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ICD Diagnosis
Q00 Anencephaly and similar malformations
Q00.0 Anencephaly
Q00.1 Craniorachischisis
Q00.2 Iniencephaly
Q01 Encephalocele
Q01.0 Frontal encephalocele
Q01.1 Nasofrontal encephalocele
Q01.2 Occipital encephalocele
Q01.8 Encephalocele of other sites
Q01.9 Encephalocele, unspecified
Q02 Microcephaly
Q03 Congenital hydrocephalus
Q03.0 Malformations of aqueduct of Sylvius
Q03.1 Atresia of foramina of Magendie and Luschka
Q03.8 Other congenital hydrocephalus
Q03.9 Congenital hydrocephalus, unspecified
Q04 Other congenital malformations of brain
Q04.0 Congenital malformations of corpus callosum
Q04.1 Arhinencephaly
Q04.2 Holoprosencephaly
Q04.3 Other reduction deformities of brain
Q04.4 Septo-optic dysplasia
Q04.5 Megalencephaly
Q04.6 Congenital cerebral cysts
Q04.8 Other specified congenital malformations of brain
Q04.9 Congenital malformation of brain, unspecified
Q05 Spina bifida
Q05.0 Cervical spina bifida with hydrocephalus
Q05.1 Thoracic spina bifida with hydrocephalus
Q05.2 Lumbar spina bifida with hydrocephalus
Q05.3 Sacral spina bifida with hydrocephalus
Q05.4 Unspecified spina bifida with hydrocephalus
Q05.5 Cervical spina bifida without hydrocephalus
Q05.6 Thoracic spina bifida without hydrocephalus
Q05.7 Lumbar spina bifida without hydrocephalus
Q05.8 Sacral spina bifida without hydrocephalus
Q05.9 Spina bifida, unspecified
Q06 Other congenital malformations of spinal cord
Q06.0 Amyelia
Q06.1 Hypoplasia and dysplasia of spinal cord
Q06.2 Diastematomyelia
Q06.3 Other congenital cauda equina malformations
Q06.4 Hydromyelia
Q06.8 Other specified congenital malformations of spinal cord
Q06.9 Congenital malformation of spinal cord, unspecified
Q07 Other congenital malformations of nervous system
Q07.0 Arnold-Chiari syndrome
Q07.8 Other specified congenital malformations of nervous system
Q07.9 Congenital malformation of nervous system, unspecified
Q10 Congenital malformations of eyelid, lacrimal apparatus and orbit
Q10.0 Congenital ptosis
Q10.1 Congenital ectropion
Q10.2 Congenital entropion
Q10.3 Other congenital malformations of eyelid
Q10.4 Absence and agenesis of lacrimal apparatus
Q10.5 Congenital stenosis and stricture of lacrimal duct
Q10.6 Other congenital malformations of lacrimal apparatus
Q10.7 Congenital malformation of orbit
Q11 Anophthalmos, microphthalmos and macrophthalmos
Q11.0 Cystic eyeball
Q11.1 Other anophthalmos
Q11.2 Microphthalmos
Q11.3 Macrophthalmos
Q12 Congenital lens malformations
Q12.0 Congenital cataract
Q12.1 Congenital displaced lens
Q12.2 Coloboma of lens
Q12.3 Congenital aphakia
Q12.4 Spherophakia
Q12.8 Other congenital lens malformations
Q12.9 Congenital lens malformation, unspecified
Q13 Congenital malformations of anterior segment of eye
Q13.0 Coloboma of iris
Q13.1 Absence of iris
Q13.2 Other congenital malformations of iris
Q13.3 Congenital corneal opacity
Q13.4 Other congenital corneal malformations
Q13.5 Blue sclera
Q13.8 Other congenital malformations of anterior segment of eye
Q13.9 Congenital malformation of anterior segment of eye, unspecified
Q14 Congenital malformations of posterior segment of eye
Q14.0 Congenital malformation of vitreous humour
Q14.1 Congenital malformation of retina
Q14.2 Congenital malformation of optic disc
Q14.3 Congenital malformation of choroid
Q14.8 Other congenital malformations of posterior segment of eye
Q14.9 Congenital malformation of posterior segment of eye, unspecified
Q15 Other congenital malformations of eye
Q15.0 Congenital glaucoma
Q15.8 Other specified congenital malformations of eye
Q15.9 Congenital malformation of eye, unspecified
Q16 Congenital malformations of ear causing impairment of hearing
Q16.0 Congenital absence of (ear) auricle
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
Q16.2 Absence of eustachian tube
Q16.3 Congenital malformation of ear ossicles
Q16.4 Other congenital malformations of middle ear
Q16.5 Congenital malformation of inner ear
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
Q17 Other congenital malformations of ear
Q17.0 Accessory auricle
Q17.1 Macrotia
Q17.2 Microtia
Q17.3 Other misshapen ear
Q17.4 Misplaced ear
Q17.5 Prominent ear
Q17.8 Other specified congenital malformations of ear
Q17.9 Congenital malformation of ear, unspecified
Q18 Other congenital malformations of face and neck
Q18.0 Sinus, fistula and cyst of branchial cleft
Q18.1 Preauricular sinus and cyst
Q18.2 Other branchial cleft malformations
Q18.3 Webbing of neck
Q18.4 Macrostomia
Q18.5 Microstomia
Q18.6 Macrocheilia
Q18.7 Microcheilia
Q18.8 Other specified congenital malformations of face and neck
Q18.9 Congenital malformation of face and neck, unspecified
Q20 Congenital malformations of cardiac chambers and connections
Q20.0 Common arterial trunk
Q20.1 Double outlet right ventricle
Q20.2 Double outlet left ventricle
Q20.3 Discordant ventriculoarterial connection
Q20.4 Double inlet ventricle
Q20.5 Discordant atrioventricular connection
Q20.6 Isomerism of atrial appendages
Q20.8 Other congenital malformations of cardiac chambers and connections
Q20.9 Congenital malformation of cardiac chambers and connections, unspecified
Q21 Congenital malformations of cardiac septa
Q21.0 Ventricular septal defect
Q21.1 Atrial septal defect
Q21.2 Atrioventricular septal defect
Q21.3 Tetralogy of Fallot
Q21.4 Aortopulmonary septal defect
Q21.8 Other congenital malformations of cardiac septa
Q21.9 Congenital malformation of cardiac septum, unspecified
Q22 Congenital malformations of pulmonary and tricuspid valves
Q22.0 Pulmonary valve atresia
Q22.1 Congenital pulmonary valve stenosis
Q22.2 Congenital pulmonary valve insufficiency
Q22.3 Other congenital malformations of pulmonary valve
Q22.4 Congenital tricuspid stenosis
Q22.5 Ebstein's anomaly
Q22.6 Hypoplastic right heart syndrome
Q22.8 Other congenital malformations of tricuspid valve
Q22.9 Congenital malformation of tricuspid valve, unspecified
Q23 Congenital malformations of aortic and mitral valves
Q23.0 Congenital stenosis of aortic valve
Q23.1 Congenital insufficiency of aortic valve
Q23.2 Congenital mitral stenosis
Q23.3 Congenital mitral insufficiency
Q23.4 Hypoplastic left heart syndrome
Q23.8 Other congenital malformations of aortic and mitral valves
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
Q24 Other congenital malformations of heart
Q24.0 Dextrocardia
Q24.1 Laevocardia
Q24.2 Cor triatriatum
Q24.3 Pulmonary infundibular stenosis
Q24.4 Congenital subaortic stenosis
Q24.5 Malformation of coronary vessels
Q24.6 Congenital heart block
Q24.8 Other specified congenital malformations of heart
Q24.9 Congenital malformation of heart, unspecified
Q25 Congenital malformations of great arteries
Q25.0 Patent ductus arteriosus
Q25.1 Coarctation of aorta
Q25.2 Atresia of aorta
Q25.3 Stenosis of aorta
Q25.4 Other congenital malformations of aorta
Q25.5 Atresia of pulmonary artery
Q25.6 Stenosis of pulmonary artery
Q25.7 Other congenital malformations of pulmonary artery
Q25.8 Other congenital malformations of great arteries
Q25.9 Congenital malformation of great arteries, unspecified
Q26 Congenital malformations of great veins
Q26.0 Congenital stenosis of vena cava
Q26.1 Persistent left superior vena cava
Q26.2 Total anomalous pulmonary venous connection
Q26.3 Partial anomalous pulmonary venous connection
Q26.4 Anomalous pulmonary venous connection, unspecified
Q26.5 Anomalous portal venous connection
Q26.6 Portal vein-hepatic artery fistula
Q26.8 Other congenital malformations of great veins
Q26.9 Congenital malformation of great vein, unspecified
Q27 Other congenital malformations of peripheral vascular system
Q27.0 Congenital absence and hypoplasia of umbilical artery
Q27.1 Congenital renal artery stenosis
Q27.2 Other congenital malformations of renal artery
Q27.3 Peripheral arteriovenous malformation
Q27.4 Congenital phlebectasia
Q27.8 Other specified congenital malformations of peripheral vascular system
Q27.9 Congenital malformation of peripheral vascular system, unspecified
Q28 Other congenital malformations of circulatory system
Q28.0 Arteriovenous malformation of precerebral vessels
Q28.1 Other malformations of precerebral vessels
Q28.2 Arteriovenous malformation of cerebral vessels
Q28.3 Other malformations of cerebral vessels
Q28.8 Other specified congenital malformations of circulatory system
Q28.9 Congenital malformation of circulatory system, unspecified
Q30 Congenital malformations of nose
Q30.0 Choanal atresia
Q30.1 Agenesis and underdevelopment of nose
Q30.2 Fissured, notched and cleft nose
Q30.3 Congenital perforated nasal septum
Q30.8 Other congenital malformations of nose
Q30.9 Congenital malformation of nose, unspecified
Q31 Congenital malformations of larynx
Q31.0 Web of larynx
Q31.1 Congenital subglottic stenosis
Q31.2 Laryngeal hypoplasia
Q31.3 Laryngocele
Q31.5 Congenital laryngomalacia
Q31.8 Other congenital malformations of larynx
Q31.9 Congenital malformation of larynx, unspecified
Q32 Congenital malformations of trachea and bronchus
Q32.0 Congenital tracheomalacia
Q32.1 Other congenital malformations of trachea
Q32.2 Congenital bronchomalacia
Q32.3 Congenital stenosis of bronchus
Q32.4 Other congenital malformations of bronchus
Q33 Congenital malformations of lung
Q33.0 Congenital cystic lung
Q33.1 Accessory lobe of lung
Q33.2 Sequestration of lung
Q33.3 Agenesis of lung
Q33.4 Congenital bronchiectasis
Q33.5 Ectopic tissue in lung
Q33.6 Hypoplasia and dysplasia of lung
Q33.8 Other congenital malformations of lung
Q33.9 Congenital malformation of lung, unspecified
Q34 Other congenital malformations of respiratory system
Q34.0 Anomaly of pleura
Q34.1 Congenital cyst of mediastinum
Q34.8 Other specified congenital malformations of respiratory system
Q34.9 Congenital malformation of respiratory system, unspecified
Q35 Cleft palate
Q35.1 Cleft hard palate
Q35.3 Cleft soft palate
Q35.5 Cleft hard palate with cleft soft palate
Q35.7 Cleft uvula
Q35.9 Cleft palate, unspecified
Q36 Cleft lip
Q36.0 Cleft lip, bilateral
Q36.1 Cleft lip, median
Q36.9 Cleft lip, unilateral
Q37 Cleft palate with cleft lip
Q37.0 Cleft hard palate with bilateral cleft lip
Q37.1 Cleft hard palate with unilateral cleft lip
Q37.2 Cleft soft palate with bilateral cleft lip
Q37.3 Cleft soft palate with unilateral cleft lip
Q37.4 Cleft hard and soft palate with bilateral cleft lip
Q37.5 Cleft hard and soft palate with unilateral cleft lip
Q37.8 Unspecified cleft palate with bilateral cleft lip
Q37.9 Unspecified cleft palate with unilateral cleft lip
Q38 Other congenital malformations of tongue, mouth and pharynx
Q38.0 Congenital malformations of lips, not elsewhere classified
Q38.1 Ankyloglossia
Q38.2 Macroglossia
Q38.3 Other congenital malformations of tongue
Q38.4 Congenital malformations of salivary glands and ducts
Q38.5 Congenital malformations of palate, not elsewhere classified
Q38.6 Other congenital malformations of mouth
Q38.7 Pharyngeal pouch
Q38.8 Other congenital malformations of pharynx
Q39 Congenital malformations of oesophagus
Q39.0 Atresia of oesophagus without fistula
Q39.1 Atresia of oesophagus with tracheo-oesophageal fistula
Q39.2 Congenital tracheo-oesophageal fistula without atresia
Q39.3 Congenital stenosis and stricture of oesophagus
Q39.4 Oesophageal web
Q39.5 Congenital dilatation of oesophagus
Q39.6 Diverticulum of oesophagus
Q39.8 Other congenital malformations of oesophagus
Q39.9 Congenital malformation of oesophagus, unspecified
Q40 Other congenital malformations of upper alimentary tract
Q40.0 Congenital hypertrophic pyloric stenosis
Q40.1 Congenital hiatus hernia
Q40.2 Other specified congenital malformations of stomach
Q40.3 Congenital malformation of stomach, unspecified
Q40.8 Other specified congenital malformations of upper alimentary tract
Q40.9 Congenital malformation of upper alimentary tract, unspecified
Q41 Congenital absence, atresia and stenosis of small intestine
Q41.0 Congenital absence, atresia and stenosis of duodenum
Q41.1 Congenital absence, atresia and stenosis of jejunum
Q41.2 Congenital absence, atresia and stenosis of ileum
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
Q42 Congenital absence, atresia and stenosis of large intestine
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
Q43 Other congenital malformations of intestine
Q43.0 Meckel's diverticulum
Q43.1 Hirschsprung's disease
Q43.2 Other congenital functional disorders of colon
Q43.3 Congenital malformations of intestinal fixation
Q43.4 Duplication of intestine
Q43.5 Ectopic anus
Q43.6 Congenital fistula of rectum and anus
Q43.7 Persistent cloaca
Q43.8 Other specified congenital malformations of intestine
Q43.9 Congenital malformation of intestine, unspecified
Q44 Congenital malformations of gallbladder, bile ducts and liver
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
Q44.1 Other congenital malformations of gallbladder
Q44.2 Atresia of bile ducts
Q44.3 Congenital stenosis and stricture of bile ducts
Q44.4 Choledochal cyst
Q44.5 Other congenital malformations of bile ducts
Q44.6 Cystic disease of liver
Q44.7 Other congenital malformations of liver
Q45 Other congenital malformations of digestive system
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
Q45.1 Annular pancreas
Q45.2 Congenital pancreatic cyst
Q45.3 Other congenital malformations of pancreas and pancreatic duct
Q45.8 Other specified congenital malformations of digestive system
Q45.9 Congenital malformation of digestive system, unspecified
Q50 Congenital malformations of ovaries, fallopian tubes and broad ligaments
Q50.0 Congenital absence of ovary
Q50.1 Developmental ovarian cyst
Q50.2 Congenital torsion of ovary
Q50.3 Other congenital malformations of ovary
Q50.4 Embryonic cyst of fallopian tube
Q50.5 Embryonic cyst of broad ligament
Q50.6 Other congenital malformations of fallopian tube and broad ligament
Q51 Congenital malformations of uterus and cervix
Q51.0 Agenesis and aplasia of uterus
Q51.1 Doubling of uterus with doubling of cervix and vagina
Q51.2 Other doubling of uterus
Q51.3 Bicornate uterus
Q51.4 Unicornate uterus
Q51.5 Agenesis and aplasia of cervix
Q51.6 Embryonic cyst of cervix
Q51.7 Congenital fistulae between uterus and digestive and urinary tracts
Q51.8 Other congenital malformations of uterus and cervix
Q51.9 Congenital malformation of uterus and cervix, unspecified
Q52 Other congenital malformations of female genitalia
Q52.0 Congenital absence of vagina
Q52.1 Doubling of vagina
Q52.2 Congenital rectovaginal fistula
Q52.3 Imperforate hymen
Q52.4 Other congenital malformations of vagina
Q52.5 Fusion of labia
Q52.6 Congenital malformation of clitoris
Q52.7 Other congenital malformations of vulva
Q52.8 Other specified congenital malformations of female genitalia
Q52.9 Congenital malformation of female genitalia, unspecified
Q53 Undescended testicle
Q53.0 Ectopic testis
Q53.1 Undescended testicle, unilateral
Q53.2 Undescended testicle, bilateral
Q53.9 Undescended testicle, unspecified
Q54 Hypospadias
Q54.0 Hypospadias, balanic
Q54.1 Hypospadias, penile
Q54.2 Hypospadias, penoscrotal
Q54.3 Hypospadias, perineal
Q54.4 Congenital chordee
Q54.8 Other hypospadias
Q54.9 Hypospadias, unspecified
Q55 Other congenital malformations of male genital organs
Q55.0 Absence and aplasia of testis
Q55.1 Hypoplasia of testis and scrotum
Q55.2 Other congenital malformations of testis and scrotum
Q55.3 Atresia of vas deferens
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
Q55.5 Congenital absence and aplasia of penis
Q55.6 Other congenital malformations of penis
Q55.8 Other specified congenital malformations of male genital organs
Q55.9 Congenital malformation of male genital organ, unspecified
Q56 Indeterminate sex and pseudohermaphroditism
Q56.0 Hermaphroditism, not elsewhere classified
Q56.1 Male pseudohermaphroditism, not elsewhere classified
Q56.2 Female pseudohermaphroditism, not elsewhere classified
Q56.3 Pseudohermaphroditism, unspecified
Q56.4 Indeterminate sex, unspecified
Q60 Renal agenesis and other reduction defects of kidney
Q60.0 Renal agenesis, unilateral
Q60.1 Renal agenesis, bilateral
Q60.2 Renal agenesis, unspecified
Q60.3 Renal hypoplasia, unilateral
Q60.4 Renal hypoplasia, bilateral
Q60.5 Renal hypoplasia, unspecified
Q60.6 Potter's syndrome
Q61 Cystic kidney disease
Q61.0 Congenital single renal cyst
Q61.1 Polycystic kidney, autosomal recessive
Q61.2 Polycystic kidney, autosomal dominant
Q61.3 Polycystic kidney, unspecified
Q61.4 Renal dysplasia
Q61.5 Medullary cystic kidney
Q61.8 Other cystic kidney diseases
Q61.9 Cystic kidney disease, unspecified
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
Q62.0 Congenital hydronephrosis
Q62.1 Atresia and stenosis of ureter
Q62.2 Congenital megaloureter
Q62.3 Other obstructive defects of renal pelvis and ureter
Q62.4 Agenesis of ureter
Q62.5 Duplication of ureter
Q62.6 Malposition of ureter
Q62.7 Congenital vesico-uretero-renal reflux
Q62.8 Other congenital malformations of ureter
Q63 Other congenital malformations of kidney
Q63.0 Accessory kidney
Q63.1 Lobulated, fused and horseshoe kidney
Q63.2 Ectopic kidney
Q63.3 Hyperplastic and giant kidney
Q63.8 Other specified congenital malformations of kidney
Q63.9 Congenital malformation of kidney, unspecified
Q64 Other congenital malformations of urinary system
Q64.0 Epispadias
Q64.1 Exstrophy of urinary bladder
Q64.2 Congenital posterior urethral valves
Q64.3 Other atresia and stenosis of urethra and bladder neck
Q64.4 Malformation of urachus
Q64.5 Congenital absence of bladder and urethra
Q64.6 Congenital diverticulum of bladder
Q64.7 Other congenital malformations of bladder and urethra
Q64.8 Other specified congenital malformations of urinary system
Q64.9 Congenital malformation of urinary system, unspecified
Q65 Congenital deformities of hip
Q65.0 Congenital dislocation of hip, unilateral
Q65.1 Congenital dislocation of hip, bilateral
Q65.2 Congenital dislocation of hip, unspecified
Q65.3 Congenital subluxation of hip, unilateral
Q65.4 Congenital subluxation of hip, bilateral
Q65.5 Congenital subluxation of hip, unspecified
Q65.6 Unstable hip
Q65.8 Other congenital deformities of hip
Q65.9 Congenital deformity of hip, unspecified
Q66 Congenital deformities of feet
Q66.0 Talipes equinovarus
Q66.1 Talipes calcaneovarus
Q66.2 Metatarsus varus
Q66.3 Other congenital varus deformities of feet
Q66.4 Talipes calcaneovalgus
Q66.5 Congenital pes planus
Q66.6 Other congenital valgus deformities of feet
Q66.7 Pes cavus
Q66.8 Other congenital deformities of feet
Q66.9 Congenital deformity of feet, unspecified
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
Q67.0 Facial asymmetry
Q67.1 Compression facies
Q67.2 Dolichocephaly
Q67.3 Plagiocephaly
Q67.4 Other congenital deformities of skull, face and jaw
Q67.5 Congenital deformity of spine
Q67.6 Pectus excavatum
Q67.7 Pectus carinatum
Q67.8 Other congenital deformities of chest
Q68 Other congenital musculoskeletal deformities
Q68.0 Congenital deformity of sternocleidomastoid muscle
Q68.1 Congenital deformity of hand
Q68.2 Congenital deformity of knee
Q68.3 Congenital bowing of femur
Q68.4 Congenital bowing of tibia and fibula
Q68.5 Congenital bowing of long bones of leg, unspecified
Q68.8 Other specified congenital musculoskeletal deformities
Q69 Polydactyly
Q69.0 Accessory finger(s)
Q69.1 Accessory thumb(s)
Q69.2 Accessory toe(s)
Q69.9 Polydactyly, unspecified
Q70 Syndactyly
Q70.0 Fused fingers
Q70.1 Webbed fingers
Q70.2 Fused toes
Q70.3 Webbed toes
Q70.4 Polysyndactyly
Q70.9 Syndactyly, unspecified
Q71 Reduction defects of upper limb
Q71.0 Congenital complete absence of upper limb(s)
Q71.1 Congenital absence of upper arm and forearm with hand present
Q71.2 Congenital absence of both forearm and hand
Q71.3 Congenital absence of hand and finger(s)
Q71.4 Longitudinal reduction defect of radius
Q71.5 Longitudinal reduction defect of ulna
Q71.6 Lobster-claw hand
Q71.8 Other reduction defects of upper limb(s)
Q71.9 Reduction defect of upper limb, unspecified
Q72 Reduction defects of lower limb
Q72.0 Congenital complete absence of lower limb(s)
Q72.1 Congenital absence of thigh and lower leg with foot present
Q72.2 Congenital absence of both lower leg and foot
Q72.3 Congenital absence of foot and toe(s)
Q72.4 Longitudinal reduction defect of femur
Q72.5 Longitudinal reduction defect of tibia
Q72.6 Longitudinal reduction defect of fibula
Q72.7 Split foot
Q72.8 Other reduction defects of lower limb(s)
Q72.9 Reduction defect of lower limb, unspecified
Q73 Reduction defects of unspecified limb
Q73.0 Congenital absence of unspecified limb(s)
Q73.1 Phocomelia, unspecified limb(s)
Q73.8 Other reduction defects of unspecified limb(s)
Q74 Other congenital malformations of limb(s)
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
Q74.1 Congenital malformation of knee
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
Q74.3 Arthrogryposis multiplex congenita
Q74.8 Other specified congenital malformations of limb(s)
Q74.9 Unspecified congenital malformation of limb(s)
Q75 Other congenital malformations of skull and face bones
Q75.0 Craniosynostosis
Q75.1 Craniofacial dysostosis
Q75.2 Hypertelorism
Q75.3 Macrocephaly
Q75.4 Mandibulofacial dysostosis
Q75.5 Oculomandibular dysostosis
Q75.8 Other specified congenital malformations of skull and face bones
Q75.9 Congenital malformation of skull and face bones, unspecified
Q76 Congenital malformations of spine and bony thorax
Q76.0 Spina bifida occulta
Q76.1 Klippel-Feil syndrome
Q76.2 Congenital spondylolisthesis
Q76.3 Congenital scoliosis due to congenital bony malformation
Q76.4 Other congenital malformations of spine, not associated with scoliosis
Q76.5 Cervical rib
Q76.6 Other congenital malformations of ribs
Q76.7 Congenital malformation of sternum
Q76.8 Other congenital malformations of bony thorax
Q76.9 Congenital malformation of bony thorax, unspecified
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
Q77.0 Achondrogenesis
Q77.1 Thanatophoric short stature
Q77.2 Short rib syndrome
Q77.3 Chondrodysplasia punctata
Q77.4 Achondroplasia
Q77.5 Dystrophic dysplasia
Q77.6 Chondroectodermal dysplasia
Q77.7 Spondyloepiphyseal dysplasia
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
Q78 Other osteochondrodysplasias
Q78.0 Osteogenesis imperfecta
Q78.1 Polyostotic fibrous dysplasia
Q78.2 Osteopetrosis
Q78.3 Progressive diaphyseal dysplasia
Q78.4 Enchondromatosis
Q78.5 Metaphyseal dysplasia
Q78.6 Multiple congenital exostoses
Q78.8 Other specified osteochondrodysplasias
Q78.9 Osteochondrodysplasia, unspecified
Q79 Congenital malformations of the musculoskeletal system, not elsewhere classified
Q79.0 Congenital diaphragmatic hernia
Q79.1 Other congenital malformations of diaphragm
Q79.2 Exomphalos
Q79.3 Gastroschisis
Q79.4 Prune belly syndrome
Q79.5 Other congenital malformations of abdominal wall
Q79.6 Ehlers-Danlos syndrome
Q79.8 Other congenital malformations of musculoskeletal system
Q79.9 Congenital malformation of musculoskeletal system, unspecified
Q80 Congenital ichthyosis
Q80.0 Ichthyosis vulgaris
Q80.1 X-linked ichthyosis
Q80.2 Lamellar ichthyosis
Q80.3 Congenital bullous ichthyosiform erythroderma
Q80.4 Harlequin fetus
Q80.8 Other congenital ichthyosis
Q80.9 Congenital ichthyosis, unspecified
Q81 Epidermolysis bullosa
Q81.0 Epidermolysis bullosa simplex
Q81.1 Epidermolysis bullosa letalis
Q81.2 Epidermolysis bullosa dystrophica
Q81.8 Other epidermolysis bullosa
Q81.9 Epidermolysis bullosa, unspecified
Q82 Other congenital malformations of skin
Q82.0 Hereditary lymphoedema
Q82.1 Xeroderma pigmentosum
Q82.2 Mastocytosis
Q82.3 Incontinentia pigmenti
Q82.4 Ectodermal dysplasia (anhidrotic)
Q82.5 Congenital non-neoplastic naevus
Q82.8 Other specified congenital malformations of skin
Q82.9 Congenital malformation of skin, unspecified
Q83 Congenital malformations of breast
Q83.0 Congenital absence of breast with absent nipple
Q83.1 Accessory breast
Q83.2 Absent nipple
Q83.3 Accessory nipple
Q83.8 Other congenital malformations of breast
Q83.9 Congenital malformation of breast, unspecified
Q84 Other congenital malformations of integument
Q84.0 Congenital alopecia
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified
Q84.2 Other congenital malformations of hair
Q84.3 Anonychia
Q84.4 Congenital leukonychia
Q84.5 Enlarged and hypertrophic nails
Q84.6 Other congenital malformations of nails
Q84.8 Other specified congenital malformations of integument
Q84.9 Congenital malformation of integument, unspecified
Q85 Phakomatoses, not elsewhere classified
Q85.0 Neurofibromatosis (nonmalignant)
Q85.1 Tuberous sclerosis
Q85.8 Other phakomatoses, not elsewhere classified
Q85.9 Phakomatosis, unspecified
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
Q86.0 Fetal alcohol syndrome (dysmorphic)
Q86.1 Fetal hydantoin syndrome
Q86.2 Dysmorphism due to warfarin
Q86.8 Other congenital malformation syndromes due to known exogenous causes
Q87 Other specified congenital malformation syndromes affecting multiple systems
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
Q87.1 Congenital malformation syndromes predominantly associated with short stature
Q87.2 Congenital malformation syndromes predominantly involving limbs
Q87.3 Congenital malformation syndromes involving early overgrowth
Q87.4 Marfan's syndrome
Q87.5 Other congenital malformation syndromes with other skeletal changes
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
Q89 Other congenital malformations, not elsewhere classified
Q89.0 Congenital malformations of spleen
Q89.1 Congenital malformations of adrenal gland
Q89.2 Congenital malformations of other endocrine glands
Q89.3 Situs inversus
Q89.4 Conjoined twins
Q89.7 Multiple congenital malformations, not elsewhere classified
Q89.8 Other specified congenital malformations
Q89.9 Congenital malformation, unspecified
Q90 Down's syndrome
Q90.0 Trisomy 21, meiotic nondisjunction
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
Q90.2 Trisomy 21, translocation
Q90.9 Down's syndrome, unspecified
Q91 Edwards' syndrome and Patau's syndrome
Q91.0 Trisomy 18, meiotic nondisjunction
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
Q91.2 Trisomy 18, translocation
Q91.3 Edwards' syndrome, unspecified
Q91.4 Trisomy 13, meiotic nondisjunction
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
Q91.6 Trisomy 13, translocation
Q91.7 Patau's syndrome, unspecified
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
Q92.2 Major partial trisomy
Q92.3 Minor partial trisomy
Q92.4 Duplications seen only at prometaphase
Q92.5 Duplications with other complex rearrangements
Q92.6 Extra marker chromosomes
Q92.7 Triploidy and polyploidy
Q92.8 Other specified trisomies and partial trisomies of autosomes
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
Q93.2 Chromosome replaced with ring or dicentric
Q93.3 Deletion of short arm of chromosome 4
Q93.4 Deletion of short arm of chromosome 5
Q93.5 Other deletions of part of a chromosome
Q93.6 Deletions seen only at prometaphase
Q93.7 Deletions with other complex rearrangements
Q93.8 Other deletions from the autosomes
Q93.9 Deletion from autosomes, unspecified
Q95 Balanced rearrangements and structural markers, not elsewhere classified
Q95.0 Balanced translocation and insertion in normal individual
Q95.1 Chromosome inversion in normal individual
Q95.2 Balanced autosomal rearrangement in abnormal individual
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
Q95.4 Individuals with marker heterochromatin
Q95.5 Individuals with autosomal fragile site
Q95.8 Other balanced rearrangements and structural markers
Q95.9 Balanced rearrangement and structural marker, unspecified
Q96 Turner's syndrome
Q96.0 Karyotype 45,X
Q96.1 Karyotype 46,X iso (Xq)
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
Q96.3 Mosaicism, 45,X/46,XX or XY
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
Q96.8 Other variants of Turner's syndrome
Q96.9 Turner's syndrome, unspecified
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
Q97.0 Karyotype 47,XXX
Q97.1 Female with more than three X chromosomes
Q97.2 Mosaicism, lines with various numbers of X chromosomes
Q97.3 Female with 46,XY karyotype
Q97.8 Other specified sex chromosome abnormalities, female phenotype
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
Q98.0 Klinefelter's syndrome karyotype 47,XXY
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
Q98.3 Other male with 46,XX karyotype
Q98.4 Klinefelter's syndrome, unspecified
Q98.5 Karyotype 47,XYY
Q98.6 Male with structurally abnormal sex chromosome
Q98.7 Male with sex chromosome mosaicism
Q98.8 Other specified sex chromosome abnormalities, male phenotype
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
Q99 Other chromosome abnormalities, not elsewhere classified
Q99.0 Chimera 46,XX/46,XY
Q99.1 46,XX true hermaphrodite
Q99.2 Fragile X chromosome
Q99.8 Other specified chromosome abnormalities
Q99.9 Chromosomal abnormality, unspecified

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