Congenital Anomalies
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1 Congenital Anomalies Down Syndrome DOWN''S SYNDROME Q900 Q90.0 : Trisomy 21, meiotic nondisjunction DOWN''S SYNDROME Q901 Q90.1 : Trisomy 21, mosaicism (mitotic nondisjunction) DOWN''S SYNDROME Q902 Q90.2 : Trisomy 21, translocation DOWN''S SYNDROME Q909 Q90.9 : Downs syndrome, unspecified Neural Tube Defects ANENCEPHALUS Q000 Q00.0 : Anencephaly CRANIORACHISCHISIS Q001 Q00.1 : Craniorachischisis INIENCEPHALY Q002 Q00.2 : Iniencephaly ENCEPHALOCELE Q010 Q01.0 : Frontal encephalocele ENCEPHALOCELE Q011 Q01.1 : Nasofrontal encephalocele ENCEPHALOCELE Q012 Q01.2 : Occipital encephalocele ENCEPHALOCELE Q018 Q01.8 : Encephalocele of other sites ENCEPHALOCELE Q019 Q01.9 : Encephalocele, unspecified SPINA BIFIDA W HYDROCEPHALUS Q050 Q05.0 : Cervical spina bifida with hydrocephalus SPINA BIFIDA W HYDROCEPHALUS Q051 Q05.1 : Thoracic spina bifida with hydrocephalus SPINA BIFIDA W HYDROCEPHALUS Q052 Q05.2 : Lumbar spina bifida with hydrocephalus SPINA BIFIDA W HYDROCEPHALUS Q053 Q05.3 : Sacral spina bifida with hydrocephalus SPINA BIFIDA W HYDROCEPHALUS Q054 Q05.4 : Unspecified spina bifida with hydrocephalus SPINA BIFIDA W/O HYDROCEPHALUS Q055 Q05.5 : Cervical spina bifida without hydrocephalus SPINA BIFIDA W/O HYDROCEPHALUS Q056 Q05.6 : Thoracic spina bifida without hydrocephalus SPINA BIFIDA W/O HYDROCEPHALUS Q057 Q05.7 : Lumbar spina bifida without hydrocephalus SPINA BIFIDA W/O HYDROCEPHALUS Q058 Q05.8 : Sacral spina bifida without hydrocephalus SPINA BIFIDA W/O HYDROCEPHALUS Q059 Q05.9 : Spina bifida, unspecified SPINA BIFIDA W HYDROCEPHALUS Q070 Q07.0 : Arnold-Chiari syndrome Anencephaly and Similar Anomalies ANENCEPHALUS Q000 Q00.0 : Anencephaly CRANIORACHISCHISIS Q001 Q00.1 : Craniorachischisis INIENCEPHALY Q002 Q00.2 : Iniencephaly 1
2 Spina Bifida SPINA BIFIDA W HYDROCEPHALUS Q050 Q05.0 : Cervical spina bifida with hydrocephalus SPINA BIFIDA W HYDROCEPHALUS Q051 Q05.1 : Thoracic spina bifida with hydrocephalus SPINA BIFIDA W HYDROCEPHALUS Q052 Q05.2 : Lumbar spina bifida with hydrocephalus SPINA BIFIDA W HYDROCEPHALUS Q053 Q05.3 : Sacral spina bifida with hydrocephalus SPINA BIFIDA W HYDROCEPHALUS Q054 Q05.4 : Unspecified spina bifida with hydrocephalus SPINA BIFIDA W/O HYDROCEPHALUS Q055 Q05.5 : Cervical spina bifida without hydrocephalus SPINA BIFIDA W/O HYDROCEPHALUS Q056 Q05.6 : Thoracic spina bifida without hydrocephalus SPINA BIFIDA W/O HYDROCEPHALUS Q057 Q05.7 : Lumbar spina bifida without hydrocephalus SPINA BIFIDA W/O HYDROCEPHALUS Q058 Q05.8 : Sacral spina bifida without hydrocephalus SPINA BIFIDA W/O HYDROCEPHALUS Q059 Q05.9 : Spina bifida, unspecified SPINA BIFIDA W HYDROCEPHALUS Q070 Q07.0 : Arnold-Chiari syndrome Congenital Heart Defects COMMON TRUNCUS Q200 Q20.0 : Common arterial trunk TRANSPOSITION OF GREAT VESSELS Q201 Q20.1 : Double outlet right ventricle TRANSPOSITION OF GREAT VESSELS Q202 Q20.2 : Double outlet left ventricle TRANSPOSITION OF GREAT VESSELS Q2030 Q20.30 : Dextratransposition of aorta TRANSPOSITION OF GREAT VESSELS Q2031 Q20.31 : Complete transposition of great vessels TRANSPOSITION OF GREAT VESSELS Q2032 Q20.32 : Congenitally corrected transposition of great vessels TRANSPOSITION OF GREAT VESSELS Q2038 Q20.38 : Other transposition of great vessels NEC COMMON VENTRICLE Q204 Q20.4 : Double inlet ventricle TRANSPOSITION OF GREAT VESSELS Q2050 Q20.50 : Discordant atrioventricular connection with corrected transposition TRANSPOSITION OF GREAT VESSELS Q2058 Q20.58 : Discordant atrioventricular connection NEC Q206 Q20.6 : Isomerism of atrial appendages ENDOCARDIAL CUSHION DEFECTS Q212 Q21.2 : Atrioventricular septal defect TETRALOGY OF FALLOT Q213 Q21.3 : Tetralogy of Fallot COMMON TRUNCUS Q214 Q21.4 : Aortopulmonary septal defect VENTRICULAR SEPTAL DEFECT Q210 Q21.8 : Other congenital malformations of cardiac septa ANOMALIES OF PULMONARY VALVE Q220 Q22.0 : Pulmonary valve atresia ANOMALIES OF PULMONARY VALVE Q221 Q22.1 : Congenital pulmonary valve stenosis TRICUSPD ATRESIA,STENOSIS-CONGENIT Q224 Q22.4 : Congenital tricuspid atresia EBSTEIN''S ANOMALY Q225 Q22.5 : Ebsteins anomaly Q226 Q22.6 : Hypoplastic right heart syndrome 2
3 CONGENITAL STENOSIS AORTIC VALVE Q230 Q23.0 : Congenital stenosis of aortic valve HYPOPLASTIC LEFT HEART SYNDROME Q234 Q23.4 : Hypoplastic left heart syndrome COARCTATION OF AORTA Q251 Q25.1 : Coarctation of aorta OTHER ANOMALIES OF AORTA Q252 Q25.2 : Atresia of aorta OTHER ANOMALIES OF AORTA Q253 Q25.3 : Stenosis of aorta OTHER ANOMALIES OF AORTA Q254 Q25.4 : Other congenital malformations of aorta ANOMALIES OF PULMONARY ARTERY Q255 Q25.5 : Atresia of pulmonary artery ANOMALIES OF GREAT VEINS Q262 Q26.2 : Total anomalous pulmonary venous connection ANOMALIES OF GREAT VEINS Q263 Q26.3 : Partial anomalous pulmonary venous connection Hypoplastic Left Heart Syndrome HYPOPLASTIC LEFT HEART SYNDROME Q234 Q23.4 : Hypoplastic left heart syndrome Cleft Palate or Cleft lip With or Without Cleft Palate CLEFT PALATE Q351 Q35.1 : Cleft hard palate CLEFT PALATE Q353 Q35.3 : Cleft soft palate CLEFT PALATE Q355 Q35.5 : Cleft hard palate with cleft soft palate CLEFT PALATE Q357 Q35.7 : Cleft uvula CLEFT PALATE Q359 Q35.9 : Cleft palate, unspecified CLEFT LIP Q36 Q36 : Cleft lip CLEFT PALATE Q37 Q37 : Cleft palate with cleft lip Limb Reductions REDUCTION DEFORMITIES OF UPR LIMB Q710 Q71.0 : Congenital complete absence of upper limb(s) REDUCTION DEFORMITIES OF UPR LIMB Q711 Q71.1 : Congenital absence of upper arm and forearm with hand present REDUCTION DEFORMITIES OF UPR LIMB Q712 Q71.2 : Congenital absence of both forearm and hand REDUCTION DEFORMITIES OF UPR LIMB Q713 Q71.3 : Congenital absence of hand and finger(s) REDUCTION DEFORMITIES OF UPR LIMB Q714 Q71.4 : Longitudinal reduction defect of radius REDUCTION DEFORMITIES OF UPR LIMB Q715 Q71.5 : Longitudinal reduction defect of ulna REDUCTION DEFORMITIES OF UPR LIMB Q718 Q71.8 : Other reduction defects of upper limb(s) REDUCTION DEFORMITIES OF UPR LIMB Q719 Q71.9 : Reduction defect of upper limb, unspecified REDUCTION DEFORMITIES OF LWR LIMB Q720 Q72.0 : Congenital complete absence of lower limb(s) REDUCTION DEFORMITIES OF LWR LIMB Q721 Q72.1 : Congenital absence of thigh and lower leg with foot present REDUCTION DEFORMITIES OF LWR LIMB Q722 Q72.2 : Congenital absence of both lower leg and foot 3
4 REDUCTION DEFORMITIES OF LWR LIMB Q723 Q72.3 : Congenital absence of foot and toe(s) REDUCTION DEFORMITIES OF LWR LIMB Q724 Q72.4 : Longitudinal reduction defect of femur REDUCTION DEFORMITIES OF LWR LIMB Q725 Q72.5 : Longitudinal reduction defect of tibia REDUCTION DEFORMITIES OF LWR LIMB Q726 Q72.6 : Longitudinal reduction defect of fibula REDUCTION DEFORMITIES OF LWR LIMB Q727 Q72.7 : Split foot REDUCTION DEFORMITIES OF LWR LIMB Q728 Q72.8 : Other reduction defects of lower limb(s) REDUCTION DEFORMITIES OF LWR LIMB Q729 Q72.9 : Reduction defect of lower limb, unspecified REDUCTION DEFORMITIES, UNSPC LIMB Q730 Q73.0 : Congenital absence of unspecified limb(s) REDUCTION DEFORMITIES, UNSPC LIMB Q731 Q73.1 : Phocomelia, unspecified limb(s) REDUCTION DEFORMITIES, UNSPC LIMB Q738 Q73.8 : Other reduction defects of unspecified limb(s) Hydrocephalus CONGENITAL HYDROCEPHALUS Q030 Q03.0 : Malformations of aqueduct of Sylvius CONGENITAL HYDROCEPHALUS Q031 Q03.1 : Atresia of foramina of Magendie and Luschka CONGENITAL HYDROCEPHALUS Q038 Q03.8 : Other congenital hydrocephalus CONGENITAL HYDROCEPHALUS Q039 Q03.9 : Congenital hydrocephalus, unspecified Oesophageal Atresia/Stenoisis TRACHEOESOPHAGEAL FIST,ATRES,STENO Q390 Q39.0 : Atresia of oesophagus without fistula TRACHEOESOPHAGEAL FIST,ATRES,STENO Q391 Q39.1 : Atresia of oesophagus with tracheo-oesophageal fistula TRACHEOESOPHAGEAL FIST,ATRES,STENO Q392 Q39.2 : Congenital tracheo-oesophageal fistula without atresia TRACHEOESOPHAGEAL FIST,ATRES,STENO Q393 Q39.3 : Congenital stenosis and stricture of oesophagus TRACHEOESOPHAGEAL FIST,ATRES,STENO Q394 Q39.4 : Oesophageal web Anorectal and Large Intestine Atresia/Stenoisis ATRES,STEN LRG INTEST,RECTM,ANAL C Q420 Q42.0 : Congenital absence, atresia and stenosis of rectum with fistula ATRES,STEN LRG INTEST,RECTM,ANAL C Q421 Q42.1 : Congenital absence, atresia and stenosis of rectum without fistula ATRES,STEN LRG INTEST,RECTM,ANAL C Q422 Q42.2 : Congenital absence, atresia and stenosis of anus with fistula ATRES,STEN LRG INTEST,RECTM,ANAL C Q423 Q42.3 : Congenital absence, atresia and stenosis of anus without fistula ATRES,STEN LRG INTEST,RECTM,ANAL C Q428 Q42.8 : Congenital absence, atresia and stenosis of other parts of large intestine ATRES,STEN LRG INTEST,RECTM,ANAL C Q429 Q42.9 : Congenital absence, atresia and stenosis of large intestine, part unspecified Hypospadias and Epispadia 4
5 ANOM Q540 Q54.0 : Hypospadias, balanic ANOM Q541 Q54.1 : Hypospadias, penile ANOM Q542 Q54.2 : Hypospadias, penoscrotal ANOM Q543 Q54.3 : Hypospadias, perineal ANOM Q544 Q54.4 : Congenital chordee ANOM Q548 Q54.8 : Other hypospadias ANOM Q549 Q54.9 : Hypospadias, unspecified ANOM Q5560 Q55.60 : Hypoplasia of penis ANOM Q5568 Q55.68 : Other congenital malformations of penis ANOM Q640 Q64.0 : Epispadias Gastroschisis ANOMALIES OF ABDOMINAL WALL Q792 Q79.2 : Exomphalos ANOMALIES OF ABDOMINAL WALL Q793 Q79.3 : Gastroschisis ANOMALIES OF ABDOMINAL WALL Q795 Q79.5 : Other congenital malformations of abdominal wall Renal Agenesis/Hypoplasia RENAL AGENESIS AND DYSGENESIS Q600 Q60.0 : Renal agenesis, unilateral RENAL AGENESIS AND DYSGENESIS Q601 Q60.1 : Renal agenesis, bilateral RENAL AGENESIS AND DYSGENESIS Q602 Q60.2 : Renal agenesis, unspecified RENAL AGENESIS AND DYSGENESIS Q603 Q60.3 : Renal hypoplasia, unilateral RENAL AGENESIS AND DYSGENESIS Q604 Q60.4 : Renal hypoplasia, bilateral RENAL AGENESIS AND DYSGENESIS Q605 Q60.5 : Renal hypoplasia, unspecified RENAL AGENESIS AND DYSGENESIS Q606 Q60.6 : Potters syndrome 5
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