No metadata has been provided for this codelist.
| code | term |
|---|---|
| Q00 | Anencephaly and similar malformations |
| Q00-Q07 | Congenital malformations of the nervous system |
| Q000 | Anencephaly |
| Q001 | Craniorachischisis |
| Q002 | Iniencephaly |
| Q01 | Encephalocele |
| Q010 | Frontal encephalocele |
| Q011 | Nasofrontal encephalocele |
| Q012 | Occipital encephalocele |
| Q018 | Encephalocele of other sites |
| Q019 | Encephalocele, unspecified |
| Q02 | Microcephaly |
| Q03 | Congenital hydrocephalus |
| Q030 | Malformations of aqueduct of Sylvius |
| Q031 | Atresia of foramina of Magendie and Luschka |
| Q038 | Other congenital hydrocephalus |
| Q039 | Congenital hydrocephalus, unspecified |
| Q04 | Other congenital malformations of brain |
| Q040 | Congenital malformations of corpus callosum |
| Q041 | Arhinencephaly |
| Q042 | Holoprosencephaly |
| Q043 | Other reduction deformities of brain |
| Q044 | Septo-optic dysplasia |
| Q045 | Megalencephaly |
| Q046 | Congenital cerebral cysts |
| Q048 | Other specified congenital malformations of brain |
| Q049 | Congenital malformation of brain, unspecified |
| Q05 | Spina bifida |
| Q050 | Cervical spina bifida with hydrocephalus |
| Q051 | Thoracic spina bifida with hydrocephalus |
| Q052 | Lumbar spina bifida with hydrocephalus |
| Q053 | Sacral spina bifida with hydrocephalus |
| Q054 | Unspecified spina bifida with hydrocephalus |
| Q055 | Cervical spina bifida without hydrocephalus |
| Q056 | Thoracic spina bifida without hydrocephalus |
| Q057 | Lumbar spina bifida without hydrocephalus |
| Q058 | Sacral spina bifida without hydrocephalus |
| Q059 | Spina bifida, unspecified |
| Q06 | Other congenital malformations of spinal cord |
| Q060 | Amyelia |
| Q061 | Hypoplasia and dysplasia of spinal cord |
| Q062 | Diastematomyelia |
| Q063 | Other congenital cauda equina malformations |
| Q064 | Hydromyelia |
| Q068 | Other specified congenital malformations of spinal cord |
| Q069 | Congenital malformation of spinal cord, unspecified |
| Q07 | Other congenital malformations of nervous system |
| Q070 | Arnold-Chiari syndrome |
| Q078 | Other specified congenital malformations of nervous system |
| Q079 | Congenital malformation of nervous system, unspecified |
| Q10 | Congenital malformations of eyelid, lacrimal apparatus and orbit |
| Q10-Q18 | Congenital malformations of eye, ear, face and neck |
| Q100 | Congenital ptosis |
| Q101 | Congenital ectropion |
| Q102 | Congenital entropion |
| Q103 | Other congenital malformations of eyelid |
| Q104 | Absence and agenesis of lacrimal apparatus |
| Q105 | Congenital stenosis and stricture of lacrimal duct |
| Q106 | Other congenital malformations of lacrimal apparatus |
| Q107 | Congenital malformation of orbit |
| Q11 | Anophthalmos, microphthalmos and macrophthalmos |
| Q110 | Cystic eyeball |
| Q111 | Other anophthalmos |
| Q112 | Microphthalmos |
| Q113 | Macrophthalmos |
| Q12 | Congenital lens malformations |
| Q120 | Congenital cataract |
| Q121 | Congenital displaced lens |
| Q122 | Coloboma of lens |
| Q123 | Congenital aphakia |
| Q124 | Spherophakia |
| Q128 | Other congenital lens malformations |
| Q129 | Congenital lens malformation, unspecified |
| Q13 | Congenital malformations of anterior segment of eye |
| Q130 | Coloboma of iris |
| Q131 | Absence of iris |
| Q132 | Other congenital malformations of iris |
| Q133 | Congenital corneal opacity |
| Q134 | Other congenital corneal malformations |
| Q135 | Blue sclera |
| Q138 | Other congenital malformations of anterior segment of eye |
| Q139 | Congenital malformation of anterior segment of eye, unspecified |
| Q14 | Congenital malformations of posterior segment of eye |
| Q140 | Congenital malformation of vitreous humour |
| Q141 | Congenital malformation of retina |
| Q142 | Congenital malformation of optic disc |
| Q143 | Congenital malformation of choroid |
| Q148 | Other congenital malformations of posterior segment of eye |
| Q149 | Congenital malformation of posterior segment of eye, unspecified |
| Q15 | Other congenital malformations of eye |
| Q150 | Congenital glaucoma |
| Q158 | Other specified congenital malformations of eye |
| Q159 | Congenital malformation of eye, unspecified |
| Q16 | Congenital malformations of ear causing impairment of hearing |
| Q160 | Congenital absence of (ear) auricle |
| Q161 | Congenital absence, atresia and stricture of auditory canal (external) |
| Q162 | Absence of eustachian tube |
| Q163 | Congenital malformation of ear ossicles |
| Q164 | Other congenital malformations of middle ear |
| Q165 | Congenital malformation of inner ear |
| Q169 | Congenital malformation of ear causing impairment of hearing, unspecified |
| Q17 | Other congenital malformations of ear |
| Q170 | Accessory auricle |
| Q171 | Macrotia |
| Q172 | Microtia |
| Q173 | Other misshapen ear |
| Q174 | Misplaced ear |
| Q175 | Prominent ear |
| Q178 | Other specified congenital malformations of ear |
| Q179 | Congenital malformation of ear, unspecified |
| Q18 | Other congenital malformations of face and neck |
| Q180 | Sinus, fistula and cyst of branchial cleft |
| Q181 | Preauricular sinus and cyst |
| Q182 | Other branchial cleft malformations |
| Q183 | Webbing of neck |
| Q184 | Macrostomia |
| Q185 | Microstomia |
| Q186 | Macrocheilia |
| Q187 | Microcheilia |
| Q188 | Other specified congenital malformations of face and neck |
| Q189 | Congenital malformation of face and neck, unspecified |
| Q20 | Congenital malformations of cardiac chambers and connections |
| Q20-Q28 | Congenital malformations of the circulatory system |
| Q200 | Common arterial trunk |
| Q201 | Double outlet right ventricle |
| Q202 | Double outlet left ventricle |
| Q203 | Discordant ventriculoarterial connection |
| Q204 | Double inlet ventricle |
| Q205 | Discordant atrioventricular connection |
| Q206 | Isomerism of atrial appendages |
| Q208 | Other congenital malformations of cardiac chambers and connections |
| Q209 | Congenital malformation of cardiac chambers and connections, unspecified |
| Q21 | Congenital malformations of cardiac septa |
| Q210 | Ventricular septal defect |
| Q211 | Atrial septal defect |
| Q212 | Atrioventricular septal defect |
| Q213 | Tetralogy of Fallot |
| Q214 | Aortopulmonary septal defect |
| Q218 | Other congenital malformations of cardiac septa |
| Q219 | Congenital malformation of cardiac septum, unspecified |
| Q22 | Congenital malformations of pulmonary and tricuspid valves |
| Q220 | Pulmonary valve atresia |
| Q221 | Congenital pulmonary valve stenosis |
| Q222 | Congenital pulmonary valve insufficiency |
| Q223 | Other congenital malformations of pulmonary valve |
| Q224 | Congenital tricuspid stenosis |
| Q225 | Ebstein anomaly |
| Q226 | Hypoplastic right heart syndrome |
| Q228 | Other congenital malformations of tricuspid valve |
| Q229 | Congenital malformation of tricuspid valve, unspecified |
| Q23 | Congenital malformations of aortic and mitral valves |
| Q230 | Congenital stenosis of aortic valve |
| Q231 | Congenital insufficiency of aortic valve |
| Q232 | Congenital mitral stenosis |
| Q233 | Congenital mitral insufficiency |
| Q234 | Hypoplastic left heart syndrome |
| Q238 | Other congenital malformations of aortic and mitral valves |
| Q239 | Congenital malformation of aortic and mitral valves, unspecified |
| Q24 | Other congenital malformations of heart |
| Q240 | Dextrocardia |
| Q241 | Laevocardia |
| Q242 | Cor triatriatum |
| Q243 | Pulmonary infundibular stenosis |
| Q244 | Congenital subaortic stenosis |
| Q245 | Malformation of coronary vessels |
| Q246 | Congenital heart block |
| Q248 | Other specified congenital malformations of heart |
| Q249 | Congenital malformation of heart, unspecified |
| Q25 | Congenital malformations of great arteries |
| Q250 | Patent ductus arteriosus |
| Q251 | Coarctation of aorta |
| Q252 | Atresia of aorta |
| Q253 | Stenosis of aorta |
| Q254 | Other congenital malformations of aorta |
| Q255 | Atresia of pulmonary artery |
| Q256 | Stenosis of pulmonary artery |
| Q257 | Other congenital malformations of pulmonary artery |
| Q258 | Other congenital malformations of great arteries |
| Q259 | Congenital malformation of great arteries, unspecified |
| Q26 | Congenital malformations of great veins |
| Q260 | Congenital stenosis of vena cava |
| Q261 | Persistent left superior vena cava |
| Q262 | Total anomalous pulmonary venous connection |
| Q263 | Partial anomalous pulmonary venous connection |
| Q264 | Anomalous pulmonary venous connection, unspecified |
| Q265 | Anomalous portal venous connection |
| Q266 | Portal vein-hepatic artery fistula |
| Q268 | Other congenital malformations of great veins |
| Q269 | Congenital malformation of great vein, unspecified |
| Q27 | Other congenital malformations of peripheral vascular system |
| Q270 | Congenital absence and hypoplasia of umbilical artery |
| Q271 | Congenital renal artery stenosis |
| Q272 | Other congenital malformations of renal artery |
| Q273 | Peripheral arteriovenous malformation |
| Q274 | Congenital phlebectasia |
| Q278 | Other specified congenital malformations of peripheral vascular system |
| Q279 | Congenital malformation of peripheral vascular system, unspecified |
| Q28 | Other congenital malformations of circulatory system |
| Q280 | Arteriovenous malformation of precerebral vessels |
| Q281 | Other malformations of precerebral vessels |
| Q282 | Arteriovenous malformation of cerebral vessels |
| Q283 | Other malformations of cerebral vessels |
| Q288 | Other specified congenital malformations of circulatory system |
| Q289 | Congenital malformation of circulatory system, unspecified |
| Q30 | Congenital malformations of nose |
| Q30-Q34 | Congenital malformations of the respiratory system |
| Q300 | Choanal atresia |
| Q301 | Agenesis and underdevelopment of nose |
| Q302 | Fissured, notched and cleft nose |
| Q303 | Congenital perforated nasal septum |
| Q308 | Other congenital malformations of nose |
| Q309 | Congenital malformation of nose, unspecified |
| Q31 | Congenital malformations of larynx |
| Q310 | Web of larynx |
| Q311 | Congenital subglottic stenosis |
| Q312 | Laryngeal hypoplasia |
| Q313 | Laryngocele |
| Q315 | Congenital laryngomalacia |
| Q318 | Other congenital malformations of larynx |
| Q319 | Congenital malformation of larynx, unspecified |
| Q32 | Congenital malformations of trachea and bronchus |
| Q320 | Congenital tracheomalacia |
| Q321 | Other congenital malformations of trachea |
| Q322 | Congenital bronchomalacia |
| Q323 | Congenital stenosis of bronchus |
| Q324 | Other congenital malformations of bronchus |
| Q33 | Congenital malformations of lung |
| Q330 | Congenital cystic lung |
| Q331 | Accessory lobe of lung |
| Q332 | Sequestration of lung |
| Q333 | Agenesis of lung |
| Q334 | Congenital bronchiectasis |
| Q335 | Ectopic tissue in lung |
| Q336 | Hypoplasia and dysplasia of lung |
| Q338 | Other congenital malformations of lung |
| Q339 | Congenital malformation of lung, unspecified |
| Q34 | Other congenital malformations of respiratory system |
| Q340 | Anomaly of pleura |
| Q341 | Congenital cyst of mediastinum |
| Q348 | Other specified congenital malformations of respiratory system |
| Q349 | Congenital malformation of respiratory system, unspecified |
| Q35 | Cleft palate |
| Q35-Q37 | Cleft lip and cleft palate |
| Q351 | Cleft hard palate |
| Q353 | Cleft soft palate |
| Q355 | Cleft hard palate with cleft soft palate |
| Q357 | Cleft uvula |
| Q359 | Cleft palate, unspecified |
| Q36 | Cleft lip |
| Q360 | Cleft lip, bilateral |
| Q361 | Cleft lip, median |
| Q369 | Cleft lip, unilateral |
| Q37 | Cleft palate with cleft lip |
| Q370 | Cleft hard palate with bilateral cleft lip |
| Q371 | Cleft hard palate with unilateral cleft lip |
| Q372 | Cleft soft palate with bilateral cleft lip |
| Q373 | Cleft soft palate with unilateral cleft lip |
| Q374 | Cleft hard and soft palate with bilateral cleft lip |
| Q375 | Cleft hard and soft palate with unilateral cleft lip |
| Q378 | Unspecified cleft palate with bilateral cleft lip |
| Q379 | Unspecified cleft palate with unilateral cleft lip |
| Q38 | Other congenital malformations of tongue, mouth and pharynx |
| Q38-Q45 | Other congenital malformations of the digestive system |
| Q380 | Congenital malformations of lips, not elsewhere classified |
| Q381 | Ankyloglossia |
| Q382 | Macroglossia |
| Q383 | Other congenital malformations of tongue |
| Q384 | Congenital malformations of salivary glands and ducts |
| Q385 | Congenital malformations of palate, not elsewhere classified |
| Q386 | Other congenital malformations of mouth |
| Q387 | Pharyngeal pouch |
| Q388 | Other congenital malformations of pharynx |
| Q39 | Congenital malformations of oesophagus |
| Q390 | Atresia of oesophagus without fistula |
| Q391 | Atresia of oesophagus with tracheo-oesophageal fistula |
| Q392 | Congenital tracheo-oesophageal fistula without atresia |
| Q393 | Congenital stenosis and stricture of oesophagus |
| Q394 | Congenital oesophageal web |
| Q395 | Congenital dilatation of oesophagus |
| Q396 | Diverticulum of oesophagus |
| Q398 | Other congenital malformations of oesophagus |
| Q399 | Congenital malformation of oesophagus, unspecified |
| Q40 | Other congenital malformations of upper alimentary tract |
| Q400 | Congenital hypertrophic pyloric stenosis |
| Q401 | Congenital hiatus hernia |
| Q402 | Other specified congenital malformations of stomach |
| Q403 | Congenital malformation of stomach, unspecified |
| Q408 | Other specified congenital malformations of upper alimentary tract |
| Q409 | Congenital malformation of upper alimentary tract, unspecified |
| Q41 | Congenital absence, atresia and stenosis of small intestine |
| Q410 | Congenital absence, atresia and stenosis of duodenum |
| Q411 | Congenital absence, atresia and stenosis of jejunum |
| Q412 | Congenital absence, atresia and stenosis of ileum |
| Q418 | Congenital absence, atresia and stenosis of other specified parts of small intestine |
| Q419 | Congenital absence, atresia and stenosis of small intestine, part unspecified |
| Q42 | Congenital absence, atresia and stenosis of large intestine |
| Q420 | Congenital absence, atresia and stenosis of rectum with fistula |
| Q421 | Congenital absence, atresia and stenosis of rectum without fistula |
| Q422 | Congenital absence, atresia and stenosis of anus with fistula |
| Q423 | Congenital absence, atresia and stenosis of anus without fistula |
| Q428 | Congenital absence, atresia and stenosis of other parts of large intestine |
| Q429 | Congenital absence, atresia and stenosis of large intestine, part unspecified |
| Q43 | Other congenital malformations of intestine |
| Q430 | Meckel diverticulum |
| Q431 | Hirschsprung disease |
| Q432 | Other congenital functional disorders of colon |
| Q433 | Congenital malformations of intestinal fixation |
| Q434 | Duplication of intestine |
| Q435 | Ectopic anus |
| Q436 | Congenital fistula of rectum and anus |
| Q437 | Persistent cloaca |
| Q438 | Other specified congenital malformations of intestine |
| Q439 | Congenital malformation of intestine, unspecified |
| Q44 | Congenital malformations of gallbladder, bile ducts and liver |
| Q440 | Agenesis, aplasia and hypoplasia of gallbladder |
| Q441 | Other congenital malformations of gallbladder |
| Q442 | Atresia of bile ducts |
| Q443 | Congenital stenosis and stricture of bile ducts |
| Q444 | Choledochal cyst |
| Q445 | Other congenital malformations of bile ducts |
| Q446 | Cystic disease of liver |
| Q447 | Other congenital malformations of liver |
| Q45 | Other congenital malformations of digestive system |
| Q450 | Agenesis, aplasia and hypoplasia of pancreas |
| Q451 | Annular pancreas |
| Q452 | Congenital pancreatic cyst |
| Q453 | Other congenital malformations of pancreas and pancreatic duct |
| Q458 | Other specified congenital malformations of digestive system |
| Q459 | Congenital malformation of digestive system, unspecified |
| Q50 | Congenital malformations of ovaries, fallopian tubes and broad ligaments |
| Q50-Q56 | Congenital malformations of genital organs |
| Q500 | Congenital absence of ovary |
| Q501 | Developmental ovarian cyst |
| Q502 | Congenital torsion of ovary |
| Q503 | Other congenital malformations of ovary |
| Q504 | Embryonic cyst of fallopian tube |
| Q505 | Embryonic cyst of broad ligament |
| Q506 | Other congenital malformations of fallopian tube and broad ligament |
| Q51 | Congenital malformations of uterus and cervix |
| Q510 | Agenesis and aplasia of uterus |
| Q511 | Doubling of uterus with doubling of cervix and vagina |
| Q512 | Other doubling of uterus |
| Q513 | Bicornate uterus |
| Q514 | Unicornate uterus |
| Q515 | Agenesis and aplasia of cervix |
| Q516 | Embryonic cyst of cervix |
| Q517 | Congenital fistulae between uterus and digestive and urinary tracts |
| Q518 | Other congenital malformations of uterus and cervix |
| Q519 | Congenital malformation of uterus and cervix, unspecified |
| Q52 | Other congenital malformations of female genitalia |
| Q520 | Congenital absence of vagina |
| Q521 | Doubling of vagina |
| Q522 | Congenital rectovaginal fistula |
| Q523 | Imperforate hymen |
| Q524 | Other congenital malformations of vagina |
| Q525 | Fusion of labia |
| Q526 | Congenital malformation of clitoris |
| Q527 | Other congenital malformations of vulva |
| Q528 | Other specified congenital malformations of female genitalia |
| Q529 | Congenital malformation of female genitalia, unspecified |
| Q53 | Undescended testicle |
| Q530 | Ectopic testis |
| Q531 | Undescended testicle, unilateral |
| Q532 | Undescended testicle, bilateral |
| Q539 | Undescended testicle, unspecified |
| Q54 | Hypospadias |
| Q540 | Hypospadias, balanic |
| Q541 | Hypospadias, penile |
| Q542 | Hypospadias, penoscrotal |
| Q543 | Hypospadias, perineal |
| Q544 | Congenital chordee |
| Q548 | Other hypospadias |
| Q549 | Hypospadias, unspecified |
| Q55 | Other congenital malformations of male genital organs |
| Q550 | Absence and aplasia of testis |
| Q551 | Hypoplasia of testis and scrotum |
| Q552 | Other congenital malformations of testis and scrotum |
| Q553 | Atresia of vas deferens |
| Q554 | Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate |
| Q555 | Congenital absence and aplasia of penis |
| Q556 | Other congenital malformations of penis |
| Q558 | Other specified congenital malformations of male genital organs |
| Q559 | Congenital malformation of male genital organ, unspecified |
| Q56 | Indeterminate sex and pseudohermaphroditism |
| Q560 | Hermaphroditism, not elsewhere classified |
| Q561 | Male pseudohermaphroditism, not elsewhere classified |
| Q562 | Female pseudohermaphroditism, not elsewhere classified |
| Q563 | Pseudohermaphroditism, unspecified |
| Q564 | Indeterminate sex, unspecified |
| Q60 | Renal agenesis and other reduction defects of kidney |
| Q60-Q64 | Congenital malformations of the urinary system |
| Q600 | Renal agenesis, unilateral |
| Q601 | Renal agenesis, bilateral |
| Q602 | Renal agenesis, unspecified |
| Q603 | Renal hypoplasia, unilateral |
| Q604 | Renal hypoplasia, bilateral |
| Q605 | Renal hypoplasia, unspecified |
| Q606 | Potter syndrome |
| Q61 | Cystic kidney disease |
| Q610 | Congenital single renal cyst |
| Q611 | Polycystic kidney, autosomal recessive |
| Q612 | Polycystic kidney, autosomal dominant |
| Q613 | Polycystic kidney, unspecified |
| Q614 | Renal dysplasia |
| Q615 | Medullary cystic kidney |
| Q618 | Other cystic kidney diseases |
| Q619 | Cystic kidney disease, unspecified |
| Q62 | Congenital obstructive defects of renal pelvis and congenital malformations of ureter |
| Q620 | Congenital hydronephrosis |
| Q621 | Atresia and stenosis of ureter |
| Q622 | Congenital megaloureter |
| Q623 | Other obstructive defects of renal pelvis and ureter |
| Q624 | Agenesis of ureter |
| Q625 | Duplication of ureter |
| Q626 | Malposition of ureter |
| Q627 | Congenital vesico-uretero-renal reflux |
| Q628 | Other congenital malformations of ureter |
| Q63 | Other congenital malformations of kidney |
| Q630 | Accessory kidney |
| Q631 | Lobulated, fused and horseshoe kidney |
| Q632 | Ectopic kidney |
| Q633 | Hyperplastic and giant kidney |
| Q638 | Other specified congenital malformations of kidney |
| Q639 | Congenital malformation of kidney, unspecified |
| Q64 | Other congenital malformations of urinary system |
| Q640 | Epispadias |
| Q641 | Exstrophy of urinary bladder |
| Q642 | Congenital posterior urethral valves |
| Q643 | Other atresia and stenosis of urethra and bladder neck |
| Q644 | Malformation of urachus |
| Q645 | Congenital absence of bladder and urethra |
| Q646 | Congenital diverticulum of bladder |
| Q647 | Other congenital malformations of bladder and urethra |
| Q648 | Other specified congenital malformations of urinary system |
| Q649 | Congenital malformation of urinary system, unspecified |
| Q65 | Congenital deformities of hip |
| Q65-Q79 | Congenital malformations and deformations of the musculoskeletal system |
| Q650 | Congenital dislocation of hip, unilateral |
| Q651 | Congenital dislocation of hip, bilateral |
| Q652 | Congenital dislocation of hip, unspecified |
| Q653 | Congenital subluxation of hip, unilateral |
| Q654 | Congenital subluxation of hip, bilateral |
| Q655 | Congenital subluxation of hip, unspecified |
| Q656 | Unstable hip |
| Q658 | Other congenital deformities of hip |
| Q659 | Congenital deformity of hip, unspecified |
| Q66 | Congenital deformities of feet |
| Q660 | Talipes equinovarus |
| Q661 | Talipes calcaneovarus |
| Q662 | Metatarsus varus |
| Q663 | Other congenital varus deformities of feet |
| Q664 | Talipes calcaneovalgus |
| Q665 | Congenital pes planus |
| Q666 | Other congenital valgus deformities of feet |
| Q667 | Pes cavus |
| Q668 | Other congenital deformities of feet |
| Q669 | Congenital deformity of feet, unspecified |
| Q67 | Congenital musculoskeletal deformities of head, face, spine and chest |
| Q670 | Facial asymmetry |
| Q671 | Compression facies |
| Q672 | Dolichocephaly |
| Q673 | Plagiocephaly |
| Q674 | Other congenital deformities of skull, face and jaw |
| Q675 | Congenital deformity of spine |
| Q676 | Pectus excavatum |
| Q677 | Pectus carinatum |
| Q678 | Other congenital deformities of chest |
| Q68 | Other congenital musculoskeletal deformities |
| Q680 | Congenital deformity of sternocleidomastoid muscle |
| Q681 | Congenital deformity of hand |
| Q682 | Congenital deformity of knee |
| Q683 | Congenital bowing of femur |
| Q684 | Congenital bowing of tibia and fibula |
| Q685 | Congenital bowing of long bones of leg, unspecified |
| Q688 | Other specified congenital musculoskeletal deformities |
| Q69 | Polydactyly |
| Q690 | Accessory finger(s) |
| Q691 | Accessory thumb(s) |
| Q692 | Accessory toe(s) |
| Q699 | Polydactyly, unspecified |
| Q70 | Syndactyly |
| Q700 | Fused fingers |
| Q701 | Webbed fingers |
| Q702 | Fused toes |
| Q703 | Webbed toes |
| Q704 | Polysyndactyly |
| Q709 | Syndactyly, unspecified |
| Q71 | Reduction defects of upper limb |
| Q710 | Congenital complete absence of upper limb(s) |
| Q711 | Congenital absence of upper arm and forearm with hand present |
| Q712 | Congenital absence of both forearm and hand |
| Q713 | Congenital absence of hand and finger(s) |
| Q714 | Longitudinal reduction defect of radius |
| Q715 | Longitudinal reduction defect of ulna |
| Q716 | Lobster-claw hand |
| Q718 | Other reduction defects of upper limb(s) |
| Q719 | Reduction defect of upper limb, unspecified |
| Q72 | Reduction defects of lower limb |
| Q720 | Congenital complete absence of lower limb(s) |
| Q721 | Congenital absence of thigh and lower leg with foot present |
| Q722 | Congenital absence of both lower leg and foot |
| Q723 | Congenital absence of foot and toe(s) |
| Q724 | Longitudinal reduction defect of femur |
| Q725 | Longitudinal reduction defect of tibia |
| Q726 | Longitudinal reduction defect of fibula |
| Q727 | Split foot |
| Q728 | Other reduction defects of lower limb(s) |
| Q729 | Reduction defect of lower limb, unspecified |
| Q73 | Reduction defects of unspecified limb |
| Q730 | Congenital absence of unspecified limb(s) |
| Q731 | Phocomelia, unspecified limb(s) |
| Q738 | Other reduction defects of unspecified limb(s) |
| Q74 | Other congenital malformations of limb(s) |
| Q740 | Other congenital malformations of upper limb(s), including shoulder girdle |
| Q741 | Congenital malformation of knee |
| Q742 | Other congenital malformations of lower limb(s), including pelvic girdle |
| Q743 | Arthrogryposis multiplex congenita |
| Q748 | Other specified congenital malformations of limb(s) |
| Q749 | Unspecified congenital malformation of limb(s) |
| Q75 | Other congenital malformations of skull and face bones |
| Q750 | Craniosynostosis |
| Q751 | Craniofacial dysostosis |
| Q752 | Hypertelorism |
| Q753 | Macrocephaly |
| Q754 | Mandibulofacial dysostosis |
| Q755 | Oculomandibular dysostosis |
| Q758 | Other specified congenital malformations of skull and face bones |
| Q759 | Congenital malformation of skull and face bones, unspecified |
| Q76 | Congenital malformations of spine and bony thorax |
| Q760 | Spina bifida occulta |
| Q761 | Klippel-Feil syndrome |
| Q762 | Congenital spondylolisthesis |
| Q763 | Congenital scoliosis due to congenital bony malformation |
| Q764 | Other congenital malformations of spine, not associated with scoliosis |
| Q765 | Cervical rib |
| Q766 | Other congenital malformations of ribs |
| Q767 | Congenital malformation of sternum |
| Q768 | Other congenital malformations of bony thorax |
| Q769 | Congenital malformation of bony thorax, unspecified |
| Q77 | Osteochondrodysplasia with defects of growth of tubular bones and spine |
| Q770 | Achondrogenesis |
| Q771 | Thanatophoric short stature |
| Q772 | Short rib syndrome |
| Q773 | Chondrodysplasia punctata |
| Q774 | Achondroplasia |
| Q775 | Dystrophic dysplasia |
| Q776 | Chondroectodermal dysplasia |
| Q777 | Spondyloepiphyseal dysplasia |
| Q778 | Other osteochondrodysplasia with defects of growth of tubular bones and spine |
| Q779 | Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified |
| Q78 | Other osteochondrodysplasias |
| Q780 | Osteogenesis imperfecta |
| Q781 | Polyostotic fibrous dysplasia |
| Q782 | Osteopetrosis |
| Q783 | Progressive diaphyseal dysplasia |
| Q784 | Enchondromatosis |
| Q785 | Metaphyseal dysplasia |
| Q786 | Multiple congenital exostoses |
| Q788 | Other specified osteochondrodysplasias |
| Q789 | Osteochondrodysplasia, unspecified |
| Q79 | Congenital malformations of the musculoskeletal system, not elsewhere classified |
| Q790 | Congenital diaphragmatic hernia |
| Q791 | Other congenital malformations of diaphragm |
| Q792 | Exomphalos |
| Q793 | Gastroschisis |
| Q794 | Prune belly syndrome |
| Q795 | Other congenital malformations of abdominal wall |
| Q796 | Ehlers-Danlos syndrome |
| Q798 | Other congenital malformations of musculoskeletal system |
| Q799 | Congenital malformation of musculoskeletal system, unspecified |
| Q80 | Congenital ichthyosis |
| Q80-Q89 | Other congenital malformations |
| Q800 | Ichthyosis vulgaris |
| Q801 | X-linked ichthyosis |
| Q802 | Lamellar ichthyosis |
| Q803 | Congenital bullous ichthyosiform erythroderma |
| Q804 | Harlequin fetus |
| Q808 | Other congenital ichthyosis |
| Q809 | Congenital ichthyosis, unspecified |
| Q81 | Epidermolysis bullosa |
| Q810 | Epidermolysis bullosa simplex |
| Q811 | Epidermolysis bullosa letalis |
| Q812 | Epidermolysis bullosa dystrophica |
| Q818 | Other epidermolysis bullosa |
| Q819 | Epidermolysis bullosa, unspecified |
| Q82 | Other congenital malformations of skin |
| Q820 | Hereditary lymphoedema |
| Q821 | Xeroderma pigmentosum |
| Q822 | Mastocytosis |
| Q823 | Incontinentia pigmenti |
| Q824 | Ectodermal dysplasia (anhidrotic) |
| Q825 | Congenital non-neoplastic naevus |
| Q828 | Other specified congenital malformations of skin |
| Q829 | Congenital malformation of skin, unspecified |
| Q83 | Congenital malformations of breast |
| Q830 | Congenital absence of breast with absent nipple |
| Q831 | Accessory breast |
| Q832 | Absent nipple |
| Q833 | Accessory nipple |
| Q838 | Other congenital malformations of breast |
| Q839 | Congenital malformation of breast, unspecified |
| Q84 | Other congenital malformations of integument |
| Q840 | Congenital alopecia |
| Q841 | Congenital morphological disturbances of hair, not elsewhere classified |
| Q842 | Other congenital malformations of hair |
| Q843 | Anonychia |
| Q844 | Congenital leukonychia |
| Q845 | Enlarged and hypertrophic nails |
| Q846 | Other congenital malformations of nails |
| Q848 | Other specified congenital malformations of integument |
| Q849 | Congenital malformation of integument, unspecified |
| Q85 | Phakomatoses, not elsewhere classified |
| Q850 | Neurofibromatosis (nonmalignant) |
| Q851 | Tuberous sclerosis |
| Q858 | Other phakomatoses, not elsewhere classified |
| Q859 | Phakomatosis, unspecified |
| Q86 | Congenital malformation syndromes due to known exogenous causes, not elsewhere classified |
| Q860 | Fetal alcohol syndrome (dysmorphic) |
| Q861 | Fetal hydantoin syndrome |
| Q862 | Dysmorphism due to warfarin |
| Q868 | Other congenital malformation syndromes due to known exogenous causes |
| Q87 | Other specified congenital malformation syndromes affecting multiple systems |
| Q870 | Congenital malformation syndromes predominantly affecting facial appearance |
| Q871 | Congenital malformation syndromes predominantly associated with short stature |
| Q872 | Congenital malformation syndromes predominantly involving limbs |
| Q873 | Congenital malformation syndromes involving early overgrowth |
| Q874 | Marfan syndrome |
| Q875 | Other congenital malformation syndromes with other skeletal changes |
| Q878 | Other specified congenital malformation syndromes, not elsewhere classified |
| Q89 | Other congenital malformations, not elsewhere classified |
| Q890 | Congenital malformations of spleen |
| Q891 | Congenital malformations of adrenal gland |
| Q892 | Congenital malformations of other endocrine glands |
| Q893 | Situs inversus |
| Q894 | Conjoined twins |
| Q897 | Multiple congenital malformations, not elsewhere classified |
| Q898 | Other specified congenital malformations |
| Q899 | Congenital malformation, unspecified |
| Q90 | Down syndrome |
| Q90-Q99 | Chromosomal abnormalities, not elsewhere classified |
| Q900 | Trisomy 21, meiotic nondisjunction |
| Q901 | Trisomy 21, mosaicism (mitotic nondisjunction) |
| Q902 | Trisomy 21, translocation |
| Q909 | Down syndrome, unspecified |
| Q91 | Edwards syndrome and Patau syndrome |
| Q910 | Trisomy 18, meiotic nondisjunction |
| Q911 | Trisomy 18, mosaicism (mitotic nondisjunction) |
| Q912 | Trisomy 18, translocation |
| Q913 | Edwards syndrome, unspecified |
| Q914 | Trisomy 13, meiotic nondisjunction |
| Q915 | Trisomy 13, mosaicism (mitotic nondisjunction) |
| Q916 | Trisomy 13, translocation |
| Q917 | Patau syndrome, unspecified |
| Q92 | Other trisomies and partial trisomies of the autosomes, not elsewhere classified |
| Q920 | Whole chromosome trisomy, meiotic nondisjunction |
| Q921 | Whole chromosome trisomy, mosaicism (mitotic nondisjunction) |
| Q922 | Major partial trisomy |
| Q923 | Minor partial trisomy |
| Q924 | Duplications seen only at prometaphase |
| Q925 | Duplications with other complex rearrangements |
| Q926 | Extra marker chromosomes |
| Q927 | Triploidy and polyploidy |
| Q928 | Other specified trisomies and partial trisomies of autosomes |
| Q929 | Trisomy and partial trisomy of autosomes, unspecified |
| Q93 | Monosomies and deletions from the autosomes, not elsewhere classified |
| Q930 | Whole chromosome monosomy, meiotic nondisjunction |
| Q931 | Whole chromosome monosomy, mosaicism (mitotic nondisjunction) |
| Q932 | Chromosome replaced with ring or dicentric |
| Q933 | Deletion of short arm of chromosome 4 |
| Q934 | Deletion of short arm of chromosome 5 |
| Q935 | Other deletions of part of a chromosome |
| Q936 | Deletions seen only at prometaphase |
| Q937 | Deletions with other complex rearrangements |
| Q938 | Other deletions from the autosomes |
| Q939 | Deletion from autosomes, unspecified |
| Q95 | Balanced rearrangements and structural markers, not elsewhere classified |
| Q950 | Balanced translocation and insertion in normal individual |
| Q951 | Chromosome inversion in normal individual |
| Q952 | Balanced autosomal rearrangement in abnormal individual |
| Q953 | Balanced sex/autosomal rearrangement in abnormal individual |
| Q954 | Individuals with marker heterochromatin |
| Q955 | Individuals with autosomal fragile site |
| Q958 | Other balanced rearrangements and structural markers |
| Q959 | Balanced rearrangement and structural marker, unspecified |
| Q96 | Turner syndrome |
| Q960 | Karyotype 45,X |
| Q961 | Karyotype 46,X iso (Xq) |
| Q962 | Karyotype 46,X with abnormal sex chromosome, except iso (Xq) |
| Q963 | Mosaicism, 45,X/46,XX or XY |
| Q964 | Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome |
| Q968 | Other variants of Turner syndrome |
| Q969 | Turner syndrome, unspecified |
| Q97 | Other sex chromosome abnormalities, female phenotype, not elsewhere classified |
| Q970 | Karyotype 47,XXX |
| Q971 | Female with more than three X chromosomes |
| Q972 | Mosaicism, lines with various numbers of X chromosomes |
| Q973 | Female with 46,XY karyotype |
| Q978 | Other specified sex chromosome abnormalities, female phenotype |
| Q979 | Sex chromosome abnormality, female phenotype, unspecified |
| Q98 | Other sex chromosome abnormalities, male phenotype, not elsewhere classified |
| Q980 | Klinefelter syndrome karyotype 47,XXY |
| Q981 | Klinefelter syndrome, male with more than two X chromosomes |
| Q982 | Klinefelter syndrome, male with 46,XX karyotype |
| Q983 | Other male with 46,XX karyotype |
| Q984 | Klinefelter syndrome, unspecified |
| Q985 | Karyotype 47,XYY |
| Q986 | Male with structurally abnormal sex chromosome |
| Q987 | Male with sex chromosome mosaicism |
| Q988 | Other specified sex chromosome abnormalities, male phenotype |
| Q989 | Sex chromosome abnormality, male phenotype, unspecified |
| Q99 | Other chromosome abnormalities, not elsewhere classified |
| Q990 | Chimera 46,XX/46,XY |
| Q991 | 46,XX true hermaphrodite |
| Q992 | Fragile X chromosome |
| Q998 | Other specified chromosome abnormalities |
| Q999 | Chromosomal abnormality, unspecified |
| XVII | Congenital malformations, deformations and chromosomal abnormalities |
Codes not in the full codelist are in faint grey.