A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ICD10DescriptionMattersWeightLink
Q000AnencephalyNo0View
Q001CraniorachischisisNo0View
Q002IniencephalyNo0View
Q010Frontal encephaloceleNo0View
Q011Nasofrontal encephaloceleNo0View
Q012Occipital encephaloceleNo0View
Q018Encephalocele of other sitesNo0View
Q019Encephalocele, unspecifiedNo0View
Q02XMicrocephalyNo0View
Q030Malformations of aqueduct of SylviusNo0View
Q031Atresia of foramina of Magendie and LuschkaNo0View
Q038Other congenital hydrocephalusNo0View
Q039Congenital hydrocephalus, unspecifiedNo0View
Q040Congenital malformations of corpus callosumNo0View
Q041ArhinencephalyNo0View
Q042HoloprosencephalyNo0View
Q043Other reduction deformities of brainNo0View
Q044Septo-optic dysplasiaNo0View
Q045MegalencephalyNo0View
Q046Congenital cerebral cystsNo0View
Q048Other specified congenital malformations of brainNo0View
Q049Congenital malformation of brain, unspecifiedNo0View
Q050Cervical spina bifida with hydrocephalusNo0View
Q051Thoracic spina bifida with hydrocephalusNo0View
Q052Lumbar spina bifida with hydrocephalusNo0View
Q053Sacral spina bifida with hydrocephalusNo0View
Q054Unspecified spina bifida with hydrocephalusNo0View
Q055Cervical spina bifida without hydrocephalusNo0View
Q056Thoracic spina bifida without hydrocephalusNo0View
Q057Lumbar spina bifida without hydrocephalusNo0View
Q058Sacral spina bifida without hydrocephalusNo0View
Q059Spina bifida, unspecifiedNo0View
Q060AmyeliaNo0View
Q061Hypoplasia and dysplasia of spinal cordNo0View
Q062DiastematomyeliaNo0View
Q063Other congenital cauda equina malformationsNo0View
Q064HydromyeliaNo0View
Q068Other specified congenital malformations of spinal cordNo0View
Q069Congenital malformation of spinal cord, unspecifiedNo0View
Q070Arnold-Chiari syndromeNo0View
Q078Other specified congenital malformations of nervous systemNo0View
Q079Congenital malformation of nervous system, unspecifiedNo0View
Q100Congenital ptosisNo0View
Q101Congenital ectropionNo0View
Q102Congenital entropionNo0View
Q103Other congenital malformations of eyelidNo0View
Q104Absence and agenesis of lacrimal apparatusNo0View
Q105Congenital stenosis and stricture of lacrimal ductNo0View
Q106Other congenital malformations of lacrimal apparatusNo0View
Q107Congenital malformation of orbitNo0View
Q110Cystic eyeballNo0View
Q111Other anophthalmosNo0View
Q112MicrophthalmosNo0View
Q113MacrophthalmosNo0View
Q120Congenital cataractNo0View
Q121Congenital displaced lensNo0View
Q122Coloboma of lensNo0View
Q123Congenital aphakiaNo0View
Q124SpherophakiaNo0View
Q128Other congenital lens malformationsNo0View
Q129Congenital lens malformation, unspecifiedNo0View
Q130Coloboma of irisNo0View
Q131Absence of irisNo0View
Q132Other congenital malformations of irisNo0View
Q133Congenital corneal opacityNo0View
Q134Other congenital corneal malformationsNo0View
Q135Blue scleraNo0View
Q138Other congenital malformations of anterior segment of eyeNo0View
Q139Congenital malformation of anterior segment of eye, unspecifiedNo0View
Q140Congenital malformation of vitreous humourNo0View
Q141Congenital malformation of retinaNo0View
Q142Congenital malformation of optic discNo0View
Q143Congenital malformation of choroidNo0View
Q148Other congenital malformations of posterior segment of eyeNo0View
Q149Congenital malformation of posterior segment of eye, unspecifiedNo0View
Q150Congenital glaucomaNo0View
Q158Other specified congenital malformations of eyeNo0View
Q159Congenital malformation of eye, unspecifiedNo0View
Q160Congenital absence of (ear) auricleNo0View
Q161Congenital absence, atresia and stricture of auditory canal (external)No0View
Q162Absence of eustachian tubeNo0View
Q163Congenital malformation of ear ossiclesNo0View
Q164Other congenital malformations of middle earNo0View
Q165Congenital malformation of inner earNo0View
Q169Congenital malformation of ear causing impairment of hearing, unspecifiedNo0View
Q170Accessory auricleNo0View
Q171MacrotiaNo0View
Q172MicrotiaNo0View
Q173Other misshapen earNo0View
Q174Misplaced earNo0View
Q175Prominent earNo0View
Q178Other specified congenital malformations of earNo0View
Q179Congenital malformation of ear, unspecifiedNo0View
Q180Sinus, fistula and cyst of branchial cleftNo0View
Q181Preauricular sinus and cystNo0View
Q182Other branchial cleft malformationsNo0View
Q183Webbing of neckNo0View
Q184MacrostomiaNo0View
Q185MicrostomiaNo0View
Q186MacrocheiliaNo0View
Q187MicrocheiliaNo0View
Q188Other specified congenital malformations of face and neckNo0View
Q189Congenital malformation of face and neck, unspecifiedNo0View
Q200Common arterial trunkYes2View
Q201Double outlet right ventricleYes2View
Q202Double outlet left ventricleYes2View
Q203Discordant ventriculoarterial connectionYes2View
Q204Double inlet ventricleYes2View
Q205Discordant atrioventricular connectionYes2View
Q206Isomerism of atrial appendagesYes2View
Q208Other congenital malformations of cardiac chambers and connectionsYes2View
Q209Congenital malformation of cardiac chambers and connections, unspecifiedYes2View
Q210Ventricular septal defectYes2View
Q211Atrial septal defectYes2View
Q212Atrioventricular septal defectYes2View
Q213Tetralogy of FallotYes2View
Q214Aortopulmonary septal defectYes2View
Q218Other congenital malformations of cardiac septaYes2View
Q219Congenital malformation of cardiac septum, unspecifiedYes2View
Q220Pulmonary valve atresiaYes2View
Q221Congenital pulmonary valve stenosisYes2View
Q222Congenital pulmonary valve insufficiencyYes2View
Q223Other congenital malformations of pulmonary valveYes2View
Q224Congenital tricuspid stenosisYes2View
Q225Ebstein anomalyYes2View
Q226Hypoplastic right heart syndromeYes2View
Q228Other congenital malformations of tricuspid valveYes2View
Q229Congenital malformation of tricuspid valve, unspecifiedYes2View
Q230Congenital stenosis of aortic valveYes2View
Q231Congenital insufficiency of aortic valveYes2View
Q232Congenital mitral stenosisYes2View
Q233Congenital mitral insufficiencyYes2View
Q234Hypoplastic left heart syndromeYes2View
Q238Other congenital malformations of aortic and mitral valvesYes2View
Q239Congenital malformation of aortic and mitral valves, unspecifiedYes2View
Q240DextrocardiaNo0View
Q241LaevocardiaYes2View
Q242Cor triatriatumYes2View
Q243Pulmonary infundibular stenosisYes2View
Q244Congenital subaortic stenosisYes2View
Q245Malformation of coronary vesselsYes2View
Q246Congenital heart blockYes2View
Q248Other specified congenital malformations of heartYes2View
Q249Congenital malformation of heart, unspecifiedYes2View
Q250Patent ductus arteriosusYes1View
Q251Coarctation of aortaYes1View
Q252Atresia of aortaYes1View
Q253Stenosis of aortaYes1View
Q254Other congenital malformations of aortaYes1View
Q255Atresia of pulmonary arteryYes1View
Q256Stenosis of pulmonary arteryYes1View
Q257Other congenital malformations of pulmonary arteryYes1View
Q258Other congenital malformations of great arteriesYes1View
Q259Congenital malformation of great arteries, unspecifiedYes1View
Q260Congenital stenosis of vena cavaYes1View
Q261Persistent left superior vena cavaYes1View
Q262Total anomalous pulmonary venous connectionYes1View
Q263Partial anomalous pulmonary venous connectionYes1View
Q264Anomalous pulmonary venous connection, unspecifiedYes1View
Q265Anomalous portal venous connectionYes1View
Q266Portal vein-hepatic artery fistulaNo0View
Q268Other congenital malformations of great veinsNo0View
Q269Congenital malformation of great vein, unspecifiedNo0View
Q270Congenital absence and hypoplasia of umbilical arteryNo0View
Q271Congenital renal artery stenosisNo0View
Q272Other congenital malformations of renal arteryNo0View
Q273Peripheral arteriovenous malformationNo0View
Q274Congenital phlebectasiaNo0View
Q278Other specified congenital malformations of peripheral vascular systemNo0View
Q279Congenital malformation of peripheral vascular system, unspecifiedNo0View
Q280Arteriovenous malformation of precerebral vesselsNo0View
Q281Other malformations of precerebral vesselsNo0View
Q282Arteriovenous malformation of cerebral vesselsNo0View
Q283Other malformations of cerebral vesselsNo0View
Q288Other specified congenital malformations of circulatory systemNo0View
Q289Congenital malformation of circulatory system, unspecifiedNo0View
Q300Choanal atresiaNo0View
Q301Agenesis and underdevelopment of noseNo0View
Q302Fissured, notched and cleft noseNo0View
Q303Congenital perforated nasal septumNo0View
Q308Other congenital malformations of noseNo0View
Q309Congenital malformation of nose, unspecifiedNo0View
Q310Web of larynxYes1View
Q311Congenital subglottic stenosisYes1View
Q312Laryngeal hypoplasiaYes1View
Q313LaryngoceleYes1View
Q315Congenital laryngomalaciaYes1View
Q318Other congenital malformations of larynxYes1View
Q319Congenital malformation of larynx, unspecifiedYes1View
Q320Congenital tracheomalaciaYes1View
Q321Other congenital malformations of tracheaYes1View
Q322Congenital bronchomalaciaNo0View
Q323Congenital stenosis of bronchusNo0View
Q324Other congenital malformations of bronchusNo0View
Q330Congenital cystic lungNo0View
Q331Accessory lobe of lungNo0View
Q332Sequestration of lungNo0View
Q333Agenesis of lungNo0View
Q334Congenital bronchiectasisNo0View
Q335Ectopic tissue in lungNo0View
Q336Hypoplasia and dysplasia of lungNo0View
Q338Other congenital malformations of lungNo0View
Q339Congenital malformation of lung, unspecifiedNo0View
Q340Anomaly of pleuraNo0View
Q341Congenital cyst of mediastinumNo0View
Q348Other specified congenital malformations of respiratory systemNo0View
Q349Congenital malformation of respiratory system, unspecifiedNo0View
Q351Cleft hard palateNo0View
Q353Cleft soft palateNo0View
Q355Cleft hard palate with cleft soft palateNo0View
Q357Cleft uvulaNo0View
Q359Cleft palate, unspecifiedNo0View
Q360Cleft lip, bilateralNo0View
Q361Cleft lip, medianNo0View
Q369Cleft lip, unilateralNo0View
Q370Cleft hard palate with bilateral cleft lipNo0View
Q371Cleft hard palate with unilateral cleft lipNo0View
Q372Cleft soft palate with bilateral cleft lipNo0View
Q373Cleft soft palate with unilateral cleft lipNo0View
Q374Cleft hard and soft palate with bilateral cleft lipNo0View
Q375Cleft hard and soft palate with unilateral cleft lipNo0View
Q378Unspecified cleft palate with bilateral cleft lipNo0View
Q379Unspecified cleft palate with unilateral cleft lipNo0View
Q380Congenital malformations of lips, not elsewhere classifiedNo0View
Q381AnkyloglossiaNo0View
Q382MacroglossiaYes1View
Q383Other congenital malformations of tongueNo0View
Q384Congenital malformations of salivary glands and ductsNo0View
Q385Congenital malformations of palate, not elsewhere classifiedNo0View
Q386Other congenital malformations of mouthNo0View
Q387Pharyngeal pouchNo0View
Q388Other congenital malformations of pharynxNo0View
Q390Atresia of oesophagus without fistulaNo0View
Q391Atresia of oesophagus with tracheo-oesophageal fistulaNo0View
Q392Congenital tracheo-oesophageal fistula without atresiaNo0View
Q393Congenital stenosis and stricture of oesophagusNo0View
Q394Oesophageal webNo0View
Q395Congenital dilatation of oesophagusNo0View
Q396Diverticulum of oesophagusNo0View
Q398Other congenital malformations of oesophagusNo0View
Q399Congenital malformation of oesophagus, unspecifiedNo0View
Q400Congenital hypertrophic pyloric stenosisNo0View
Q401Congenital hiatus herniaNo0View
Q402Other specified congenital malformations of stomachNo0View
Q403Congenital malformation of stomach, unspecifiedNo0View
Q408Other specified congenital malformations of upper alimentary tractNo0View
Q409Congenital malformation of upper alimentary tract, unspecifiedNo0View
Q410Congenital absence, atresia and stenosis of duodenumNo0View
Q411Congenital absence, atresia and stenosis of jejunumNo0View
Q412Congenital absence, atresia and stenosis of ileumNo0View
Q418Congenital absence, atresia and stenosis of other specified parts of small intestineNo0View
Q419Congenital absence, atresia and stenosis of small intestine, part unspecifiedNo0View
Q420Congenital absence, atresia and stenosis of rectum with fistulaNo0View
Q421Congenital absence, atresia and stenosis of rectum without fistulaNo0View
Q422Congenital absence, atresia and stenosis of anus with fistulaNo0View
Q423Congenital absence, atresia and stenosis of anus without fistulaNo0View
Q428Congenital absence, atresia and stenosis of other parts of large intestineNo0View
Q429Congenital absence, atresia and stenosis of large intestine, part unspecifiedNo0View
Q430Meckel diverticulumNo0View
Q431Hirschsprung diseaseNo0View
Q432Other congenital functional disorders of colonNo0View
Q433Congenital malformations of intestinal fixationNo0View
Q434Duplication of intestineNo0View
Q435Ectopic anusNo0View
Q436Congenital fistula of rectum and anusNo0View
Q437Persistent cloacaNo0View
Q438Other specified congenital malformations of intestineNo0View
Q439Congenital malformation of intestine, unspecifiedNo0View
Q440Agenesis, aplasia and hypoplasia of gallbladderNo0View
Q441Other congenital malformations of gallbladderNo0View
Q442Atresia of bile ductsNo0View
Q443Congenital stenosis and stricture of bile ductsNo0View
Q444Choledochal cystNo0View
Q445Other congenital malformations of bile ductsNo0View
Q446Cystic disease of liverNo0View
Q447Other congenital malformations of liverNo0View
Q450Agenesis, aplasia and hypoplasia of pancreasNo0View
Q451Annular pancreasNo0View
Q452Congenital pancreatic cystNo0View
Q453Other congenital malformations of pancreas and pancreatic ductNo0View
Q458Other specified congenital malformations of digestive systemNo0View
Q459Congenital malformation of digestive system, unspecifiedNo0View
Q500Congenital absence of ovaryNo0View
Q501Developmental ovarian cystNo0View
Q502Congenital torsion of ovaryNo0View
Q503Other congenital malformations of ovaryNo0View
Q504Embryonic cyst of fallopian tubeNo0View
Q505Embryonic cyst of broad ligamentNo0View
Q506Other congenital malformations of fallopian tube and broad ligamentNo0View
Q510Agenesis and aplasia of uterusNo0View
Q511Doubling of uterus with doubling of cervix and vaginaNo0View
Q512Other doubling of uterusNo0View
Q513Bicornate uterusNo0View
Q514Unicornate uterusNo0View
Q515Agenesis and aplasia of cervixNo0View
Q516Embryonic cyst of cervixNo0View
Q517Congenital fistulae between uterus and digestive and urinary tractsNo0View
Q518Other congenital malformations of uterus and cervixNo0View
Q519Congenital malformation of uterus and cervix, unspecifiedNo0View
Q520Congenital absence of vaginaNo0View
Q521Doubling of vaginaNo0View
Q522Congenital rectovaginal fistulaNo0View
Q523Imperforate hymenNo0View
Q524Other congenital malformations of vaginaNo0View
Q525Fusion of labiaNo0View
Q526Congenital malformation of clitorisNo0View
Q527Other congenital malformations of vulvaNo0View
Q528Other specified congenital malformations of female genitaliaNo0View
Q529Congenital malformation of female genitalia, unspecifiedNo0View
Q530Ectopic testisNo0View
Q531Undescended testicle, unilateralNo0View
Q532Undescended testicle, bilateralNo0View
Q539Undescended testicle, unspecifiedNo0View
Q540Hypospadias, balanicNo0View
Q541Hypospadias, penileNo0View
Q542Hypospadias, penoscrotalNo0View
Q543Hypospadias, perinealNo0View
Q544Congenital chordeeNo0View
Q548Other hypospadiasNo0View
Q549Hypospadias, unspecifiedNo0View
Q550Absence and aplasia of testisNo0View
Q551Hypoplasia of testis and scrotumNo0View
Q552Other congenital malformations of testis and scrotumNo0View
Q553Atresia of vas deferensNo0View
Q554Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostateNo0View
Q555Congenital absence and aplasia of penisNo0View
Q556Other congenital malformations of penisNo0View
Q558Other specified congenital malformations of male genital organsNo0View
Q559Congenital malformation of male genital organ, unspecifiedNo0View
Q560Hermaphroditism, not elsewhere classifiedNo0View
Q561Male pseudohermaphroditism, not elsewhere classifiedNo0View
Q562Female pseudohermaphroditism, not elsewhere classifiedNo0View
Q563Pseudohermaphroditism, unspecifiedNo0View
Q564Indeterminate sex, unspecifiedNo0View
Q600Renal agenesis, unilateralNo0View
Q601Renal agenesis, bilateralNo0View
Q602Renal agenesis, unspecifiedNo0View
Q603Renal hypoplasia, unilateralNo0View
Q604Renal hypoplasia, bilateralNo0View
Q605Renal hypoplasia, unspecifiedNo0View
Q606Potter syndromeNo0View
Q610Congenital single renal cystNo0View
Q611Polycystic kidney, autosomal recessiveNo0View
Q612Polycystic kidney, autosomal dominantNo0View
Q613Polycystic kidney, unspecifiedNo0View
Q614Renal dysplasiaNo0View
Q615Medullary cystic kidneyNo0View
Q618Other cystic kidney diseasesNo0View
Q619Cystic kidney disease, unspecifiedNo0View
Q620Congenital hydronephrosisNo0View
Q621Atresia and stenosis of ureterNo0View
Q622Congenital megaloureterNo0View
Q623Other obstructive defects of renal pelvis and ureterNo0View
Q624Agenesis of ureterNo0View
Q625Duplication of ureterNo0View
Q626Malposition of ureterNo0View
Q627Congenital vesico-uretero-renal refluxNo0View
Q628Other congenital malformations of ureterNo0View
Q630Accessory kidneyNo0View
Q631Lobulated, fused and horseshoe kidneyNo0View
Q632Ectopic kidneyNo0View
Q633Hyperplastic and giant kidneyNo0View
Q638Other specified congenital malformations of kidneyNo0View
Q639Congenital malformation of kidney, unspecifiedNo0View
Q640EpispadiasNo0View
Q641Exstrophy of urinary bladderNo0View
Q642Congenital posterior urethral valvesNo0View
Q643Other atresia and stenosis of urethra and bladder neckNo0View
Q644Malformation of urachusNo0View
Q645Congenital absence of bladder and urethraNo0View
Q646Congenital diverticulum of bladderNo0View
Q647Other congenital malformations of bladder and urethraNo0View
Q648Other specified congenital malformations of urinary systemNo0View
Q649Congenital malformation of urinary system, unspecifiedNo0View
Q650Congenital dislocation of hip, unilateralNo0View
Q651Congenital dislocation of hip, bilateralNo0View
Q652Congenital dislocation of hip, unspecifiedNo0View
Q653Congenital subluxation of hip, unilateralNo0View
Q654Congenital subluxation of hip, bilateralNo0View
Q655Congenital subluxation of hip, unspecifiedNo0View
Q656Unstable hipNo0View
Q658Other congenital deformities of hipNo0View
Q659Congenital deformity of hip, unspecifiedNo0View
Q660Talipes equinovarusNo0View
Q661Talipes calcaneovarusNo0View
Q662Metatarsus varusNo0View
Q663Other congenital varus deformities of feetNo0View
Q664Talipes calcaneovalgusNo0View
Q665Congenital pes planusNo0View
Q666Other congenital valgus deformities of feetNo0View
Q667Pes cavusNo0View
Q668Other congenital deformities of feetNo0View
Q669Congenital deformity of feet, unspecifiedNo0View
Q670Facial asymmetryNo0View
Q671Compression faciesNo0View
Q672DolichocephalyNo0View
Q673PlagiocephalyNo0View
Q674Other congenital deformities of skull, face and jawNo0View
Q675Congenital deformity of spineNo0View
Q676Pectus excavatumNo0View
Q677Pectus carinatumNo0View
Q678Other congenital deformities of chestNo0View
Q680Congenital deformity of sternocleidomastoid muscleNo0View
Q681Congenital deformity of handNo0View
Q682Congenital deformity of kneeNo0View
Q683Congenital bowing of femurNo0View
Q684Congenital bowing of tibia and fibulaNo0View
Q685Congenital bowing of long bones of leg, unspecifiedNo0View
Q688Other specified congenital musculoskeletal deformitiesNo0View
Q690Accessory finger(s)No0View
Q691Accessory thumb(s)No0View
Q692Accessory toe(s)No0View
Q699Polydactyly, unspecifiedNo0View
Q700Fused fingersNo0View
Q701Webbed fingersNo0View
Q702Fused toesNo0View
Q703Webbed toesNo0View
Q704PolysyndactylyNo0View
Q709Syndactyly, unspecifiedNo0View
Q710Congenital complete absence of upper limb(s)No0View
Q711Congenital absence of upper arm and forearm with hand presentNo0View
Q712Congenital absence of both forearm and handNo0View
Q713Congenital absence of hand and finger(s)No0View
Q714Longitudinal reduction defect of radiusNo0View
Q715Longitudinal reduction defect of ulnaNo0View
Q716Lobster-claw handNo0View
Q718Other reduction defects of upper limb(s)No0View
Q719Reduction defect of upper limb, unspecifiedNo0View
Q720Congenital complete absence of lower limb(s)No0View
Q721Congenital absence of thigh and lower leg with foot presentNo0View
Q722Congenital absence of both lower leg and footNo0View
Q723Congenital absence of foot and toe(s)No0View
Q724Longitudinal reduction defect of femurNo0View
Q725Longitudinal reduction defect of tibiaNo0View
Q726Longitudinal reduction defect of fibulaNo0View
Q727Split footNo0View
Q728Other reduction defects of lower limb(s)No0View
Q729Reduction defect of lower limb, unspecifiedNo0View
Q730Congenital absence of unspecified limb(s)No0View
Q731Phocomelia, unspecified limb(s)No0View
Q738Other reduction defects of unspecified limb(s)No0View
Q740Other congenital malformations of upper limb(s), including shoulder girdleNo0View
Q741Congenital malformation of kneeNo0View
Q742Other congenital malformations of lower limb(s), including pelvic girdleNo0View
Q743Arthrogryposis multiplex congenitaNo0View
Q748Other specified congenital malformations of limb(s)No0View
Q749Unspecified congenital malformation of limb(s)No0View
Q750CraniosynostosisNo0View
Q751Craniofacial dysostosisYes1View
Q752HypertelorismNo0View
Q753MacrocephalyYes1View
Q754Mandibulofacial dysostosisYes1View
Q755Oculomandibular dysostosisYes1View
Q758Other specified congenital malformations of skull and face bonesYes1View
Q759Congenital malformation of skull and face bones, unspecifiedYes1View
Q760Spina bifida occultaNo0View
Q761Klippel-Feil syndromeYes1View
Q762Congenital spondylolisthesisNo0View
Q763Congenital scoliosis due to congenital bony malformationNo0View
Q764Other congenital malformations of spine, not associated with scoliosisNo0View
Q765Cervical ribNo0View
Q766Other congenital malformations of ribsNo0View
Q767Congenital malformation of sternumNo0View
Q768Other congenital malformations of bony thoraxNo0View
Q769Congenital malformation of bony thorax, unspecifiedNo0View
Q770AchondrogenesisNo0View
Q771Thanatophoric short statureNo0View
Q772Short rib syndromeNo0View
Q773Chondrodysplasia punctataNo0View
Q774AchondroplasiaNo0View
Q775Dystrophic dysplasiaNo0View
Q776Chondroectodermal dysplasiaNo0View
Q777Spondyloepiphyseal dysplasiaNo0View
Q778Other osteochondrodysplasia with defects of growth of tubular bones and spineNo0View
Q779Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecifiedNo0View
Q780Osteogenesis imperfectaNo0View
Q781Polyostotic fibrous dysplasiaNo0View
Q782OsteopetrosisNo0View
Q783Progressive diaphyseal dysplasiaNo0View
Q784EnchondromatosisNo0View
Q785Metaphyseal dysplasiaNo0View
Q786Multiple congenital exostosesNo0View
Q788Other specified osteochondrodysplasiasNo0View
Q789Osteochondrodysplasia, unspecifiedNo0View
Q790Congenital diaphragmatic herniaNo0View
Q791Other congenital malformations of diaphragmNo0View
Q792ExomphalosNo0View
Q793GastroschisisNo0View
Q794Prune belly syndromeNo0View
Q795Other congenital malformations of abdominal wallNo0View
Q796Ehlers-Danlos syndromeYes1View
Q798Other congenital malformations of musculoskeletal systemNo0View
Q799Congenital malformation of musculoskeletal system, unspecifiedNo0View
Q800Ichthyosis vulgarisNo0View
Q801X-linked ichthyosisNo0View
Q802Lamellar ichthyosisNo0View
Q803Congenital bullous ichthyosiform erythrodermaNo0View
Q804Harlequin fetusNo0View
Q808Other congenital ichthyosisNo0View
Q809Congenital ichthyosis, unspecifiedNo0View
Q810Epidermolysis bullosa simplexYes2View
Q811Epidermolysis bullosa letalisYes2View
Q812Epidermolysis bullosa dystrophicaYes2View
Q818Other epidermolysis bullosaYes2View
Q819Epidermolysis bullosa, unspecifiedYes2View
Q820Hereditary lymphoedemaNo0View
Q821Xeroderma pigmentosumNo0View
Q822MastocytosisNo0View
Q823Incontinentia pigmentiNo0View
Q824Ectodermal dysplasia (anhidrotic)No0View
Q825Congenital non-neoplastic naevusNo0View
Q828Other specified congenital malformations of skinNo0View
Q829Congenital malformation of skin, unspecifiedNo0View
Q830Congenital absence of breast with absent nippleNo0View
Q831Accessory breastNo0View
Q832Absent nippleNo0View
Q833Accessory nippleNo0View
Q838Other congenital malformations of breastNo0View
Q839Congenital malformation of breast, unspecifiedNo0View
Q840Congenital alopeciaNo0View
Q841Congenital morphological disturbances of hair, not elsewhere classifiedNo0View
Q842Other congenital malformations of hairNo0View
Q843AnonychiaNo0View
Q844Congenital leukonychiaNo0View
Q845Enlarged and hypertrophic nailsNo0View
Q846Other congenital malformations of nailsNo0View
Q848Other specified congenital malformations of integumentNo0View
Q849Congenital malformation of integument, unspecifiedNo0View
Q850Neurofibromatosis (nonmalignant)Yes1View
Q851Tuberous sclerosisNo0View
Q858Other phakomatoses, not elsewhere classifiedYes1View
Q859Phakomatosis, unspecifiedYes1View
Q860Fetal alcohol syndrome (dysmorphic)No0View
Q861Fetal hydantoin syndromeNo0View
Q862Dysmorphism due to warfarinNo0View
Q868Other congenital malformation syndromes due to known exogenous causesNo0View
Q870Congenital malformation syndromes predominantly affecting facial appearanceYes1View
Q871Congenital malformation syndromes predominantly associated with short statureNo0View
Q872Congenital malformation syndromes predominantly involving limbsNo0View
Q873Congenital malformation syndromes involving early overgrowthNo0View
Q874Marfan syndromeYes1View
Q875Other congenital malformation syndromes with other skeletal changesNo0View
Q878Other specified congenital malformation syndromes, not elsewhere classifiedNo0View
Q890Congenital malformations of spleenNo0View
Q891Congenital malformations of adrenal glandNo0View
Q892Congenital malformations of other endocrine glandsNo0View
Q893Situs inversusYes1View
Q894Conjoined twinsYes2View
Q897Multiple congenital malformations, not elsewhere classifiedYes1View
Q898Other specified congenital malformationsNo0View
Q899Congenital malformation, unspecifiedNo0View
Q900Trisomy 21, meiotic nondisjunctionNo0View
Q901Trisomy 21, mosaicism (mitotic nondisjunction)No0View
Q902Trisomy 21, translocationNo0View
Q909Down syndrome, unspecifiedNo0View
Q910Trisomy 18, meiotic nondisjunctionYes1View
Q911Trisomy 18, mosaicism (mitotic nondisjunction)Yes1View
Q912Trisomy 18, translocationYes1View
Q913Edwards' syndrome, unspecifiedYes1View
Q914Trisomy 13, meiotic nondisjunctionYes1View
Q915Trisomy 13, mosaicism (mitotic nondisjunction)Yes1View
Q916Trisomy 13, translocationYes1View
Q917Patau syndrome, unspecifiedYes1View
Q920Whole chromosome trisomy, meiotic nondisjunctionYes1View
Q921Whole chromosome trisomy, mosaicism (mitotic nondisjunction)Yes1View
Q922Major partial trisomyYes1View
Q923Minor partial trisomyYes1View
Q924Duplications seen only at prometaphaseNo0View
Q925Duplications with other complex rearrangementsNo0View
Q926Extra marker chromosomesNo0View
Q927Triploidy and polyploidyNo0View
Q928Other specified trisomies and partial trisomies of autosomesYes1View
Q929Trisomy and partial trisomy of autosomes, unspecifiedYes1View
Q930Whole chromosome monosomy, meiotic nondisjunctionYes1View
Q931Whole chromosome monosomy, mosaicism (mitotic nondisjunction)Yes1View
Q932Chromosome replaced with ring or dicentricYes1View
Q933Deletion of short arm of chromosome 4Yes1View
Q934Deletion of short arm of chromosome 5Yes1View
Q935Other deletions of part of a chromosomeNo0View
Q936Deletions seen only at prometaphaseNo0View
Q937Deletions with other complex rearrangementsNo0View
Q938Other deletions from the autosomesNo0View
Q939Deletion from autosomes, unspecifiedNo0View
Q950Balanced translocation and insertion in normal individualNo0View
Q951Chromosome inversion in normal individualNo0View
Q952Balanced autosomal rearrangement in abnormal individualNo0View
Q953Balanced sex/autosomal rearrangement in abnormal individualNo0View
Q954Individuals with marker heterochromatinNo0View
Q955Individuals with autosomal fragile siteNo0View
Q958Other balanced rearrangements and structural markersNo0View
Q959Balanced rearrangement and structural marker, unspecifiedNo0View
Q960Karyotype 45,XNo0View
Q961Karyotype 46,X iso (Xq)No0View
Q962Karyotype 46,X with abnormal sex chromosome, except iso (Xq)No0View
Q963Mosaicism, 45,X/46,XX or XYNo0View
Q964Mosaicism, 45,X/other cell line(s) with abnormal sex chromosomeNo0View
Q968Other variants of Turner syndromeNo0View
Q969Turner syndrome, unspecifiedNo0View
Q970Karyotype 47,XXXNo0View
Q971Female with more than three X chromosomesNo0View
Q972Mosaicism, lines with various numbers of X chromosomesNo0View
Q973Female with 46,XY karyotypeNo0View
Q978Other specified sex chromosome abnormalities, female phenotypeNo0View
Q979Sex chromosome abnormality, female phenotype, unspecifiedNo0View
Q980Klinefelter syndrome karyotype 47,XXYNo0View
Q981Klinefelter syndrome, male with more than two X chromosomesNo0View
Q982Klinefelter syndrome, male with 46,XX karyotypeNo0View
Q983Other male with 46,XX karyotypeNo0View
Q984Klinefelter syndrome, unspecifiedNo0View
Q985Karyotype 47,XYYNo0View
Q986Male with structurally abnormal sex chromosomeNo0View
Q987Male with sex chromosome mosaicismNo0View
Q988Other specified sex chromosome abnormalities, male phenotypeNo0View
Q989Sex chromosome abnormality, male phenotype, unspecifiedNo0View
Q990Chimera 46,XX/46,XYNo0View
Q99146,XX true hermaphroditeNo0View
Q992Fragile X chromosomeNo0View
Q998Other specified chromosome abnormalitiesNo0View
Q999Chromosomal abnormality, unspecifiedNo0View