Q00-Q89 - Congenital malformations and deformations

(Q00-Q07) nervous system

• Anencephaly and similar malformations
• Anencephaly
• Acephaly
• Acrania
• Amyelencephaly
• Hemianencephaly
• Hemicephaly
• Craniorachischisis
• Iniencephaly

• Encephalocele
• Microcephaly
• Congenital hydrocephalus
• Malformations of aqueduct of Sylvius
• Atresia of foramina of Magendie and Luschka
• Dandy-Walker syndrome
• Other congenital hydrocephalus
• Congenital hydrocephalus, unspecified

• Other congenital malformations of brain
• Congenital malformations of corpus callosum
• Arhinencephaly
• Holoprosencephaly
• Other reduction deformities of brain
• Agyria and Lissencephaly (EUROCAT Q04.33)
• Microgyria and Pachygyria (EUROCAT Q04.34)
• Hydranencephaly (EUROCAT Q04.35)
• Septo-optic dysplasia
• Megalencephaly
• Congenital cerebral cysts
• Porencephaly
• Schizencephaly
• Other specified congenital malformations of brain
• Congenital malformation of brain, unspecified

• Spina bifida
• hydromeningocele (spinal)
• meningocele(spinal)
• meningomyelocele
• myelocele
• myelomeningocele
• rachischisis
• syringomyelocele

• Amyelia
• Hypoplasia and dysplasia of spinal cord
• Diastematomyelia
• Other congenital cauda equina malformations
• Hydromyelia
• Other specified congenital malformations of spinal cord
• Congenital malformation of spinal cord, unspecified

• Arnold-Chiari syndrome
• Other specified congenital malformations of nervous system
• Congenital malformation of nervous system, unspecified

(Q10-Q18) eye, ear, face and neck

• Congenital malformations of eyelid, lacrimal apparatus and orbit
• Congenital ptosis
• Congenital ectropion
• Congenital entropion
• Other congenital malformations of eyelid
• Ablepharon
• Blepharophimosis, congenital
• Coloboma of eyelid
• Absence and agenesis of lacrimal apparatus
• Congenital stenosis and stricture of lacrimal duct
• Other congenital malformations of lacrimal apparatus
• Congenital malformation of orbit

• Anophthalmos, microphthalmos and macrophthalmos
• Cystic eyeball
• Other anophthalmos
• Microphthalmos
• Macrophthalmos

• Congenital lens malformations
• Congenital cataract
• Congenital displaced lens
• Coloboma of lens
• Congenital aphakia
• Spherophakia
• Other congenital lens malformations
• Congenital lens malformation, unspecified

• Congenital malformations of anterior segment of eye
• Coloboma of iris
• Absence of iris
• Aniridia
• Other congenital malformations of iris
• Congenital corneal opacity
• Other congenital corneal malformations
• Blue sclera
• Other congenital malformations of anterior segment of eye
• Congenital malformation of anterior segment of eye, unspecified

• Congenital malformations of posterior segment of eye
• Congenital malformation of vitreous humour
• Congenital malformation of retina
• Congenital malformation of optic disc
• Coloboma of optic disc
• Congenital malformation of choroid
• Other congenital malformations of posterior segment of eye
• Coloboma of the fundus
• Congenital malformation of posterior segment of eye, unspecified

• Other congenital malformations of eye
• Congenital glaucoma
• Buphthalmos
• Glaucoma of newborn
• Hydrophthalmos
• Keratoglobus, congenital, with glaucoma
• Macrocornea with glaucoma
• Macrophthalmos in congenital glaucoma
• Megalocornea with glaucoma

• Congenital malformations of ear causing impairment of hearing
• Other congenital malformations of ear
• Accessory auricle
• Accessory tragus
• Polyotia
• Preauricular appendage or tag
• Macrotia
• Microtia
• Other misshapen ear
• Pointed ear
• Misplaced ear
• Low-set ears
• Prominent ear
• Bat ear
• Other specified congenital malformations of ear
• Congenital malformation of ear, unspecified

• Other congenital malformations of face and neck
• Sinus, fistula and cyst of branchial cleft
• Preauricular sinus and cyst
• Other branchial cleft malformations
• Otocephaly
• Webbing of neck
• Macrostomia
• Microstomia
• Macrocheilia
• Microcheilia
• Other specified congenital malformations of face and neck
• Congenital malformation of face and neck, unspecified

(Q20-Q28) circulatory system

• Congenital malformations of cardiac chambers and connections
• Common arterial trunk
• Persistent truncus arteriosus
• Double outlet right ventricle
• Taussig-Bing syndrome
• Double outlet left ventricle
• Discordant ventriculoarterial connection
• Dextrotransposition of aorta
• Transposition of great vessels (complete)
• Double inlet ventricle
• Discordant atrioventricular connection
• Corrected transposition
• Isomerism of atrial appendages

• Congenital malformations of cardiac septa
• Ventricular septal defect
• Atrial septal defect
• Atrioventricular septal defect
• Tetralogy of Fallot
• Other congenital malformations of cardiac septa
• Eisenmenger's syndrome

• Congenital malformations of pulmonary and tricuspid valves
• Pulmonary valve atresia
• Congenital pulmonary valve stenosis
• Congenital pulmonary valve insufficiency
• Other congenital malformations of pulmonary valve
• Congenital tricuspid stenosis
• Tricuspid atresia
• Ebstein's anomaly
• Hypoplastic right heart syndrome
• Other congenital malformations of tricuspid valve
• Congenital malformation of tricuspid valve, unspecified

• Congenital malformations of aortic and mitral valves
• Congenital stenosis of aortic valve
• Congenital insufficiency of aortic valve
• Congenital mitral stenosis
• Congenital mitral insufficiency
• Hypoplastic left heart syndrome
• Other congenital malformations of aortic and mitral valves
• Congenital malformation of aortic and mitral valves, unspecified

• Other congenital malformations of heart
• Dextrocardia
• Laevocardia
• Cor triatriatum
• Pulmonary infundibular stenosis
• Congenital subaortic stenosis
• Malformation of coronary vessels
• Congenital heart block
• Other specified congenital malformations of heart
• Congenital malformation of heart, unspecified

• Congenital malformations of great arteries
• Patent ductus arteriosus
• Coarctation of aorta
• Atresia of aorta
• Stenosis of aorta
• Other congenital malformations of aorta
• Overriding aorta (EUROCAT Q25.42)
• Aneurysm of sinus of Valsalva (ruptured) (EUROCAT Q25.43)
• Double aortic arch (vascular ring of aorta)
• Atresia of pulmonary artery
• Stenosis of pulmonary artery
• Other congenital malformations of pulmonary artery

• Congenital malformations of great veins
• Congenital stenosis of vena cava
• Persistent left superior vena cava
• Total anomalous pulmonary venous connection
• Partial anomalous pulmonary venous connection
• Anomalous pulmonary venous connection, unspecified
• Anomalous portal venous connection
• Portal vein-hepatic artery fistula
• Other congenital malformations of great veins
• Scimitar syndrome
• Congenital malformation of great vein, unspecified

• Other congenital malformations of peripheral vascular system
• Congenital absence and hypoplasia of umbilical artery
• Congenital renal artery stenosis
• Other congenital malformations of renal artery
• Peripheral arteriovenous malformation
• Congenital phlebectasia
• Other specified congenital malformations of peripheral vascular system
• Congenital malformation of peripheral vascular system, unspecified

• Other congenital malformations of circulatory system
• Arteriovenous malformation of precerebral vessels
• Other malformations of precerebral vessels
• Arteriovenous malformation of cerebral vessels
• Other malformations of cerebral vessels
• Other specified congenital malformations of circulatory system
• Congenital malformation of circulatory system, unspecified

(Q30-Q34) respiratory system

• Congenital malformations of [[nose
• Choanal atresia
• Agenesis and underdevelopment of nose
• Fissured, notched and cleft nose
• Congenital perforated nasal septum
• Other congenital malformations of nose
• Congenital malformation of nose, unspecified

• Congenital malformations of larynx
• Web of larynx
• Congenital subglottic stenosis
• Laryngeal hypoplasia
• Laryngocele
• Congenital laryngomalacia
• Other congenital malformations of larynx
• Congenital malformation of larynx, unspecified

• Congenital malformations of trachea and bronchus
• Congenital tracheomalacia
• Other congenital malformations of trachea
• Congenital bronchomalacia
• Congenital stenosis of bronchus
• Other congenital malformations of bronchus

• Congenital malformations of lung
• Congenital cystic lung
• Accessory lobe of lung
• Sequestration of lung
• Agenesis of lung
• Congenital bronchiectasis
• Ectopic tissue in lung
• Hypoplasia and dysplasia of lung
• Other congenital malformations of lung
• Congenital malformation of lung, unspecified

• Other congenital malformations of respiratory system
• Anomaly of pleura
• Congenital cyst of mediastinum
• Other specified congenital malformations of respiratory system
• Congenital malformation of respiratory system, unspecified

(Q35-Q45) digestive system

• Cleft palate
• Cleft lip
• Cleft palate with cleft lip
• Other congenital malformations of tongue, mouth and pharynx
• Congenital malformations of lips, not elsewhere classified
• Van der Woude's syndrome
• Ankyloglossia
• Macroglossia
• Other congenital malformations of tongue
• Aglossia
• Bifid tongue
• Hypoplasia of tongue
• Hypoglossia
• Microglossia
• Congenital malformations of salivary glands and ducts
• Congenital malformations of palate, not elsewhere classified
• Other congenital malformations of mouth
• Pharyngeal pouch

• Congenital malformations of oesophagus
• Atresia of oesophagus without fistula
• Atresia of oesophagus with tracheo-oesophageal fistula
• Congenital tracheo-oesophageal fistula without atresia
• Congenital stenosis and stricture of oesophagus
• Oesophageal web
• Congenital dilatation of oesophagus
• Diverticulum of oesophagus
• Other congenital malformations of oesophagus
• Congenital malformation of oesophagus, unspecified

• Other congenital malformations of upper alimentary tract
• Congenital hypertrophic pyloric stenosis
• Congenital hiatus hernia

• Congenital absence, atresia and stenosis of small intestine
• Congenital absence, atresia and stenosis of duodenum
• Congenital absence, atresia and stenosis of jejunum
• Congenital absence, atresia and stenosis of ileum
• Congenital absence, atresia and stenosis of other specified parts of small intestine
• Congenital absence, atresia and stenosis of small intestine, part unspecified

• Congenital absence, atresia and stenosis of large intestine
• Congenital absence, atresia and stenosis of rectum with fistula
• Congenital absence, atresia and stenosis of rectum without fistula
• Imperforate rectum
• Congenital absence, atresia and stenosis of anus with fistula
• Congenital absence, atresia and stenosis of anus without fistula
• Imperforate anus
• Congenital absence, atresia and stenosis of other parts of large intestine
• Congenital absence, atresia and stenosis of large intestine, part unspecified

• Other congenital malformations of intestine
• Meckel's diverticulum
• Hirschsprung's disease
• Other congenital functional disorders of colon
• Congenital malformations of intestinal fixation
• Malrotation of colon
• Duplication of intestine
• Ectopic anus
• Congenital fistula of rectum and anus
• Persistent cloaca
• Other specified congenital malformations of intestine
• Dolichocolon
• Megaloappendix
• Megaloduodenum
• Microcolon

• Congenital malformations of gallbladder, bile ducts and liver
• Agenesis, aplasia and hypoplasia of gallbladder
• Other congenital malformations of gallbladder
• Atresia of bile ducts
• Congenital stenosis and stricture of bile ducts
• Choledochal cyst
• Other congenital malformations of bile ducts
• Cystic disease of liver
• Other congenital malformations of liver
• Accessory liver
• Alagille's syndrome

• Other congenital malformations of digestive system
• Agenesis, aplasia and hypoplasia of pancreas
• Annular pancreas
• Congenital pancreatic cyst
• Other congenital malformations of pancreas and pancreatic duct
• Accessory pancreas
• Other specified congenital malformations of digestive system
• Congenital malformation of digestive system, unspecified]]

(Q50-Q56) genital organs

• Congenital malformations of ovaries, fallopian tubes and broad ligaments
• Congenital malformations of uterus and cervix
• Agenesis and aplasia of uterus
• Doubling of uterus with doubling of cervix and vagina
• Other doubling of uterus
• Bicornate uterus
• Unicornate uterus
• Agenesis and aplasia of cervix
• Embryonic cyst of cervix
• Congenital fistulae between uterus and digestive and urinary tracts
• Other congenital malformations of uterus and cervix
• Congenital malformation of uterus and cervix, unspecified

• Other congenital malformations of female genitalia
• Congenital absence of vagina
• Doubling of vagina
• Congenital rectovaginal fistula
• Imperforate hymen
• Other congenital malformations of vagina
• Fusion of labia
• Congenital malformation of clitoris
• Other congenital malformations of vulva
• Other specified congenital malformations of female genitalia
• Congenital malformation of female genitalia, unspecified

• Undescended testicle
• Hypospadias
• Hypospadias, balanic
• Hypospadias, penile
• Hypospadias, penoscrotal
• Hypospadias, perineal
• Congenital chordee
• Other hypospadias
• Hypospadias, unspecified

• Other congenital malformations of male genital organs
• Absence and aplasia of testis
• Monorchism
• Hypoplasia of testis and scrotum
• Other congenital malformations of testis and scrotum
• Atresia of vas deferens
• Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
• Congenital absence and aplasia of penis
• Other congenital malformations of penis
• Other specified congenital malformations of male genital organs
• Congenital malformation of male genital organ, unspecified

• Indeterminate sex and pseudohermaphroditism
• Hermaphroditism, not elsewhere classified
• Male pseudohermaphroditism, not elsewhere classified
• Female pseudohermaphroditism, not elsewhere classified
• Pseudohermaphroditism, unspecified
• Indeterminate sex, unspecified

(Q60-Q64) urinary system

• Renal agenesis and other reduction defects of kidney
• Renal agenesis, unilateral
• Renal agenesis, bilateral
• Renal agenesis, unspecified
• Renal hypoplasia, unilateral
• Renal hypoplasia, bilateral
• Renal hypoplasia, unspecified
• Potter's syndrome

• Cystic kidney disease
• Congenital single renal cyst
• Polycystic kidney, autosomal recessive
• Polycystic kidney, autosomal dominant
• Polycystic kidney, unspecified
• Renal dysplasia
• Medullary cystic kidney
• Other cystic kidney diseases
• Cystic kidney disease, unspecified
• Meckel-Gruber syndrome

• Congenital obstructive defects of renal pelvis and congenital malformations of ureter
• Congenital hydronephrosis
• Atresia and stenosis of ureter
• Congenital megaloureter
• Other obstructive defects of renal pelvis and ureter
• Agenesis of ureter
• Duplication of ureter
• Malposition of ureter
• Congenital vesico-uretero-renal reflux
• Other congenital malformations of ureter

• Other congenital malformations of kidney
• Accessory kidney
• Lobulated, fused and horseshoe kidney
• Ectopic kidney
• Hyperplastic and giant kidney
• Other specified congenital malformations of kidney
• Congenital malformation of kidney, unspecified

• Other congenital malformations of urinary system
• Epispadias
• Exstrophy of urinary bladder
• Congenital posterior urethral valves
• Other atresia and stenosis of urethra and bladder neck
• Malformation of urachus
• Cyst of urachus
• Patent urachus
• Prolapse of urachus
• Congenital absence of bladder and urethra
• Congenital diverticulum of bladder
• Other congenital malformations of bladder and urethra
• Other specified congenital malformations of urinary system
• Congenital malformation of urinary system, unspecified

(Q65-Q79) musculoskeletal system

• Congenital deformities of hip
• Congenital dislocation of hip, unilateral
• Congenital dislocation of hip, bilateral
• Congenital dislocation of hip, unspecified
• Congenital subluxation of hip, unilateral
• Congenital subluxation of hip, bilateral
• Congenital subluxation of hip, unspecified
• Unstable hip
• Other congenital deformities of hip
• Congenital deformity of hip, unspecified

• Congenital deformities of feet
• Talipes equinovarus
• Talipes calcaneovarus
• Metatarsus varus
• Other congenital varus deformities of feet
• Talipes calcaneovalgus
• Congenital pes planus
• Other congenital valgus deformities of feet
• Pes cavus
• Other congenital deformities of feet
• Congenital deformity of feet, unspecified

• Congenital musculoskeletal deformities of head, face, spine and chest
• Facial asymmetry
• Compression facies
• Dolichocephaly
• Plagiocephaly
• Other congenital deformities of skull, face and jaw
• Congenital deformity of spine
• Pectus excavatum
• Pectus carinatum
• Other congenital deformities of chest

• Other congenital musculoskeletal deformities
• Congenital deformity of sternocleidomastoid muscle
• Congenital deformity of hand
• Congenital deformity of knee
• Congenital bowing of femur
• Congenital bowing of tibia and fibula
• Congenital bowing of long bones of leg, unspecified
• Other specified congenital musculoskeletal deformities

• Polydactyly
• Accessory finger(s)
• Accessory thumb(s)
• Accessory toe(s)
• Polydactyly, unspecified

• Syndactyly
• Fused fingers
• Webbed fingers
• Fused toes
• Webbed toes
• Polysyndactyly
• Syndactyly, unspecified

• Reduction defects of upper limb
• Congenital complete absence of upper limb(s)
• Congenital absence of upper arm and forearm with hand present
• Congenital absence of both forearm and hand
• Congenital absence of hand and finger(s)
• Longitudinal reduction defect of radius
• Longitudinal reduction defect of ulna
• Lobster-claw hand
• Other reduction defects of upper limb(s)
• Reduction defect of upper limb, unspecified

• Reduction defects of lower limb
• Congenital complete absence of lower limb(s)
• Congenital absence of thigh and lower leg with foot present
• Congenital absence of both lower leg and foot
• Congenital absence of foot and toe(s)
• Longitudinal reduction defect of femur
• Longitudinal reduction defect of tibia
• Longitudinal reduction defect of fibula
• Split foot
• Other reduction defects of lower limb(s)
• Reduction defect of lower limb, unspecified

• Reduction defects of unspecified limb
• Congenital absence of unspecified limb(s)
• Amelia NOS
• Phocomelia, unspecified limb(s)
• Other reduction defects of unspecified limb(s)

• Other congenital malformations of limb(s)
• 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
• Congenital malformation of knee
• genu valgum
• genu varum
• Other congenital malformations of lower limb(s), including pelvic girdle
• Arthrogryposis multiplex congenita
• Other specified congenital malformations of limb(s)
• Unspecified congenital malformation of limb(s)

• Other congenital malformations of skull and face bones
• Craniosynostosis
• Acrocephaly
• Imperfect fusion of skull
• Oxycephaly
• Trigonocephaly
• Craniofacial dysostosis
• Crouzon's disease
• Hypertelorism
• Macrocephaly
• Mandibulofacial dysostosis
• Franceschetti syndrome
• Treacher-Collins syndrome
• Oculomandibular dysostosis
• Other specified congenital malformations of skull and face bones
• Absence of skull bone, congenital
• Congenital deformity of forehead
• Platybasia
• Congenital malformation of skull and face bones, unspecified

• Congenital malformations of spine and bony thorax
• Spina bifida occulta
• Klippel-Feil syndrome
• Congenital spondylolisthesis
• Congenital scoliosis due to congenital bony malformation
• Other congenital malformations of spine, not associated with scoliosis
• Cervical rib
• Other congenital malformations of ribs
• Congenital malformation of sternum
• Congenital absence of sternum
• Sternum bifidum
• Other congenital malformations of bony thorax
• Congenital malformation of bony thorax, unspecified

• Osteochondrodysplasia with defects of growth of tubular bones and spine
• Achondrogenesis
• Hypochondrogenesis
• Thanatophoric short stature
• Short rib syndrome
• Asphyxiating thoracic dysplasia (Jeune)
• Chondrodysplasia punctata
• Achondroplasia
• Hypochondroplasia
• Osteosclerosis congenita
• Dystrophic dysplasia
• Chondroectodermal dysplasia
• Ellis-van Creveld syndrome
• Spondyloepiphyseal dysplasia
• Other osteochondrodysplasia with defects of growth of tubular bones and spine
• Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified

• Other osteochondrodysplasias
• Osteogenesis imperfecta
• Fragilitas ossium
• Osteopsathyrosis
• Polyostotic fibrous dysplasia
• Albright(-McCune)(-Sternberg) syndrome
• Osteopetrosis
• Albers-Schönberg syndrome
• Progressive diaphyseal dysplasia
• Camurati-Engelmann syndrome
• Enchondromatosis
• Maffucci's syndrome
• Ollier's disease
• Metaphyseal dysplasia
• Pyle's syndrome
• Multiple congenital exostoses
• Diaphyseal aclasis
• Other specified osteochondrodysplasias
• Osteopoikilosis
• Osteochondrodysplasia, unspecified
• Chondrodystrophy NOS
• Osteodystrophy NOS

• Congenital malformations of the musculoskeletal system, not elsewhere classified
• Congenital diaphragmatic hernia
• Other congenital malformations of diaphragm
• Exomphalos
• Omphalocele
• Gastroschisis
• Prune belly syndrome
• Other congenital malformations of abdominal wall
• Ehlers-Danlos syndrome
• Other congenital malformations of musculoskeletal system
• Accessory muscle
• Amyotrophia congenita
• Poland's syndrome
• Congenital malformation of musculoskeletal system, unspecified

(Q80-Q89) Other

• Congenital ichthyosis
• Ichthyosis vulgaris
• X-linked ichthyosis
• Lamellar ichthyosis
• Congenital bullous ichthyosiform erythroderma
• Harlequin fetus
• Other congenital ichthyosis
• Congenital ichthyosis, unspecified

• Epidermolysis bullosa
• Epidermolysis bullosa simplex
• Epidermolysis bullosa letalis
• Epidermolysis bullosa dystrophica
• Other epidermolysis bullosa
• Epidermolysis bullosa, unspecified

• Other congenital malformations of skin
• Hereditary lymphoedema
• Xeroderma pigmentosum
• Mastocytosis
• Urticaria pigmentosa
• Incontinentia pigmenti
• Ectodermal dysplasia (anhidrotic)
• Congenital non-neoplastic naevus
• Birthmark NOS
• naevus flammeus / Port-wine stain
• sanguineous naevus
• strawberry naevus
• vascular naevus NOS
• verrucous naevus
• 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) (ILDS Q82.868)
• Congenital malformation of skin, unspecified

• Congenital malformations of breast
• Congenital absence of breast with absent nipple
• Accessory breast
• Absent nipple
• Accessory nipple
• Supernumerary nipple
• Other congenital malformations of breast
• Hypoplasia of breast
• Congenital malformation of breast, unspecified

• Other congenital malformations of integument
• Congenital alopecia
• Congenital morphological disturbances of hair, not elsewhere classified
• Beaded hair
• Monilethrix
• Pili annulati
• Trichothiodystrophy (ILDS Q84.169)
• Other congenital malformations of hair
• Anonychia
• Congenital leukonychia
• Enlarged and hypertrophic nails
• Congenital onychauxis
• Pachyonychia
• Other congenital malformations of nails
• Other specified congenital malformations of integument
• Congenital malformation of integument, unspecified

• Phakomatoses, not elsewhere classified
• Neurofibromatosis (nonmalignant)
• Von Recklinghausen's disease (ILDS Q85.010)
• Neurofibromatosis II (ILDS Q85.020)
• Neurofibromatosis, segmental (ILDS Q85.030)
• Tuberous sclerosis
• Bourneville's disease
• Other phakomatoses, not elsewhere classified
• Sturge-Weber syndrome (EUROCAT Q85.81)
• von Hippel-Lindau disease (EUROCAT Q85.82)
• Phakomatosis, unspecified
• Hamartosis NOS

• Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
• Fetal alcohol syndrome (dysmorphic)
• Fetal hydantoin syndrome
• Meadow's syndrome
• Dysmorphism due to warfarin
• Other congenital malformation syndromes due to known exogenous causes

• Other specified congenital malformation syndromes affecting multiple systems
• Congenital malformation syndromes predominantly affecting facial appearance
• Acrocephalopolysyndactyly
• Acrocephalosyndactyly (Apert)
• Cryptophthalmos syndrome
• Cyclopia
• Goldenhar syndrome
• Moebius syndrome
• oro-facial-digital syndrome
• Robin syndrome
• Whistling face

• Congenital malformation syndromes predominantly associated with short stature
• Aarskog syndrome
• Cockayne syndrome (ILDS Q87.110)
• De Lange syndrome (ILDS Q87.170)
• Dubowitz syndrome
• Noonan syndrome
• Prader-Willi syndrome
• Robinow-Silverman-Smith syndrome
• Silver-Russell syndrome (ILDS Q87.114)
• Seckel syndrome
• Smith-Lemli-Opitz syndrome
• Sjögren-Larsson syndrome (ILDS Q87.136)
• Congenital malformation syndromes predominantly involving limbs
• Holt-Oram syndrome
• Klippel-Trénaunay-Weber (EUROCAT Q87.21, ILDS Q87.210)
• Nail-patella syndrome (ILDS Q87.230)
• Rubinstein-Taybi syndrome (EUROCAT Q87.23)
• sirenomelia
• thrombocytopenia with absent radius syndrome
• VATER syndrome
• Congenital malformation syndromes involving early overgrowth
• Beckwith-Wiedemann syndrome
• Sotos syndrome
• Weaver syndrome
• Marfan's syndrome
• Other congenital malformation syndromes with other skeletal changes
• Other specified congenital malformation syndromes, not elsewhere classified
• Alport syndrome (EUROCAT Q87.80)
• Bardet-Biedl syndrome (EUROCAT Q87.81)
• Zellweger's syndrome (EUROCAT Q87.83)
• William's syndrome (EUROCAT Q87.84)
• Angelman's syndrome (Happy puppet syndrome) (EUROCAT Q87.85)

• Other congenital malformations, not elsewhere classified
• Congenital malformations of spleen
• Asplenia (congenital)
• Congenital splenomegaly
• Congenital malformations of adrenal gland
• Congenital malformations of other endocrine glands
• Congenital malformation of parathyroid or thyroid gland
• Persistent thyroglossal duct
• Thyroglossal cyst
• Situs inversus
• Conjoined twins
• Multiple congenital malformations, not elsewhere classified
• Other specified congenital malformations
• Congenital malformation, unspecified

Q90-Q99 - Chromosomal abnormalities, not elsewhere classified

• Down's syndrome
• Trisomy 21, meiotic nondisjunction
• Trisomy 21, mosaicism (mitotic nondisjunction)
• Trisomy 21, translocation
• Down's syndrome, unspecified

• Trisomy 18 and Trisomy 13
• Trisomy 18, meiotic nondisjunction
• Trisomy 18, mosaicism (mitotic nondisjunction)
• Trisomy 18, translocation
• Edwards' syndrome, unspecified
• Trisomy 13, meiotic nondisjunction
• Trisomy 13, mosaicism (mitotic nondisjunction)
• Trisomy 13, translocation
• Patau's syndrome, unspecified

• Other trisomies and partial trisomies of the autosomes, not elsewhere classified
• Trisomy 9
• Warkany syndrome 2
• Whole chromosome trisomy, meiotic nondisjunction
• Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
• Major partial trisomy
• Minor partial trisomy
• Duplications seen only at prometaphase
• Duplications with other complex rearrangements
• Extra marker chromosomes
• Triploidy and polyploidy
• Other specified trisomies and partial trisomies of autosomes
• Trisomy and partial trisomy of autosomes, unspecified

• Monosomies and deletions from the autosomes, not elsewhere classified
• Whole chromosome monosomy, meiotic nondisjunction
• Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
• Chromosome replaced with ring or dicentric
• Deletion of short arm of chromosome 4
• Wolff-Hirschorn syndrome
• Deletion of short arm of chromosome 5
• Cri-du-chat syndrome
• Other deletions of part of a chromosome
• Angelman syndrome
• Deletion seen only at prometaphase
• Deletions with other complex rearrangements
• Other deletions from the autosomes
• Deletion from autosomes, unspecified

• Balanced rearrangements and structural markers, not elsewhere classified
• Robertsonian and balanced reciprocal translocations and insertions
• Balanced translocation and insertion in normal individual
• Chromosome inversion in normal individual
• Balanced autosomal rearrangement in abnormal individual
• Balanced sex/autosomal rearrangement in abnormal individual
• Individuals with marker heterochromatin
• Individuals with autosomal fragile site
• Other balanced rearrangements and structural markers
• Balanced rearrangement and structural marker, unspecified

• Turner syndrome
• Karyotype 45,X
• Karyotype 46,X iso (Xq)
• Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
• Mosaicism, 45,X/46,XX or XY
• Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
• Other variants of Turner's syndrome
• Turner's syndrome, unspecified

• Other sex chromosome abnormalities, female phenotype, not elsewhere classified
• Karyotype 47,XXX
• Female with more than three X chromosomes
• Mosaicism, lines with various numbers of X chromosomes
• Female with 46,XY karyotype
• Other specified sex chromosome abnormalities, female phenotype
• Sex chromosome abnormality, female phenotype, unspecified

• Other sex chromosome abnormalities, male phenotype, not elsewhere classified
• Klinefelter's syndrome karyotype 47,XXY
• Klinefelter's syndrome, male with more than two X chromosomes
• Klinefelter's syndrome, male with 46,XX karyotype
• Other male with 46,XX karyotype
• Klinefelter's syndrome, unspecified
• Karyotype 47,XYY
• Male with structurally abnormal sex chromosome
• Male with sex chromosome mosaicism
• Other specified sex chromosome abnormalities, male phenotype
• Sex chromosome abnormality, male phenotype, unspecified

• Other chromosome abnormalities, not elsewhere classified
• Chimera 46,XX/46,XY
• 46,XX true hermaphrodite
• 46,XX with streak gonads
• 46,XY with streak gonads
• Pure gonadal dysgenesis
• Fragile X chromosome
• Fragile X syndrome
• Other specified chromosome abnormalities
• Chromosomal abnormality, unspecified

See also

• List of ICD-10 codes
• International Statistical Classification of Diseases and Related Health Problems
• List of ICD-9 codes 740-759: Congenital anomalies
• Congenital disorder