ICD-10 Chapter Q: 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
 * 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
 * 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 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
 * 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
 * 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
 * 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 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