ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities

(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

() Other congenital malformations of spinal cord
- () 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

() Other congenital malformations of nervous system
- () 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
- () 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
- () Macrotia
- () Microtia
- () Other misshapen ear
- () Misplaced ear
- () Prominent 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
- () 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

() 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 [...] and pseudohermaphroditism
- () Hermaphroditism, not elsewhere classified
- () Male pseudohermaphroditism, not elsewhere classified
- () Female pseudohermaphroditism, not elsewhere classified
- () Pseudohermaphroditism, unspecified
- () Indeterminate [...], 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
- () Craniofacial dysostosis
- () 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
- () Thanatophoric short stature
- () Short rib syndrome
- () 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
- () Polyostotic fibrous dysplasia
- () Osteopetrosis
- () Progressive diaphyseal dysplasia
- () Enchondromatosis
  - Maffucci's syndrome
  - Ollier's disease
- () Metaphyseal dysplasia
- () Multiple congenital exostoses
- () 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
- () 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
- () Accessory breast
- () Accessory nipple
  - Supernumerary nipple

() 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
- () 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)

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

() Other [...] chromosome abnormalities, female phenotype, not elsewhere classified
- () Karyotype 47,[...]
- () Female with more than three X chromosomes
- () Mosaicism, lines with various numbers of X chromosomes
- () Female with 46,XY karyotype
- () Other specified [...] chromosome abnormalities, female phenotype
- () [...] chromosome abnormality, female phenotype, unspecified

() Other [...] 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 [...] chromosome
- () Male with [...] chromosome mosaicism
- () Other specified [...] chromosome abnormalities, male phenotype
- () [...] 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

Main Menu

ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities

(Q00-Q07) nervous system

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

(Q20-Q28) circulatory system

(Q30-Q34) respiratory system

(Q35-Q45) digestive system

(Q50-Q56) genital organs

(Q60-Q64) urinary system

(Q65-Q79) musculoskeletal system

(Q80-Q89) Other

Q90-Q99 - Chromosomal abnormalities, not elsewhere classified

See also

ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities

(Q00-Q07) nervous system

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

(Q20-Q28) circulatory system

(Q30-Q34) respiratory system

(Q35-Q45) digestive system

(Q50-Q56) genital organs

(Q60-Q64) urinary system

(Q65-Q79) musculoskeletal system

(Q80-Q89) Other

Q90-Q99 - Chromosomal abnormalities, not elsewhere classified

See also

See Also

ICD-10 Chapter II: Neoplasms; Chapter III: Diseases of the blood and blood-forming organs, and certain disorders involving the immune mechanism

ICD-10 Chapter I: Certain infectious and parasitic diseases

ICD-10 Chapter XXI: Factors influencing health status and contact with health services

ICD-10 Chapter XX: External causes of morbidity and mortality

ICD-10 Chapter XIX: Injury, poisoning and certain other consequences of external causes