| Q000 | Anencephaly | No | 0 | View |
| Q001 | Craniorachischisis | No | 0 | View |
| Q002 | Iniencephaly | No | 0 | View |
| Q010 | Frontal encephalocele | No | 0 | View |
| Q011 | Nasofrontal encephalocele | No | 0 | View |
| Q012 | Occipital encephalocele | No | 0 | View |
| Q018 | Encephalocele of other sites | No | 0 | View |
| Q019 | Encephalocele, unspecified | No | 0 | View |
| Q02X | Microcephaly | No | 0 | View |
| Q030 | Malformations of aqueduct of Sylvius | No | 0 | View |
| Q031 | Atresia of foramina of Magendie and Luschka | No | 0 | View |
| Q038 | Other congenital hydrocephalus | No | 0 | View |
| Q039 | Congenital hydrocephalus, unspecified | No | 0 | View |
| Q040 | Congenital malformations of corpus callosum | No | 0 | View |
| Q041 | Arhinencephaly | No | 0 | View |
| Q042 | Holoprosencephaly | No | 0 | View |
| Q043 | Other reduction deformities of brain | No | 0 | View |
| Q044 | Septo-optic dysplasia | No | 0 | View |
| Q045 | Megalencephaly | No | 0 | View |
| Q046 | Congenital cerebral cysts | No | 0 | View |
| Q048 | Other specified congenital malformations of brain | No | 0 | View |
| Q049 | Congenital malformation of brain, unspecified | No | 0 | View |
| Q050 | Cervical spina bifida with hydrocephalus | No | 0 | View |
| Q051 | Thoracic spina bifida with hydrocephalus | No | 0 | View |
| Q052 | Lumbar spina bifida with hydrocephalus | No | 0 | View |
| Q053 | Sacral spina bifida with hydrocephalus | No | 0 | View |
| Q054 | Unspecified spina bifida with hydrocephalus | No | 0 | View |
| Q055 | Cervical spina bifida without hydrocephalus | No | 0 | View |
| Q056 | Thoracic spina bifida without hydrocephalus | No | 0 | View |
| Q057 | Lumbar spina bifida without hydrocephalus | No | 0 | View |
| Q058 | Sacral spina bifida without hydrocephalus | No | 0 | View |
| Q059 | Spina bifida, unspecified | No | 0 | View |
| Q060 | Amyelia | No | 0 | View |
| Q061 | Hypoplasia and dysplasia of spinal cord | No | 0 | View |
| Q062 | Diastematomyelia | No | 0 | View |
| Q063 | Other congenital cauda equina malformations | No | 0 | View |
| Q064 | Hydromyelia | No | 0 | View |
| Q068 | Other specified congenital malformations of spinal cord | No | 0 | View |
| Q069 | Congenital malformation of spinal cord, unspecified | No | 0 | View |
| Q070 | Arnold-Chiari syndrome | No | 0 | View |
| Q078 | Other specified congenital malformations of nervous system | No | 0 | View |
| Q079 | Congenital malformation of nervous system, unspecified | No | 0 | View |
| Q100 | Congenital ptosis | No | 0 | View |
| Q101 | Congenital ectropion | No | 0 | View |
| Q102 | Congenital entropion | No | 0 | View |
| Q103 | Other congenital malformations of eyelid | No | 0 | View |
| Q104 | Absence and agenesis of lacrimal apparatus | No | 0 | View |
| Q105 | Congenital stenosis and stricture of lacrimal duct | No | 0 | View |
| Q106 | Other congenital malformations of lacrimal apparatus | No | 0 | View |
| Q107 | Congenital malformation of orbit | No | 0 | View |
| Q110 | Cystic eyeball | No | 0 | View |
| Q111 | Other anophthalmos | No | 0 | View |
| Q112 | Microphthalmos | No | 0 | View |
| Q113 | Macrophthalmos | No | 0 | View |
| Q120 | Congenital cataract | No | 0 | View |
| Q121 | Congenital displaced lens | No | 0 | View |
| Q122 | Coloboma of lens | No | 0 | View |
| Q123 | Congenital aphakia | No | 0 | View |
| Q124 | Spherophakia | No | 0 | View |
| Q128 | Other congenital lens malformations | No | 0 | View |
| Q129 | Congenital lens malformation, unspecified | No | 0 | View |
| Q130 | Coloboma of iris | No | 0 | View |
| Q131 | Absence of iris | No | 0 | View |
| Q132 | Other congenital malformations of iris | No | 0 | View |
| Q133 | Congenital corneal opacity | No | 0 | View |
| Q134 | Other congenital corneal malformations | No | 0 | View |
| Q135 | Blue sclera | No | 0 | View |
| Q138 | Other congenital malformations of anterior segment of eye | No | 0 | View |
| Q139 | Congenital malformation of anterior segment of eye, unspecified | No | 0 | View |
| Q140 | Congenital malformation of vitreous humour | No | 0 | View |
| Q141 | Congenital malformation of retina | No | 0 | View |
| Q142 | Congenital malformation of optic disc | No | 0 | View |
| Q143 | Congenital malformation of choroid | No | 0 | View |
| Q148 | Other congenital malformations of posterior segment of eye | No | 0 | View |
| Q149 | Congenital malformation of posterior segment of eye, unspecified | No | 0 | View |
| Q150 | Congenital glaucoma | No | 0 | View |
| Q158 | Other specified congenital malformations of eye | No | 0 | View |
| Q159 | Congenital malformation of eye, unspecified | No | 0 | View |
| Q160 | Congenital absence of (ear) auricle | No | 0 | View |
| Q161 | Congenital absence, atresia and stricture of auditory canal (external) | No | 0 | View |
| Q162 | Absence of eustachian tube | No | 0 | View |
| Q163 | Congenital malformation of ear ossicles | No | 0 | View |
| Q164 | Other congenital malformations of middle ear | No | 0 | View |
| Q165 | Congenital malformation of inner ear | No | 0 | View |
| Q169 | Congenital malformation of ear causing impairment of hearing, unspecified | No | 0 | View |
| Q170 | Accessory auricle | No | 0 | View |
| Q171 | Macrotia | No | 0 | View |
| Q172 | Microtia | No | 0 | View |
| Q173 | Other misshapen ear | No | 0 | View |
| Q174 | Misplaced ear | No | 0 | View |
| Q175 | Prominent ear | No | 0 | View |
| Q178 | Other specified congenital malformations of ear | No | 0 | View |
| Q179 | Congenital malformation of ear, unspecified | No | 0 | View |
| Q180 | Sinus, fistula and cyst of branchial cleft | No | 0 | View |
| Q181 | Preauricular sinus and cyst | No | 0 | View |
| Q182 | Other branchial cleft malformations | No | 0 | View |
| Q183 | Webbing of neck | No | 0 | View |
| Q184 | Macrostomia | No | 0 | View |
| Q185 | Microstomia | No | 0 | View |
| Q186 | Macrocheilia | No | 0 | View |
| Q187 | Microcheilia | No | 0 | View |
| Q188 | Other specified congenital malformations of face and neck | No | 0 | View |
| Q189 | Congenital malformation of face and neck, unspecified | No | 0 | View |
| Q200 | Common arterial trunk | Yes | 2 | View |
| Q201 | Double outlet right ventricle | Yes | 2 | View |
| Q202 | Double outlet left ventricle | Yes | 2 | View |
| Q203 | Discordant ventriculoarterial connection | Yes | 2 | View |
| Q204 | Double inlet ventricle | Yes | 2 | View |
| Q205 | Discordant atrioventricular connection | Yes | 2 | View |
| Q206 | Isomerism of atrial appendages | Yes | 2 | View |
| Q208 | Other congenital malformations of cardiac chambers and connections | Yes | 2 | View |
| Q209 | Congenital malformation of cardiac chambers and connections, unspecified | Yes | 2 | View |
| Q210 | Ventricular septal defect | Yes | 2 | View |
| Q211 | Atrial septal defect | Yes | 2 | View |
| Q212 | Atrioventricular septal defect | Yes | 2 | View |
| Q213 | Tetralogy of Fallot | Yes | 2 | View |
| Q214 | Aortopulmonary septal defect | Yes | 2 | View |
| Q218 | Other congenital malformations of cardiac septa | Yes | 2 | View |
| Q219 | Congenital malformation of cardiac septum, unspecified | Yes | 2 | View |
| Q220 | Pulmonary valve atresia | Yes | 2 | View |
| Q221 | Congenital pulmonary valve stenosis | Yes | 2 | View |
| Q222 | Congenital pulmonary valve insufficiency | Yes | 2 | View |
| Q223 | Other congenital malformations of pulmonary valve | Yes | 2 | View |
| Q224 | Congenital tricuspid stenosis | Yes | 2 | View |
| Q225 | Ebstein anomaly | Yes | 2 | View |
| Q226 | Hypoplastic right heart syndrome | Yes | 2 | View |
| Q228 | Other congenital malformations of tricuspid valve | Yes | 2 | View |
| Q229 | Congenital malformation of tricuspid valve, unspecified | Yes | 2 | View |
| Q230 | Congenital stenosis of aortic valve | Yes | 2 | View |
| Q231 | Congenital insufficiency of aortic valve | Yes | 2 | View |
| Q232 | Congenital mitral stenosis | Yes | 2 | View |
| Q233 | Congenital mitral insufficiency | Yes | 2 | View |
| Q234 | Hypoplastic left heart syndrome | Yes | 2 | View |
| Q238 | Other congenital malformations of aortic and mitral valves | Yes | 2 | View |
| Q239 | Congenital malformation of aortic and mitral valves, unspecified | Yes | 2 | View |
| Q240 | Dextrocardia | No | 0 | View |
| Q241 | Laevocardia | Yes | 2 | View |
| Q242 | Cor triatriatum | Yes | 2 | View |
| Q243 | Pulmonary infundibular stenosis | Yes | 2 | View |
| Q244 | Congenital subaortic stenosis | Yes | 2 | View |
| Q245 | Malformation of coronary vessels | Yes | 2 | View |
| Q246 | Congenital heart block | Yes | 2 | View |
| Q248 | Other specified congenital malformations of heart | Yes | 2 | View |
| Q249 | Congenital malformation of heart, unspecified | Yes | 2 | View |
| Q250 | Patent ductus arteriosus | Yes | 1 | View |
| Q251 | Coarctation of aorta | Yes | 1 | View |
| Q252 | Atresia of aorta | Yes | 1 | View |
| Q253 | Stenosis of aorta | Yes | 1 | View |
| Q254 | Other congenital malformations of aorta | Yes | 1 | View |
| Q255 | Atresia of pulmonary artery | Yes | 1 | View |
| Q256 | Stenosis of pulmonary artery | Yes | 1 | View |
| Q257 | Other congenital malformations of pulmonary artery | Yes | 1 | View |
| Q258 | Other congenital malformations of great arteries | Yes | 1 | View |
| Q259 | Congenital malformation of great arteries, unspecified | Yes | 1 | View |
| Q260 | Congenital stenosis of vena cava | Yes | 1 | View |
| Q261 | Persistent left superior vena cava | Yes | 1 | View |
| Q262 | Total anomalous pulmonary venous connection | Yes | 1 | View |
| Q263 | Partial anomalous pulmonary venous connection | Yes | 1 | View |
| Q264 | Anomalous pulmonary venous connection, unspecified | Yes | 1 | View |
| Q265 | Anomalous portal venous connection | Yes | 1 | View |
| Q266 | Portal vein-hepatic artery fistula | No | 0 | View |
| Q268 | Other congenital malformations of great veins | No | 0 | View |
| Q269 | Congenital malformation of great vein, unspecified | No | 0 | View |
| Q270 | Congenital absence and hypoplasia of umbilical artery | No | 0 | View |
| Q271 | Congenital renal artery stenosis | No | 0 | View |
| Q272 | Other congenital malformations of renal artery | No | 0 | View |
| Q273 | Peripheral arteriovenous malformation | No | 0 | View |
| Q274 | Congenital phlebectasia | No | 0 | View |
| Q278 | Other specified congenital malformations of peripheral vascular system | No | 0 | View |
| Q279 | Congenital malformation of peripheral vascular system, unspecified | No | 0 | View |
| Q280 | Arteriovenous malformation of precerebral vessels | No | 0 | View |
| Q281 | Other malformations of precerebral vessels | No | 0 | View |
| Q282 | Arteriovenous malformation of cerebral vessels | No | 0 | View |
| Q283 | Other malformations of cerebral vessels | No | 0 | View |
| Q288 | Other specified congenital malformations of circulatory system | No | 0 | View |
| Q289 | Congenital malformation of circulatory system, unspecified | No | 0 | View |
| Q300 | Choanal atresia | No | 0 | View |
| Q301 | Agenesis and underdevelopment of nose | No | 0 | View |
| Q302 | Fissured, notched and cleft nose | No | 0 | View |
| Q303 | Congenital perforated nasal septum | No | 0 | View |
| Q308 | Other congenital malformations of nose | No | 0 | View |
| Q309 | Congenital malformation of nose, unspecified | No | 0 | View |
| Q310 | Web of larynx | Yes | 1 | View |
| Q311 | Congenital subglottic stenosis | Yes | 1 | View |
| Q312 | Laryngeal hypoplasia | Yes | 1 | View |
| Q313 | Laryngocele | Yes | 1 | View |
| Q315 | Congenital laryngomalacia | Yes | 1 | View |
| Q318 | Other congenital malformations of larynx | Yes | 1 | View |
| Q319 | Congenital malformation of larynx, unspecified | Yes | 1 | View |
| Q320 | Congenital tracheomalacia | Yes | 1 | View |
| Q321 | Other congenital malformations of trachea | Yes | 1 | View |
| Q322 | Congenital bronchomalacia | No | 0 | View |
| Q323 | Congenital stenosis of bronchus | No | 0 | View |
| Q324 | Other congenital malformations of bronchus | No | 0 | View |
| Q330 | Congenital cystic lung | No | 0 | View |
| Q331 | Accessory lobe of lung | No | 0 | View |
| Q332 | Sequestration of lung | No | 0 | View |
| Q333 | Agenesis of lung | No | 0 | View |
| Q334 | Congenital bronchiectasis | No | 0 | View |
| Q335 | Ectopic tissue in lung | No | 0 | View |
| Q336 | Hypoplasia and dysplasia of lung | No | 0 | View |
| Q338 | Other congenital malformations of lung | No | 0 | View |
| Q339 | Congenital malformation of lung, unspecified | No | 0 | View |
| Q340 | Anomaly of pleura | No | 0 | View |
| Q341 | Congenital cyst of mediastinum | No | 0 | View |
| Q348 | Other specified congenital malformations of respiratory system | No | 0 | View |
| Q349 | Congenital malformation of respiratory system, unspecified | No | 0 | View |
| Q351 | Cleft hard palate | No | 0 | View |
| Q353 | Cleft soft palate | No | 0 | View |
| Q355 | Cleft hard palate with cleft soft palate | No | 0 | View |
| Q357 | Cleft uvula | No | 0 | View |
| Q359 | Cleft palate, unspecified | No | 0 | View |
| Q360 | Cleft lip, bilateral | No | 0 | View |
| Q361 | Cleft lip, median | No | 0 | View |
| Q369 | Cleft lip, unilateral | No | 0 | View |
| Q370 | Cleft hard palate with bilateral cleft lip | No | 0 | View |
| Q371 | Cleft hard palate with unilateral cleft lip | No | 0 | View |
| Q372 | Cleft soft palate with bilateral cleft lip | No | 0 | View |
| Q373 | Cleft soft palate with unilateral cleft lip | No | 0 | View |
| Q374 | Cleft hard and soft palate with bilateral cleft lip | No | 0 | View |
| Q375 | Cleft hard and soft palate with unilateral cleft lip | No | 0 | View |
| Q378 | Unspecified cleft palate with bilateral cleft lip | No | 0 | View |
| Q379 | Unspecified cleft palate with unilateral cleft lip | No | 0 | View |
| Q380 | Congenital malformations of lips, not elsewhere classified | No | 0 | View |
| Q381 | Ankyloglossia | No | 0 | View |
| Q382 | Macroglossia | Yes | 1 | View |
| Q383 | Other congenital malformations of tongue | No | 0 | View |
| Q384 | Congenital malformations of salivary glands and ducts | No | 0 | View |
| Q385 | Congenital malformations of palate, not elsewhere classified | No | 0 | View |
| Q386 | Other congenital malformations of mouth | No | 0 | View |
| Q387 | Pharyngeal pouch | No | 0 | View |
| Q388 | Other congenital malformations of pharynx | No | 0 | View |
| Q390 | Atresia of oesophagus without fistula | No | 0 | View |
| Q391 | Atresia of oesophagus with tracheo-oesophageal fistula | No | 0 | View |
| Q392 | Congenital tracheo-oesophageal fistula without atresia | No | 0 | View |
| Q393 | Congenital stenosis and stricture of oesophagus | No | 0 | View |
| Q394 | Oesophageal web | No | 0 | View |
| Q395 | Congenital dilatation of oesophagus | No | 0 | View |
| Q396 | Diverticulum of oesophagus | No | 0 | View |
| Q398 | Other congenital malformations of oesophagus | No | 0 | View |
| Q399 | Congenital malformation of oesophagus, unspecified | No | 0 | View |
| Q400 | Congenital hypertrophic pyloric stenosis | No | 0 | View |
| Q401 | Congenital hiatus hernia | No | 0 | View |
| Q402 | Other specified congenital malformations of stomach | No | 0 | View |
| Q403 | Congenital malformation of stomach, unspecified | No | 0 | View |
| Q408 | Other specified congenital malformations of upper alimentary tract | No | 0 | View |
| Q409 | Congenital malformation of upper alimentary tract, unspecified | No | 0 | View |
| Q410 | Congenital absence, atresia and stenosis of duodenum | No | 0 | View |
| Q411 | Congenital absence, atresia and stenosis of jejunum | No | 0 | View |
| Q412 | Congenital absence, atresia and stenosis of ileum | No | 0 | View |
| Q418 | Congenital absence, atresia and stenosis of other specified parts of small intestine | No | 0 | View |
| Q419 | Congenital absence, atresia and stenosis of small intestine, part unspecified | No | 0 | View |
| Q420 | Congenital absence, atresia and stenosis of rectum with fistula | No | 0 | View |
| Q421 | Congenital absence, atresia and stenosis of rectum without fistula | No | 0 | View |
| Q422 | Congenital absence, atresia and stenosis of anus with fistula | No | 0 | View |
| Q423 | Congenital absence, atresia and stenosis of anus without fistula | No | 0 | View |
| Q428 | Congenital absence, atresia and stenosis of other parts of large intestine | No | 0 | View |
| Q429 | Congenital absence, atresia and stenosis of large intestine, part unspecified | No | 0 | View |
| Q430 | Meckel diverticulum | No | 0 | View |
| Q431 | Hirschsprung disease | No | 0 | View |
| Q432 | Other congenital functional disorders of colon | No | 0 | View |
| Q433 | Congenital malformations of intestinal fixation | No | 0 | View |
| Q434 | Duplication of intestine | No | 0 | View |
| Q435 | Ectopic anus | No | 0 | View |
| Q436 | Congenital fistula of rectum and anus | No | 0 | View |
| Q437 | Persistent cloaca | No | 0 | View |
| Q438 | Other specified congenital malformations of intestine | No | 0 | View |
| Q439 | Congenital malformation of intestine, unspecified | No | 0 | View |
| Q440 | Agenesis, aplasia and hypoplasia of gallbladder | No | 0 | View |
| Q441 | Other congenital malformations of gallbladder | No | 0 | View |
| Q442 | Atresia of bile ducts | No | 0 | View |
| Q443 | Congenital stenosis and stricture of bile ducts | No | 0 | View |
| Q444 | Choledochal cyst | No | 0 | View |
| Q445 | Other congenital malformations of bile ducts | No | 0 | View |
| Q446 | Cystic disease of liver | No | 0 | View |
| Q447 | Other congenital malformations of liver | No | 0 | View |
| Q450 | Agenesis, aplasia and hypoplasia of pancreas | No | 0 | View |
| Q451 | Annular pancreas | No | 0 | View |
| Q452 | Congenital pancreatic cyst | No | 0 | View |
| Q453 | Other congenital malformations of pancreas and pancreatic duct | No | 0 | View |
| Q458 | Other specified congenital malformations of digestive system | No | 0 | View |
| Q459 | Congenital malformation of digestive system, unspecified | No | 0 | View |
| Q500 | Congenital absence of ovary | No | 0 | View |
| Q501 | Developmental ovarian cyst | No | 0 | View |
| Q502 | Congenital torsion of ovary | No | 0 | View |
| Q503 | Other congenital malformations of ovary | No | 0 | View |
| Q504 | Embryonic cyst of fallopian tube | No | 0 | View |
| Q505 | Embryonic cyst of broad ligament | No | 0 | View |
| Q506 | Other congenital malformations of fallopian tube and broad ligament | No | 0 | View |
| Q510 | Agenesis and aplasia of uterus | No | 0 | View |
| Q511 | Doubling of uterus with doubling of cervix and vagina | No | 0 | View |
| Q512 | Other doubling of uterus | No | 0 | View |
| Q513 | Bicornate uterus | No | 0 | View |
| Q514 | Unicornate uterus | No | 0 | View |
| Q515 | Agenesis and aplasia of cervix | No | 0 | View |
| Q516 | Embryonic cyst of cervix | No | 0 | View |
| Q517 | Congenital fistulae between uterus and digestive and urinary tracts | No | 0 | View |
| Q518 | Other congenital malformations of uterus and cervix | No | 0 | View |
| Q519 | Congenital malformation of uterus and cervix, unspecified | No | 0 | View |
| Q520 | Congenital absence of vagina | No | 0 | View |
| Q521 | Doubling of vagina | No | 0 | View |
| Q522 | Congenital rectovaginal fistula | No | 0 | View |
| Q523 | Imperforate hymen | No | 0 | View |
| Q524 | Other congenital malformations of vagina | No | 0 | View |
| Q525 | Fusion of labia | No | 0 | View |
| Q526 | Congenital malformation of clitoris | No | 0 | View |
| Q527 | Other congenital malformations of vulva | No | 0 | View |
| Q528 | Other specified congenital malformations of female genitalia | No | 0 | View |
| Q529 | Congenital malformation of female genitalia, unspecified | No | 0 | View |
| Q530 | Ectopic testis | No | 0 | View |
| Q531 | Undescended testicle, unilateral | No | 0 | View |
| Q532 | Undescended testicle, bilateral | No | 0 | View |
| Q539 | Undescended testicle, unspecified | No | 0 | View |
| Q540 | Hypospadias, balanic | No | 0 | View |
| Q541 | Hypospadias, penile | No | 0 | View |
| Q542 | Hypospadias, penoscrotal | No | 0 | View |
| Q543 | Hypospadias, perineal | No | 0 | View |
| Q544 | Congenital chordee | No | 0 | View |
| Q548 | Other hypospadias | No | 0 | View |
| Q549 | Hypospadias, unspecified | No | 0 | View |
| Q550 | Absence and aplasia of testis | No | 0 | View |
| Q551 | Hypoplasia of testis and scrotum | No | 0 | View |
| Q552 | Other congenital malformations of testis and scrotum | No | 0 | View |
| Q553 | Atresia of vas deferens | No | 0 | View |
| Q554 | Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate | No | 0 | View |
| Q555 | Congenital absence and aplasia of penis | No | 0 | View |
| Q556 | Other congenital malformations of penis | No | 0 | View |
| Q558 | Other specified congenital malformations of male genital organs | No | 0 | View |
| Q559 | Congenital malformation of male genital organ, unspecified | No | 0 | View |
| Q560 | Hermaphroditism, not elsewhere classified | No | 0 | View |
| Q561 | Male pseudohermaphroditism, not elsewhere classified | No | 0 | View |
| Q562 | Female pseudohermaphroditism, not elsewhere classified | No | 0 | View |
| Q563 | Pseudohermaphroditism, unspecified | No | 0 | View |
| Q564 | Indeterminate sex, unspecified | No | 0 | View |
| Q600 | Renal agenesis, unilateral | No | 0 | View |
| Q601 | Renal agenesis, bilateral | No | 0 | View |
| Q602 | Renal agenesis, unspecified | No | 0 | View |
| Q603 | Renal hypoplasia, unilateral | No | 0 | View |
| Q604 | Renal hypoplasia, bilateral | No | 0 | View |
| Q605 | Renal hypoplasia, unspecified | No | 0 | View |
| Q606 | Potter syndrome | No | 0 | View |
| Q610 | Congenital single renal cyst | No | 0 | View |
| Q611 | Polycystic kidney, autosomal recessive | No | 0 | View |
| Q612 | Polycystic kidney, autosomal dominant | No | 0 | View |
| Q613 | Polycystic kidney, unspecified | No | 0 | View |
| Q614 | Renal dysplasia | No | 0 | View |
| Q615 | Medullary cystic kidney | No | 0 | View |
| Q618 | Other cystic kidney diseases | No | 0 | View |
| Q619 | Cystic kidney disease, unspecified | No | 0 | View |
| Q620 | Congenital hydronephrosis | No | 0 | View |
| Q621 | Atresia and stenosis of ureter | No | 0 | View |
| Q622 | Congenital megaloureter | No | 0 | View |
| Q623 | Other obstructive defects of renal pelvis and ureter | No | 0 | View |
| Q624 | Agenesis of ureter | No | 0 | View |
| Q625 | Duplication of ureter | No | 0 | View |
| Q626 | Malposition of ureter | No | 0 | View |
| Q627 | Congenital vesico-uretero-renal reflux | No | 0 | View |
| Q628 | Other congenital malformations of ureter | No | 0 | View |
| Q630 | Accessory kidney | No | 0 | View |
| Q631 | Lobulated, fused and horseshoe kidney | No | 0 | View |
| Q632 | Ectopic kidney | No | 0 | View |
| Q633 | Hyperplastic and giant kidney | No | 0 | View |
| Q638 | Other specified congenital malformations of kidney | No | 0 | View |
| Q639 | Congenital malformation of kidney, unspecified | No | 0 | View |
| Q640 | Epispadias | No | 0 | View |
| Q641 | Exstrophy of urinary bladder | No | 0 | View |
| Q642 | Congenital posterior urethral valves | No | 0 | View |
| Q643 | Other atresia and stenosis of urethra and bladder neck | No | 0 | View |
| Q644 | Malformation of urachus | No | 0 | View |
| Q645 | Congenital absence of bladder and urethra | No | 0 | View |
| Q646 | Congenital diverticulum of bladder | No | 0 | View |
| Q647 | Other congenital malformations of bladder and urethra | No | 0 | View |
| Q648 | Other specified congenital malformations of urinary system | No | 0 | View |
| Q649 | Congenital malformation of urinary system, unspecified | No | 0 | View |
| Q650 | Congenital dislocation of hip, unilateral | No | 0 | View |
| Q651 | Congenital dislocation of hip, bilateral | No | 0 | View |
| Q652 | Congenital dislocation of hip, unspecified | No | 0 | View |
| Q653 | Congenital subluxation of hip, unilateral | No | 0 | View |
| Q654 | Congenital subluxation of hip, bilateral | No | 0 | View |
| Q655 | Congenital subluxation of hip, unspecified | No | 0 | View |
| Q656 | Unstable hip | No | 0 | View |
| Q658 | Other congenital deformities of hip | No | 0 | View |
| Q659 | Congenital deformity of hip, unspecified | No | 0 | View |
| Q660 | Talipes equinovarus | No | 0 | View |
| Q661 | Talipes calcaneovarus | No | 0 | View |
| Q662 | Metatarsus varus | No | 0 | View |
| Q663 | Other congenital varus deformities of feet | No | 0 | View |
| Q664 | Talipes calcaneovalgus | No | 0 | View |
| Q665 | Congenital pes planus | No | 0 | View |
| Q666 | Other congenital valgus deformities of feet | No | 0 | View |
| Q667 | Pes cavus | No | 0 | View |
| Q668 | Other congenital deformities of feet | No | 0 | View |
| Q669 | Congenital deformity of feet, unspecified | No | 0 | View |
| Q670 | Facial asymmetry | No | 0 | View |
| Q671 | Compression facies | No | 0 | View |
| Q672 | Dolichocephaly | No | 0 | View |
| Q673 | Plagiocephaly | No | 0 | View |
| Q674 | Other congenital deformities of skull, face and jaw | No | 0 | View |
| Q675 | Congenital deformity of spine | No | 0 | View |
| Q676 | Pectus excavatum | No | 0 | View |
| Q677 | Pectus carinatum | No | 0 | View |
| Q678 | Other congenital deformities of chest | No | 0 | View |
| Q680 | Congenital deformity of sternocleidomastoid muscle | No | 0 | View |
| Q681 | Congenital deformity of hand | No | 0 | View |
| Q682 | Congenital deformity of knee | No | 0 | View |
| Q683 | Congenital bowing of femur | No | 0 | View |
| Q684 | Congenital bowing of tibia and fibula | No | 0 | View |
| Q685 | Congenital bowing of long bones of leg, unspecified | No | 0 | View |
| Q688 | Other specified congenital musculoskeletal deformities | No | 0 | View |
| Q690 | Accessory finger(s) | No | 0 | View |
| Q691 | Accessory thumb(s) | No | 0 | View |
| Q692 | Accessory toe(s) | No | 0 | View |
| Q699 | Polydactyly, unspecified | No | 0 | View |
| Q700 | Fused fingers | No | 0 | View |
| Q701 | Webbed fingers | No | 0 | View |
| Q702 | Fused toes | No | 0 | View |
| Q703 | Webbed toes | No | 0 | View |
| Q704 | Polysyndactyly | No | 0 | View |
| Q709 | Syndactyly, unspecified | No | 0 | View |
| Q710 | Congenital complete absence of upper limb(s) | No | 0 | View |
| Q711 | Congenital absence of upper arm and forearm with hand present | No | 0 | View |
| Q712 | Congenital absence of both forearm and hand | No | 0 | View |
| Q713 | Congenital absence of hand and finger(s) | No | 0 | View |
| Q714 | Longitudinal reduction defect of radius | No | 0 | View |
| Q715 | Longitudinal reduction defect of ulna | No | 0 | View |
| Q716 | Lobster-claw hand | No | 0 | View |
| Q718 | Other reduction defects of upper limb(s) | No | 0 | View |
| Q719 | Reduction defect of upper limb, unspecified | No | 0 | View |
| Q720 | Congenital complete absence of lower limb(s) | No | 0 | View |
| Q721 | Congenital absence of thigh and lower leg with foot present | No | 0 | View |
| Q722 | Congenital absence of both lower leg and foot | No | 0 | View |
| Q723 | Congenital absence of foot and toe(s) | No | 0 | View |
| Q724 | Longitudinal reduction defect of femur | No | 0 | View |
| Q725 | Longitudinal reduction defect of tibia | No | 0 | View |
| Q726 | Longitudinal reduction defect of fibula | No | 0 | View |
| Q727 | Split foot | No | 0 | View |
| Q728 | Other reduction defects of lower limb(s) | No | 0 | View |
| Q729 | Reduction defect of lower limb, unspecified | No | 0 | View |
| Q730 | Congenital absence of unspecified limb(s) | No | 0 | View |
| Q731 | Phocomelia, unspecified limb(s) | No | 0 | View |
| Q738 | Other reduction defects of unspecified limb(s) | No | 0 | View |
| Q740 | Other congenital malformations of upper limb(s), including shoulder girdle | No | 0 | View |
| Q741 | Congenital malformation of knee | No | 0 | View |
| Q742 | Other congenital malformations of lower limb(s), including pelvic girdle | No | 0 | View |
| Q743 | Arthrogryposis multiplex congenita | No | 0 | View |
| Q748 | Other specified congenital malformations of limb(s) | No | 0 | View |
| Q749 | Unspecified congenital malformation of limb(s) | No | 0 | View |
| Q750 | Craniosynostosis | No | 0 | View |
| Q751 | Craniofacial dysostosis | Yes | 1 | View |
| Q752 | Hypertelorism | No | 0 | View |
| Q753 | Macrocephaly | Yes | 1 | View |
| Q754 | Mandibulofacial dysostosis | Yes | 1 | View |
| Q755 | Oculomandibular dysostosis | Yes | 1 | View |
| Q758 | Other specified congenital malformations of skull and face bones | Yes | 1 | View |
| Q759 | Congenital malformation of skull and face bones, unspecified | Yes | 1 | View |
| Q760 | Spina bifida occulta | No | 0 | View |
| Q761 | Klippel-Feil syndrome | Yes | 1 | View |
| Q762 | Congenital spondylolisthesis | No | 0 | View |
| Q763 | Congenital scoliosis due to congenital bony malformation | No | 0 | View |
| Q764 | Other congenital malformations of spine, not associated with scoliosis | No | 0 | View |
| Q765 | Cervical rib | No | 0 | View |
| Q766 | Other congenital malformations of ribs | No | 0 | View |
| Q767 | Congenital malformation of sternum | No | 0 | View |
| Q768 | Other congenital malformations of bony thorax | No | 0 | View |
| Q769 | Congenital malformation of bony thorax, unspecified | No | 0 | View |
| Q770 | Achondrogenesis | No | 0 | View |
| Q771 | Thanatophoric short stature | No | 0 | View |
| Q772 | Short rib syndrome | No | 0 | View |
| Q773 | Chondrodysplasia punctata | No | 0 | View |
| Q774 | Achondroplasia | No | 0 | View |
| Q775 | Dystrophic dysplasia | No | 0 | View |
| Q776 | Chondroectodermal dysplasia | No | 0 | View |
| Q777 | Spondyloepiphyseal dysplasia | No | 0 | View |
| Q778 | Other osteochondrodysplasia with defects of growth of tubular bones and spine | No | 0 | View |
| Q779 | Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified | No | 0 | View |
| Q780 | Osteogenesis imperfecta | No | 0 | View |
| Q781 | Polyostotic fibrous dysplasia | No | 0 | View |
| Q782 | Osteopetrosis | No | 0 | View |
| Q783 | Progressive diaphyseal dysplasia | No | 0 | View |
| Q784 | Enchondromatosis | No | 0 | View |
| Q785 | Metaphyseal dysplasia | No | 0 | View |
| Q786 | Multiple congenital exostoses | No | 0 | View |
| Q788 | Other specified osteochondrodysplasias | No | 0 | View |
| Q789 | Osteochondrodysplasia, unspecified | No | 0 | View |
| Q790 | Congenital diaphragmatic hernia | No | 0 | View |
| Q791 | Other congenital malformations of diaphragm | No | 0 | View |
| Q792 | Exomphalos | No | 0 | View |
| Q793 | Gastroschisis | No | 0 | View |
| Q794 | Prune belly syndrome | No | 0 | View |
| Q795 | Other congenital malformations of abdominal wall | No | 0 | View |
| Q796 | Ehlers-Danlos syndrome | Yes | 1 | View |
| Q798 | Other congenital malformations of musculoskeletal system | No | 0 | View |
| Q799 | Congenital malformation of musculoskeletal system, unspecified | No | 0 | View |
| Q800 | Ichthyosis vulgaris | No | 0 | View |
| Q801 | X-linked ichthyosis | No | 0 | View |
| Q802 | Lamellar ichthyosis | No | 0 | View |
| Q803 | Congenital bullous ichthyosiform erythroderma | No | 0 | View |
| Q804 | Harlequin fetus | No | 0 | View |
| Q808 | Other congenital ichthyosis | No | 0 | View |
| Q809 | Congenital ichthyosis, unspecified | No | 0 | View |
| Q810 | Epidermolysis bullosa simplex | Yes | 2 | View |
| Q811 | Epidermolysis bullosa letalis | Yes | 2 | View |
| Q812 | Epidermolysis bullosa dystrophica | Yes | 2 | View |
| Q818 | Other epidermolysis bullosa | Yes | 2 | View |
| Q819 | Epidermolysis bullosa, unspecified | Yes | 2 | View |
| Q820 | Hereditary lymphoedema | No | 0 | View |
| Q821 | Xeroderma pigmentosum | No | 0 | View |
| Q822 | Mastocytosis | No | 0 | View |
| Q823 | Incontinentia pigmenti | No | 0 | View |
| Q824 | Ectodermal dysplasia (anhidrotic) | No | 0 | View |
| Q825 | Congenital non-neoplastic naevus | No | 0 | View |
| Q828 | Other specified congenital malformations of skin | No | 0 | View |
| Q829 | Congenital malformation of skin, unspecified | No | 0 | View |
| Q830 | Congenital absence of breast with absent nipple | No | 0 | View |
| Q831 | Accessory breast | No | 0 | View |
| Q832 | Absent nipple | No | 0 | View |
| Q833 | Accessory nipple | No | 0 | View |
| Q838 | Other congenital malformations of breast | No | 0 | View |
| Q839 | Congenital malformation of breast, unspecified | No | 0 | View |
| Q840 | Congenital alopecia | No | 0 | View |
| Q841 | Congenital morphological disturbances of hair, not elsewhere classified | No | 0 | View |
| Q842 | Other congenital malformations of hair | No | 0 | View |
| Q843 | Anonychia | No | 0 | View |
| Q844 | Congenital leukonychia | No | 0 | View |
| Q845 | Enlarged and hypertrophic nails | No | 0 | View |
| Q846 | Other congenital malformations of nails | No | 0 | View |
| Q848 | Other specified congenital malformations of integument | No | 0 | View |
| Q849 | Congenital malformation of integument, unspecified | No | 0 | View |
| Q850 | Neurofibromatosis (nonmalignant) | Yes | 1 | View |
| Q851 | Tuberous sclerosis | No | 0 | View |
| Q858 | Other phakomatoses, not elsewhere classified | Yes | 1 | View |
| Q859 | Phakomatosis, unspecified | Yes | 1 | View |
| Q860 | Fetal alcohol syndrome (dysmorphic) | No | 0 | View |
| Q861 | Fetal hydantoin syndrome | No | 0 | View |
| Q862 | Dysmorphism due to warfarin | No | 0 | View |
| Q868 | Other congenital malformation syndromes due to known exogenous causes | No | 0 | View |
| Q870 | Congenital malformation syndromes predominantly affecting facial appearance | Yes | 1 | View |
| Q871 | Congenital malformation syndromes predominantly associated with short stature | No | 0 | View |
| Q872 | Congenital malformation syndromes predominantly involving limbs | No | 0 | View |
| Q873 | Congenital malformation syndromes involving early overgrowth | No | 0 | View |
| Q874 | Marfan syndrome | Yes | 1 | View |
| Q875 | Other congenital malformation syndromes with other skeletal changes | No | 0 | View |
| Q878 | Other specified congenital malformation syndromes, not elsewhere classified | No | 0 | View |
| Q890 | Congenital malformations of spleen | No | 0 | View |
| Q891 | Congenital malformations of adrenal gland | No | 0 | View |
| Q892 | Congenital malformations of other endocrine glands | No | 0 | View |
| Q893 | Situs inversus | Yes | 1 | View |
| Q894 | Conjoined twins | Yes | 2 | View |
| Q897 | Multiple congenital malformations, not elsewhere classified | Yes | 1 | View |
| Q898 | Other specified congenital malformations | No | 0 | View |
| Q899 | Congenital malformation, unspecified | No | 0 | View |
| Q900 | Trisomy 21, meiotic nondisjunction | No | 0 | View |
| Q901 | Trisomy 21, mosaicism (mitotic nondisjunction) | No | 0 | View |
| Q902 | Trisomy 21, translocation | No | 0 | View |
| Q909 | Down syndrome, unspecified | No | 0 | View |
| Q910 | Trisomy 18, meiotic nondisjunction | Yes | 1 | View |
| Q911 | Trisomy 18, mosaicism (mitotic nondisjunction) | Yes | 1 | View |
| Q912 | Trisomy 18, translocation | Yes | 1 | View |
| Q913 | Edwards' syndrome, unspecified | Yes | 1 | View |
| Q914 | Trisomy 13, meiotic nondisjunction | Yes | 1 | View |
| Q915 | Trisomy 13, mosaicism (mitotic nondisjunction) | Yes | 1 | View |
| Q916 | Trisomy 13, translocation | Yes | 1 | View |
| Q917 | Patau syndrome, unspecified | Yes | 1 | View |
| Q920 | Whole chromosome trisomy, meiotic nondisjunction | Yes | 1 | View |
| Q921 | Whole chromosome trisomy, mosaicism (mitotic nondisjunction) | Yes | 1 | View |
| Q922 | Major partial trisomy | Yes | 1 | View |
| Q923 | Minor partial trisomy | Yes | 1 | View |
| Q924 | Duplications seen only at prometaphase | No | 0 | View |
| Q925 | Duplications with other complex rearrangements | No | 0 | View |
| Q926 | Extra marker chromosomes | No | 0 | View |
| Q927 | Triploidy and polyploidy | No | 0 | View |
| Q928 | Other specified trisomies and partial trisomies of autosomes | Yes | 1 | View |
| Q929 | Trisomy and partial trisomy of autosomes, unspecified | Yes | 1 | View |
| Q930 | Whole chromosome monosomy, meiotic nondisjunction | Yes | 1 | View |
| Q931 | Whole chromosome monosomy, mosaicism (mitotic nondisjunction) | Yes | 1 | View |
| Q932 | Chromosome replaced with ring or dicentric | Yes | 1 | View |
| Q933 | Deletion of short arm of chromosome 4 | Yes | 1 | View |
| Q934 | Deletion of short arm of chromosome 5 | Yes | 1 | View |
| Q935 | Other deletions of part of a chromosome | No | 0 | View |
| Q936 | Deletions seen only at prometaphase | No | 0 | View |
| Q937 | Deletions with other complex rearrangements | No | 0 | View |
| Q938 | Other deletions from the autosomes | No | 0 | View |
| Q939 | Deletion from autosomes, unspecified | No | 0 | View |
| Q950 | Balanced translocation and insertion in normal individual | No | 0 | View |
| Q951 | Chromosome inversion in normal individual | No | 0 | View |
| Q952 | Balanced autosomal rearrangement in abnormal individual | No | 0 | View |
| Q953 | Balanced sex/autosomal rearrangement in abnormal individual | No | 0 | View |
| Q954 | Individuals with marker heterochromatin | No | 0 | View |
| Q955 | Individuals with autosomal fragile site | No | 0 | View |
| Q958 | Other balanced rearrangements and structural markers | No | 0 | View |
| Q959 | Balanced rearrangement and structural marker, unspecified | No | 0 | View |
| Q960 | Karyotype 45,X | No | 0 | View |
| Q961 | Karyotype 46,X iso (Xq) | No | 0 | View |
| Q962 | Karyotype 46,X with abnormal sex chromosome, except iso (Xq) | No | 0 | View |
| Q963 | Mosaicism, 45,X/46,XX or XY | No | 0 | View |
| Q964 | Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome | No | 0 | View |
| Q968 | Other variants of Turner syndrome | No | 0 | View |
| Q969 | Turner syndrome, unspecified | No | 0 | View |
| Q970 | Karyotype 47,XXX | No | 0 | View |
| Q971 | Female with more than three X chromosomes | No | 0 | View |
| Q972 | Mosaicism, lines with various numbers of X chromosomes | No | 0 | View |
| Q973 | Female with 46,XY karyotype | No | 0 | View |
| Q978 | Other specified sex chromosome abnormalities, female phenotype | No | 0 | View |
| Q979 | Sex chromosome abnormality, female phenotype, unspecified | No | 0 | View |
| Q980 | Klinefelter syndrome karyotype 47,XXY | No | 0 | View |
| Q981 | Klinefelter syndrome, male with more than two X chromosomes | No | 0 | View |
| Q982 | Klinefelter syndrome, male with 46,XX karyotype | No | 0 | View |
| Q983 | Other male with 46,XX karyotype | No | 0 | View |
| Q984 | Klinefelter syndrome, unspecified | No | 0 | View |
| Q985 | Karyotype 47,XYY | No | 0 | View |
| Q986 | Male with structurally abnormal sex chromosome | No | 0 | View |
| Q987 | Male with sex chromosome mosaicism | No | 0 | View |
| Q988 | Other specified sex chromosome abnormalities, male phenotype | No | 0 | View |
| Q989 | Sex chromosome abnormality, male phenotype, unspecified | No | 0 | View |
| Q990 | Chimera 46,XX/46,XY | No | 0 | View |
| Q991 | 46,XX true hermaphrodite | No | 0 | View |
| Q992 | Fragile X chromosome | No | 0 | View |
| Q998 | Other specified chromosome abnormalities | No | 0 | View |
| Q999 | Chromosomal abnormality, unspecified | No | 0 | View |