| Q000 |
Anencephaly |
| Q001 |
Craniorachischisis |
| Q002 |
Iniencephaly |
| Q010 |
Frontal encephalocele |
| Q011 |
Nasofrontal encephalocele |
| Q012 |
Occipital encephalocele |
| Q018 |
Encephalocele of other sites |
| Q019 |
Encephalocele, unspecified |
| Q02 |
Microcephaly |
| Q030 |
Malformations of aqueduct of Sylvius |
| Q031 |
Atresia of foramina of Magendie and Luschka |
| Q038 |
Other congenital hydrocephalus |
| Q039 |
Congenital hydrocephalus, unspecified |
| 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 |
| 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, unsepcified |
| 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 |
| Q070 |
Arnold-Chiari syndrome |
| Q078 |
Other specified congenital malformations of nervous
system |
| Q079 |
Congenital malformations of nervous system,
unspecified |
| 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 |
| Q110 |
Cystic eyeball |
| Q111 |
Other anophthalmos |
| Q112 |
Microphthalmos |
| Q113 |
Macrophthalmos |
| 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 |
| 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 |
| 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 |
| Q150 |
Congenital glaucoma |
| Q158 |
Other specified congenital malformations of eye |
| Q159 |
Congenital malformation of eye, unspecified |
| Q160 |
Congenital absence of ( ear ) auricle |
| Q161 |
Congenital absence, atresia and stricture of
auditory canal ( external ) |
| Q162 |
Absence of eustachian tube |
| Q163 |
Congenital malformations 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 |
| 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 |
| 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 maiformation of face and neck,
unspecified |
| 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 |
| 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 |
| 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's anomaly |
| Q226 |
Hypoplastic right heart syndrome |
| Q228 |
Other congenital malformations of tricuspid valve |
| Q229 |
Congenital malformation of tricusoid valve,
unspecified |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 peripgeral vascular
system, unspecified |
| 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 |
| 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 |
| 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 |
| Q320 |
Congenital tracheomalacia |
| Q321 |
Other congenital malformations of trachea |
| Q322 |
Congenital bronchomalacia |
| Q323 |
Congenital stenosis of bronchus |
| Q324 |
Other congenital malformations of bronchus |
| 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 |
| Q340 |
Anomaly of pleura |
| Q341 |
Congenital cyst of mediastinum |
| Q348 |
Other specified congenital malformations of
respiratory system |
| Q349 |
Congenital malformation of respiratory system,
unspecified |
| Q351 |
Cleft hard palate |
| Q353 |
Cleft soft palate |
| Q355 |
Cleft hard palate with cleft soft palate |
| Q357 |
Cleft uvula |
| Q359 |
Cleft palate, unspecified |
| Q360 |
Cleft lip, bilateral |
| Q361 |
Cleft lip, median |
| Q369 |
Cleft lip, unilateral |
| 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 |
| Q380 |
Congenital malformations of lip, not elsewhere classified |
| Q381 |
Ankyloglossia |
| Q382 |
Macroglossia |
| Q383 |
Other congenital malformation of tongue |
| Q3830 |
Aglossia |
| Q3831 |
Bifid tongue |
| Q3832 |
Adhesion of tongue, congenital |
| Q3833 |
Fissure of tongue, congenital |
| Q3834 |
Microglossia |
| Q3838 |
Other specified congenital malformations of tongue |
| Q3839 |
Congenital malformation of tongue, unspecified |
| Q384 |
Congenital malformations of salivary glands and
ducts |
| Q3840 |
Absence of salivary gland or duct |
| Q3841 |
Accessory salivary gland or duct |
| Q3842 |
Atresia of salivary gland or duct |
| Q3843 |
Congenital fistula of salivary gland |
| Q3848 |
Other specified congenital malformations of
salivary glands and ducts |
| Q3849 |
Congenital malformation of salivary glands and
ducts,unspecified |
| Q385 |
Congenital malformations of palate, unspecified |
| Q3850 |
Absence of uvula |
| Q3851 |
High arched palate |
| Q3858 |
Other specified congenital malformations of palate |
| Q3859 |
Congenital malformation of palate, unspecified |
| Q386 |
Other congenital malformations of mouth |
| Q3860 |
Fordyce condition [Fordyce disease] |
| Q3861 |
White sponge naevus [leukokeratosis oris] |
| Q3868 |
Other specified congenital malformations of mouth |
| Q3869 |
Congenital malformation of mouth, unspecified |
| Q387 |
Pharyngeal pouch |
| Q388 |
Other congenital malformation of pharynx |
| 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 |
Oesophageal web |
| Q395 |
Congenital dilatation of oesophagus |
| Q396 |
Diverticulum of oesophfgus |
| Q398 |
Other congenital malformations of oesophagus |
| Q399 |
Congenital malformation of oesophagus, unspecified |
| Q400 |
Congenital hypertrophic pyloric stenosis |
| Q401 |
Congenital hiatus hernia |
| Q402 |
Other specified congenital malformations of stomach |
| Q403 |
Congenital malformation of stomach, unspecified |
| Q404 |
Congenital microvillous atrophy |
| Q408 |
Other specified congenital malformations of upper alimentary
tract |
| Q409 |
Congenital malformation of upper alimentary tract,
unspecified |
| Q4100 |
Duodenal web |
| Q4108 |
Other congenital absence, atresia and stenosis of
duodenum |
| Q4109 |
Congenital absence, atresia and stenosis of
duodenum, unspecified |
| 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
part of small intestine |
| Q419 |
Congenital absence, atresia and stenosis of small
intestine, part unspecified |
| 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 |
| Q430 |
Meckel's diverticulum |
| Q431 |
Hirschsprung's 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 |
| Q440 |
Agenesis, aplasia and hypoplasia of gallbladder |
| Q441 |
Other congenital malformations of gallbladder |
| Q442 |
Atresia of bile bucts |
| Q443 |
Congenital stenosis and stricture of bile ducts |
| Q444 |
Choledochal cyst |
| Q445 |
Other congenital malformations of bile ducts |
| Q446 |
Cystic disease of liver |
| Q4470 |
Alagille Syndrome |
| Q4471 |
Progressive familial intrahepatic cholestasis |
| Q4478 |
Other congenital malformations of liver |
| Q4479 |
Congenital malformations of liver, unspecified |
| Q450 |
Agenesis, aplasia and hpopolasia of pancreas |
| Q451 |
Annular pancreas |
| Q452 |
Congenital pancreatic cyst |
| Q453 |
Other congenital malformations of pancreas and
pancrestic duct |
| Q458 |
Other specified congenital malformations of
digestive system |
| Q459 |
Congenital malformation of digestive system,
unspecified |
| 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 fallopiab tube
and broad ligament |
| 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 teacts |
| Q518 |
Other congenital malformations of uterus and cervix |
| Q519 |
Congenital malformation of uterus and cervix,
unspecified |
| 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 malformaations of female
genitalia |
| Q529 |
Congenital malformation of female genitalia,
unspecified |
| Q530 |
Ectopic testis |
| Q531 |
Undescended testicle, unilateral |
| Q532 |
Undescended testicle, bilateral |
| Q539 |
Undescended testicls, unspecified |
| Q540 |
Hypospadias, balanic |
| Q541 |
Hypospadias, penile |
| Q542 |
Hypospadias, penoscrotal |
| Q543 |
Hypospadias, perineal |
| Q544 |
Congenital chordee |
| Q548 |
Other hypospadias |
| Q549 |
Hypospadias, unspecified |
| 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 aplseia of penis |
| Q556 |
Other congenital malformations of penis |
| Q558 |
Other specified congenital malformations of male
genital organs |
| Q559 |
Congenital malformation of male genital orgen,
unspecified |
| Q560 |
Hermaphroditism, not elsewhere classified |
| Q561 |
Male pseudohermaphroditism, not elsewhere
classified |
| Q562 |
Female pseudohermaphroditism, not elsewhere classified |
| Q563 |
Pseudohermaphroditism, unspecified |
| Q564 |
Indeterminate sex, unspecified |
| 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's syndrome |
| Q610 |
Congenital single renal cyst |
| Q611 |
Polycystic kidney. infantile type |
| Q612 |
Polycystic kidney, adukt type |
| Q613 |
Polycystic kidney, unspecified |
| Q614 |
Renal dysplasia |
| Q615 |
Medullary cystic kidney |
| Q618 |
Other cystic kidney diseases |
| Q619 |
Cystic kidney disease, unspecified |
| Q620 |
Congenital hydronephrosis |
| Q621 |
Atresia and senosis 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 |
Cognenital vesico-uretero-renal reflux |
| Q628 |
Other congenital malformations of ureter |
| 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, unspevified |
| 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 urethra |
| Q645 |
Congenital absence of bladder and urethra |
| Q646 |
Congenital diverticulum of bladder |
| Q647 |
Other congenital malfomations of bladder and
urethra |
| Q648 |
Other specified cogenital malformations of urinary
system |
| Q649 |
Congenital malformation of urinary system,
unspecified |
| 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 |
| 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 |
| Q670 |
Facial asymmetry |
| Q671 |
Compression facies |
| Q672 |
Dolichocephaly |
| Q673 |
Plagiocephaly |
| Q6740 |
Hemifacial atrophy |
| Q6741 |
Hemifacial hypertrophy |
| Q6748 |
Other specified congenital deformities of skull,
face and jaw |
| Q6749 |
Congenital deformity of skull, face or jaw,
unspecified |
| Q675 |
Congenital deformity of spine |
| Q676 |
Pectus excavatum |
| Q677 |
Pectus carinatum |
| Q678 |
Other congenital deformities of chest |
| 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 |
| Q6880 |
Congenital deformity of clavicle |
| Q6881 |
Congenital deformity of elbow |
| Q6882 |
Congenital deformity of forearm |
| Q6883 |
Congenital deformity of scapula |
| Q6884 |
Congenital dislocation of elbow |
| Q6885 |
Congenital dislocation of shoulder |
| Q6888 |
Other specified congenital musculoskeletal
deformities |
| Q690 |
Accessory finger(s) |
| Q691 |
Accessory thumc(s) |
| Q692 |
Accessory toe(s) |
| Q699 |
Polydactyly, unspecified |
| Q700 |
Fused fingers |
| Q701 |
Webbed fingers |
| Q702 |
Fused toes |
| Q703 |
Webbed toes |
| Q704 |
Polysyndactyly |
| Q709 |
Syndactyly, unspecified |
| 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 hend |
| Q7130 |
Congenital absence of hand |
| Q7131 |
Congenital absence of finger(s) |
| Q7132 |
Congenital absence of thumb |
| Q7133 |
Congenital hypoplastic thumb |
| Q7138 |
Other 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 |
| 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 |
| Q7230 |
Congenital absence of foot |
| Q7231 |
Congenital absence of toe(s) |
| Q724 |
Longitudinal reduction defect of femur |
| Q725 |
Longitudinal reduction drfect 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 |
| Q730 |
Congenital absence of unspecifiec limb(s) |
| Q731 |
Phocomelia, ubapecified limb(s) |
| Q738 |
Other reduction defects of unspecified limb(s) |
| Q740 |
Other congenital malrormations of upper limb(s),
including shoulder girdle |
| Q741 |
Cohgenital 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) |
| Q7500 |
Acrocephaly |
| Q7501 |
Imperfect fusion of skull |
| Q7502 |
Oxycephaly |
| Q7503 |
Trigonocephaly |
| Q7509 |
Craniosynostosis, unspecified |
| 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 |
| Q760 |
Spina bifida occulta |
| Q761 |
Klippel-Feil syndrome |
| Q7620 |
Congenital spondylolisthesis |
| Q7621 |
Congenital spondylolysis |
| 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 |
| Q770 |
Achondrogenesis |
| Q771 |
Thanatophoric short stature |
| Q772 |
Short rib syndrome |
| Q773 |
Chondrodysplasia punctata |
| Q774 |
Achondroplasia |
| Q775 |
Diastrophic 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 |
| 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 osteochondredysplasias |
| Q789 |
Osteochondrodysplasia, unspecified |
| Q790 |
Congenital diaphragmatic hernis |
| Q791 |
Other congenital malrormations 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 sysstem,
unspecified |
| 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 |
| Q810 |
Epidermolysis bullosa simplex |
| Q811 |
Epidermolysis bullosa letalis |
| Q812 |
Epidermolysis bullosa dystrophica |
| Q818 |
Other epidermolysis bullosa |
| Q819 |
Epidermolysis bullosa, unspecified |
| Q820 |
Hereditary lymphoedema |
| Q821 |
Xeroderma pigmentosum |
| Q822 |
Mastocytosis |
| Q823 |
Incontinentia pigmenti |
| Q824 |
Ectodermal dysplasia (anhidrotic) |
| Q825 |
Congenital non-neoplastic naevus |
| Q8280 |
Benign familial pemphigus [Hailey-Haiey] |
| Q8281 |
Keratosis follicularis [Darier- White] |
| Q8282 |
Inherited keratosis palmaris et plantaris |
| Q8283 |
Dyskeratosis congenita |
| Q8284 |
Pseudoxanthoma elasticum |
| Q8285 |
Acrokeratosis verruciformis |
| Q8288 |
Other specified congenital malformations of skin |
| Q829 |
Congenital malformation of skin, unspecified |
| Q830 |
Congenital absence of berast with abstnt nipple |
| Q831 |
Accessory breast |
| Q832 |
Absent nipple |
| Q833 |
Accessory nipple |
| Q838 |
Other congenital malformations of breast |
| Q839 |
Congenital malformation of breast, unspecified |
| Q840 |
Congenital alopecia |
| Q841 |
Congenital mouphological 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 malfoirmations of
integument |
| Q849 |
Congenital malformation of integument, unspecified |
| Q850 |
Neurofibromatosis (nonmalignant) |
| Q851 |
Tuberors sclerosis |
| Q858 |
Other phakomatoses, not elsewhere classified |
| Q8580 |
Peutz-Jeghers syndrome |
| Q8581 |
Struge-Weber (-Dimitri) syndrome |
| Q8588 |
Other specified phakomatoses |
| Q859 |
Phakomatosis,unspecified |
| Q860 |
Fetal alcohol syndrome (dysmorphic) |
| Q861 |
Fetal hydantoin syndrome |
| Q862 |
Dysmorphism due to warfarin |
| Q868 |
Other congenital malformation syndromes due to
known exogenous causes |
| Q8700 |
Acrocephalosyndactyly [Apert] |
| Q8701 |
Golddnhar’s syndrome |
| Q8702 |
Moebius’ syndrome |
| Q8703 |
Oro-facial-digital syndrome |
| Q8704 |
Treacher Collins syndrome |
| Q8705 |
Robin’s syndrome |
| Q8708 |
Other congenital malformation syndrome
predominantly affecting facial appearance |
| Q871 |
Congenital malformation syndromes predominantly
associated with short stature |
| Q872 |
Congenital malformation syndremes predominantly
involving limbs |
| Q873 |
Congenital malformation syndromes involving early
overgrowth |
| Q874 |
Marfan's syndrome |
| Q875 |
Other congenital malformation syndremes with other
skeletal changes |
| Q878 |
Other specified congenital malformation syndromes,
not elsewhere classified |
| Q890 |
Congenital malformations of spleen |
| Q891 |
Congenital malformations of adrenal gland |
| Q8920 |
Persistent thyroglossal or thyrolingual duct |
| Q8921 |
Thyroglossal cyst |
| Q8922 |
Thyroglossal fistula |
| Q8923 |
Lingual thyroid |
| Q8928 |
Congenital malformations of other endocrine glands |
| Q893 |
Situs inversus |
| Q894 |
Conjoined twins |
| Q897 |
Multiple congenital malformations, not elsewgere
classified |
| Q898 |
Other specified congenital malformations |
| Q899 |
Congenital malformation, unepecified |
| Q900 |
Trisomy 21, meiotic nondisjunction |
| Q901 |
Trisomy 21, mosaicism (mitotic nondisjunction) |
| Q902 |
Trisomy 21, translocation |
| Q909 |
Down's syndrome, unspecified |
| 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's syndrome, unspecified |
| Q920 |
Whole chromosome trisomy, meiotic nondisjunction |
| Q921 |
Whole chromosome trisomy, mosaicism (mitotic
nondisjunction) |
| Q922 |
Major partial trisomy |
| Q923 |
Minor partial triosmy |
| Q924 |
Duplications seen only at prometaphase |
| Q925 |
Duplications with other complex rearrangements |
| Q926 |
Extra marker chromosomes |
| Q927 |
Triploidy and polyploidy |
| Q928 |
Other specified trispmies and partial trisomies of
autosomes |
| Q929 |
Trisomy and partial trisomy of autosomes,
unspecified |
| 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 |
| Q950 |
Balanced translocation and insertion in normal
individual |
| Q951 |
Chromosome inversion in normal indivedual |
| 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 stuctural markers |
| Q959 |
Balanced rearrangement and structural marker,
unspecified |
| 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's syndrome |
| Q969 |
Turner's syndrome, unspecified |
| 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 |
| Q980 |
Klinefelter's syndrome karyotype 47,XXY |
| Q981 |
Klinefelter,s syndrome, male with more than two X
chromosomes |
| Q982 |
Klinefelter's syndriome, male with 46,XX karyotype |
| Q983 |
Other male with 46,XX karyotype |
| Q984 |
Klinefelter's 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 |
| Q990 |
Chimera 46,XX/46,XY |
| Q991 |
46,XX true hermaphrodite |
| Q992 |
Fragile X chromosome |
| Q998 |
Other specified chromosome abnormalities |
| Q999 |
Chromosomal abnormality,unspecified |
