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 |