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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Aarskog–Scott syndrome · See more »
Abdominal wall
In anatomy, the abdominal wall represents the boundaries of the abdominal cavity.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Abdominal wall · See more »
Abnormality (behavior)
Abnormality (or dysfunctional behavior) is a behavioral characteristic assigned to those with conditions regarded as rare or dysfunctional.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Abnormality (behavior) · See more »
Accessory auricle
An accessory auricle is considered a developmental anomaly resulting from the persistence of a structure which variably recapitulates the normal external ear.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Accessory auricle · See more »
Accessory breast
Accessory breasts, also known as polymastia, supernumerary breasts, or mammae erraticae, is the condition of having an additional breast.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Accessory breast · See more »
Accessory muscle
An accessory muscle is a relatively rare anatomic duplication of a muscle that may appear anywhere in the muscular system.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Accessory muscle · See more »
Accessory pancreas
Accessory pancreas is a rare condition in which small groups of pancreatic cells are separate from the pancreas.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Accessory pancreas · See more »
Achondrogenesis
Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Achondrogenesis · See more »
Achondroplasia
Achondroplasia is a genetic disorder that results in dwarfism.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Achondroplasia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Acrania · See more »
Acrocephalosyndactylia
Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Acrocephalosyndactylia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Adrenal gland · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Agenesis · See more »
Aglossia
Aglossia (aglossia congenita) is a congenital defect resulting in a partial development or complete absence of a tongue.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Aglossia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Alagille syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Alport syndrome · See more »
Amastia
Amastia refers to a condition where breast tissue, nipple, and areola is absent, either congenitally or iatrogenically.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Amastia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Amelia (birth defect) · See more »
Anencephaly
Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Anencephaly · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Aneuploidy · See more »
Aneurysm of sinus of Valsalva
Aneurysm of the aortic sinus, also known as the sinus of Valsalva, is comparatively rare.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Aneurysm of sinus of Valsalva · See more »
Angelman syndrome
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Angelman syndrome · See more »
Aniridia
Aniridia is the absence of the iris, usually involving both eyes.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Aniridia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ankyloglossia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Annular pancreas · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Anomalous pulmonary venous connection · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Anonychia · See more »
Anophthalmia
Anophthalmia, (Greek: ανόφθαλμος, "without eye"), is the medical term for the absence of one or both eyes.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Anophthalmia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Anterior segment of eyeball · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Anus · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Aorta · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Aortic insufficiency · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Aortic stenosis · See more »
Aortopulmonary septal defect
Aortopulmonary septal defect is a rare congenital heart disorder accounting for only 0.1-0.3% of congenital heart defects worldwide.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Aortopulmonary septal defect · See more »
Aortopulmonary window
Aortopulmonary window refers to a congenital heart defect similar in some ways to persistent truncus arteriosus.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Aortopulmonary window · See more »
Aphakia
Aphakia is the absence of the lens of the eye, due to surgical removal, a perforating wound or ulcer, or congenital anomaly.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Aphakia · See more »
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.".
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Aplasia · See more »
Arm
In human anatomy, the arm is the part of the upper limb between the glenohumeral joint (shoulder joint) and the elbow joint.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Arm · See more »
Arteriovenous malformation
Arteriovenous malformation (AVM) is an abnormal connection between arteries and veins, bypassing the capillary system.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Arteriovenous malformation · See more »
Arthrogryposis
Arthrogryposis multiplex congenital (AMC), or simply arthrogryposis, describes congenital joint contracture in two or more areas of the body.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Arthrogryposis · See more »
Asphyxiating thoracic dysplasia
Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Asphyxiating thoracic dysplasia · See more »
Asplenia
Asplenia refers to the absence of normal spleen function and is associated with some serious infection risks.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Asplenia · See more »
Athelia (disease)
Athelia is the congenital absence of one or both nipples.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Athelia (disease) · See more »
Atresia
Atresia is a condition in which an orifice or passage in the body is (usually abnormally) closed or absent.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Atresia · See more »
Atrial septal defect
Atrial septal defect (ASD) is a heart defect in which blood flows between the atria (upper chambers) of the heart.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Atrial septal defect · See more »
Atrioventricular
Atrioventricular (having to do with an atrium and ventricle) can refer to.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Atrioventricular · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Atrioventricular septal defect · See more »
Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Autosome · See more »
Bardet–Biedl syndrome
Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Bardet–Biedl syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Beckwith–Wiedemann syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Bicornuate uterus · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Bifid rib · See more »
Bile duct
A bile duct is any of a number of long tube-like structures that carry bile, and is present in most vertebrates.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Bile duct · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Biliary atresia · See more »
Birth defect
A birth defect, also known as a congenital disorder, is a condition present at birth regardless of its cause.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Birth defect · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Birthmark · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Bladder exstrophy · See more »
Blepharophimosis
Blepharophimosis is a congenital condition characterized by a horizontally narrow palpebral fissure.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Blepharophimosis · See more »
Brain
The brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Brain · See more »
Breast
The breast is one of two prominences located on the upper ventral region of the torso of primates.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Breast · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Broad ligament of the uterus · See more »
Bronchiectasis
Bronchiectasis is a disease in which there is permanent enlargement of parts of the airways of the lung.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Bronchiectasis · See more »
Bronchomalacia
Bronchomalacia is a term for weak cartilage in the walls of the bronchial tubes, often occurring in children under six months.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Bronchomalacia · See more »
Bronchus
A bronchus, is a passage of airway in the respiratory system that conducts air into the lungs.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Bronchus · See more »
Buphthalmos
Buphthalmos (plural: buphthalmoses) is enlargement of the eyeball and is most commonly seen in infants and young children.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Buphthalmos · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Camurati–Engelmann disease · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Capillary hemangioma · See more »
Cataract
A cataract is a clouding of the lens in the eye which leads to a decrease in vision.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cataract · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cauda equina · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cephalic disorder · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cerebral aqueduct · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cervical agenesis · See more »
Cervical rib
A cervical rib in humans is an extra rib which arises from the seventh cervical vertebra.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cervical rib · See more »
Cervix
The cervix or cervix uteri (neck of the uterus) is the lower part of the uterus in the human female reproductive system.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cervix · See more »
Chiari malformation
Chiari malformations (CMs) are structural defects in the cerebellum.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Chiari malformation · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Choanal atresia · See more »
Choledochal cysts
Choledochal cysts (a.k.a. bile duct cyst) are congenital conditions involving cystic dilatation of bile ducts.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Choledochal cysts · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Chondrodysplasia punctata · See more »
Chondrodystrophy
Chondrodystrophy (literally, "cartilage maldevelopment") refers to a skeletal disorder caused by one of myriad genetic mutations that can affect the development of cartilage.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Chondrodystrophy · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Chordee · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Choroid · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Chromosomal fragile site · See more »
Chromosomal inversion
An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Chromosomal inversion · See more »
Chromosomal translocation
In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Chromosomal translocation · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Chromosome · See more »
Chromosome 4
Chromosome 4 is one of the 23 pairs of chromosomes in humans.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Chromosome 4 · See more »
Chromosome 5
Chromosome 5 is one of the 23 pairs of chromosomes in humans.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Chromosome 5 · See more »
Chromosome abnormality
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Chromosome abnormality · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Circulatory system · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cleft lip and cleft palate · See more »
Cleidocranial dysostosis
Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cleidocranial dysostosis · See more »
Clitoris
The clitoris is a female sex organ present in mammals, ostriches and a limited number of other animals.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Clitoris · See more »
Clubfoot
Clubfoot is a birth defect where one or both feet are rotated inwards and downwards.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Clubfoot · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Coarctation of the aorta · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cockayne syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Coloboma · See more »
Congenital diaphragmatic hernia
Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Congenital diaphragmatic hernia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Congenital heart defect · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Congenital stenosis of vena cava · See more »
Conjoined twins
Conjoined twins are identical twins joined in utero.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Conjoined twins · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cor triatriatum · See more »
Cornelia de Lange syndrome
Cornelia de Lange syndrome (CdLS) is a very rare genetic disorder present from birth, but not always diagnosed at birth.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cornelia de Lange syndrome · See more »
Coronary artery anomaly
Coronary artery anomalies (or malformation of coronary vessels) are congenital abnormalities in the coronary anatomy of the heart.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Coronary artery anomaly · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Corpus callosum · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Craniosynostosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cri du chat syndrome · See more »
Crouzon syndrome
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Crouzon syndrome · See more »
Cryptorchidism
Cryptorchidism is the absence of one or both testes from the scrotum.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cryptorchidism · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cutis laxa · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cyclopia · See more »
Cyst
A cyst is a closed sac, having a distinct membrane and division compared with the nearby tissue.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cyst · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cystic eyeball · See more »
Cystic kidney disease
Cystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Cystic kidney disease · See more »
Dandy–Walker syndrome
Dandy–Walker syndrome (DWS) is a rare group of congenital human brain malformations.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Dandy–Walker syndrome · See more »
Darier's disease
Darier's disease (DAR), also known as Darier disease, Darier–White disease, Dyskeratosis follicularis, and Keratosis follicularis,Freedberg, et al.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Darier's disease · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Deletion (genetics) · See more »
Dermatoglyphics
Dermatoglyphics (from Ancient Greek derma, "skin", and glyph, "carving") is the scientific study of fingerprints, lines, mounts and shapes of hands.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Dermatoglyphics · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Dextro-Transposition of the great arteries · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Dextrocardia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Diastematomyelia · See more »
Diastrophic dysplasia
Diastrophic dysplasia (DTD) is an autosomal recessive dysplasia which affects cartilage and bone development.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Diastrophic dysplasia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Digestion · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Dolichocephaly · See more »
Dolichocolon
In medicine, a dolichocolon (word derived from ancient Greek dolichos, the long distance in running, and colon) is an abnormally long large intestine.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Dolichocolon · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Dominance (genetics) · See more »
Double aortic arch
Double aortic arch (DAA) is a relatively rare congenital cardiovascular malformation.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Double aortic arch · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Double outlet right ventricle · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Down syndrome · See more »
Dubowitz syndrome
Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a receding chin.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Dubowitz syndrome · See more »
Duct (anatomy)
In anatomy and physiology, a duct is a circumscribed channel leading from an exocrine gland or organ.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Duct (anatomy) · See more »
Duodenum
The duodenum is the first section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Duodenum · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Duplicated ureter · See more »
Dysmorphic feature
A dysmorphic feature is a difference of body structure.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Dysmorphic feature · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Dysplasia · See more »
Ear
The ear is the organ of hearing and, in mammals, balance.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ear · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ebstein's anomaly · See more »
Ectodermal dysplasia
Ectodermal dysplasia (ED) is not a single disorder but a group of syndromes all deriving from abnormalities of the ectodermal structures.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ectodermal dysplasia · See more »
Ectopia lentis
Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ectopia lentis · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ectrodactyly · See more »
Ectromelia
Ectromelia is a congenital condition where long bones are missing or underdeveloped.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ectromelia · See more »
Ectropion
Ectropion is a medical condition in which the lower eyelid turns outwards.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ectropion · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Edwards syndrome · See more »
Ehlers–Danlos syndromes
Ehlers–Danlos syndromes (EDS) are a group of genetic connective tissue disorders.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ehlers–Danlos syndromes · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Eisenmenger's syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ellis–van Creveld syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Encephalocele · See more »
Enchondromatosis
Enchondromatosis is a form of osteochondrodysplasia characterized by a proliferation of enchondromas.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Enchondromatosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Endocardial cushions · See more »
Endocrine gland
Endocrine glands are glands of the endocrine system that secrete their products, hormones, directly into the blood rather than through a duct.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Endocrine gland · See more »
Entropion
Entropion is a medical condition in which the eyelid (usually the lower lid) folds inward.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Entropion · See more »
Epidermolysis bullosa
Epidermolysis bullosa (EB) is a group of genetic conditions that result in easy blistering of the skin and mucous membranes.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Epidermolysis bullosa · See more »
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Epidermolysis bullosa dystrophica · See more »
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex (EBS),is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Epidermolysis bullosa simplex · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Epidermolytic hyperkeratosis · See more »
Epididymis
The epididymis (plural: epididymides or) is a tube that connects a testicle to a vas deferens in the male reproductive system.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Epididymis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Epispadias · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Esophageal atresia · See more »
Esophageal stricture
A benign esophageal stricture, or peptic stricture, is a narrowing or tightening of the esophagus that causes swallowing difficulties.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Esophageal stricture · See more »
Esophageal web
Esophageal webs are thin membranes occurring anywhere along the esophagus.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Esophageal web · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Esophagus · See more »
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".
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and EUROCAT (medicine) · See more »
Exogeny
In a variety of contexts, exogeny or exogeneity is the fact of an action or object originating externally.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Exogeny · See more »
Eyelid
An eyelid is a thin fold of skin that covers and protects the human eye.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Eyelid · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Face · See more »
Facial symmetry
Facial symmetry is one specific measure of bodily asymmetry.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Facial symmetry · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Fallopian tube · See more »
Female
Female (♀) is the sex of an organism, or a part of an organism, that produces non-mobile ova (egg cells).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Female · See more »
Female reproductive system
The female reproductive system is made up of the internal and external sex organs that function in reproduction of new offspring.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Female reproductive system · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Femur · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Fetal alcohol spectrum disorder · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Fetal hydantoin syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Fetal warfarin syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Fibula · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Finger · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Fissure · See more »
Fistula
A fistula is an abnormal connection between two hollow spaces (technically, two epithelialized surfaces), such as blood vessels, intestines, or other hollow organs.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Fistula · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Flat feet · See more »
Foot
The foot (plural feet) is an anatomical structure found in many vertebrates.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Foot · See more »
Forearm
The forearm is the region of the upper limb between the elbow and the wrist.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Forearm · See more »
Fragile X syndrome
Fragile X syndrome (FXS) is a genetic disorder.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Fragile X syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Franceschetti–Klein syndrome · See more »
Frontonasal dysplasia
Frontonasal dysplasia (FND) is a congenital malformation of the midface.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Frontonasal dysplasia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Functional disorder · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Fundus (eye) · See more »
Gallbladder
In vertebrates, the gallbladder is a small hollow organ where bile is stored and concentrated before it is released into the small intestine.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Gallbladder · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Gastrointestinal tract · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Gastroschisis · See more »
Gene duplication
Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Gene duplication · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Genetic marker · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Genu valgum · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Genu varum · See more »
Glaucoma
Glaucoma is a group of eye diseases which result in damage to the optic nerve and vision loss.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Glaucoma · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Goldenhar syndrome · See more »
Gonadal dysgenesis
Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in the male or female.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Gonadal dysgenesis · See more »
Great arteries
The great arteries are the primary arteries that carry blood away from the heart, which include.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Great arteries · See more »
Great veins
The term Great veins can refer to either —.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Great veins · See more »
Hailey–Hailey disease
Hailey–Hailey disease, or familial benign chronic pemphigusJames, William; Berger, Timothy; Elston, Dirk (2005).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hailey–Hailey disease · See more »
Hair
Hair is a protein filament that grows from follicles found in the dermis.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hair · See more »
Hair loss
Hair loss, also known as alopecia or baldness, refers to a loss of hair from part of the head or body.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hair loss · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hand · See more »
Harlequin-type ichthyosis
Harlequin-type ichthyosis is a genetic disorder which results in thickened skin over nearly the entire body at birth.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Harlequin-type ichthyosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Health care · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hearing · See more »
Heart
The heart is a muscular organ in most animals, which pumps blood through the blood vessels of the circulatory system.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Heart · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Heart block · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Heinrich Albers-Schönberg · See more »
Hemimelia
Hemimelia comprises.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hemimelia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hereditary multiple exostoses · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hermaphrodite · See more »
Heterochromatin
Heterochromatin is a tightly packed form of DNA or condensed DNA, which comes in multiple varieties.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Heterochromatin · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hiatal hernia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hip · See more »
Hip dislocation
A hip dislocation a disruption of the joint between the femur and pelvis.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hip dislocation · See more »
Hirschsprung's disease
Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hirschsprung's disease · See more »
Holoprosencephaly
Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Holoprosencephaly · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Holt–Oram syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Horseshoe kidney · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Human brain · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Human digestive system · See more »
Human eye
The human eye is an organ which reacts to light and pressure.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Human eye · See more »
Human head
In human anatomy, the head is the upper portion of the human body.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Human head · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Human leg · See more »
Human mouth
In human anatomy, the mouth is the first portion of the alimentary canal that receives food and produces saliva.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Human mouth · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Human musculoskeletal system · See more »
Human nose
The human nose is the protruding part of the face that bears the nostrils.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Human nose · See more »
Human penis
The human penis is an external male intromittent organ that additionally serves as the urinal duct.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Human penis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hydranencephaly · See more »
Hydrocephalus
Hydrocephalus is a condition in which there is an accumulation of cerebrospinal fluid (CSF) within the brain.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hydrocephalus · See more »
Hydrophthalmos
Hydrophthalmos is a congenital form of glaucoma.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hydrophthalmos · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hyperplasia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hypertelorism · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hypertrophy · See more »
Hypochondrogenesis
Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hypochondrogenesis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hypochondroplasia · See more »
Hypoglossia
Hypoglossia is a short, incompletely developed tongue.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hypoglossia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hypohidrotic ectodermal dysplasia · See more »
Hypoplasia
Hypoplasia (from Ancient Greek ὑπo- hypo-, "under" + πλάσις plasis, "formation"; adjective form hypoplastic) is underdevelopment or incomplete development of a tissue or organ.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hypoplasia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hypoplastic left heart syndrome · See more »
Hypoplastic right heart syndrome
Hypoplastic right heart syndrome is a congenital heart defect in which the right atrium and right ventricle are underdeveloped.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hypoplastic right heart syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Hypospadias · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and ICD-10 · See more »
Ichthyosis
Ichthyosis is a family of rare genetic skin disorders characterized by dry, thickened, scaly skin.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ichthyosis · See more »
Ichthyosis vulgaris
Ichthyosis vulgaris (also known as "Autosomal dominant ichthyosis," and "Ichthyosis simplex") is a skin disorder causing dry, scaly skin.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ichthyosis vulgaris · See more »
Ileum
The ileum is the final section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ileum · See more »
Imperforate anus
An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Imperforate anus · See more »
Imperforate hymen
An imperforate hymen is a congenital disorder where a hymen without an opening completely obstructs the vagina.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Imperforate hymen · See more »
Incontinentia pigmenti
Incontinentia pigmenti (IP) is a rare genetic disorder that affects the skin, hair, teeth, nails, and central nervous system.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Incontinentia pigmenti · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Iniencephaly · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Insertion (genetics) · See more »
Integument
In biology, integument is the natural covering of an organism or an organ, such as its skin, husk, shell, or rind.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Integument · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and International Statistical Classification of Diseases and Related Health Problems · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Interrupted aortic arch · See more »
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".
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Intersex · See more »
Intestinal malrotation
Intestinal malrotation is a congenital anomaly of rotation of the midgut (embryologically, the gut undergoes a complex rotation outside the abdomen).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Intestinal malrotation · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Iris (anatomy) · See more »
Jaw
The jaw is any opposable articulated structure at the entrance of the mouth, typically used for grasping and manipulating food.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Jaw · See more »
Jejunum
The jejunum is the second part of the small intestine in humans and most higher vertebrates, including mammals, reptiles, and birds.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Jejunum · See more »
Junctional epidermolysis bullosa (medicine)
Junctional epidermolysis bullosa is a skin condition characterized by blister formation within the lamina lucida of the basement membrane zone.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Junctional epidermolysis bullosa (medicine) · See more »
Karyotype
A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Karyotype · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Keratoglobus · See more »
Kidney
The kidneys are two bean-shaped organs present in left and right sides of the body in vertebrates.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Kidney · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Klinefelter syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Klippel–Feil syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Klippel–Trénaunay syndrome · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Knee · See more »
Labial fusion
Labial fusion is a medical condition of the female genital anatomy where the labia minora become fused together.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Labial fusion · See more »
Lacrimal apparatus
The lacrimal apparatus is the physiological system containing the orbital structures for tear production and drainage.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Lacrimal apparatus · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Lacrimal canaliculi · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Lamellar ichthyosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Large intestine · See more »
Laryngocele
Laryngocele refers to a congenital anomalous air sac communicating with the cavity of the larynx, which may bulge outward on the neck.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Laryngocele · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Laryngomalacia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Larynx · See more »
Lateral aperture
The lateral aperture is a paired structure in human anatomy.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Lateral aperture · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Lens (anatomy) · See more »
Leukonychia
Leukonychia (or leuconychia), also known as white nails or milk spots,James, William; Berger, Timothy; Elston, Dirk (2005).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Leukonychia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Levo-Transposition of the great arteries · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Levocardia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Limb (anatomy) · See more »
Lip
Lips are a visible body part at the mouth of humans and many animals.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Lip · See more »
Lissencephaly
Lissencephaly is a set of rare brain disorders where the whole or parts of the surface of the brain appear smooth.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Lissencephaly · See more »
List of ICD-9 codes 740–759: congenital anomalies
14.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and List of ICD-9 codes 740–759: congenital anomalies · See more »
Liver
The liver, an organ only found in vertebrates, detoxifies various metabolites, synthesizes proteins, and produces biochemicals necessary for digestion.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Liver · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Locus (genetics) · See more »
Low-set ears
Low-set ears are ears with depressed positioning of the pinnae two or more standard deviations below the population average.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Low-set ears · See more »
Lung
The lungs are the primary organs of the respiratory system in humans and many other animals including a few fish and some snails.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Lung · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Lymphedema · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Macrocephaly · See more »
Macrocheilia
Macrocheilia is a condition of permanent swelling of the lip that results from greatly distended lymphatic spaces.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Macrocheilia · See more »
Macroglossia
Macroglossia is the medical term for an unusually large tongue.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Macroglossia · See more »
Macrostomia
Macrostomia, (from the Greek prefix makro- meaning "large" and from Greek στόμα, "mouth") refers to a mouth that is unusually wide.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Macrostomia · See more »
Macrotia
Macrotia refers to an ear which is larger than would be expected.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Macrotia · See more »
Madelung's deformity
Madelung's deformity is usually characterized by malformed wrists and wrist bones and is often associated with Léri-Weill dyschondrosteosis.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Madelung's deformity · See more »
Maffucci syndrome
Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple cavernous hemangioma and phlebolith.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Maffucci syndrome · See more »
Male
A male (♂) organism is the physiological sex that produces sperm.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Male · See more »
Male reproductive system
The male reproductive system consists of a number of sex organs that play a role in the process of human reproduction.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Male reproductive system · See more »
Marfan syndrome
Marfan syndrome (MFS) is a genetic disorder of the connective tissue.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Marfan syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Mastocytosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Möbius syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and McCune–Albright syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Meckel syndrome · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Meckel's diverticulum · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Median aperture · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Mediastinum · See more »
Medical classification
Medical classification, or medical coding, is the process of transforming descriptions of medical diagnoses and procedures into universal medical code numbers.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Medical classification · See more »
Megalencephaly
Megalencephaly (or macrencephaly; abbreviated MEG) is a growth development disorder in which the brain is abnormally large.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Megalencephaly · See more »
Megalocornea
Megalocornea (MGCN, MGCN1) is an extremely rare nonprogressive condition in which the cornea has an enlarged diameter, reaching and exceeding 13 mm.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Megalocornea · See more »
Megaureter
Megaureter is a medical anomaly whereby the ureter is abnormally dilated.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Megaureter · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Metaphyseal dysplasia · See more »
Microcephaly
Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Microcephaly · See more »
Microcheilia
Microcheilia is a congenital disorder where one's lips are unusually small.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Microcheilia · See more »
Microgyrus
A microgyrus is an area of the cerebral cortex that includes only four cortical layers instead of six.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Microgyrus · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Micromastia · See more »
Microphthalmia
Microphthalmia (Greek: μικρός micros.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Microphthalmia · See more »
Microspherophakia
Microspherophakia is a rare congenital autosomal recessive condition where the lens of the eye is smaller than normal and spherically shaped.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Microspherophakia · See more »
Microstomia
Microstomia (micro- a combining form meaning small + -stomia a combining form meaning mouth.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Microstomia · See more »
Microtia
Microtia is a congenital deformity where the pinna (external ear) is underdeveloped.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Microtia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Mitral insufficiency · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Mitral valve · See more »
Mitral valve stenosis
Mitral stenosis is a valvular heart disease characterized by the narrowing of the orifice of the mitral valve of the heart.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Mitral valve stenosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Monilethrix · See more »
Monorchism
Monorchism (also monorchidism) is the state of having only one testicle within the scrotum.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Monorchism · See more »
Monosomy
Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Monosomy · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Mosaic (genetics) · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Mouth · See more »
Multicystic dysplastic kidney
Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney during fetal development.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Multicystic dysplastic kidney · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Multiple abnormalities · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Nail (anatomy) · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Nail–patella syndrome · See more »
Neck
The neck is the part of the body, on many vertebrates, that separates the head from the torso.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Neck · See more »
Neoplasm
Neoplasia is a type of abnormal and excessive growth of tissue.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Neoplasm · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Nervous system · See more »
Neurofibromatosis
Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Neurofibromatosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Neurofibromatosis type I · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Neurofibromatosis type II · See more »
Nevus
Nevus (or nevi if multiple) is a nonspecific medical term for a visible, circumscribed, chronic lesion of the skin or mucosa.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Nevus · See more »
Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Nondisjunction · See more »
Noonan syndrome
Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder and is named after Jacqueline Noonan, a pediatric cardiologist.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Noonan syndrome · See more »
Ollier disease
Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors (enchondroma) develop close to growth plate cartilage.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ollier disease · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Omphalocele · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Onychauxis · See more »
Optic disc
The optic disc or optic nerve head is the point of exit for ganglion cell axons leaving the eye.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Optic disc · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Orbit · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Orofaciodigital syndrome 1 · See more »
Osteochondrodysplasia
Osteochondrodysplasia or skeletal dysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo") and cartilage ("chondro").
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Osteochondrodysplasia · See more »
Osteodystrophy
Osteodystrophy is any dystrophic growth of the bone.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Osteodystrophy · See more »
Osteogenesis imperfecta
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Osteogenesis imperfecta · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Osteopetrosis · See more »
Osteopoikilosis
Osteopoikilosis is a benign, autosomal dominant sclerosing dysplasia of bone characterized by the presence of numerous bone islands in the skeleton.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Osteopoikilosis · See more »
Osteosclerosis
Osteosclerosis is a disorder that is characterized by abnormal hardening of bone and an elevation in bone density.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Osteosclerosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ostium primum atrial septal defect · See more »
Otocephaly
Otocephaly (from the Greek words οτο, meaning "ear", and κεφάλη, meaning "head") is a type of head disorder (cephalic disorder).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Otocephaly · See more »
Ovary
The ovary is an organ found in the female reproductive system that produces an ovum.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ovary · See more »
Overgrowth syndrome
Overgrowth syndromes in children constitute a group of rare disorders that are typical of tissue hypertrophy.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Overgrowth syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Overriding aorta · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Oxycephaly · See more »
Pachygyria
Pachygyria (from the Greek "pachy" meaning "thick" or "fat" gyri) is a congenital malformation of the cerebral hemisphere.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pachygyria · See more »
Pachyonychia congenita
Pachyonychia congenita is an autosomal dominant skin disorder.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pachyonychia congenita · See more »
Palate
The palate is the roof of the mouth in humans and other mammals.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Palate · See more »
Palmoplantar keratoderma
Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soles.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Palmoplantar keratoderma · See more »
Pancreas
The pancreas is a glandular organ in the digestive system and endocrine system of vertebrates.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pancreas · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pancreatic duct · See more »
Parathyroid gland
Parathyroid glands are small endocrine glands in the neck of humans and other tetrapods that produce parathyroid hormone.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Parathyroid gland · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Patau syndrome · See more »
Patent ductus arteriosus
Patent ductus arteriosus (PDA) is a condition wherein the ductus arteriosus fails to close after birth.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Patent ductus arteriosus · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pectus carinatum · See more »
Pectus excavatum
Pectus excavatum is a congenital deformity of the anterior thoracic wall in which the sternum and rib cage grow abnormally.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pectus excavatum · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pelvis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Peripartum cardiomyopathy · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Peripheral vascular system · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Persistent cloaca · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Persistent left superior vena cava · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Persistent thyroglossal duct · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Persistent truncus arteriosus · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pes cavus · See more »
Phakomatosis
Phakomatoses refers to a group of neuro-oculo-cutaneous syndromes or neurocutaneous disorders involving structures arising from the embryonic ectoderm.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Phakomatosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pharyngeal groove · See more »
Pharyngeal pouch (embryology)
In the embryonic development of vertebrates, pharyngeal pouches form on the endodermal side between the pharyngeal arches.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pharyngeal pouch (embryology) · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pharynx · See more »
Phocomelia
Phocomelia is a condition that involves malformations of the arms and legs.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Phocomelia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pierre Robin syndrome · See more »
Pigeon toe
Pigeon toe, also known as in-toeing, is a condition which causes the toes to point inward when walking.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pigeon toe · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pili annulati · See more »
Plagiocephaly
Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Plagiocephaly · See more »
Platybasia
Platybasia is a spinal disease of a malformed relationship between the occipital bone and cervical spine.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Platybasia · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Poland syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Polycystic kidney disease · See more »
Polycystic liver disease
Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout normal liver tissue.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Polycystic liver disease · See more »
Polydactyly
Polydactyly or polydactylism, also known as hyperdactyly, is a congenital physical anomaly in humans and animals resulting in supernumerary fingers and/or toes.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Polydactyly · See more »
Polyploid
Polyploid cells and organisms are those containing more than two paired (homologous) sets of chromosomes.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Polyploid · See more »
Polysyndactyly
Polysyndactyly is an hereditary anatomical malformation combining polydactyly and syndactyly.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Polysyndactyly · See more »
Porencephaly
Porencephaly is an extremely rare cephalic disorder involving encephalomalacia.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Porencephaly · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Port-wine stain · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Posterior segment of eyeball · See more »
Potter sequence
Potter sequence is the atypical physical appearance of a baby due to oligohydramnios experienced when in the uterus.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Potter sequence · See more »
Prader–Willi syndrome
Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Prader–Willi syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Preauricular sinus and cyst · See more »
Prometaphase
Prometaphase is the phase of mitosis following prophase and preceding metaphase, in eukaryotic somatic cells.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Prometaphase · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Prostate · See more »
Protruding ear
Prominent ear, otapostasis or bat ear is an abnormally protruding human ear.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Protruding ear · See more »
Prune belly syndrome
Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Prune belly syndrome · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pseudohermaphroditism · See more »
Ptosis (eyelid)
Ptosis (/ˈtoʊsɪs/) is a drooping or falling of the upper eyelid.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ptosis (eyelid) · See more »
Pulmonary atresia
Pulmonary atresia is a congenital malformation of the pulmonary valve in which the valve orifice fails to develop.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pulmonary atresia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pulmonary insufficiency · See more »
Pulmonary pleurae
The pulmonary pleurae (sing. pleura) are the two pleurae of the invaginated sac surrounding each lung and attaching to the thoracic cavity.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pulmonary pleurae · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pulmonary sequestration · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pulmonary valve · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pulmonary valve stenosis · See more »
Pyloric stenosis
Pyloric stenosis is a narrowing of the opening from the stomach to the first part of the small intestine (the pylorus).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Pyloric stenosis · See more »
Rachischisis
Rachischisis (Greek: "rhachis - ῥάχις" - spine, and "schisis - σχίσις" - split) is a developmental birth defect involving the neural tube.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Rachischisis · See more »
Radioulnar synostosis
Radioulnar synostosis is a rare condition where there is an abnormal connection between the radius and ulna bones of the forearm.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Radioulnar synostosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Radius · See more »
Rectovaginal fistula
A rectovaginal fistula is a medical condition where there is a fistula or abnormal connection between the rectum and the vagina.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Rectovaginal fistula · See more »
Rectum
The rectum is the final straight portion of the large intestine in humans and some other mammals, and the gut in others.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Rectum · See more »
Renal agenesis
Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Renal agenesis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Renal artery · See more »
Renal artery stenosis
Renal artery stenosis is the narrowing of one of the renal arteries, most often caused by atherosclerosis or fibromuscular dysplasia.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Renal artery stenosis · See more »
Renal ectopia
Renal ectopia or ectopic kidney describes a kidney that is not located in its usual position.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Renal ectopia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Renal pelvis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Respiratory system · See more »
Retina
The retina is the innermost, light-sensitive "coat", or layer, of shell tissue of the eye of most vertebrates and some molluscs.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Retina · See more »
Rib cage
The rib cage is an arrangement of bones in the thorax of most vertebrates.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Rib cage · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Robertsonian translocation · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Robinow syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Rubinstein–Taybi syndrome · See more »
Salivary gland
The salivary glands in mammals are exocrine glands that produce saliva through a system of ducts.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Salivary gland · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Schizencephaly · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Scimitar syndrome · See more »
Scoliosis
Scoliosis is a medical condition in which a person's spine has a sideways curve.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Scoliosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Scrotum · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Seckel syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Seminal vesicle · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Septo-optic dysplasia · See more »
Septum
In biology, a septum (Latin for something that encloses; plural septa) is a wall, dividing a cavity or structure into smaller ones.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Septum · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Sex chromosome · See more »
Sex organ
A sex organ (or reproductive organ) is any part of an animal's body that is involved in sexual reproduction.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Sex organ · See more »
Short rib – polydactyly syndrome
Short rib – polydactyly syndrome is a family of four closely related dysplasias.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Short rib – polydactyly syndrome · See more »
Short stature
Short stature refers to a height of a human being which is below typical.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Short stature · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Shoulder girdle · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Silver–Russell syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Single transverse palmar crease · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Sinus (anatomy) · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Sirenomelia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Situs inversus · See more »
Sjögren–Larsson syndrome
Sjögren–Larsson syndrome (SLS) is an autosomal recessive form of ichthyosis apparent at birth.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Sjögren–Larsson syndrome · See more »
Skeleton
The skeleton is the body part that forms the supporting structure of an organism.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Skeleton · See more »
Skin
Skin is the soft outer tissue covering vertebrates.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Skin · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Skin tag · See more »
Skull
The skull is a bony structure that forms the head in vertebrates.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Skull · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Small intestine · See more »
Small supernumerary marker chromosome
Humans typically have 22 pairs of autosomal chromosomes in their cells, and a pair of sex chromosomes.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Small supernumerary marker chromosome · See more »
Smith–Lemli–Opitz syndrome
Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn error of cholesterol synthesis.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Smith–Lemli–Opitz syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Sotos syndrome · See more »
Spina bifida
Spina bifida is a birth defect where there is incomplete closing of the backbone and membranes around the spinal cord.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Spina bifida · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Spinal cord · See more »
Spleen
The spleen is an organ found in virtually all vertebrates.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Spleen · See more »
Splenomegaly
Splenomegaly is an enlargement of the spleen.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Splenomegaly · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Spondyloepiphyseal dysplasia congenita · See more »
Spondylolisthesis
Spondylolisthesis is the slippage or displacement of one vertebra compared to another.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Spondylolisthesis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Sprengel's deformity · See more »
Stenosis
A stenosis is an abnormal narrowing in a blood vessel or other tubular organ or structure.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Stenosis · See more »
Stenosis of pulmonary artery
Stenosis of the pulmonary artery is a condition where the pulmonary artery is subject to an abnormal constriction (or stenosis).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Stenosis of pulmonary artery · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Sternocleidomastoid muscle · See more »
Sternum
The sternum or breastbone is a long flat bone located in the center of the chest.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Sternum · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Sturge–Weber syndrome · See more »
Subluxation
In medicine, a subluxation is an incomplete or partial dislocation of a joint or organ.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Subluxation · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Supernumerary nipple · See more »
Syndactyly
Syndactyly (from Greek συν- meaning "together" and δακτυλος meaning "finger") is a condition wherein two or more digits are fused together.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Syndactyly · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Taussig–Bing syndrome · See more »
Testicle
The testicle or testis is the male reproductive gland in all animals, including humans.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Testicle · See more »
Tetralogy of Fallot
Tetralogy of Fallot (TOF) is a type of heart defect present at birth.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Tetralogy of Fallot · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Thanatophoric dysplasia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and The International League of Dermatological Societies · See more »
Thigh
In human anatomy, the thigh is the area between the hip (pelvis) and the knee.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Thigh · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Thoracic diaphragm · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Thorax · See more »
Thyroglossal cyst
A thyroglossal cyst is a fibrous cyst that forms from a persistent thyroglossal duct.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Thyroglossal cyst · See more »
Thyroid
The thyroid gland, or simply the thyroid, is an endocrine gland in the neck, consisting of two lobes connected by an isthmus.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Thyroid · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Tibia · See more »
Toe
Toes are the digits of the foot of a tetrapod.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Toe · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Tongue · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Trachea · See more »
Tracheoesophageal fistula
A tracheoesophageal fistula (TEF, or TOF; see spelling differences) is an abnormal connection (fistula) between the esophagus and the trachea.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Tracheoesophageal fistula · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Tracheomalacia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Transposition of the great vessels · See more »
Treacher Collins syndrome
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Treacher Collins syndrome · See more »
Trichothiodystrophy
Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Trichothiodystrophy · See more »
Tricuspid atresia
Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Tricuspid atresia · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Tricuspid valve · See more »
Tricuspid valve stenosis
Tricuspid Valve Stenosis is a valvular heart disease that narrows the opening of the heart's tricuspid valve.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Tricuspid valve stenosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Trigonocephaly · See more »
Triphalangeal thumb
Triphalangeal thumb (TPT) is a congenital malformation where the thumb has three phalanges instead of two.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Triphalangeal thumb · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Triple X syndrome · See more »
Trisomy
A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Trisomy · See more »
Trisomy 8
Trisomy 8, also known as Warkany syndrome 2, is a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Trisomy 8 · See more »
Trisomy 9
Full trisomy 9 is a lethal chromosomal disorder caused by having three copies (trisomy) of chromosome number 9.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Trisomy 9 · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and True hermaphroditism · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Tuberous sclerosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Turner syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Twin reversed arterial perfusion · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ulna · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Umbilical artery · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Unicornuate uterus · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Upper limb · See more »
Urachal cyst
A urachal cyst is a sinus remaining from the allantois during embryogenesis.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Urachal cyst · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Urachus · See more »
Ureter
In human anatomy, the ureters are tubes made of smooth muscle fibers that propel urine from the kidneys to the urinary bladder.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ureter · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Urethra · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Urinary bladder · See more »
Urinary system
The urinary system, also known as the renal system or urinary tract, consists of the kidneys, ureters, bladder, and the urethra.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Urinary system · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Urticaria pigmentosa · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Uterus · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Uterus didelphys · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and VACTERL association · See more »
Vagina
In mammals, the vagina is the elastic, muscular part of the female genital tract.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Vagina · See more »
Vaginal atresia
Vaginal atresia is a condition in which the vagina is abnormally closed or absent.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Vaginal atresia · See more »
Vaginal septum
A vaginal septum is a vaginal anomaly that is partition within the vagina; such a septum could be either longitudinal or transverse.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Vaginal septum · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Valgus deformity · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Van der Woude syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Varus deformity · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Vas deferens · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Vascular ring · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Ventricular septal defect · See more »
Vertebral column
The vertebral column, also known as the backbone or spine, is part of the axial skeleton.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Vertebral column · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Vitreous body · See more »
Von Hippel–Lindau disease
von Hippel–Lindau disease (VHL), also known as Familial cerebello retinal angiomatosis, is a rare genetic disorder with multisystem involvement.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Von Hippel–Lindau disease · See more »
Vulva
The vulva (wrapper, covering, plural vulvae or vulvas) consists of the external female sex organs.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Vulva · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Weaver syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Webbed neck · See more »
Webbed toes
Webbed toes is the common name for syndactyly affecting the feet.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Webbed toes · See more »
Williams syndrome
Williams syndrome (WS) is a genetic disorder that affects many parts of the body.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Williams syndrome · See more »
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)).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Wolf–Hirschhorn syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and World Health Organization · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and X chromosome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and X-linked ichthyosis · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Xeroderma pigmentosum · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and XX male syndrome · See more »
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).
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and XY sex-determination system · See more »
XYY syndrome
XYY syndrome is a genetic condition in which a male has an extra Y chromosome.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and XYY syndrome · See more »
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.
New!!: ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities and Zellweger syndrome · See more »
Redirects here:
ICD-10 Chapter Q, ICD-10 Chapter Q: Congenital malformations, deformations and chromosomal abnormalities.