency

Mitral insufficiency (MI), mitral regurgitation or mitral incompetence is a disorder of the heart in which the mitral valve does not close properly when the heart pumps out blood.

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Mitral valve

The mitral valve, also known as the bicuspid valve or left atrioventricular valve, is a valve with two flaps in the heart, that lies between the left atrium and the left ventricle.

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Mitral valve stenosis

Mitral stenosis is a valvular heart disease characterized by the narrowing of the orifice of the mitral valve of the heart.

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Monilethrix

Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded.

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Monorchism

Monorchism (also monorchidism) is the state of having only one testicle within the scrotum.

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Monosomy

Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair.

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Mosaic (genetics)

In genetics, a mosaic, or mosaicism, involves the presence of two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg.

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Mouth

In animal anatomy, the mouth, also known as the oral cavity, buccal cavity, or in Latin cavum oris, is the opening through which many animals take in food and issue vocal sounds.

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Multicystic dysplastic kidney

Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney during fetal development.

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Multiple abnormalities

When a patient has multiple abnormalities (multiple anomaly, multiple deformity), they have a congenital abnormality that can not be primarily identified with a single system of the body or single disease process.

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Nail (anatomy)

A nail is a horn-like envelope covering the tips of the fingers and toes in most primates and a few other mammals.

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Nail–patella syndrome

Nail–patella syndrome (NPS) is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips.

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Neck

The neck is the part of the body, on many vertebrates, that separates the head from the torso.

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Neoplasm

Neoplasia is a type of abnormal and excessive growth of tissue.

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Nervous system

The nervous system is the part of an animal that coordinates its actions by transmitting signals to and from different parts of its body.

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Neurofibromatosis

Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system.

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Neurofibromatosis type I

Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein called neurofibromin which is needed for normal function in many human cell types.

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Neurofibromatosis type II

Neurofibromatosis type II (also known as MISME syndrome - multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition which may be inherited or may arise spontaneously. The main manifestation of the condition is the development of symmetric, benign brain tumors in the region of the cranial nerve VIII, which is the "auditory-vestibular nerve" that transmits sensory information from the inner ear to the brain. Many people with this condition also experience visual problems. NF II is caused by mutations of the "Merlin" gene, which seems to influence the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. Historically the underlying disorder has not had any therapy due to the cell function caused by the genetic mutation. However, new drug research and some clinical trials have shown some promise in having beneficial effects. Collaborative research to find better treatments is ongoing, such as the work of the Synodos NF-2 Consortium of scientists.

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Nevus

Nevus (or nevi if multiple) is a nonspecific medical term for a visible, circumscribed, chronic lesion of the skin or mucosa.

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Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division.

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Noonan syndrome

Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder and is named after Jacqueline Noonan, a pediatric cardiologist.

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Ollier disease

Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors (enchondroma) develop close to growth plate cartilage.

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Omphalocele

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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Onychauxis

Onychauxis presents with thickened nails without deformity, and this simple thickening may be the result of trauma, acromegaly, Darier's disease, psoriasis, or pityriasis rubra pilaris, or, in some cases, hereditary.

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Optic disc

The optic disc or optic nerve head is the point of exit for ganglion cell axons leaving the eye.

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Orbit

In physics, an orbit is the gravitationally curved trajectory of an object, such as the trajectory of a planet around a star or a natural satellite around a planet.

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Orofaciodigital syndrome 1

Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system.

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Osteochondrodysplasia

Osteochondrodysplasia or skeletal dysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo") and cartilage ("chondro").

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Osteodystrophy

Osteodystrophy is any dystrophic growth of the bone.

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Osteogenesis imperfecta

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones.

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Osteopetrosis

Osteopetrosis, literally "stone bone", also known as marble bone disease, Albers-Schönberg disease is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften.

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Osteopoikilosis

Osteopoikilosis is a benign, autosomal dominant sclerosing dysplasia of bone characterized by the presence of numerous bone islands in the skeleton.

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Osteosclerosis

Osteosclerosis is a disorder that is characterized by abnormal hardening of bone and an elevation in bone density.

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Ostium primum atrial septal defect

The ostium primum atrial septal defect (also known as an endocardial cushion defect) is a defect in the atrial septum at the level of the tricuspid and mitral valves.

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Otocephaly

Otocephaly (from the Greek words οτο, meaning "ear", and κεφάλη, meaning "head") is a type of head disorder (cephalic disorder).

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Ovary

The ovary is an organ found in the female reproductive system that produces an ovum.

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Overgrowth syndrome

Overgrowth syndromes in children constitute a group of rare disorders that are typical of tissue hypertrophy.

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Overriding aorta

An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect (VSD), instead of over the left ventricle.

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Oxycephaly

Oxycephaly is a type of cephalic disorder where the top of the skull is pointed or conical due to premature closure of the coronal suture plus any other suture, like the lambdoid, or it may be used to describe the premature fusion of all sutures.

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Pachygyria

Pachygyria (from the Greek "pachy" meaning "thick" or "fat" gyri) is a congenital malformation of the cerebral hemisphere.

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Pachyonychia congenita

Pachyonychia congenita is an autosomal dominant skin disorder.

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Palate

The palate is the roof of the mouth in humans and other mammals.

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Palmoplantar keratoderma

Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soles.

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Pancreas

The pancreas is a glandular organ in the digestive system and endocrine system of vertebrates.

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Pancreatic duct

The pancreatic duct, or duct of Wirsung (also, the major pancreatic duct due to the existence of an accessory pancreatic duct), is a duct joining the pancreas to the common bile duct to supply pancreatic juice provided from the exocrine pancreas which aids in digestion.

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Parathyroid gland

Parathyroid glands are small endocrine glands in the neck of humans and other tetrapods that produce parathyroid hormone.

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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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Pectus carinatum

Pectus carinatum (L carīnātus, equiv. to carīn(a) keel), also called pigeon chest, is a malformation of the chest characterized by a protrusion of the sternum and ribs.

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Pectus excavatum

Pectus excavatum is a congenital deformity of the anterior thoracic wall in which the sternum and rib cage grow abnormally.

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Pelvis

The pelvis (plural pelves or pelvises) is either the lower part of the trunk of the human body between the abdomen and the thighs (sometimes also called pelvic region of the trunk) or the skeleton embedded in it (sometimes also called bony pelvis, or pelvic skeleton).

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Peripartum cardiomyopathy

Peripartum cardiomyopathy (PPCM) is a form of dilated cardiomyopathy that is defined as a deterioration in cardiac function presenting typically between the last month of pregnancy and up to six months postpartum.

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Peripheral vascular system

The peripheral vascular system consists of the veins and arteries not in the chest or abdomen (i.e. in the arms, hands, legs and feet).

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Persistent cloaca

A persistent cloaca is a symptom of a complex anorectal congenital disorder, in which the rectum, vagina, and urinary tract meet and fuse, creating a cloaca, a single common channel.

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Persistent left superior vena cava

In anatomy, a persistent left superior vena cava (PLSVC) is the most common variation of the thoracic venous system, is prevalent in 0.3% of the population, and an embryologic remnant that results from a failure to involute.

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Persistent thyroglossal duct

A persistent thyroglossal duct is a usually benign medical condition in which the thyroglossal duct, a structure usually only found during embryonic development, fails to atrophy.

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Persistent truncus arteriosus

Persistent truncus arteriosus (or patent truncus arteriosus or common arterial trunk), is a rare form of congenital heart disease that presents at birth.

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Pes cavus

Pes cavus (in medical terminology, also high instep, high arch, talipes cavus, cavoid foot, and supinated foot type) is a human foot type in which the sole of the foot is distinctly hollow when bearing weight.

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Phakomatosis

Phakomatoses refers to a group of neuro-oculo-cutaneous syndromes or neurocutaneous disorders involving structures arising from the embryonic ectoderm.

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Pharyngeal groove

A pharyngeal groove (or branchial groove, or pharyngeal cleft) is made up of ectoderm unlike its counterpart the pharyngeal pouch on the endodermal side.

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Pharyngeal pouch (embryology)

In the embryonic development of vertebrates, pharyngeal pouches form on the endodermal side between the pharyngeal arches.

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Pharynx

The pharynx (plural: pharynges) is the part of the throat that is behind the mouth and nasal cavity and above the esophagus and the larynx, or the tubes going down to the stomach and the lungs.

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Phocomelia

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

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Pierre Robin syndrome

Pierre Robin syndrome (abbreviated to PRS, and also known as Pierre Robin sequence, Pierre Robin malformation, Pierre Robin anomaly or Pierre Robin anomalad) is a congenital condition of facial abnormalities in humans.

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Pigeon toe

Pigeon toe, also known as in-toeing, is a condition which causes the toes to point inward when walking.

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Pili annulati

Pili annulati (also known as "ringed hair") is a genetic trait in which the hair seems banded by alternating segments of light and dark color when seen in reflected light.

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Plagiocephaly

Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull.

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Platybasia

Platybasia is a spinal disease of a malformed relationship between the occipital bone and cervical spine.

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Poland syndrome

Poland syndrome, named after British surgeon Alfred Poland, is a rare birth defect characterized by underdevelopment or absence of the chest muscle (pectoralis) on one side of the body, and usually also webbing of the fingers (cutaneous syndactyly) of the hand on the same side (the ipsilateral hand).

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Polycystic kidney disease

Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney.

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Polycystic liver disease

Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout normal liver tissue.

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Polydactyly

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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Polyploid

Polyploid cells and organisms are those containing more than two paired (homologous) sets of chromosomes.

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Polysyndactyly

Polysyndactyly is an hereditary anatomical malformation combining polydactyly and syndactyly.

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Porencephaly

Porencephaly is an extremely rare cephalic disorder involving encephalomalacia.

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Port-wine stain

A port-wine stain (nevus flammeus), also commonly called a firemark, is a discoloration of the human skin caused by a vascular anomaly (a capillary malformation in the skin).

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Posterior segment of eyeball

The posterior segment or posterior cavity is the back two-thirds of the eye that includes the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve.

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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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Prader–Willi syndrome

Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes.

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Preauricular sinus and cyst

A preauricular sinus (also known as a congenital auricular fistula, a congenital preauricular fistula, a Geswein hole, an ear pit,Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill.. or a preauricular cyst) is a common congenital malformation characterized by a nodule, dent or dimple located anywhere adjacent to the external ear.

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Prometaphase

Prometaphase is the phase of mitosis following prophase and preceding metaphase, in eukaryotic somatic cells.

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Prostate

The prostate (from Ancient Greek προστάτης, prostates, literally "one who stands before", "protector", "guardian") is a compound tubuloalveolar exocrine gland of the male reproductive system in most mammals.

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Protruding ear

Prominent ear, otapostasis or bat ear is an abnormally protruding human ear.

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Prune belly syndrome

Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births.

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Pseudohermaphroditism

Pseudohermaphroditism, or pseudo-hermaphroditism, is an old clinical term for an organism that is born with primary sex characteristics of one sex but develops the secondary sex characteristics that are different from what would be expected on the basis of the gonadal tissue (ovary or testis).

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Ptosis (eyelid)

Ptosis (/ˈtoʊsɪs/) is a drooping or falling of the upper eyelid.

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Pulmonary atresia

Pulmonary atresia is a congenital malformation of the pulmonary valve in which the valve orifice fails to develop.

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Pulmonary insufficiency

Pulmonary insufficiency (or incompetence, or regurgitation) is a condition in which the pulmonary valve is incompetent and allows backflow from the pulmonary artery to the right ventricle of the heart during diastole.

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Pulmonary pleurae

The pulmonary pleurae (sing. pleura) are the two pleurae of the invaginated sac surrounding each lung and attaching to the thoracic cavity.

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Pulmonary sequestration

A pulmonary sequestration (bronchopulmonary sequestration or cystic lung lesion), is a medical condition wherein a piece of tissue that ultimately develops into lung tissue is not attached to the pulmonary arterial blood supply, as is the case in normally developing lung.

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Pulmonary valve

The pulmonary valve (sometimes referred to as the pulmonic valve) is the semilunar valve of the heart that lies between the right ventricle and the pulmonary artery and has three cusps.

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Pulmonary valve stenosis

Pulmonary valve stenosis (PVS) is a heart valve disorder in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve.

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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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Rachischisis

Rachischisis (Greek: "rhachis - ῥάχις" - spine, and "schisis - σχίσις" - split) is a developmental birth defect involving the neural tube.

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Radioulnar synostosis

Radioulnar synostosis is a rare condition where there is an abnormal connection between the radius and ulna bones of the forearm.

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Radius

In classical geometry, a radius of a circle or sphere is any of the line segments from its center to its perimeter, and in more modern usage, it is also their length.

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Rectovaginal fistula

A rectovaginal fistula is a medical condition where there is a fistula or abnormal connection between the rectum and the vagina.

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Rectum

The rectum is the final straight portion of the large intestine in humans and some other mammals, and the gut in others.

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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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Renal artery

The renal arteries normally arise off the left interior side of the abdominal aorta, immediately below the superior mesenteric artery, and supply the kidneys with blood.

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Renal artery stenosis

Renal artery stenosis is the narrowing of one of the renal arteries, most often caused by atherosclerosis or fibromuscular dysplasia.

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Renal ectopia

Renal ectopia or ectopic kidney describes a kidney that is not located in its usual position.

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Renal pelvis

The renal pelvis or pelvis of the kidney is the basin-like or funnel-like dilated proximal part of the ureter in the kidney.

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Respiratory system

The respiratory system (also respiratory apparatus, ventilatory system) is a biological system consisting of specific organs and structures used for gas exchange in animals and plants.

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Retina

The retina is the innermost, light-sensitive "coat", or layer, of shell tissue of the eye of most vertebrates and some molluscs.

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Rib cage

The rib cage is an arrangement of bones in the thorax of most vertebrates.

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Robertsonian translocation

Robertsonian translocation (ROB) is a rare form of chromosomal rearrangement where the participating chromosomes break at their centromeres and the long arms fuse to form a single, large chromosome with a single centromere.

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Robinow syndrome

Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation.

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Rubinstein–Taybi syndrome

Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes.

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Salivary gland

The salivary glands in mammals are exocrine glands that produce saliva through a system of ducts.

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Schizencephaly

Schizencephaly is a rare birth defect characterized by abnormal clefts lined with grey matter that form the ependyma of the cerebral ventricles to the pia mater.

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Scimitar syndrome

Scimitar syndrome, or congenital pulmonary venolobar syndrome, is a rare congenital heart defect characterized by anomalous venous return from the right lung (to the systemic venous drainage, rather than directly to the left atrium).

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Scoliosis

Scoliosis is a medical condition in which a person's spine has a sideways curve.

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Scrotum

The scrotum is an anatomical male reproductive structure that consists of a suspended dual-chambered sack of skin and smooth muscle that is present in most terrestrial male mammals and located under the penis.

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Seckel syndrome

The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow-Seckel dwarfism, and Bird-headed dwarf of Seckel) is an extremely rare congenital nanosomic disorder.

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Seminal vesicle

The seminal vesicles (glandulae vesiculosae), vesicular glands, or seminal glands, are a pair of simple tubular glands posteroinferior to the urinary bladder of some male mammals.

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Septo-optic dysplasia

Septo-optic dysplasia (SOD), (de Morsier syndrome) is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain).

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Septum

In biology, a septum (Latin for something that encloses; plural septa) is a wall, dividing a cavity or structure into smaller ones.

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Sex chromosome

An allosome (also referred to as a sex chromosome, heterotypical chromosome, heterochromosome, or idiochromosome) is a chromosome that differs from an ordinary autosome in form, size, and behavior.

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Sex organ

A sex organ (or reproductive organ) is any part of an animal's body that is involved in sexual reproduction.

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Short rib – polydactyly syndrome

Short rib – polydactyly syndrome is a family of four closely related dysplasias.

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Short stature

Short stature refers to a height of a human being which is below typical.

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Shoulder girdle

The shoulder girdle or pectoral girdle is the set of bones in the appendicular skeleton which connects to the arm on each side.

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Silver–Russell syndrome

Silver–Russell syndrome (SRS), also called Silver–Russell dwarfism or Russell–Silver syndrome (RSS) is a growth disorder occurring in approximately 1/50,000 to 1/100,000 births.

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Single transverse palmar crease

In humans, a single transverse palmar crease is a single crease that extends across the palm of the hand, formed by the fusion of the two palmar creases (known in palmistry as the "heart line" and the "head line") and is found in people with Down Syndrome.

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Sinus (anatomy)

A sinus is a sac or cavity in any organ or tissue, or an abnormal cavity or passage caused by the destruction of tissue.

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Sirenomelia

Sirenomelia, alternatively known as Mermaid syndrome, is a rare congenital deformity in which the legs are fused together, giving them the appearance of a mermaid's tail as the nickname suggests.

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Situs inversus

Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions.

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Sjögren–Larsson syndrome

Sjögren–Larsson syndrome (SLS) is an autosomal recessive form of ichthyosis apparent at birth.

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Skeleton

The skeleton is the body part that forms the supporting structure of an organism.

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Skin

Skin is the soft outer tissue covering vertebrates.

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Skin tag

A skin tag, or acrochordon (pl. acrochorda), is a small benign tumor that forms primarily in areas where the skin forms creases, such as the neck, armpit and groin.

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Skull

The skull is a bony structure that forms the head in vertebrates.

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Small intestine

The small intestine or small bowel is the part of the gastrointestinal tract between the stomach and the large intestine, and is where most of the end absorption of food takes place.

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Small supernumerary marker chromosome

Humans typically have 22 pairs of autosomal chromosomes in their cells, and a pair of sex chromosomes.

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Smith–Lemli–Opitz syndrome

Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn error of cholesterol synthesis.

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Sotos syndrome

Sotos syndrome (cerebral gigantism or Sotos-Dodge syndrome) is a rare genetic disorder characterized by excessive physical growth during the first years of life.

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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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Spinal cord

The spinal cord is a long, thin, tubular bundle of nervous tissue and support cells that extends from the medulla oblongata in the brainstem to the lumbar region of the vertebral column.

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Spleen

The spleen is an organ found in virtually all vertebrates.

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Splenomegaly

Splenomegaly is an enlargement of the spleen.

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Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing.

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Spondylolisthesis

Spondylolisthesis is the slippage or displacement of one vertebra compared to another.

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Sprengel's deformity

Sprengel's deformity (also known as high scapula or congenital high scapula) is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other.

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Stenosis

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

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Stenosis of pulmonary artery

Stenosis of the pulmonary artery is a condition where the pulmonary artery is subject to an abnormal constriction (or stenosis).

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Sternocleidomastoid muscle

The sternocleidomastoid muscle (also known as sternomastoid, commonly abbreviated as SCM or simply referred to as sterno muscle), is a paired muscle in the superficial layers of the side of the neck.

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Sternum

The sternum or breastbone is a long flat bone located in the center of the chest.

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Sturge–Weber syndrome

Sturge–Weber syndrome or Sturge–Weber–Krabbe disease, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder.

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Subluxation

In medicine, a subluxation is an incomplete or partial dislocation of a joint or organ.

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Supernumerary nipple

A supernumerary nipple (also known as a third nipple, triple nipple, accessory nipple, polythelia or the related condition: polymastia) is an additional nipple occurring in mammals, including humans.

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Syndactyly

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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Taussig–Bing syndrome

Taussig–Bing syndrome (after Helen B. Taussig and Richard Bing) is a cyanotic congenital heart defect in which the patient has both double outlet right ventricle (DORV) and subpulmonic ventricular septal defect (VSD).

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Testicle

The testicle or testis is the male reproductive gland in all animals, including humans.

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Tetralogy of Fallot

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

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Thanatophoric dysplasia

Thanatophoric dysplasia (thanatophoric dwarfism) is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs.

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The International League of Dermatological Societies

The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization.

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Thigh

In human anatomy, the thigh is the area between the hip (pelvis) and the knee.

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Thoracic diaphragm

For other uses, see Diaphragm (disambiguation). The thoracic diaphragm, or simply the diaphragm (partition), is a sheet of internal skeletal muscle in humans and other mammals that extends across the bottom of the thoracic cavity.

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Thorax

The thorax or chest (from the Greek θώραξ thorax "breastplate, cuirass, corslet" via thorax) is a part of the anatomy of humans and various other animals located between the neck and the abdomen.

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Thyroglossal cyst

A thyroglossal cyst is a fibrous cyst that forms from a persistent thyroglossal duct.

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Thyroid

The thyroid gland, or simply the thyroid, is an endocrine gland in the neck, consisting of two lobes connected by an isthmus.

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Tibia

The tibia (plural tibiae or tibias), also known as the shinbone or shankbone, is the larger, stronger, and anterior (frontal) of the two bones in the leg below the knee in vertebrates (the other being the fibula, behind and to the outside of the tibia), and it connects the knee with the ankle bones.

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Toe

Toes are the digits of the foot of a tetrapod.

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Tongue

The tongue is a muscular organ in the mouth of most vertebrates that manipulates food for mastication, and is used in the act of swallowing.

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Trachea

The trachea, colloquially called the windpipe, is a cartilaginous tube that connects the pharynx and larynx to the lungs, allowing the passage of air, and so is present in almost all air-breathing animals with lungs.

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Tracheoesophageal fistula

A tracheoesophageal fistula (TEF, or TOF; see spelling differences) is an abnormal connection (fistula) between the esophagus and the trachea.

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Tracheomalacia

Tracheomalacia is a condition where the cartilage that keeps the airway (trachea) open is soft such that the trachea partly collapses especially during increased airflow.

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Transposition of the great vessels

Transposition of the great vessels (TGV) is a group of congenital heart defects involving an abnormal spatial arrangement of any of the great vessels: superior and/or inferior venae cavae, pulmonary artery, pulmonary veins, and aorta.

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Treacher Collins syndrome

Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin.

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Trichothiodystrophy

Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment.

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Tricuspid atresia

Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve.

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Tricuspid valve

The tricuspid valve, or right atrioventricular valve, is on the right dorsal side of the mammalian heart, between the right atrium and the right ventricle.

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Tricuspid valve stenosis

Tricuspid Valve Stenosis is a valvular heart disease that narrows the opening of the heart's tricuspid valve.

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Trigonocephaly

Trigonocephaly (from Greek trigonon, "triangle", and kephale, "head") is a congenital condition of premature fusion of the metopic suture (from Greek metopon, "forehead"), leading to a triangular shaped forehead.

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Triphalangeal thumb

Triphalangeal thumb (TPT) is a congenital malformation where the thumb has three phalanges instead of two.

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Triple X syndrome

Triple X syndrome, also known as trisomy X and 47,XXX, is characterized by the presence of an extra X chromosome in each cell of a female.

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Trisomy

A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two.

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Trisomy 8

Trisomy 8, also known as Warkany syndrome 2, is a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8.

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Trisomy 9

Full trisomy 9 is a lethal chromosomal disorder caused by having three copies (trisomy) of chromosome number 9.

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True hermaphroditism

True hermaphroditism, clinically known as ovotesticular disorder of sex development, is a medical term for an intersex condition in which an individual is born with ovarian and testicular tissue.

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Tuberous sclerosis

Tuberous sclerosis, or tuberous sclerosis complex (TSC), or epiloia (acronym of "epilepsy, low intelligence, adenoma sebaceum"), is a rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs, and skin.

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Turner syndrome

Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome.

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Twin reversed arterial perfusion

Twin reversed arterial perfusion sequence—also called TRAP sequence, TRAPS, or acardiac twinning—is a rare complication of monochorionic twin pregnancies.

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Ulna

The ulna is a long bone found in the forearm that stretches from the elbow to the smallest finger, and when in anatomical position, is found on the medial side of the forearm.

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Umbilical artery

The umbilical artery is a paired artery (with one for each half of the body) that is found in the abdominal and pelvic regions.

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Unicornuate uterus

A unicornuate uterus represents a uterine malformation where the uterus is formed from one only of the paired Müllerian ducts while the other Müllerian duct does not develop or only in a rudimentary fashion.

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Upper limb

The upper limb or upper extremity is the region in a vertebrate animal extending from the deltoid region up to and including the hand, including the arm, axilla and shoulder.

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Urachal cyst

A urachal cyst is a sinus remaining from the allantois during embryogenesis.

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Urachus

The urachus is a fibrous remnant of the allantois, a canal that drains the urinary bladder of the fetus that joins and runs within the umbilical cord.

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Ureter

In human anatomy, the ureters are tubes made of smooth muscle fibers that propel urine from the kidneys to the urinary bladder.

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Urethra

In anatomy, the urethra (from Greek οὐρήθρα – ourḗthrā) is a tube that connects the urinary bladder to the urinary meatus for the removal of urine from the body.

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Urinary bladder

The urinary bladder is a hollow muscular organ in humans and some other animals that collects and stores urine from the kidneys before disposal by urination.

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Urinary system

The urinary system, also known as the renal system or urinary tract, consists of the kidneys, ureters, bladder, and the urethra.

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Urticaria pigmentosa

Urticaria pigmentosa (also known as generalized eruption of cutaneous mastocytosis (childhood type)James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders..) is the most common form of cutaneous mastocytosis.

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Uterus

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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Uterus didelphys

Uterus didelphys (sometimes also uterus didelphis) represents a uterine malformation where the uterus is present as a paired organ when the embryogenetic fusion of the Müllerian ducts fails to occur.

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VACTERL association

The VACTERL association (also VATER association) refers to a recognized group of birth defects which tend to have a non-random occurrence (see below).

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Vagina

In mammals, the vagina is the elastic, muscular part of the female genital tract.

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Vaginal atresia

Vaginal atresia is a condition in which the vagina is abnormally closed or absent.

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Vaginal septum

A vaginal septum is a vaginal anomaly that is partition within the vagina; such a septum could be either longitudinal or transverse.

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Valgus deformity

In orthopedics, a valgus deformity is a condition in which the bone segment distal to a joint is angled outward, that is, angled laterally, away from the body's midline.

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Van der Woude syndrome

Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits, cleft lip with or without cleft palate, and cleft palate alone (CP).

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Varus deformity

In orthopedics, a varus deformity is an inward angulation (medial angulation, that is, towards the body's midline) of the distal segment of a bone or joint.

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Vas deferens

The vas deferens (Latin: "carrying-away vessel"; plural: vasa deferentia), also called ductus deferens (Latin: "carrying-away duct"; plural: ductus deferentes), is part of the male reproductive system of many vertebrates; these vasa transport sperm from the epididymis to the ejaculatory ducts in anticipation of ejaculation.

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Vascular ring

A vascular ring is a congenital defect in which there is an abnormal formation of the aorta and/or its surrounding blood vessels.

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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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Vertebral column

The vertebral column, also known as the backbone or spine, is part of the axial skeleton.

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Vitreous body

The vitreous body is the clear gel that fills the space between the lens and the retina of the eyeball of humans and other vertebrates.

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Von Hippel–Lindau disease

von Hippel–Lindau disease (VHL), also known as Familial cerebello retinal angiomatosis, is a rare genetic disorder with multisystem involvement.

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Vulva

The vulva (wrapper, covering, plural vulvae or vulvas) consists of the external female sex organs.

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Weaver syndrome

Weaver syndrome (also called Weaver-Smith syndrome) is an extremely rare congenital disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years.

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Webbed neck

A webbed neck, or pterygium colli deformity, is a congenital skin fold that runs along the sides of the neck down to the shoulders.

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Webbed toes

Webbed toes is the common name for syndactyly affecting the feet.

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Williams syndrome

Williams syndrome (WS) is a genetic disorder that affects many parts of the body.

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Wolf–Hirschhorn syndrome

Wolf–Hirschhorn syndrome (WHS), also known as chromosome deletion Dillan 4p syndrome, Pitt–Rogers–Danks syndrome (PRDS) or Pitt syndrome, is a chromosomal deletion syndrome resulting from a partial deletion from the short arm of chromosome 4 (del(4p16.3)).

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World Health Organization

The World Health Organization (WHO; French: Organisation mondiale de la santé) is a specialized agency of the United Nations that is concerned with international public health.

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X chromosome

The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females.

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X-linked ichthyosis

X-linked ichthyosis (XLI) (also known as ") is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males.

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Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light.

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XX male syndrome

XX male syndrome is a rare congenital condition where an individual with a female genotype has phenotypically male characteristics that can vary between cases.

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XY sex-determination system

The XY sex-determination system is the sex-determination system found in humans, most other mammals, some insects (Drosophila), some snakes, and some plants (Ginkgo).

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XYY syndrome

XYY syndrome is a genetic condition in which a male has an extra Y chromosome.

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Zellweger syndrome

Zellweger syndrome, also called cerebrohepatorenal syndrome, is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual.

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

References

[1] https://en.wikipedia.org/wiki/ICD-10_Chapter_XVII:_Congenital_malformations,_deformations_and_chromosomal_abnormalities

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