Chapter XVII

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Excludes: cleft lip and cleft palate ( Q35-Q37 )
congenital malformation of:
· cervical spine ( Q05.0 , Q05.5 , Q67.5 , Q76.0-Q76.4 )
· larynx ( Q31.- )
· lip NEC ( Q38.0 )
· nose ( Q30.- )
· parathyroid gland ( Q89.2 )
· thyroid gland ( Q89.2 )

Q10 Congenital malformations of eyelid, lacrimal apparatus and orbit
Excludes: cryptophthalmos:
· NOS ( Q11.2 )
· syndrome ( Q87.0 )
Q10.0 Congenital ptosis
Q10.1 Congenital ectropion
Q10.2 Congenital entropion
Q10.3 Other congenital malformations of eyelid
Absence or agenesis of:
· cilia
· eyelid
· 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
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
Q13.2 Other congenital malformations of iris
Anisocoria, congenital
Atresia of pupil
Congenital malformation of iris NOS
Q13.3 Congenital corneal opacity
Congenital sclerocornea
Q13.4 Other congenital corneal malformations
Congenital malformation of cornea NOS
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
Persistent hyperplastic primary vitreous [PHPV]
Q14.1 Congenital malformation of retina
Congenital retinal aneurysm
Q14.2 Congenital malformation of optic disc

Coloboma of optic disc
Tilted 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
# Axenfeld's anomaly
Glaucoma of newborn
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
· 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
· 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
Preauricular appendage or tag
· 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
Q18.2 Other branchial cleft malformations
Branchial cleft malformation NOS
Cervical auricle
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
· cyst
· fistula
· sinus
of face and neck
Q18.9 Congenital malformation of face and neck, unspecified
Congenital anomaly NOS of face and neck