List of ICD-9 codes 740-759: Congenital anomalies
Encyclopedia
Nervous system
- Anencephalus and similar anomalies
- Anencephalus
- Spina bifidaSpina bifidaSpina bifida is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are not fully formed and remain unfused and open. If the opening is large enough, this allows a portion of the spinal cord to protrude through...
- Other congenital anomalies of nervous systemNervous systemThe nervous system is an organ system containing a network of specialized cells called neurons that coordinate the actions of an animal and transmit signals between different parts of its body. In most animals the nervous system consists of two parts, central and peripheral. The central nervous...
- Microcephalus
- HydrocephalusHydrocephalusHydrocephalus , also known as "water in the brain," is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head,...
Eye, ear, face and neck
- Congenital anomalies of eyeHuman eyeThe human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...
- Anophthalmos
- Clinical anophthalmos unspecified
- Cystic eyeball congenital
- CryptophthalmosCryptophthalmosCryptophthalmos is a rare congenital anomaly in which the skin is continuous over the eyeball with absence of eyelids. It is classified into three types: complete, incomplete and abortive. Failure of eyelid separation can be associated with maldevelopment of the underlying cornea and microphthalmia...
- Microphthalmos
- BuphthalmosBuphthalmosBuphthalmos is a medical term that describes enlargement of the eyeball and is most commonly seen in infants and young children. It is sometimes referred to as buphthalmia . It usually appears in the newborn period or the first 3 months of life...
- Congenital cataract and lens anomalies
- ColobomaColobomaA coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid or optic disc...
and other anomalies of anterior segmentAnterior segmentThe anterior segment is the front third of the eye that includes the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens.Within the anterior segment are two fluid-filled spaces:...
- AniridiaAniridiaAniridia is the absence of the iris. Aniridia usually involves both eyes. It can be congenital or caused by a penetrant injury. Isolated aniridia is a congenital disorder which is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia,...
- Aniridia
- Congenital anomalies of posterior segment
- Congenital anomalies of eyelids, lacrimal system, and orbitOrbitIn physics, an orbit is the gravitationally curved path of an object around a point in space, for example the orbit of a planet around the center of a star system, such as the Solar System...
- Anophthalmos
- Congenital anomalies of earEarThe ear is the organ that detects sound. It not only receives sound, but also aids in balance and body position. The ear is part of the auditory system....
, faceFaceThe face is a central sense organ complex, for those animals that have one, normally on the ventral surface of the head, and can, depending on the definition in the human case, include the hair, forehead, eyebrow, eyelashes, eyes, nose, ears, cheeks, mouth, lips, philtrum, temple, teeth, skin, and...
, and neckNeckThe neck is the part of the body, on many terrestrial or secondarily aquatic vertebrates, that distinguishes the head from the torso or trunk. The adjective signifying "of the neck" is cervical .-Boner anatomy: The cervical spine:The cervical portion of the human spine comprises seven boney...
- Anomalies of earEarThe ear is the organ that detects sound. It not only receives sound, but also aids in balance and body position. The ear is part of the auditory system....
causing impairment of hearing - Accessory auricle
- Other specified congenital anomalies of earEarThe ear is the organ that detects sound. It not only receives sound, but also aids in balance and body position. The ear is part of the auditory system....
- MacrotiaMacrotiaMacrotia refers to an ear which is larger than would be expected.In some cases, surgery is performed to reduce the size....
- MicrotiaMicrotiaMicrotia, also called microtia-anotia, is a congenital deformity where the pinna is very small and underdeveloped or absent . It can be unilateral or bilateral . It occurs in 1 out of about 8,000–10,000 births. In unilateral microtia, the right ear is most commonly affected...
- Macrotia
- Unspecified congenital anomaly of earEarThe ear is the organ that detects sound. It not only receives sound, but also aids in balance and body position. The ear is part of the auditory system....
- Branchial cleft cystBranchial cleft cystA branchial cleft cyst is an oval, moderately movable cystic mass that develops under the skin in the neck between the sternocleidomastoid muscle and the pharynx.-Pathology:...
or fistulaFistulaIn medicine, a fistula is an abnormal connection or passageway between two epithelium-lined organs or vessels that normally do not connect. It is generally a disease condition, but a fistula may be surgically created for therapeutic reasons.-Locations:Fistulas can develop in various parts of the...
; preauricular sinus - Webbing of neck
- Other specified congenital anomalies of face and neck
- MacrocheiliaMacrocheiliaMacrocheilia is a condition of permanent swelling of the lip that results from greatly distended lymphatic spaces. This causes an abnormal largeness of the lips. This is sometimes seen in leprosy patients.-External links:*...
- Microcheilia
- MacrostomiaMacrostomiaMacrostomia refers to a mouth that is unusually wide.Some cases are treated with surgery.-References:...
- MicrostomiaMicrostomiaMicrostomia is a clinical feature of many craniofacial syndromes, including Freeman-Sheldon syndrome and Sheldon-Hall syndromes . It may present with whistling-face feature, as well, as in Freeman-Sheldon syndrome...
- Macrocheilia
- Anomalies of ear
Circulatory system
- Bulbus cordisBulbus cordisThe bulbus cordis lies ventral to the primitive ventricle after the developing heart assumes its S-shaped form...
anomalies and anomalies of cardiac septal closure- Common truncus
- Transposition of great vessels
- Tetralogy of fallotTetralogy of FallotTetralogy of Fallot is a congenital heart defect which is classically understood to involve four anatomical abnormalities...
- Common ventricle
- Ventricular septal defectVentricular septal defectA ventricular septal defect is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart.The ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes.The membranous...
- Atrial septal defectAtrial septal defectAtrial septal defect is a form of congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The interatrial septum is the tissue that divides the right and left atria...
- Endocardial cushion defects
- Cor biloculare
- Other congenital anomalies of heartHeartThe heart is a myogenic muscular organ found in all animals with a circulatory system , that is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions...
- Tricuspid atresia and stenosis congenital
- Ebstein's anomalyEbstein's anomalyEbstein anomaly is a congenital heart defect in which the opening of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.-Presentation:...
- Congenital stenosis of aortic valve
- Congenital insufficiency of aortic valve
- Congenital mitral stenosis
- Congenital mitral insufficiency
- Hypoplastic left heart syndromeHypoplastic left heart syndromeHypoplastic left heart syndrome , is a rare congenital heart defect in which the left ventricle of the heart is severely underdeveloped.-Causes:...
- Other specified congenital anomalies of heart
- Subaortic stenosis congenital
- Cor triatriatumCor triatriatumCor triatriatum is a congenital heart defect where the left atrium or right atrium is subdivided by a thin membrane, resulting in three atrial chambers . The membrane may be complete or may contain one or more fenestrations of varying size...
- Infundibular pulmonic stenosis congenital
- Congenital obstructive anomalies of heart not elsewhere classified
- Coronary artery anomaly congenital
- Congenital heart block
- Malposition of heart and cardiac apex
- Other specified congenital anomalies of heart
- Brugada syndromeBrugada syndromeThe Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram findings and an increased risk of sudden cardiac death. It is named by the Spanish cardiologists Pedro Brugada and Josep Brugada...
- Brugada syndrome
- Other congenital anomalies of circulatory systemCirculatory systemThe circulatory system is an organ system that passes nutrients , gases, hormones, blood cells, etc...
- Coarctation of aorta
- Interruption of aortic arch
- Other congenital anomalies of aortaAortaThe aorta is the largest artery in the body, originating from the left ventricle of the heart and extending down to the abdomen, where it branches off into two smaller arteries...
- Congenital anomalies of pulmonary arteryPulmonary arteryThe pulmonary arteries carry deoxygenated blood from the heart to the lungs. They are the only arteries that carry deoxygenated blood....
- Congenital anomalies of great veinsGreat veinsThe term Great veins refers to one of the following veins:* Superior vena cava, a large diameter, yet short, vein that carries deoxygenated blood from the upper half of the body to the heart's right atrium...
- Absence or hypoplasia of umbilical arteryUmbilical arteryThe umbilical artery is a paired artery that is found in the abdominal and pelvic regions. In the fetus, it extends into the umbilical cord.-Umbilical arteries in the fetus:...
- Arteriovenous malformationArteriovenous malformationArteriovenous malformation or AVM is an abnormal connection between veins and arteries, usually congenital. This pathology is widely known because of its occurrence in the central nervous system, but can appear in any location. An arteriovenous malformation is a vascular anomaly. It is a...
, unspec. - Other specified anomalies of circulatory systemCirculatory systemThe circulatory system is an organ system that passes nutrients , gases, hormones, blood cells, etc...
- Congenital anomalies of cerebrovascular system
- Spinal vessel anomaly
- Persistent fetal circulationPersistent fetal circulationPersistent fetal circulation is a condition caused by a failure in the systemic circulation and pulmonary circulation to convert from the antenatal circulation pattern to the "normal" pattern....
- Unspecified congenital anomaly of circulatory systemCirculatory systemThe circulatory system is an organ system that passes nutrients , gases, hormones, blood cells, etc...
- Coarctation of aorta
Respiratory system
- Congenital anomalies of respiratory systemRespiratory systemThe respiratory system is the anatomical system of an organism that introduces respiratory gases to the interior and performs gas exchange. In humans and other mammals, the anatomical features of the respiratory system include airways, lungs, and the respiratory muscles...
- Choanal atresiaChoanal atresiaChoanal atresia is a congenital disorder where the back of the nasal passage is blocked, usually by abnormal bony or soft tissue formed during fetal development.-Presentation:It can be unilateral or bilateral....
- Choanal atresia
Digestive system
- Cleft palate
- Cleft palate, unspec.
- Cleft palate w/ cleft lip
- Other congenital anomalies of upper alimentary tract
- Tongue tieAnkyloglossiaAnkyloglossia, commonly known as tongue tied, is a congenital oral anomaly which 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...
- Other congenital anomalies of tongue
- Other specified congenital anomalies of mouth and pharynx
- Congenital tracheoesophageal fistula esophageal atresia and stenosis
- Other specified congenital anomalies of esophagus
- Congenital hypertrophic pyloric stenosisPyloric stenosisPyloric stenosis is a condition that causes severe vomiting in the first few months of life. There is narrowing of the opening from the stomach to the intestines, due to enlargement of the muscle surrounding this opening , which spasms when the stomach empties...
- Congenital hiatus hernia
- Other specified congenital anomalies of stomach
- Other specified congenital anomalies of upper alimentary tract
- Unspecified congenital anomaly of upper alimentary tract
- Tongue tie
- Other congenital anomalies of digestive system
- Meckel's diverticulumMeckel's diverticulumA Meckel's diverticulum, a true congenital diverticulum, is a small bulge in the small intestine present at birth. It is a vestigial remnant of the omphalomesenteric duct , and is the most frequent malformation of the gastrointestinal tract...
- Congenital atresia and stenosis of small intestine
- Imperforate anusImperforate anusAn imperforate anus or anal atresia is a birth defect in which the rectum is malformed. Its cause is unknown.-Features:There are several forms of imperforate anus:* A low lesion, in which the colon remains close to the skin...
- Hirschsprung's diseaseHirschsprung's diseaseHirschsprung's disease , or congenital aganglionic megacolon is a serious medical problem where the enteric nervous system is missing from the end of the bowel. The enteric nervous system is a complex network of neurons and glia that controls most aspects of intestinal function...
- Congenital anomalies of intestinal fixation
- Other congenital anomalies of intestine
- Anomalies of gallbladder bile ducts and liver
- Congenital anomalies of pancreas
- Other specified congenital anomalies of digestive system
- Unspecified congenital anomaly of digestive system
- Meckel's diverticulum
Genital organs
- Congenital anomalies of genital organs
- Congenital anomalies of ovaries
- Congenital anomalies of fallopian tubes and broad ligaments
- Doubling of uterus
- Other congenital anomalies of uterus
- Anomalies of cervixCervixThe cervix is the lower, narrow portion of the uterus where it joins with the top end of the vagina. It is cylindrical or conical in shape and protrudes through the upper anterior vaginal wall...
, vaginaVaginaThe vagina is a fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles. Female insects and other invertebrates also have a vagina, which is the terminal part of the...
, and external female genitalia- Imperforate hymen
- Undescended testicle
- HypospadiasHypospadiasHypospadias is a birth defect of the urethra in the male that involves an abnormally placed urinary meatus...
and epispadiasEpispadiasAn 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. It can also develop in females when the urethra develops too far anteriorly...
- HypospadiasHypospadiasHypospadias is a birth defect of the urethra in the male that involves an abnormally placed urinary meatus...
- EpispadiasEpispadiasAn 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. It can also develop in females when the urethra develops too far anteriorly...
- Congenital chordee
- MicropenisMicropenisMicropenis is an unusually small penis. A common criterion is a dorsal erect penile length of at least 2.5 standard deviations smaller than the mean human penis size. The condition is usually recognized shortly after birth...
- Hypospadias
- Indeterminate sex and pseudohermaphroditismPseudohermaphroditismPseudohermaphroditism, or pseudo-hermaphroditism, is the condition in which an organism is born with secondary sex characteristics or a phenotype that is different from what would be expected on the basis of the gonadal tissue ....
Urinary system
- Congenital anomalies of urinary systemUrinary systemThe urinary system is the organ system that produces, stores, and eliminates urine. In humans it includes two kidneys, two ureters, the bladder and the urethra.-Kidney:...
- Renal agenesisRenal agenesisRenal agenesis is a unilateral or bilateral medical condition in which one or both fetal kidneys fail to develop leading to oligohydramnios, resulting in a 40-fold increase in perinatal mortality.It can be associated with RET or UPK3A.-Bilateral:...
and dysgenesis - Cystic kidney diseaseCystic kidney diseaseCystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions. With the inclusion of neoplasms with cystic changes, over 40 classifications and subtypes have been identified. Depending on the disease classification, the presentation of disease may be from birth,...
- Obstructive defects of renal pelvisRenal pelvisThe renal pelvis or pyelum is the funnel-like dilated proximal part of the ureter in the kidney.In humans, the renal pelvis is the point of convergence of two or three major calyces...
and ureterUreterIn human anatomy, the ureters are muscular tubes that propel urine from the kidneys to the urinary bladder. In the adult, the ureters are usually long and ~3-4 mm in diameter.... - Other specified anomalies of kidneyKidneyThe kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...
- Renal ectopiaRenal ectopiaRenal ectopia or ectopic kidney describes a kidney that is not located in its usual position. It results from the kidney failing to ascend from its origin in the true pelvis or from a superiorly ascended kidney located in the thorax....
- Horseshoe kidneyHorseshoe kidneyHorseshoe kidney, also known as renal fusion or super kidney, is a congenital disorder affecting about 1 in 400 people. In this disorder, the patient's kidneys fuse together to form a horseshoe-shape during development in the womb...
- Renal ectopia
- Other specified anomalies of ureterUreterIn human anatomy, the ureters are muscular tubes that propel urine from the kidneys to the urinary bladder. In the adult, the ureters are usually long and ~3-4 mm in diameter....
- Ectopic ureterEctopic ureterEctopic ureter is a medical condition where the ureter, rather than terminating at the urinary bladder, terminates at a different site. In males this site is usually the urethra, in females this is usually the urethra or vagina...
- Ectopic ureter
- Exstrophy of urinary bladder
- AtresiaAtresiaAtresia is a condition in which a body orifice or passage in the body is abnormally closed or absent.Examples of atresia include:* Imperforate anus - malformation of the opening between the rectum and anus....
and stenosisStenosisA stenosis is an abnormal narrowing in a blood vessel or other tubular organ or structure.It is also sometimes called a stricture ....
of urethraUrethraIn anatomy, the urethra is a tube that connects the urinary bladder to the genitals for the removal of fluids out of the body. In males, the urethra travels through the penis, and carries semen as well as urine...
and bladder neck - Anomalies of urachusUrachusThe 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...
- Urachal cystUrachal cystA urachal cyst is a sinus remaining from the allantois during embryogenesis. It is a cyst which occurs in the remnants between the umbilicus and bladder. This is a type of cyst occurring in a persistent portion of the urachus, presenting as an extraperitoneal mass in the umbilical region. It is...
- Urachal cyst
- Other specified anomalies of bladderBladderBladder usually refers to an anatomical hollow organBladder may also refer to:-Biology:* Urinary bladder in humans** Urinary bladder ** Bladder control; see Urinary incontinence** Artificial urinary bladder, in humans...
and urethraUrethraIn anatomy, the urethra is a tube that connects the urinary bladder to the genitals for the removal of fluids out of the body. In males, the urethra travels through the penis, and carries semen as well as urine... - Unspecified anomaly of urinary systemUrinary systemThe urinary system is the organ system that produces, stores, and eliminates urine. In humans it includes two kidneys, two ureters, the bladder and the urethra.-Kidney:...
- Renal agenesis
Musculoskeletal system
- Certain congenital musculoskeletal deformities
- TorticollisTorticollisTorticollis, or wryneck, is a stiff neck associated with muscle spasm, classically causing lateral flexion contracture of the cervical spine musculature...
, sternomastoid - Dislocation of hipDislocation of hipDislocation of the hip is a common injury to the hip joint. Dislocation occurs when the ball–shaped head of the femur comes out of the cup–shaped acetabulum set in the pelvis. This may happen to a varying degree. A dislocated hip, much more common in girls than in boys, is a condition...
, unilateral - VarusVarus deformityIn orthopedics, a varus deformity is a term for the inward angulation of the distal segment of a bone or joint. The opposite of varus is called valgus.The terms varus and valgus always refer to the direction that the distal segment of the joint points....
deformities of feetFootThe foot is an anatomical structure found in many vertebrates. It is the terminal portion of a limb which bears weight and allows locomotion. In many animals with feet, the foot is a separate organ at the terminal part of the leg made up of one or more segments or bones, generally including claws...
- Talipes equinovarus
- Valgus deformities of feetFootThe foot is an anatomical structure found in many vertebrates. It is the terminal portion of a limb which bears weight and allows locomotion. In many animals with feet, the foot is a separate organ at the terminal part of the leg made up of one or more segments or bones, generally including claws...
- Other specified nonteratogenic anomalies
- Pectus excavatumPectus excavatumPectus excavatum is the most common congenital deformity of the anterior wall of the chest, in which several ribs and the sternum grow abnormally. This produces a caved-in or sunken appearance of the chest...
- Pectus excavatum
- Torticollis
- Other congenital anomalies of limbsLimb (anatomy)A limb is a jointed, or prehensile , appendage of the human or other animal body....
- PolydactylyPolydactylyPolydactyly or polydactylism , also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes....
- SyndactylySyndactylySyndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and kangaroo, but is an unusual condition in humans.-Classification:...
- Other congenital anomalies of upper limb including shoulder girdle
- Madelung's deformityMadelung's deformityMadelung's deformity is usually characterized by malformed wrists and wrist bones and short stature and is often associated with Léri-Weill dyschondrosteosis...
- Acrocephalosyndactyly
- Apert syndromeApert syndromeApert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible...
- Apert syndrome
- Madelung's deformity
- Limb anomaly, unspec.
- Polydactyly
- Other congenital musculoskeletal anomalies
- Anomalies of spineVertebral columnIn human anatomy, the vertebral column is a column usually consisting of 24 articulating vertebrae, and 9 fused vertebrae in the sacrum and the coccyx. It is situated in the dorsal aspect of the torso, separated by intervertebral discs...
- SpondylolisthesisSpondylolisthesisSpondylolisthesis describes the anterior or posterior displacement of a vertebra or the vertebral column in relation to the vertebrae below. It was first described in 1782 by Belgian obstetrician, Dr. Herbinaux. He reported a bony prominence anterior to the sacrum that obstructed the vagina of a...
- Klippel-Feil syndromeKlippel-Feil syndromeKlippel–Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any 2 of the 7 cervical vertebrae....
- Spina bifida occulta
- Spondylolisthesis
- Cervical ribCervical ribA cervical rib is a supernumerary rib which arises from the seventh cervical vertebra. It is a congenital abnormality located above the normal first rib. A cervical rib is present in only about 1 in 500 of people; in even rarer cases, an individual may have two cervical ribs...
- Other congenital anomalies of ribs and sternum
- ChondrodystrophyChondrodystrophyChondrodystrophy refers to a skeletal disorder caused by one of myriad genetic mutations that can affect the development of cartilage....
- Osteodystrophies
- Osteogenesis imperfectaOsteogenesis imperfectaOsteogenesis imperfecta is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen...
- Osteogenesis imperfecta
- Congenital anomalies of diaphragm
- Congenital anomalies of abdominal wall
- Other specified congenital anomalies of muscle tendon fascia and connective tissue
- Congenital absence of muscle and tendon
- Accessory muscle
- Ehlers-Danlos syndromeEhlers-Danlos syndromeEhlers–Danlos syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen . The collagen in connective tissue helps tissues to resist deformation...
- Anomalies of spine
Integument
- Congenital anomalies of the integument
- Other specified anomalies of skinSkin-Dermis:The dermis is the layer of skin beneath the epidermis that consists of connective tissue and cushions the body from stress and strain. The dermis is tightly connected to the epidermis by a basement membrane. It also harbors many Mechanoreceptors that provide the sense of touch and heat...
- Birthmarks
- Other specified congenital anomalies of skin
- Bloom syndromeBloom syndromeBloom's syndrome , also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. The condition was discovered and first described by dermatologist Dr...
- Epidermolysis bullosaEpidermolysis bullosaEpidermolysis bullosa is an inherited connective tissue disease causing blisters in the skin and mucosal membranes, with an incidence of 1/50,000. Its severity ranges from mild to lethal. It is caused by a mutation in the keratin or collagen gene....
- Pseudoxanthoma elasticumPseudoxanthoma elasticumPseudoxanthoma elasticum , also known as Grönblad–Strandberg syndrome, is a genetic disease that causes fragmentation and mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis...
- Bloom syndrome
- Supernumerary nippleSupernumerary nippleA supernumerary nipple is an additional nipple occurring in mammals, including humans...
- Other specified anomalies of skin
Chromosomal anomalies
- Chromosomal anomalies
- Down syndromeDown syndromeDown syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...
- Patau's syndrome
- Edward's syndrome
- AutosomalAutosomeAn autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
deletionGenetic deletionIn genetics, a deletion is a mutation in which a part of a chromosome or a sequence of DNA is missing. Deletion is the loss of genetic material. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome...
syndromes- Cri du chatCri du chatCri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term referring to the characteristic cat-like cry of affected children. It was first described by...
- Velo-cardio-facial syndrome
- Other microdeletions
- Miller-Dieker syndromeMiller-Dieker syndromeMiller–Dieker syndrome , also called Miller–Dieker lissencephaly syndrome and chromosome 17p13.3 deletion syndrome, is an autosomal dominant congenital disorder characterized by a developmental defect of the brain, caused by incomplete neuronal migration.This syndrome should not be confused with...
- Smith-Magenis syndromeSmith-Magenis syndromeSmith–Magenis Syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate mental retardation, distinctive facial features, sleep disturbances, and behavioral problems...
- Miller-Dieker syndrome
- Cri du chat
- Balanced autosomalAutosomeAn autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
translocationChromosomal translocationIn genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes. A gene fusion may be created when the translocation joins two otherwise separated genes, the occurrence of which is common in cancer. It is detected on...
in normal individual - Other conditions due to autosomalAutosomeAn autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
anomalies - Gonadal dysgenesisGonadal dysgenesisGonadal dysgenesis is a term used to describe multiple reproductive system development disorders. They are conditions of genetic origin. It is characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo....
- Turner's syndrome
- XO syndrome
- Klinefelter's syndromeKlinefelter's syndromeKlinefelter syndrome, 46/47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome...
- Other conditions due to sex chromosome anomalies
- Conditions due to anomaly of unspecified chromosomeChromosomeA chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
- Down syndrome
Other
- Other and unspecified congenital anomalies
- Anomalies of spleen, congenital
- Anomalies of adrenal gland, congenital
- Anomalies of other endocrine glandsEndocrine glandsEndocrine glands are glands of the endocrine system that secrete their products, hormones, directly into the blood rather than through a duct. The main endocrine glands include the pituitary gland, pancreas, ovaries, testes, thyroid gland, and adrenal glands. The hypothalamus is a neuroendocrine...
, congenital - Situs inversusSitus inversusSitus inversus is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. The normal arrangement is known as situs solitus...
- Conjoined twinsConjoined twinsConjoined twins are identical twins whose bodies are joined in utero. A rare phenomenon, the occurrence is estimated to range from 1 in 50,000 births to 1 in 100,000 births, with a somewhat higher incidence in Southwest Asia and Africa. Approximately half are stillborn, and a smaller fraction of...
- Tuberous sclerosisTuberous sclerosisTuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral...
- Other congenital hamartoses, not elsewhere classified
- Cowden syndromeCowden syndromeCowden syndrome is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer....
- Cowden syndrome
- Multiple congenital anomalies, so described
- Other specified congenital anomalies
- Prader-Willi syndromePrader-Willi syndromePrader–Willi syndrome is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome...
- Marfan syndromeMarfan syndromeMarfan syndrome is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers....
- Fragile X syndromeFragile X syndromeFragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...
- Other specified congenital anomalies
- Prader-Willi syndrome
- Congenital anomaly, unspecified
See also
- List of ICD-9 codes
- ICD-10 Chapter Q: Congenital malformations, deformations and chromosomal abnormalities
- Congenital disorderCongenital disorderA congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...