Chapter XVII Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99) Excludes: inborn errors of metabolism ( E70-E90 )  

This chapter contains the following blocks:

Q00-Q07 Congenital malformations of the nervous system Q10-Q18 Congenital malformations of eye, ear, face and neck Q20-Q28 Congenital malformations of the circulatory system Q30-Q34 Congenital malformations of the respiratory system Q35-Q37 Cleft lip and cleft palate Q38-Q45 Other congenital malformations of the digestive system Q50-Q56 Congenital malformations of genital organs Q60-Q64 Congenital malformations of the urinary system Q65-Q79 Congenital malformations and deformations of the musculoskeletal system Q80-Q89 Other congenital malformations Q90-Q99 Chromosomal abnormalities, not elsewhere classified  

Congenital malformations of the nervous system (Q00-Q07)

 Q00     Anencephaly and similar malformations

Q00.0     Anencephaly Acephaly Acrania Amyelencephaly Hemianencephaly Hemicephaly Q00.1     Craniorachischisis Q00.2              Iniencephaly  

 Q01    Encephalocele

Includes: encephalomyelocele hydroencephalocele hydromeningocele, cranial meningocele, cerebral meningoencephalocele Excludes: Meckel-Gruber syndrome ( Q61.9 ) Q01.0    Frontal encephalocele Q01.1 Nasofrontal encephalocele Q01.2 Occipital encephalocele Q01.8 Encephalocele of other sites Q01.9 Encephalocele, unspecified

 Q02   Microcephaly

Hydromicrocephaly Micrencephalon Excludes: Meckel-Gruber syndrome ( Q61.9 )  

 Q03    Congenital hydrocephalus

Includes: hydrocephalus in newborn Excludes: Arnold-Chiari syndrome ( Q07.0 ) hydrocephalus:
  • acquired ( - )
  • due to congenital toxoplasmosis ( 1 )
  • with spina bifida ( 0-Q05.4 )
Q03.0   Malformations of aqueduct of Sylvius Aqueduct of Sylvius:
  • anomaly
  • obstruction, congenital
  • stenosis
Q03.1   Atresia of foramina of Magendie and Luschka Dandy-Walker syndrome Q03.8   Other congenital hydrocephalus Q03.9   Congenital hydrocephalus, unspecified    

 Q04 Other congenital malformations of brain

Excludes: cyclopia ( Q87.0 ) macrocephaly ( Q75.3 ) Q04.0   Congenital malformations of corpus callosum Agenesis of corpus callosum Q04.1 Arhinencephaly Q04.2 Holoprosencephaly Q04.3   Other reduction deformities of brain Absence   Agenesis Aplasia Hypoplasia Agyria Hydranencephaly Lissencephaly Microgyria Pachygyria of part of brain   Excludes:      congenital malformations of corpus callosum ( Q04.0 ) Q04.4 Septo-optic dysplasia Q04.5 Megalencephaly Q04.6 Congenital cerebral cysts Porencephaly Schizencephaly Excludes:      acquired porencephalic cyst ( G93.0 ) Q04.8 Other specified congenital malformations of brain Macrogyria Q04.9 Congenital malformation of brain, unspecified Congenital:
  • anomaly
  • deformity
  • disease or lesion
  • multiple anomalies
NOS of brain    

 Q05   Spina bifida

Includes: hydromeningocele (spinal) meningocele (spinal) meningomyelocele myelocele myelomeningocele rachischisis spina bifida (aperta)(cystica) syringomyelocele Excludes: Arnold-Chiari syndrome ( Q07.0 ) spina bifida occulta ( Q76.0 ) Q05.0    Cervical spina bifida with hydrocephalus Q05.1  Thoracic spina bifida with hydrocephalus Spina bifida:  
  • dorsal
  • thoracolumbar
} with hydrocephalus   Q05.2    Lumbar spina bifida with hydrocephalus Lumbosacral spina bifida with hydrocephalus Q05.3            Sacral spina bifida with hydrocephalus Q05.4    Unspecified spina bifida with hydrocephalus Q05.5    Cervical spina bifida without hydrocephalus Q05.6            Thoracic spina bifida without hydrocephalus Spina bifida:
  • dorsal NOS
  • thoracolumbar NOS
Q05.7    Lumbar spina bifida without hydrocephalus Lumbosacral spina bifida NOS Q05.8    Sacral spina bifida without hydrocephalus Q05.9                Spina bifida, unspecified  

 Q06 Other congenital malformations of spinal cord

Q06.0 Amyelia Q06.1 Hypoplasia and dysplasia of spinal cord Atelomyelia Myelatelia Myelodysplasia of spinal cord Q06.2 Diastematomyelia Q06.3 Other congenital cauda equina malformations Q06.4 Hydromyelia Hydrorachis Q06.8 Other specified congenital malformations of spinal cord Q06.9 Congenital malformation of spinal cord, unspecified Congenital:
  • anomaly
  • deformity
  • disease or lesion
} NOS of spinal cord or meninges    

 Q07 Other congenital malformations of nervous system

Excludes:     familial dysautonomia [Riley-Day] ( G90.1 ) neurofibromatosis (nonmalignant) ( Q85.0 ) Q07.0 Arnold-Chiari syndrome Q07.8 Other specified congenital malformations of nervous system Agenesis of nerve Displacement of brachial plexus Jaw-winking syndrome Marcus Gunn's syndrome Q07.9 Congenital malformation of nervous system, unspecified Congenital:
  • anomaly
  • deformity
  • disease or lesion
} NOS of nervous system  

Congenital malformations of eye, ear, face and neck (Q10-Q18)

Excludes: cleft lip and cleft palate ( Q35-Q37 ) congenital malformation of:

 Q10 Congenital malformations of eyelid, lacrimal apparatus and orbit

Excludes:      cryptophthalmos: Q10.0 Congenital ptosis Q10.1 Congenital ectropion Q10.2 Congenital entropion Q10.3 Other congenital malformations of eyelid Ablepharon Absence or agenesis of:
  • cilia
  • eyelid Accessory:
  • eyelid
  • eye muscle Blepharophimosis, congenital Coloboma of eyelid
Congenital malformation of eyelid NOS Q10.4 Absence and agenesis of lacrimal apparatus Absence of punctum lacrimale Q10.5 Congenital stenosis and stricture of lacrimal duct Q10.6 Other congenital malformations of lacrimal apparatus Congenital malformation of lacrimal apparatus NOS Q10.7 Congenital malformation of orbit  

 Q11 Anophthalmos, microphthalmos and macrophthalmos

Q11.0 Cystic eyeball Q11.1 Other anophthalmos   Agenesis Aplasia } of eye   Q11.2   Microphthalmos Cryptophthalmos NOS Dysplasia of eye Hypoplasia of eye Rudimentary eye Excludes: cryptophthalmos syndrome ( Q87.0 ) Q11.3 Macrophthalmos Excludes: macrophthalmos in congenital glaucoma ( Q15.0 )  

 Q12     Congenital lens malformations

Q12.0      Congenital cataract Q12.1          Congenital displaced lens Q12.2     Coloboma of lens Q12.3      Congenital aphakia Q12.4           Spherophakia Q12.8      Other congenital lens malformations Q12.9          Congenital lens malformation, unspecified

 Q13     Congenital malformations of anterior segment of eye

Q13.0      Coloboma of iris Coloboma NOS Q13.1      Absence of iris Aniridia Q13.2      Other congenital malformations of iris Anisocoria, congenital Atresia of pupil Congenital malformation of iris NOS Corectopia   Q13.3      Congenital corneal opacity Q13.4      Other congenital corneal malformations Congenital malformation of cornea NOS Microcornea Peter's anomaly Q13.5      Blue sclera Q13.8      Other congenital malformations of anterior segment of eye Rieger's anomaly Q13.9      Congenital malformation of anterior segment of eye, unspecified  

 Q14     Congenital malformations of posterior segment of eye

Q14.0      Congenital malformation of vitreous humour Congenital vitreous opacity Q14.1      Congenital malformation of retina Congenital retinal aneurysm Q14.2      Congenital malformation of optic disc Coloboma of optic disc Q14.3      Congenital malformation of choroid Q14.8      Other congenital malformations of posterior segment of eye Coloboma of the fundus Q14.9      Congenital malformation of posterior segment of eye, unspecified  

 Q15    Other congenital malformations of eye

Excludes: congenital nystagmus ( H55 ) ocular albinism ( E70.3 ) retinitis pigmentosa ( H35.5 ) Q15.0   Congenital glaucoma Buphthalmos Glaucoma of newborn Hydrophthalmos Keratoglobus, congenital, with glaucoma Macrocornea with glaucoma Macrophthalmos in congenital glaucoma Megalocornea with glaucoma   Q15.8   Other specified congenital malformations of eye Q15.9   Congenital malformation of eye, unspecified Congenital:  
  • anomaly
  • deformity
} NOS of eye    

 Q16 Congenital malformations of ear causing impairment of hearing

Excludes: congenital deafness ( H90.- ) Q16.0   Congenital absence of (ear) auricle Q16.1 Congenital absence, atresia and stricture of auditory canal (external) Atresia or stricture of osseous meatus Q16.2   Absence of eustachian tube Q16.3   Congenital malformation of ear ossicles Fusion of ear ossicles Q16.4   Other congenital malformations of middle ear Congenital malformation of middle ear NOS Q16.5   Congenital malformation of inner ear Anomaly:
  • membranous labyrinth
  • organ of Corti
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified Congenital absence of ear NOS  

 Q17   Other congenital malformations of ear

Excludes: preauricular sinus ( Q18.1 ) Q17.0   Accessory auricle Accessory tragus Polyotia Preauricular appendage or tag Supernumerary:
  • ear
  • lobule
  Q17.1 Macrotia Q17.2 Microtia Q17.3   Other misshapen ear Pointed ear Q17.4   Misplaced ear Low-set ears Excludes: cervical auricle ( Q18.2 ) Q17.5   Prominent ear Bat ear Q17.8   Other specified congenital malformations of ear Congenital absence of lobe of ear Q17.9   Congenital malformation of ear, unspecified Congenital anomaly of ear NOS

 Q18     Other congenital malformations of face and neck

Excludes: cleft lip and cleft palate ( Q35-Q37 ) conditions classified to Q67.0-Q67.4 congenital malformations of skull and face bones (Q75.- ) cyclopia ( Q87.0 ) dentofacial anomalies [including malocclusion] ( K07.- ) malformation syndromes affecting facial appearance ( Q87.0 ) persistent thyroglossal duct ( Q89.2 ) Q18.0      Sinus, fistula and cyst of branchial cleft Branchial vestige Q18.1      Preauricular sinus and cyst Fistula (of):
  • auricle, congenital
  • cervicoaural
Pretragal sinus and cyst Q18.2      Other branchial cleft malformations Branchial cleft malformation NOS Cervical auricle Otocephaly   Q18.3      Webbing of neck Pterygium colli Q18.4      Macrostomia Q18.5       Microstomia Q18.6      Macrocheilia Hypertrophy of lip, congenital Q18.7      Microcheilia Q18.8      Other specified congenital malformations of face and neck Medial:
  • cyst
  • fistula
  • sinus
of face and neck   Q18.9      Congenital malformation of face and neck, unspecified Congenital anomaly NOS of face and neck  

Congenital malformations of the circulatory system (Q20-Q28)

 Q20 Congenital malformations of cardiac chambers and connections

Excludes: dextrocardia with situs inversus ( Q89.3 ) mirror-image atrial arrangement with situs inversus (Q89.3 ) Q20.0   Common arterial trunk Persistent truncus arteriosus Q20.1   Double outlet right ventricle Taussig-Bing syndrome Q20.2   Double outlet left ventricle Q20.3   Discordant ventriculoarterial connection Dextrotransposition of aorta Transposition of great vessels (complete) Q20.4   Double inlet ventricle Common ventricle Cor triloculare biatriatum Single ventricle   Q20.5   Discordant atrioventricular connection Corrected transposition Laevotransposition Ventricular inversion Q20.6   Isomerism of atrial appendages Isomerism of atrial appendages with asplenia or polysplenia Q20.8 Other congenital malformations of cardiac chambers and connections Q20.9 Congenital malformation of cardiac chambers and connections, unspecified

 Q21   Congenital malformations of cardiac septa

Excludes:     acquired cardiac septal defect ( I51.0 ) Q21.0   Ventricular septal defect Q21.1   Atrial septal defect Coronary sinus defect Patent or persistent:
  • foramen ovale
  • ostium secundum defect (type II) Sinus venosus defect
Q21.2   Atrioventricular septal defect Common atrioventricular canal Endocardial cushion defect Ostium primum atrial septal defect (type I) Q21.3   Tetralogy of Fallot Ventricular septal defect with pulmonary stenosis or atresia, dextroposition of aorta and hypertrophy of right ventricle. Q21.4   Aortopulmonary septal defect Aortic septal defect Aortopulmonary window Q21.8   Other congenital malformations of cardiac septa Eisenmenger's defect Pentalogy of Fallot Excludes: Eisenmenger’s:
  • complex (8)
  • syndrome (8)
  Q21.9   Congenital malformation of cardiac septum, unspecified Septal (heart) defect NOS  

 Q22     Congenital malformations of pulmonary and tricuspid valves

Q22.0      Pulmonary valve atresia Q22.1      Congenital pulmonary valve stenosis Q22.2          Congenital pulmonary valve insufficiency Congenital pulmonary valve regurgitation Q22.3      Other congenital malformations of pulmonary valve Congenital malformation of pulmonary valve NOS Q22.4      Congenital tricuspid stenosis Tricuspid atresia Q22.5      Ebstein's anomaly Q22.6      Hypoplastic right heart syndrome Q22.8      Other congenital malformations of tricuspid valve Q22.9 Congenital malformation of tricuspid valve, unspecified

 Q23 Congenital malformations of aortic and mitral valves

Q23.0 Congenital stenosis of aortic valve Congenital aortic:
  • atresia
  • stenosis
Excludes: congenital subaortic stenosis ( Q24.4 ) that in hypoplastic left heart syndrome ( Q23.4 ) Q23.1 Congenital insufficiency of aortic valve Bicuspid aortic valve Congenital aortic insufficiency Q23.2 Congenital mitral stenosis Congenital mitral atresia Q23.3 Congenital mitral insufficiency   Q23.4   Hypoplastic left heart syndrome Atresia, or marked hypoplasia of aortic orifice or valve, with hypoplasia of ascending aorta and defective develop-ment of left ventricle (with mitral valve stenosis or atresia).
Q23.8   Other congenital malformations of aortic and mitral valves Q23.9 Congenital malformation of aortic and mitral valves, unspecified

 Q24 Other congenital malformations of heart

Excludes: endocardial fibroelastosis ( I42.4 ) Q24.0 Dextrocardia Excludes: dextrocardia with situs inversus ( Q89.3 ) isomerism of atrial appendages (with asplenia or polysplenia) ( Q20.6 ) mirror-image atrial arrangement with situs inversus(Q89.3) Q24.1    Laevocardia Note: Location of heart in left hemithorax with apex pointing to the left, but with situs inversus of other viscera and defects of the heart, or corrected transposition of great vessels. Q24.2    Cor triatriatum Q24.3    Pulmonary infundibular stenosis Q24.4  Congenital subaortic stenosis Q24.5    Malformation of coronary vessels Congenital coronary (artery) aneurysm Q24.6    Congenital heart block Q24.8    Other specified congenital malformations of heart Congenital:
  • diverticulum of left ventricle
  • malformation of:
    • myocardium
    • pericardium Malposition of heart Uhl's disease
Q24.9    Congenital malformation of heart, unspecified Congenital:
  • anomaly NOS of heart
  • disease

 Q25   Congenital malformations of great arteries

Q25.0   Patent ductus arteriosus Patent ductus Botallo Persistent ductus arteriosus Q25.1   Coarctation of aorta Coarctation of aorta (preductal)(postductal) Q25.2 Atresia of aorta Q25.3 Stenosis of aorta Supravalvular aortic stenosis Excludes: congenital aortic stenosis ( Q23.0 ) Q25.4   Other congenital malformations of aorta   Absence Aplasia Congenital:
  • aneurysm
  • dilatation
of aorta   Aneurysm of sinus of Valsalva (ruptured) Double aortic arch [vascular ring of aorta] Hypoplasia of aorta Persistent:
  • convolutions of aortic arch
  • right aortic arch
Excludes: hypoplasia of aorta in hypoplastic left heart syndrome ( Q23.4 ) Q25.5 Atresia of pulmonary artery Q25.6 Stenosis of pulmonary artery Supravalvular pulmonary stenosis Q25.7   Other congenital malformations of pulmonary artery Aberrant pulmonary artery Agenesis   Aneurysm, congenital Anomaly Hypoplasia of pulmonary artery   Pulmonary arteriovenous aneurysm   Q25.8    Other congenital malformations of great arteries Q25.9 Congenital malformation of great arteries, unspecified

 Q26     Congenital malformations of great veins

Q26.0      Congenital stenosis of vena cava Congenital stenosis of vena cava (inferior)(superior) Q26.1      Persistent left superior vena cava Q26.2      Total anomalous pulmonary venous connection Q26.3    Partial anomalous pulmonary venous connection Q26.4      Anomalous pulmonary venous connection, unspecified Q26.5        Anomalous portal venous connection Q26.6      Portal vein-hepatic artery fistula Q26.8      Other congenital malformations of great veins Absence of vena cava (inferior)(superior) Azygos continuation of inferior vena cava Persistent left posterior cardinal vein Scimitar syndrome Q26.9      Congenital malformation of great vein, unspecified Anomaly of vena cava (inferior)(superior) NOS  

 Q27    Other congenital malformations of peripheral vascular system

Excludes:     anomalies of:
  • cerebral and precerebral vessels ( 0-Q28.3 )
  • coronary vessels ( 5 )
  • pulmonary artery ( 5-Q25.7 ) congenital retinal aneurysm ( Q14.1 ) haemangioma and lymphangioma ( D18.- )
Q27.0   Congenital absence and hypoplasia of umbilical artery Single umbilical artery Q27.1   Congenital renal artery stenosis   Q27.2   Other congenital malformations of renal artery Congenital malformation of renal artery NOS Multiple renal arteries Q27.3   Peripheral arteriovenous malformation Arteriovenous aneurysm Excludes: acquired arteriovenous aneurysm ( I77.0 ) Q27.4   Congenital phlebectasia Q27.8 Other specified congenital malformations of peripheral vascular system Aberrant subclavian artery   Absence Atresia } of artery or vein NEC   Congenital:
  • aneurysm (peripheral)
  • stricture, artery
  • varix
Q27.9 Congenital malformation of peripheral vascular system, unspecified Anomaly of artery or vein NOS

 Q28    Other congenital malformations of circulatory system

Excludes: congenital aneurysm:
  • NOS ( Q27.8 )
    • coronary ( 5 )
    • peripheral ( 8 )
    • pulmonary ( 7 )
    • retinal ( 1 )
  • cerebral arteriovenous malformation ( 8 )
  • malformation of precerebral vessels ( - )
Q28.0     Arteriovenous malformation of precerebral vessels Congenital arteriovenous precerebral aneurysm (nonruptured)   Q28.1     Other malformations of precerebral vessels Congenital:
  • malformation of precerebral vessels NOS
  • precerebral aneurysm (nonruptured)
Q28.2     Arteriovenous malformation of cerebral vessels Arteriovenous malformation of brain NOS Congenital arteriovenous cerebral aneurysm (nonruptured) Q28.3     Other malformations of cerebral vessels Congenital:
  • cerebral aneurysm (nonruptured)
  • malformation of cerebral vessels NOS
Q28.8     Other specified congenital malformations of circulatory system Congenital aneurysm, specified site NEC Q28.9     Congenital malformation of circulatory system, unspecified  

Congenital malformations of the respiratory system (Q30-Q34)

 Q30   Congenital malformations of nose

Excludes: congenital deviation of nasal septum ( Q67.4 ) Q30.0   Choanal atresia   Atresia Congenital stenosis } of nares (anterior)(posterior)   Q30.1   Agenesis and underdevelopment of nose Congenital absence of nose Q30.2 Fissured, notched and cleft nose Q30.3 Congenital perforated nasal septum Q30.8   Other congenital malformations of nose Accessory nose Congenital anomaly of nasal sinus wall Q30.9   Congenital malformation of nose, unspecified  

 Q31    Congenital malformations of larynx

Excludes: congenital (laryngeal) stridor NOS ( P28.8 ) Q31.0   Web of larynx Web of larynx:
  • NOS
  • glottic
  • subglottic
Q31.1 Congenital subglottic stenosis Q31.2 Laryngeal hypoplasia Q31.3   Laryngocele Q31.5   Congenital laryngomalacia Q31.8   Other congenital malformations of larynx   Absence Agenesis Atresia of cricoid cartilage, epiglottis, glottis, larynx or thyroid cartilage   Cleft thyroid cartilage Congenital stenosis of larynx NEC Fissure of epiglottis Posterior cleft of cricoid cartilage Q31.9   Congenital malformation of larynx, unspecified  

 Q32   Congenital malformations of trachea and bronchus

Excludes: congenital bronchiectasis ( Q33.4 ) Q32.0   Congenital tracheomalacia Q32.1   Other congenital malformations of trachea Anomaly of tracheal cartilage Atresia of trachea Congenital:
  • dilatation
  • malformation
  • stenosis
  • tracheocele
of trachea   Q32.2   Congenital bronchomalacia   Q32.3   Congenital stenosis of bronchus Q32.4   Other congenital malformations of bronchus Absence Agenesis   Atresia Congenital malformation NOS Diverticulum of bronchus    

 Q33     Congenital malformations of lung

Q33.0      Congenital cystic lung Congenital:
  • honeycomb lung
  • lung disease:
    • cystic
    • polycystic
Excludes: cystic lung disease, acquired or unspecified ( J98.4 ) Q33.1      Accessory lobe of lung Q33.2   Sequestration of lung Q33.3      Agenesis of lung Absence of lung (lobe) Q33.4    Congenital bronchiectasis Q33.5    Ectopic tissue in lung Q33.6      Hypoplasia and dysplasia of lung Excludes:      pulmonary hypoplasia associated with short gestation ( P28.0 ) Q33.8      Other congenital malformations of lung Q33.9 Congenital malformation of lung, unspecified

 Q34     Other congenital malformations of respiratory system

Q34.0      Anomaly of pleura Q34.1      Congenital cyst of mediastinum Q34.8      Other specified congenital malformations of respiratory system Atresia of nasopharynx   Q34.9      Congenital malformation of respiratory system, unspecified Congenital:  
  • absence
  • anomaly NOS
} of respiratory organ    

Cleft lip and cleft palate (Q35-Q37)

Use additional code (Q30.2), if desired, to identify associated malformations of the nose Excludes: Robin's syndrome ( Q87.0 )  

 Q35   Cleft palate

Includes:      fissure of palate palatoschisis Excludes:     cleft palate with cleft lip ( Q37.- ) Q35.1 Cleft hard palate Q35.3 Cleft soft palate Q35.5 Cleft hard palate with cleft soft palate Q35.7 Cleft uvula Q35.9   Cleft palate, unspecified  

 Q36   Cleft lip

Includes:      cheiloschisis congenital fissure of lip harelip labium leporinum Excludes:     cleft lip with cleft palate ( Q37.- ) Q36.0   Cleft lip, bilateral Q36.1 Cleft lip, median Q36.9 Cleft lip, unilateral Cleft lip NOS  

 Q37     Cleft palate with cleft lip

  Q37.0      Cleft hard palate with bilateral cleft lip Q37.1      Cleft hard palate with unilateral cleft lip Cleft hard palate with cleft lip NOS Q37.2              Cleft soft palate with bilateral cleft lip Q37.3                 Cleft soft palate with unilateral cleft lip Cleft soft palate with cleft lip NOS Q37.4      Cleft hard and soft palate with bilateral cleft lip Q37.5      Cleft hard and soft palate with unilateral cleft lip Cleft hard and soft palate with cleft lip NOS Q37.8      Unspecified cleft palate with bilateral cleft lip Q37.9      Unspecified cleft palate with unilateral cleft lip Cleft palate with cleft lip NOS  

Other congenital malformations of the digestive system


 Q38 Other congenital malformations of tongue, mouth and pharynx

Excludes:     macrostomia ( Q18.4 ) microstomia ( Q18.5 ) Q38.0   Congenital malformations of lips, not elsewhere classified Congenital:
  • fistula of lip
  • malformation of lip NOS Van der Woude's syndrome
Excludes:     cleft lip ( Q36.- )
  • with cleft palate ( Q37.- ) macrocheilia ( Q18.6 ) microcheilia ( Q18.7 )
Q38.1   Ankyloglossia Tongue tie Q38.2   Macroglossia   Q38.3   Other congenital malformations of tongue Aglossia Bifid tongue Congenital:
  • adhesion
  • fissure
  • malformation NOS
Hypoglossia Hypoplasia of tongue Microglossia of tongue   Q38.4   Congenital malformations of salivary glands and ducts Absence   Accessory Atresia (of) salivary gland or duct   Congenital fistula of salivary gland Q38.5   Congenital malformations of palate, not elsewhere classified Absence of uvula Congenital malformation of palate NOS High arched palate Excludes:       cleft palate ( Q35.- )
  • with cleft lip ( - )
Q38.6   Other congenital malformations of mouth Congenital malformation of mouth NOS Q38.7   Pharyngeal pouch Diverticulum of pharynx Excludes:       pharyngeal pouch syndrome ( D82.1 ) Q38.8   Other congenital malformations of pharynx Congenital malformation of pharynx NOS

 Q39 Congenital malformations of oesophagus

Q39.0 Atresia of oesophagus without fistula Atresia of oesophagus NOS Q39.1 Atresia of oesophagus with tracheo-oesophageal fistula Atresia of oesophagus with broncho-oesophageal fistula   Q39.2 Congenital tracheo-oesophageal fistula without atresia Congenital tracheo-oesophageal fistula NOS Q39.3 Congenital stenosis and stricture of oesophagus Q39.4 Oesophageal web Q39.5 Congenital dilatation of oesophagus Q39.6 Diverticulum of oesophagus Oesophageal pouch Q39.8 Other congenital malformations of oesophagus Absent   Congenital displacement Duplication (of) oesophagus   Q39.9 Congenital malformation of oesophagus, unspecified

 Q40    Other congenital malformations of upper alimentary

tract Q40.0   Congenital hypertrophic pyloric stenosis Congenital or infantile:
  • constriction
  • hypertrophy
  • spasm
  • stenosis
  • stricture
of pylorus   Q40.1   Congenital hiatus hernia Displacement of cardia through oesophageal hiatus Excludes: congenital diaphragmatic hernia ( Q79.0 ) Q40.2   Other specified congenital malformations of stomach Congenital:
  • displacement of stomach
  • diverticulum of stomach
  • hourglass stomach Duplication of stomach Megalogastria Microgastria
Q40.3   Congenital malformation of stomach, unspecified   Q40.8 Other specified congenital malformations of upper alimentary tract Q40.9   Congenital malformation of upper alimentary tract, unspecified Congenital:  
  • anomaly
  • deformity
} NOS of upper alimentary tract    

 Q41 Congenital absence, atresia and stenosis of small intestine

Includes: congenital obstruction, occlusion and stricture of small intestine or intestine NOS Excludes: meconium ileus ( E84.1 ) Q41.0 Congenital absence, atresia and stenosis of duodenum Q41.1 Congenital absence, atresia and stenosis of jejunum Apple peel syndrome Imperforate jejunum Q41.2      Congenital absence, atresia and stenosis of ileum Q41.8      Congenital absence, atresia and stenosis of other specified parts of small intestine Q41.9      Congenital absence, atresia and stenosis of small intestine, part unspecified Congenital absence, atresia and stenosis of intestine NOS  

 Q42    Congenital absence, atresia and stenosis of large intestine

Includes: congenital obstruction, occlusion and stricture of large intestine Q42.0 Congenital absence, atresia and stenosis of rectum with fistula Q42.1 Congenital absence, atresia and stenosis of rectum without fistula Imperforate rectum Q42.2 Congenital absence, atresia and stenosis of anus with fistula Q42.3 Congenital absence, atresia and stenosis of anus without fistula Imperforate anus   Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified

 Q43    Other congenital malformations of intestine

Q43.0     Meckel's diverticulum Persistent:
  • omphalomesenteric duct
  • vitelline duct
Q43.1     Hirschsprung's disease Aganglionosis Congenital (aganglionic) megacolon Q43.2     Other congenital functional disorders of colon Congenital dilatation of colon Q43.3     Congenital malformations of intestinal fixation Congenital adhesions [bands]:
  • omental, anomalous
  • peritoneal Jackson's membrane Malrotation of colon Rotation:
  • failure of
  • incomplete
  • insufficient
of caecum and colon   Universal mesentery Q43.4         Duplication of intestine Q43.5         Ectopic anus Q43.6     Congenital fistula of rectum and anus Excludes: congenital fistula:
  • rectovaginal ( 2 )
  • urethrorectal ( 7 )
pilonidal fistula or sinus ( L05.- ) with absence, atresia and stenosis ( Q42.0 , Q42.2 ) Q43.7     Persistent cloaca Cloaca NOS   Q43.8      Other specified congenital malformations of intestine Congenital:
  • blind loop syndrome
  • diverticulitis, colon
  • diverticulum, intestine Dolichocolon Megaloappendix Megaloduodenum Microcolon Transposition of:
  • appendix
  • colon
  • intestine
Q43.9      Congenital malformation of intestine, unspecified

 Q44      Congenital malformations of gallbladder, bile ducts

and liver Q44.0       Agenesis, aplasia and hypoplasia of gallbladder Congenital absence of gallbladder Q44.1       Other congenital malformations of gallbladder Congenital malformation of gallbladder NOS Intrahepatic gallbladder Q44.2       Atresia of bile ducts Q44.3       Congenital stenosis and stricture of bile ducts Q44.4          Choledochal cyst Q44.5       Other congenital malformations of bile ducts Accessory hepatic duct Congenital malformation of bile duct NOS Duplication:
  • biliary duct
  • cystic duct
Q44.6       Cystic disease of liver Fibrocystic disease of liver   Q44.7      Other congenital malformations of liver Accessory liver Alagille's syndrome Congenital:
  • absence of liver
  • hepatomegaly
  • malformation of liver NOS

 Q45     Other congenital malformations of digestive system

Excludes: congenital: Q45.0      Agenesis, aplasia and hypoplasia of pancreas Congenital absence of pancreas Q45.1      Annular pancreas Q45.2      Congenital pancreatic cyst Q45.3      Other congenital malformations of pancreas and pancreatic duct Accessory pancreas Congenital malformation of pancreas or pancreatic duct NOS Excludes: diabetes mellitus:
  • congenital ( E10.- )
  • neonatal ( P70.2 )
fibrocystic disease of pancreas ( E84.- ) Q45.8      Other specified congenital malformations of digestive system Absence (complete)(partial) of alimentary tract NOS   Duplication Malposition, congenital } of digestive organs NOS   Q45.9      Congenital malformation of digestive system, unspecified Congenital:  
  • anomaly
  • deformity
} NOS of digestive system  

Congenital malformations of genital organs (Q50-Q56)

Excludes: androgen resistance syndrome ( E34.5 ) syndromes associated with anomalies in the number and form of chromosomes ( Q90-Q99 ) testicular feminization syndrome ( E34.5 )  

 Q50 Congenital malformations of ovaries, fallopian tubes and broad ligaments

Q50.0     Congenital absence of ovary Excludes:       Turner's syndrome ( Q96.- ) Q50.1     Developmental ovarian cyst Q50.2             Congenital torsion of ovary Q50.3     Other congenital malformations of ovary Accessory ovary Congenital malformation of ovary NOS Ovarian streak Q50.4     Embryonic cyst of fallopian tube Fimbrial cyst Q50.5     Embryonic cyst of broad ligament Cyst:
  • epoophoron
  • Gartner's duct
  • parovarian
Q50.6     Other congenital malformations of fallopian tube and broad ligament Absence   Accessory Atresia (of) fallopian tube or broad ligament   Congenital malformation of fallopian tube or broad ligament NOS  

 Q51     Congenital malformations of uterus and cervix

Q51.0     Agenesis and aplasia of uterus Congenital absence of uterus   Q51.1     Doubling of uterus with doubling of cervix and vagina Q51.2     Other doubling of uterus Doubling of uterus NOS Q51.3     Bicornate uterus Q51.4              Unicornate uterus Q51.5     Agenesis and aplasia of cervix Congenital absence of cervix Q51.6     Embryonic cyst of cervix Q51.7     Congenital fistulae between uterus and digestive and urinary tracts Q51.8     Other congenital malformations of uterus and cervix Hypoplasia of uterus and cervix Q51.9     Congenital malformation of uterus and cervix, unspecified

 Q52   Other congenital malformations of female genitalia

Q52.0     Congenital absence of vagina Q52.1     Doubling of vagina Septate vagina Excludes:      doubling of vagina with doubling of uterus and cervix ( Q51.1 ) Q52.2     Congenital rectovaginal fistula Excludes:      cloaca ( Q43.7 ) Q52.3     Imperforate hymen Q52.4     Other congenital malformations of vagina Congenital malformation of vagina NOS Cyst:
  • canal of Nuck, congenital
  • embryonic vaginal
Q52.5     Fusion of labia Q52.6     Congenital malformation of clitoris   Q52.7     Other congenital malformations of vulva Congenital:
  • absence
  • cyst
  • malformation NOS
of vulva   Q52.8     Other specified congenital malformations of female genitalia Q52.9              Congenital malformation of female genitalia, unspecified

 Q53      Undescended testicle

Q53.0       Ectopic testis Unilateral or bilateral ectopic testes Q53.1                Undescended testicle, unilateral Q53.2                   Undescended testicle, bilateral Q53.9     Undescended testicle, unspecified Cryptorchism NOS  

 Q54    Hypospadias

Excludes: epispadias ( Q64.0 ) Q54.0     Hypospadias, balanic Hypospadias:
  • coronal
  • glandular
Q54.1     Hypospadias, penile Q54.2           Hypospadias, penoscrotal Q54.3                Hypospadias, perineal Q54.4      Congenital chordee Q54.8              Other hypospadias Q54.9     Hypospadias, unspecified  

 Q55      Other congenital malformations of male genital organs

Excludes: congenital hydrocele ( P83.5 ) hypospadias ( Q54.- ) Q55.0        Absence and aplasia of testis Monorchism   Q55.1       Hypoplasia of testis and scrotum Fusion of testes Q55.2       Other congenital malformations of testis and scrotum Congenital malformation of testis or scrotum NOS Polyorchism Retractile testis Testis migrans Q55.3       Atresia of vas deferens Q55.4       Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate Absence or aplasia of:
  • prostate
  • spermatic cord
Congenital malformation of vas deferens, epididymis, seminal vesicles or prostate NOS Q55.5       Congenital absence and aplasia of penis Q55.6 Other congenital malformations of penis Congenital malformation of penis NOS Curvature of penis (lateral) Hypoplasia of penis Q55.8       Other specified congenital malformations of male genital organs Q55.9  Congenital malformation of male genital organ, unspecified Congenital:  
  • anomaly
  • deformity
} NOS of male genital organ    

 Q56       Indeterminate sex and pseudohermaphroditism

Excludes: pseudohermaphroditism:
  • female, with adrenocortical disorder ( - )
  • male, with androgen resistance ( 5 )
  • with specified chromosomal anomaly ( Q96-Q99 )
Q56.0         Hermaphroditism, not elsewhere classified Ovotestis Q56.1         Male pseudohermaphroditism, not elsewhere classified Male pseudohermaphroditism NOS   Q56.2         Female pseudohermaphroditism, not elsewhere classified Female pseudohermaphroditism NOS Q56.3         Pseudohermaphroditism, unspecified Q56.4         Indeterminate sex, unspecified Ambiguous genitalia  

Congenital malformations of the urinary system (Q60-Q64)

 Q60    Renal agenesis and other reduction defects of kidney

Includes:      atrophy of kidney:
  • congenital
  • infantile
congenital absence of kidney Q60.0      Renal agenesis, unilateral Q60.1               Renal agenesis, bilateral Q60.2      Renal agenesis, unspecified Q60.3          Renal hypoplasia, unilateral Q60.4              Renal hypoplasia, bilateral Q60.5          Renal hypoplasia, unspecified Q60.6             Potter's syndrome

 Q61   Cystic kidney disease

Excludes: acquired cyst of kidney ( N28.1 ) Potter's syndrome ( Q60.6 ) Q61.0   Congenital single renal cyst Cyst of kidney (congenital)(single) Q61.1   Polycystic kidney, autosomal recessive Polycystic kidney, infantile type Q61.2   Polycystic kidney, autosomal dominant Polycystic kidney, adult type Q61.3   Polycystic kidney, unspecified   Q61.4   Renal dysplasia Multicystic:
  • dyplastic kidney
  • kidney (developmental)
  • kidney disease
  • renal dysplasia
Excludes: polycystic kidney disease (Q61.1-Q6 1.3) Q61.5   Medullary cystic kidney Sponge kidney NOS Q61.8   Other cystic kidney diseases Fibrocystic:
  • kidney
  • renal degeneration or disease
Q61.9   Cystic kidney disease, unspecified Meckel-Gruber syndrome

 Q62    Congenital obstructive defects of renal pelvis and congenital malformations of ureter

Q62.0     Congenital hydronephrosis Q62.1     Atresia and stenosis of ureter Congenital occlusion of:
  • ureter
  • ureteropelvic junction
  • ureterovesical orifice Impervious ureter
Q62.2     Congenital megaloureter Congenital dilatation of ureter Q62.3     Other obstructive defects of renal pelvis and ureter Congenital ureterocele Q62.4     Agenesis of ureter Absent ureter Q62.5     Duplication of ureter   Accessory Double } ureter   Q62.6     Malposition of ureter Deviation Displacement Ectopic Implantation, anomalous   (of) ureter or ureteric orifice   Q62.7     Congenital vesico-uretero-renal reflux Q62.8       Other congenital malformations of ureter Anomaly of ureter NOS

 Q63   Other congenital malformations of kidney

Excludes: congenital nephrotic syndrome ( N04.- ) Q63.0     Accessory kidney Q63.1     Lobulated, fused and horseshoe kidney Q63.2         Ectopic kidney Congenital displaced kidney Malrotation of kidney Q63.3     Hyperplastic and giant kidney Q63.8     Other specified congenital malformations of kidney Congenital renal calculi Q63.9     Congenital malformation of kidney, unspecified

 Q64      Other congenital malformations of urinary system

Q64.0       Epispadias Excludes:        hypospadias ( Q54.- ) Q64.1       Exstrophy of urinary bladder Ectopia vesicae Extroversion of bladder Q64.2       Congenital posterior urethral valves Q64.3       Other atresia and stenosis of urethra and bladder neck Congenital:
  • bladder neck obstruction
  • stricture of:
  • urethra
  • urinary meatus
  • vesicourethral orifice Impervious urethra
  Q64.4       Malformation of urachus Cyst of urachus Patent urachus Prolapse of urachus Q64.5       Congenital absence of bladder and urethra Q64.6            Congenital diverticulum of bladder Q64.7       Other congenital malformations of bladder and urethra Accessory:
  • bladder
  • urethra Congenital:
  • hernia of bladder
  • malformation of bladder or urethra NOS
  • prolapse of:
  • bladder (mucosa)
  • urethra
  • urinary meatus
  • urethrorectal fistula Double:
  • urethra
  • urinary meatus
Q64.8       Other specified congenital malformations of urinary system Q64.9            Congenital malformation of urinary system, unspecified Congenital:  
  • anomaly
  • deformity
} NOS of urinary system    

Congenital malformations and deformations of the musculoskeletal system


 Q65   Congenital deformities of hip

Excludes: clicking hip ( R29.4 ) Q65.0 Congenital dislocation of hip, unilateral Q65.1 Congenital dislocation of hip, bilateral Q65.2 Congenital dislocation of hip, unspecified   Q65.3 Congenital subluxation of hip, unilateral Q65.4 Congenital subluxation of hip, bilateral Q65.5 Congenital subluxation of hip, unspecified Q65.6 Unstable hip Dislocatable hip Subluxatable hip Q65.8   Other congenital deformities of hip Anteversion of femoral neck Congenital acetabular dysplasia Congenital coxa:
  • valga
  • vara
Q65.9   Congenital deformity of hip, unspecified

 Q66 Congenital deformities of feet

Excludes: reduction defects of feet ( Q72.- ) valgus deformities (acquired) ( M21.0 ) varus deformities (acquired) ( M21.1 ) Q66.0 Talipes equinovarus Q66.1 Talipes calcaneovarus Q66.2 Metatarsus varus Q66.3 Other congenital varus deformities of feet Hallux varus, congenital Q66.4 Talipes calcaneovalgus Q66.5 Congenital pes planus Flat foot:
  • congenital
  • rigid
  • spastic (everted)
Q66.6 Other congenital valgus deformities of feet Metatarsus valgus Q66.7 Pes cavus   Q66.8     Other congenital deformities of feet Clubfoot NOS Hammer toe, congenital Talipes:
  • NOS
  • asymmetric Tarsal coalition Vertical talus
Q66.9     Congenital deformity of feet, unspecified

 Q67 Congenital musculoskeletal deformities of head, face, spine and chest

Excludes:        congenital malformation syndromes classified to Q87.- Potter's syndrome ( Q60.6 ) Q67.0     Facial asymmetry Q67.1            Compression facies Q67.2                Dolichocephaly Q67.3 Plagiocephaly Q67.4     Other congenital deformities of skull, face and jaw Depressions in skull Deviation of nasal septum, congenital Hemifacial atrophy or hypertrophy Squashed or bent nose, congenital Excludes: dentofacial anomalies [including malocclusion] ( K07.- ) syphilitic saddle nose ( A50.5 ) Q67.5     Congenital deformity of spine Congenital scoliosis:
  • NOS
  • postural
Excludes: infantile idiopathic scoliosis ( M41.0 ) scoliosis due to congenital bony malformation ( Q76.3 ) Q67.6     Pectus excavatum Congenital funnel chest Q67.7     Pectus carinatum Congenital pigeon chest   Q67.8     Other congenital deformities of chest Congenital deformity of chest wall NOS  

 Q68    Other congenital musculoskeletal deformities

Excludes:      reduction defects of limb(s) ( Q71-Q73 ) Q68.0     Congenital deformity of sternocleidomastoid muscle Congenital (sternomastoid) torticollis Contracture of sternocleidomastoid (muscle) Sternomastoid tumour (congenital) Q68.1     Congenital deformity of hand Congenital clubfinger Spade-like hand (congenital) Q68.2     Congenital deformity of knee Congenital:
  • dislocation of knee
  • genu recurvatum
Q68.3     Congenital bowing of femur Excludes: anteversion of femur (neck) ( Q65.8 ) Q68.4     Congenital bowing of tibia and fibula Q68.5     Congenital bowing of long bones of leg, unspecified Q68.8                Other specified congenital musculoskeletal deformities Congenital:
  • deformity of:
    • clavicle
    • elbow
    • forearm
    • scapula
  • dislocation of:
    • elbow
    • shoulder

 Q69       Polydactyly

Q69.0        Accessory finger(s) Q69.1         Accessory thumb(s)   Q69.2      Accessory toe(s) Accessory hallux Q69.9      Polydactyly, unspecified Supernumerary digit(s) NOS  

 Q70     Syndactyly

Q70.0      Fused fingers Complex syndactyly of fingers with synostosis Q70.1      Webbed fingers Simple syndactyly of fingers without synostosis Q70.2      Fused toes Complex syndactyly of toes with synostosis Q70.3      Webbed toes Simple syndactyly of toes without synostosis Q70.4      Polysyndactyly Q70.9      Syndactyly, unspecified Symphalangy NOS  

 Q71      Reduction defects of upper limb

Q71.0        Congenital complete absence of upper limb(s) Q71.1        Congenital absence of upper arm and forearm with hand present Q71.2   Congenital absence of both forearm and hand Q71.3        Congenital absence of hand and finger(s) Q71.4               Longitudinal reduction defect of radius Clubhand (congenital) Radial clubhand Q71.5        Longitudinal reduction defect of ulna Q71.6      Lobster-claw hand Q71.8        Other reduction defects of upper limb(s) Congenital shortening of upper limb(s) Q71.9        Reduction defect of upper limb, unspecified  

 Q72      Reduction defects of lower limb

Q72.0       Congenital complete absence of lower limb(s) Q72.1       Congenital absence of thigh and lower leg with foot present Q72.2                Congenital absence of both lower leg and foot Q72.3       Congenital absence of foot and toe(s) Q72.4       Longitudinal reduction defect of femur Proximal femoral focal deficiency Q72.5       Longitudinal reduction defect of tibia Q72.6       Longitudinal reduction defect of fibula Q72.7       Split foot Q72.8       Other reduction defects of lower limb(s) Congenital shortening of lower limb(s) Q72.9       Reduction defect of lower limb, unspecified  

 Q73      Reduction defects of unspecified limb

Q73.0       Congenital absence of unspecified limb(s) Amelia NOS Q73.1       Phocomelia, unspecified limb(s) Phocomelia NOS Q73.8       Other reduction defects of unspecified limb(s) Longitudinal reduction deformity of unspecified limb(s) Ectromelia NOS   Hemimelia NOS Reduction defect of limb(s) NOS    

 Q74   Other congenital malformations of limb(s)

Excludes: polydactyly ( Q69.- ) reduction defect of limb ( Q71-Q73 ) syndactyly ( Q70.- )   Q74.0     Other congenital malformations of upper limb(s), including shoulder girdle Accessory carpal bones Cleidocranial dysostosis Congenital pseudarthrosis of clavicle Macrodactylia (fingers) Madelung's deformity Radioulnar synostosis Sprengel's deformity Triphalangeal thumb Q74.1     Congenital malformation of knee Congenital:
  • absence of patella
  • dislocation of patella
  • genu:
    • valgum
    • varum Rudimentary patella
Excludes:       congenital:
  • dislocation of knee ( 2 )
  • genu recurvatum ( 2 ) nail patella syndrome ( Q87.2 )
Q74.2     Other congenital malformations of lower limb(s), including pelvic girdle Congenital:
  • fusion of sacroiliac joint
  • malformation (of):
    • ankle (joint)
    • sacroiliac (joint)
Excludes: anteversion of femur (neck) ( Q65.8 ) Q74.3     Arthrogryposis multiplex congenita Q74.8     Other specified congenital malformations of limb(s) Q74.9             Unspecified congenital malformation of limb(s) Congenital anomaly of limb(s) NOS    

 Q75       Other congenital malformations of skull and face bones

Excludes: congenital malformation of face NOS ( Q18.- ) congenital malformation syndromes classified to Q87.- dentofacial anomalies [including malocclusion] ( K07.- ) musculoskeletal deformities of head and face ( Q67.0-Q67.4 ) skull defects associated with congenital anomalies of brain such as:
  • anencephaly ( 0 )
  • encephalocele ( - )
  • hydrocephalus ( - )
  • microcephaly ( Q02 )
Q75.0        Craniosynostosis Acrocephaly Imperfect fusion of skull Oxycephaly Trigonocephaly Q75.1        Craniofacial dysostosis Crouzon's disease Q75.2        Hypertelorism Q75.3  Macrocephaly Q75.4        Mandibulofacial dysostosis Syndrome:
  • Franceschetti
  • Treacher-Collins
Q75.5        Oculomandibular dysostosis Q75.8        Other specified congenital malformations of skull and face bones Absence of skull bone, congenital Congenital deformity of forehead Platybasia Q75.9       Congenital malformation of skull and face bones, unspecified Congenital anomaly of:
  • face bones NOS
  • skull NOS

 Q76 Congenital malformations of spine and bony thorax

Excludes:         congenital musculoskeletal deformities of spine and chest ( Q67.5-Q67.8 ) Q76.0   Spina bifida occulta Excludes:         meningocele (spinal) ( Q05.- ) spina bifida (aperta)(cystica) ( Q05.- ) Q76.1   Klippel-Feil syndrome Cervical fusion syndrome Q76.2   Congenital spondylolisthesis Congenital spondylolysis Excludes:         spondylolisthesis (acquired) ( M43.1 ) spondylolysis (acquired) ( M43.0 ) Q76.3   Congenital scoliosis due to congenital bony malformation Hemivertebra fusion or failure of segmentation with scoliosis Q76.4 Other congenital malformations of spine, not associated with scoliosis Congenital:
  • absence of vertebra
  • fusion of spine
  • kyphosis
  • lordosis
  • malformation of lumbosacral (joint) (region) Hemivertebra
Malformation of spine Platyspondylisis Supernumerary vertebra Q76.5   Cervical rib Supernumerary rib in cervical region Q76.6   Other congenital malformations of ribs Accessory rib Congenital:
  • absence of rib
  • fusion of ribs
  • malformation of ribs NOS
Excludes: short rib syndrome ( Q77.2 ) unspecified or not associated with scoliosis   Q76.7   Congenital malformation of sternum Congenital absence of sternum Sternum bifidum Q76.8    Other congenital malformations of bony thorax Q76.9 Congenital malformation of bony thorax, unspecified

 Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine

Excludes: mucopolysaccharidosis ( E76.0-E76.3 ) Q77.0     Achondrogenesis Hypochondrogenesis Q77.1     Thanatophoric short stature Q77.2            Short rib syndrome Asphyxiating thoracic dysplasia [Jeune] Q77.3     Chondrodysplasia punctata Q77.4             Achondroplasia Hypochondroplasia Osteosclerosis congenita Q77.5     Dystrophic dysplasia Q77.6     Chondroectodermal dysplasia Ellis-van Creveld syndrome Q77.7     Spondyloepiphyseal dysplasia Q77.8     Other osteochondrodysplasia with defects of growth of tubular bones and spine Q77.9     Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified  

 Q78    Other osteochondrodysplasias

Q78.0     Osteogenesis imperfecta Fragilitas ossium Osteopsathyrosis   Q78.1      Polyostotic fibrous dysplasia Albright(-McCune)(-Sternberg) syndrome Q78.2      Osteopetrosis Albers-Schönberg syndrome Q78.3      Progressive diaphyseal dysplasia Camurati-Engelmann syndrome Q78.4      Enchondromatosis Maffucci's syndrome Ollier's disease Q78.5      Metaphyseal dysplasia Pyle's syndrome Q78.6      Multiple congenital exostoses Diaphyseal aclasis Q78.8      Other specified osteochondrodysplasias Osteopoikilosis Q78.9      Osteochondrodysplasia, unspecified Chondrodystrophy NOS Osteodystrophy NOS

 Q79    Congenital malformations of the musculoskeletal

system, not elsewhere classified Excludes:       congenital (sternomastoid) torticollis ( Q68.0 ) Q79.0     Congenital diaphragmatic hernia Excludes:           congenital hiatus hernia ( Q40.1 ) Q79.1     Other congenital malformations of diaphragm Absence of diaphragm Congenital malformation of diaphragm NOS Eventration of diaphragm Q79.2     Exomphalos Omphalocele Excludes:       umbilical hernia ( K42.- ) Q79.3     Gastroschisis   Q79.4     Prune belly syndrome Q79.5     Other congenital malformations of abdominal wall Excludes:       umbilical hernia ( K42.- ) Q79.6     Ehlers-Danlos syndrome Q79.8       Other congenital malformations of musculoskeletal system Absence of:
  • muscle
  • tendon Accessory muscle
Amyotrophia congenita Congenital:
  • constricting bands
  • shortening of tendon Poland's syndrome
Q79.9       Congenital malformation of musculoskeletal system, unspecified Congenital:  
  • anomaly NOS
  • deformity NOS
} of musculoskeletal system NOS    

Other congenital malformations (Q80-Q89)

 Q80   Congenital ichthyosis

Excludes: Refsum's disease ( G60.1 ) Q80.0 Ichthyosis vulgaris Q80.1 X-linked ichthyosis Q80.2   Lamellar ichthyosis Collodion baby Q80.3 Congenital bullous ichthyosiform erythroderma Q80.4 Harlequin fetus Q80.8   Other congenital ichthyosis Q80.9   Congenital ichthyosis, unspecified  

 Q81   Epidermolysis bullosa

Q81.0   Epidermolysis bullosa simplex Excludes: Cockayne's syndrome ( Q87.1 ) Q81.1   Epidermolysis bullosa letalis Herlitz' syndrome Q81.2 Epidermolysis bullosa dystrophica Q81.8   Other epidermolysis bullosa Q81.9 Epidermolysis bullosa, unspecified  

 Q82    Other congenital malformations of skin

Excludes: acrodermatitis enteropathica ( E83.2 ) congenital erythropoietic porphyria ( E80.0 ) pilonidal cyst or sinus ( L05.- ) Sturge-Weber(-Dimitri) syndrome ( Q85.8 ) Q82.0     Hereditary lymphoedema Q82.1              Xeroderma pigmentosum Q82.2     Mastocytosis Urticaria pigmentosa Excludes: malignant mastocytosis ( C96.2 ) Q82.3     Incontinentia pigmenti Q82.4     Ectodermal dysplasia (anhidrotic) Excludes: Ellis-van Creveld syndrome ( Q77.6 ) Q82.5     Congenital non-neoplastic naevus Birthmark NOS Naevus:
  • flammeus
  • portwine
  • sanguineous
  • strawberry
  • vascular NOS
  • verrucous
  Excludes:        café au lait spots ( L81.3 ) lentigo ( L81.4 ) naevus:
  • NOS ( D22.- )
    • araneus ( 1 )
    • melanocytic ( - )
    • pigmented ( - )
    • spider ( 1 )
    • stellar ( 1 )
Q82.8     Other specified congenital malformations of skin Abnormal palmar creases Accessory skin tags Benign familial pemphigus [Hailey-Hailey] Cutis laxa (hyperelastica) Dermatoglyphic anomalies Inherited keratosis palmaris et plantaris Keratosis follicularis [Darier-White] Excludes: Ehlers-Danlos syndrome ( Q79.6 ) Q82.9     Congenital malformation of skin, unspecified

 Q83 Congenital malformations of breast

Excludes: absence of pectoral muscle ( Q79.8 ) Q83.0 Congenital absence of breast with absent nipple Q83.1 Accessory breast Supernumerary breast Q83.2 Absent nipple Q83.3 Accessory nipple Supernumerary nipple Q83.8   Other congenital malformations of breast Hypoplasia of breast Q83.9   Congenital malformation of breast, unspecified    

 Q84   Other congenital malformations of integument

Q84.0   Congenital alopecia Congenital atrichosis Q84.1 Congenital morphological disturbances of hair, not elsewhere classified Beaded hair Monilethrix Pili annulati Excludes: Menkes' kinky hair syndrome ( E83.0 ) Q84.2   Other congenital malformations of hair Congenital:
  • hypertrichosis
  • malformation of hair NOS Persistent lanugo
Q84.3   Anonychia Excludes: nail patella syndrome ( Q87.2 ) Q84.4   Congenital leukonychia Q84.5   Enlarged and hypertrophic nails Congenital onychauxis Pachyonychia Q84.6   Other congenital malformations of nails Congenital:
  • clubnail
  • koilonychia
  • malformation of nail NOS
Q84.8   Other specified congenital malformations of integument Aplasia cutis congenita Q84.9     Congenital malformation of integument, unspecified Congenital:
  • anomaly NOS }
  • deformity NOS
of integument NOS  

 Q85   Phakomatoses, not elsewhere classified

Excludes: ataxia telangiectasia [Louis-Bar] ( G11.3 ) familial dysautonomia [Riley-Day] ( G90.1 ) Q85.0     Neurofibromatosis (nonmalignant) Von Recklinghausen's disease Q85.1     Tuberous sclerosis Bourneville's disease Epiloia Q85.8     Other phakomatoses, not elsewhere classified Syndrome:
  • Peutz-Jeghers
  • Sturge-Weber(-Dimitri)
  • von Hippel-Lindau
Excludes: Meckel-Gruber syndrome ( Q61.9 ) Q85.9     Phakomatosis, unspecified Hamartosis NOS  

 Q86    Congenital malformation syndromes due to known exogenous causes, not elsewhere classified

Excludes:     iodine-deficiency-related hypothyroidism ( E00-E02 ) nonteratogenic effects of substances transmitted via placenta or breast milk ( P04.- ) Q86.0     Fetal alcohol syndrome (dysmorphic) Q86.1     Fetal hydantoin syndrome Meadow's syndrome Q86.2     Dysmorphism due to warfarin Q86.8     Other congenital malformation syndromes due to known exogenous causes    

 Q87 Other specified congenital malformation syndromes affecting multiple systems

Q87.0 Congenital malformation syndromes predominantly affecting facial appearance Acrocephalopolysyndactyly Acrocephalosyndactyly [Apert] Cryptophthalmos syndrome Cyclopia Syndrome:
  • Goldenhar
  • Moebius
  • oro-facial-digital
  • Robin Whistling face
Q87.1 Congenital malformation syndromes predominantly associated with short stature Syndrome:
  • Aarskog
  • Cockayne
  • De Lange
  • Dubowitz
  • Noonan
  • Prader-Willi
  • Robinow-Silverman-Smith
  • Russell-Silver
  • Seckel
  • Smith-Lemli-Opitz
Excludes: Ellis-van Creveld syndrome ( Q77.6 ) Q87.2 Congenital malformation syndromes predominantly involving limbs Syndrome:
  • Holt-Oram
  • Klippel-Trénaunay-Weber
  • nail patella
  • Rubinstein-Taybi
  • sirenomelia
  • thrombocytopenia with absent radius [TAR]
  Q87.3   Congenital malformation syndromes involving early overgrowth Syndrome:
  • Beckwith-Wiedemann
  • Sotos
  • Weaver
Q87.4   Marfan's syndrome Q87.5 Other congenital malformation syndromes with other skeletal changes Q87.8 Other specified congenital malformation syndromes, not elsewhere classified Syndrome:
  • Alport
  • Laurence-Moon(-Bardet)-Biedl
  • Zellweger

 Q89   Other congenital malformations, not elsewhere

classified Q89.0   Congenital malformations of spleen Asplenia (congenital) Congenital splenomegaly Excludes: isomerism of atrial appendages (with asplenia or polysplenia) ( Q20.6 ) Q89.1   Congenital malformations of adrenal gland Excludes: congenital adrenal hyperplasia ( E25.0 ) Q89.2   Congenital malformations of other endocrine glands Congenital malformation of parathyroid or thyroid gland Persistent thyroglossal duct Thyroglossal cyst Q89.3   Situs inversus Dextrocardia with situs inversus Mirror-image atrial arrangement with situs inversus Situs inversus or transversus:
  • abdominalis
  • thoracis
Transposition of viscera:
  • abdominal
  • thoracic
  Excludes: dextrocardia NOS ( Q24.0 ) laevocardia ( Q24.1 ) Q89.4   Conjoined twins Craniopagus Dicephaly Double monster Pygopagus Thoracopagus Q89.7   Multiple congenital malformations, not elsewhere classified Monster NOS Multiple congenital:
  • anomalies NOS
  • deformities NOS
Excludes: congenital malformation syndromes affecting multiple systems ( Q87.- ) Q89.8 Other specified congenital malformations Q89.9 Congenital malformation, unspecified Congenital:
  • anomaly NOS
  • deformity NOS

Chromosomal abnormalities, not elsewhere classified (Q90-Q99)

 Q90      Down's syndrome

Q90.0       Trisomy 21, meiotic nondisjunction Q90.1       Trisomy 21, mosaicism (mitotic nondisjunction) Q90.2   Trisomy 21, translocation Q90.9       Down's syndrome, unspecified Trisomy 21 NOS  

 Q91     Edwards' syndrome and Patau's syndrome

Q91.0      Trisomy 18, meiotic nondisjunction Q91.1      Trisomy 18, mosaicism (mitotic nondisjunction) Q91.2    Trisomy 18, translocation   Q91.3      Edwards' syndrome, unspecified Q91.4  Trisomy 13, meiotic nondisjunction Q91.5      Trisomy 13, mosaicism (mitotic nondisjunction) Q91.6       Trisomy 13, translocation Q91.7      Patau's syndrome, unspecified  

 Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified

Includes:      unbalanced translocations and insertions Excludes:     trisomies of chromosomes 13, 18, 21 ( Q90-Q91 ) Q92.0   Whole chromosome trisomy, meiotic nondisjunction Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction) Q92.2 Major partial trisomy Whole arm or more duplicated. Q92.3   Minor partial trisomy Less than whole arm duplicated. Q92.4   Duplications seen only at prometaphase Q92.5 Duplications with other complex rearrangements Q92.6 Extra marker chromosomes Q92.7   Triploidy and polyploidy Q92.8 Other specified trisomies and partial trisomies of autosomes Q92.9 Trisomy and partial trisomy of autosomes, unspecified

 Q93     Monosomies and deletions from the autosomes, not elsewhere classified

Q93.0      Whole chromosome monosomy, meiotic nondisjunction Q93.1      Whole chromosome monosomy, mosaicism (mitotic nondisjunction) Q93.2      Chromosome replaced with ring or dicentric   Q93.3      Deletion of short arm of chromosome 4 Wolff-Hirschorn syndrome Q93.4      Deletion of short arm of chromosome 5 Cri-du-chat syndrome Q93.5      Other deletions of part of a chromosome Angelman syndrome Q93.6      Deletions seen only at prometaphase Q93.7      Deletions with other complex rearrangements Q93.8        Other deletions from the autosomes Q93.9      Deletion from autosomes, unspecified  

 Q95 Balanced rearrangements and structural markers, not elsewhere classified

Includes: Robertsonian and balanced reciprocal translocations and insertions Q95.0 Balanced translocation and insertion in normal individual Q95.1 Chromosome inversion in normal individual Q95.2 Balanced autosomal rearrangement in abnormal individual Q95.3 Balanced sex/autosomal rearrangement in abnormal individual Q95.4 Individuals with marker heterochromatin Q95.5   Individuals with autosomal fragile site Q95.8 Other balanced rearrangements and structural markers Q95.9 Balanced rearrangement and structural marker, unspecified  

 Q96   Turner's syndrome

Excludes: Noonan's syndrome ( Q87.1 ) Q96.0   Karyotype 45,X Q96.1   Karyotype 46,X iso (Xq) Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq) Q96.3 Mosaicism, 45,X/46,XX or XY   Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome Q96.8 Other variants of Turner's syndrome Q96.9 Turner's syndrome, unspecified  

 Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified

Excludes: Turner's syndrome ( Q96.- ) Q97.0   Karyotype 47,XXX Q97.1   Female with more than three X chromosomes Q97.2 Mosaicism, lines with various numbers of X chromosomes Q97.3 Female with 46,XY karyotype Q97.8 Other specified sex chromosome abnormalities, female phenotype Q97.9   Sex chromosome abnormality, female phenotype, unspecified  

 Q98     Other sex chromosome abnormalities, male phenotype, not elsewhere classified

Q98.0      Klinefelter's syndrome karyotype 47,XXY Q98.1      Klinefelter's syndrome, male with more than two X chromosomes Q98.2      Klinefelter's syndrome, male with 46,XX karyotype Q98.3               Other male with 46,XX karyotype Q98.4      Klinefelter's syndrome, unspecified Q98.5              Karyotype 47,XYY Q98.6      Male with structurally abnormal sex chromosome Q98.7  Male with sex chromosome mosaicism Q98.8      Other specified sex chromosome abnormalities, male phenotype Q98.9      Sex chromosome abnormality, male phenotype, unspecified    

 Q99     Other chromosome abnormalities, not elsewhere classified

Q99.0      Chimera 46,XX/46,XY Chimera 46,XX/46,XY true hermaphrodite Q99.1     46,XX true hermaphrodite 46,XX with streak gonads 46,XY with streak gonads Pure gonadal dysgenesis Q99.2     Fragile X chromosome Fragile X syndrome Q99.8 Other specified chromosome abnormalities Q99.9 Chromosomal abnormality, unspecified

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