ICD-10 Chapter XVII



Coding system
ICD-10
Coding system release
unknown
Organisation
OpenSAFELY
Codelist ID
opensafely/icd-10-chapter-xvii
Version ID
7fed2e05

Versions
  • 7fed2e05

No metadata has been provided for this codelist.


Codelists are developed by a broad community of users for individual study purposes, which may or may not meet the needs of other studies. They should not be thought of as universal definitions of a particular condition.

We don't offer any guarantees about what they do or don't identify. Users should carefully check that any codelist meets their needs, and seek clinical input where appropriate.

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.