Sabtu, 10 Oktober 2009

Postingan iseng tanpa tujuan

ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities
(Q00-Q07) nervous system
• (Q00.) Anencephaly and similar malformations
o (Q00.0) Anencephaly
 Acephaly
o (Q00.1) Craniorachischisis
o (Q00.2) Iniencephaly
• (Q01.) Encephalocele
• (Q02.) Microcephaly
• (Q03.) Congenital hydrocephalus
o (Q03.0) Malformations of aqueduct of Sylvius
o (Q03.1) Atresia of foramina of Magendie and Luschka
 Dandy-Walker syndrome
o (Q03.8) Other congenital hydrocephalus
o (Q03.9) Congenital hydrocephalus, unspecified
• (Q04.) Other congenital malformations of brain
o (Q04.0) Congenital malformations of corpus callosum
o (Q04.1) Arhinencephaly
o (Q04.2) Holoprosencephaly
o (Q04.3) Other reduction deformities of brain
 Agyria and Lissencephaly (EUROCAT Q04.33)
 Microgyria and Pachygyria (EUROCAT Q04.34)
 Hydranencephaly (EUROCAT Q04.35)
o (Q04.4) Septo-optic dysplasia
o (Q04.5) Megalencephaly
o (Q04.6) Congenital cerebral cysts
 Porencephaly
 Schizencephaly
o (Q04.8) Other specified congenital malformations of brain
o (Q04.9) Congenital malformation of brain, unspecified
• (Q05.) Spina bifida
• (Q06.) Other congenital malformations of spinal cord
o (Q06.0) Amyelia
o (Q06.1) Hypoplasia and dysplasia of spinal cord
o (Q06.2) Diastematomyelia
o (Q06.3) Other congenital cauda equina malformations
o (Q06.4) Hydromyelia
o (Q06.8) Other specified congenital malformations of spinal cord
o (Q06.9) Congenital malformation of spinal cord, unspecified
• (Q07.) Other congenital malformations of nervous system
o (Q07.0) Arnold-Chiari syndrome
o (Q07.8) Other specified congenital malformations of nervous system
o (Q07.9) Congenital malformation of nervous system, unspecified
(Q10-Q18) eye, ear, face and neck
• (Q10.) Congenital malformations of eyelid, lacrimal apparatus and orbit
o (Q10.0) Congenital ptosis
o (Q10.1) Congenital ectropion
o (Q10.2) Congenital entropion
o (Q10.3) Other congenital malformations of eyelid
o (Q10.4) Absence and agenesis of lacrimal apparatus
o (Q10.5) Congenital stenosis and stricture of lacrimal duct
o (Q10.6) Other congenital malformations of lacrimal apparatus
o (Q10.7) Congenital malformation of orbit
• (Q11.) Anophthalmos, microphthalmos and macrophthalmos
o (Q11.0) Cystic eyeball
o (Q11.1) Other anophthalmos
o (Q11.2) Microphthalmos
o (Q11.3) Macrophthalmos
• (Q12.) Congenital lens malformations
o (Q12.0) Congenital cataract
o (Q12.1) Congenital displaced lens
o (Q12.2) Coloboma of lens
o (Q12.3) Congenital aphakia
o (Q12.4) Spherophakia
o (Q12.8) Other congenital lens malformations
o (Q12.9) Congenital lens malformation, unspecified
• (Q13.) Congenital malformations of anterior segment of eye
o (Q13.1) Absence of iris
 Aniridia
• (Q14.) Congenital malformations of posterior segment of eye
• (Q15.) Other congenital malformations of eye
o (Q15.0) Congenital glaucoma
 Buphthalmos
 Glaucoma of newborn
 Hydrophthalmos
 Keratoglobus, congenital, with glaucoma
 Macrocornea with glaucoma
 Macrophthalmos in congenital glaucoma
 Megalocornea with glaucoma
• (Q16.) Congenital malformations of ear causing impairment of hearing
• (Q17.) Other congenital malformations of ear
o (Q17.0) Accessory auricle
o (Q17.1) Macrotia
o (Q17.2) Microtia
o (Q17.3) Other misshapen ear
o (Q17.4) Misplaced ear
o (Q17.5) Prominent ear
o (Q17.8) Other specified congenital malformations of ear
o (Q17.9) Congenital malformation of ear, unspecified
• (Q18.) Other congenital malformations of face and neck
o (Q18.0) Sinus, fistula and cyst of branchial cleft
o (Q18.1) Preauricular sinus and cyst
o (Q18.2) Other branchial cleft malformations
 Otocephaly
o (Q18.3) Webbing of neck
o (Q18.4) Macrostomia
o (Q18.5) Microstomia
o (Q18.6) Macrocheilia
o (Q18.7) Microcheilia
o (Q18.8) Other specified congenital malformations of face and neck
o (Q18.9) Congenital malformation of face and neck, unspecified
(Q20-Q28) circulatory system
• (Q20.) Congenital malformations of cardiac chambers and connections
o (Q20.0) Common arterial trunk
 Persistent truncus arteriosus
o (Q20.1) Double outlet right ventricle
 Taussig-Bing syndrome
o (Q20.2) Double outlet left ventricle
o (Q20.3) Discordant ventriculoarterial connection
 Dextrotransposition of aorta
 Transposition of great vessels (complete)
o (Q20.4) Double inlet ventricle
o (Q20.5) Discordant atrioventricular connection
 Corrected transposition
o (Q20.6) Isomerism of atrial appendages
• (Q21.) Congenital malformations of cardiac septa
o (Q21.0) Ventricular septal defect
o (Q21.1) Atrial septal defect
o (Q21.2) Atrioventricular septal defect
o (Q21.3) Tetralogy of Fallot
o (Q21.8) Other congenital malformations of cardiac septa
 Eisenmenger's syndrome
• (Q22.) Congenital malformations of pulmonary and tricuspid valves
o (Q22.0) Pulmonary valve atresia
o (Q22.1) Congenital pulmonary valve stenosis
o (Q22.2) Congenital pulmonary valve insufficiency
o (Q22.3) Other congenital malformations of pulmonary valve
o (Q22.4) Congenital tricuspid stenosis
 Tricuspid atresia
o (Q22.5) Ebstein's anomaly
o (Q22.6) Hypoplastic right heart syndrome
o (Q22.8) Other congenital malformations of tricuspid valve
o (Q22.9) Congenital malformation of tricuspid valve, unspecified
• (Q23.) Congenital malformations of aortic and mitral valves
o (Q23.0) Congenital stenosis of aortic valve
o (Q23.1) Congenital insufficiency of aortic valve
o (Q23.2) Congenital mitral stenosis
o (Q23.3) Congenital mitral insufficiency
o (Q23.4) Hypoplastic left heart syndrome
o (Q23.8) Other congenital malformations of aortic and mitral valves
o (Q23.9) Congenital malformation of aortic and mitral valves, unspecified
• (Q24.) Other congenital malformations of heart
o (Q24.0) Dextrocardia
o (Q24.1) Laevocardia
o (Q24.2) Cor triatriatum
o (Q24.3) Pulmonary infundibular stenosis
o (Q24.4) Congenital subaortic stenosis
o (Q24.5) Malformation of coronary vessels
o (Q24.6) Congenital heart block
o (Q24.8) Other specified congenital malformations of heart
o (Q24.9) Congenital malformation of heart, unspecified
• (Q25.) Congenital malformations of great arteries
o (Q25.0) Patent ductus arteriosus
o (Q25.1) Coarctation of aorta
o (Q25.2) Atresia of aorta
o (Q25.3) Stenosis of aorta
o (Q25.4) 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)
o (Q25.5) Atresia of pulmonary artery
o (Q25.6) Stenosis of pulmonary artery
o (Q25.7) Other congenital malformations of pulmonary artery
• (Q26.) Congenital malformations of great veins
o (Q26.0) Congenital stenosis of vena cava
o (Q26.1) Persistent left superior vena cava
o (Q26.2) Total anomalous pulmonary venous connection
o (Q26.3) Partial anomalous pulmonary venous connection
o (Q26.4) Anomalous pulmonary venous connection, unspecified
o (Q26.5) Anomalous portal venous connection
o (Q26.6) Portal vein-hepatic artery fistula
o (Q26.8) Other congenital malformations of great veins
 Scimitar syndrome
o (Q26.9) Congenital malformation of great vein, unspecified
• (Q27.) Other congenital malformations of peripheral vascular system
o (Q27.0) Congenital absence and hypoplasia of umbilical artery
o (Q27.1) Congenital renal artery stenosis
o (Q27.2) Other congenital malformations of renal artery
o (Q27.3) Peripheral arteriovenous malformation
o (Q27.4) Congenital phlebectasia
o (Q27.8) Other specified congenital malformations of peripheral vascular system
o (Q27.9) Congenital malformation of peripheral vascular system, unspecified
• (Q28.) Other congenital malformations of circulatory system
o (Q28.0) Arteriovenous malformation of precerebral vessels
o (Q28.1) Other malformations of precerebral vessels
o (Q28.2) Arteriovenous malformation of cerebral vessels
o (Q28.3) Other malformations of cerebral vessels
o (Q28.8) Other specified congenital malformations of circulatory system
o (Q28.9) Congenital malformation of circulatory system, unspecified
(Q30-Q34) respiratory system
• (Q30.) [[Congenital malformations of nose
o (Q30.0) Choanal atresia
o (Q30.1) Agenesis and underdevelopment of nose
o (Q30.2) Fissured, notched and cleft nose
o (Q30.3) Congenital perforated nasal septum
o (Q30.8) Other congenital malformations of nose
o (Q30.9) Congenital malformation of nose, unspecified
• (Q31.) Congenital malformations of larynx
o (Q31.0) Web of larynx
o (Q31.1) Congenital subglottic stenosis
o (Q31.2) Laryngeal hypoplasia
o (Q31.3) Laryngocele
o (Q31.5) Congenital laryngomalacia
o (Q31.8) Other congenital malformations of larynx
o (Q31.9) Congenital malformation of larynx, unspecified
• (Q32.) Congenital malformations of trachea and bronchus
o (Q32.0) Congenital tracheomalacia
o (Q32.1) Other congenital malformations of trachea
o (Q32.2) Congenital bronchomalacia
o (Q32.3) Congenital stenosis of bronchus
o (Q32.4) Other congenital malformations of bronchus
• (Q33.) Congenital malformations of lung
o (Q33.0) Congenital cystic lung
o (Q33.1) Accessory lobe of lung
o (Q33.2) Sequestration of lung
o (Q33.3) Agenesis of lung
o (Q33.4) Congenital bronchiectasis
o (Q33.5) Ectopic tissue in lung
o (Q33.6) Hypoplasia and dysplasia of lung
o (Q33.8) Other congenital malformations of lung
o (Q33.9) Congenital malformation of lung, unspecified
• (Q34.) Other congenital malformations of respiratory system
o (Q34.0) Anomaly of pleura
o (Q34.1) Congenital cyst of mediastinum
o (Q34.8) Other specified congenital malformations of respiratory system
o (Q34.9) Congenital malformation of respiratory system, unspecified
(Q35-Q45) digestive system
• (Q35.) Cleft palate
• (Q36.) Cleft lip
• (Q37.) Cleft palate with cleft lip
• (Q38.) Other congenital malformations of tongue, mouth and pharynx
o (Q38.0) Congenital malformations of lips, not elsewhere classified
 Van der Woude's syndrome
o (Q38.1) Ankyloglossia
o (Q38.2) Macroglossia
o (Q38.3) Other congenital malformations of tongue
o (Q38.4) Congenital malformations of salivary glands and ducts
o (Q38.5) Congenital malformations of palate, not elsewhere classified
o (Q38.6) Other congenital malformations of mouth
o (Q38.7) Pharyngeal pouch
• (Q39.) Congenital malformations of oesophagus
o (Q39.0) Atresia of oesophagus without fistula
o (Q39.1) Atresia of oesophagus with tracheo-oesophageal fistula
o (Q39.2) Congenital tracheo-oesophageal fistula without atresia
o (Q39.3) Congenital stenosis and stricture of oesophagus
o (Q39.4) Oesophageal web
o (Q39.5) Congenital dilatation of oesophagus
o (Q39.6) Diverticulum of oesophagus
o (Q39.8) Other congenital malformations of oesophagus
o (Q39.9) Congenital malformation of oesophagus, unspecified
• (Q40.) Other congenital malformations of upper alimentary tract
o (Q40.0) Congenital hypertrophic pyloric stenosis
o (Q40.1) Congenital hiatus hernia
• (Q41.) Congenital absence, atresia and stenosis of small intestine
o (Q41.0) Congenital absence, atresia and stenosis of duodenum
o (Q41.1) Congenital absence, atresia and stenosis of jejunum
o (Q41.2) Congenital absence, atresia and stenosis of ileum
o (Q41.8) Congenital absence, atresia and stenosis of other specified parts of small intestine
o (Q41.9) Congenital absence, atresia and stenosis of small intestine, part unspecified
• (Q42.) Congenital absence, atresia and stenosis of large intestine
o (Q42.0) Congenital absence, atresia and stenosis of rectum with fistula
o (Q42.1) Congenital absence, atresia and stenosis of rectum without fistula
 Imperforate rectum
o (Q42.2) Congenital absence, atresia and stenosis of anus with fistula
o (Q42.3) Congenital absence, atresia and stenosis of anus without fistula
 Imperforate anus
o (Q42.8) Congenital absence, atresia and stenosis of other parts of large intestine
o (Q42.9) Congenital absence, atresia and stenosis of large intestine, part unspecified
• (Q43.) Other congenital malformations of intestine
o (Q43.0) Meckel's diverticulum
o (Q43.1) Hirschsprung's disease
o (Q43.2) Other congenital functional disorders of colon
o (Q43.3) Congenital malformations of intestinal fixation
o (Q43.4) Duplication of intestine
o (Q43.5) Ectopic anus
o (Q43.6) Congenital fistula of rectum and anus
o (Q43.7) Persistent cloaca
o (Q43.8) Other specified congenital malformations of intestine
• (Q44.) Congenital malformations of gallbladder, bile ducts and liver
o (Q44.0) Agenesis, aplasia and hypoplasia of gallbladder
o (Q44.1) Other congenital malformations of gallbladder
o (Q44.2) Atresia of bile ducts
o (Q44.3) Congenital stenosis and stricture of bile ducts
o (Q44.4) Choledochal cyst
o (Q44.5) Other congenital malformations of bile ducts
o (Q44.6) Cystic disease of liver
o (Q44.7) Other congenital malformations of liver
 Accessory liver
 Alagille's syndrome
• (Q45.) Other congenital malformations of digestive system
o (Q45.0) Agenesis, aplasia and hypoplasia of pancreas
o (Q45.1) Annular pancreas
o (Q45.2) Congenital pancreatic cyst
o (Q45.3) Other congenital malformations of pancreas and pancreatic duct
o (Q45.8) Other specified congenital malformations of digestive system
o (Q45.9) Congenital malformation of digestive system, unspecified]]
(Q50-Q56) genital organs
• (Q50.) Congenital malformations of ovaries, fallopian tubes and broad ligaments
• (Q51.) Congenital malformations of uterus and cervix
o (Q51.0) Agenesis and aplasia of uterus
o (Q51.1) Doubling of uterus with doubling of cervix and vagina
o (Q51.2) Other doubling of uterus
o (Q51.3) Bicornate uterus
o (Q51.4) Unicornate uterus
o (Q51.5) Agenesis and aplasia of cervix
o (Q51.6) Embryonic cyst of cervix
o (Q51.7) Congenital fistulae between uterus and digestive and urinary tracts
o (Q51.8) Other congenital malformations of uterus and cervix
o (Q51.9) Congenital malformation of uterus and cervix, unspecified
• (Q52.) Other congenital malformations of female genitalia
o (Q52.0) Congenital absence of vagina
o (Q52.1) Doubling of vagina
o (Q52.2) Congenital rectovaginal fistula
o (Q52.3) Imperforate hymen
o (Q52.4) Other congenital malformations of vagina
o (Q52.5) Fusion of labia
o (Q52.6) Congenital malformation of clitoris
o (Q52.7) Other congenital malformations of vulva
o (Q52.8) Other specified congenital malformations of female genitalia
o (Q52.9) Congenital malformation of female genitalia, unspecified
• (Q53.) Undescended testicle
• (Q54.) Hypospadias
o (Q54.0) Hypospadias, balanic
o (Q54.1) Hypospadias, penile
o (Q54.2) Hypospadias, penoscrotal
o (Q54.3) Hypospadias, perineal
o (Q54.4) Congenital chordee
o (Q54.8) Other hypospadias
o (Q54.9) Hypospadias, unspecified
• (Q55.) Other congenital malformations of male genital organs
o (Q55.0) Absence and aplasia of testis
 Monorchism
o (Q55.1) Hypoplasia of testis and scrotum
o (Q55.2) Other congenital malformations of testis and scrotum
o (Q55.3) Atresia of vas deferens
o (Q55.4) Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
o (Q55.5) Congenital absence and aplasia of penis
o (Q55.6) Other congenital malformations of penis
o (Q55.8) Other specified congenital malformations of male genital organs
o (Q55.9) Congenital malformation of male genital organ, unspecified
• (Q56.) Indeterminate sex and pseudohermaphroditism
o (Q56.0) Hermaphroditism, not elsewhere classified
o (Q56.1) Male pseudohermaphroditism, not elsewhere classified
o (Q56.2) Female pseudohermaphroditism, not elsewhere classified
o (Q56.3) Pseudohermaphroditism, unspecified
o (Q56.4) Indeterminate sex, unspecified
(Q60-Q64) urinary system
• (Q60.) Renal agenesis and other reduction defects of kidney
o (Q60.0) Renal agenesis, unilateral
o (Q60.1) Renal agenesis, bilateral
o (Q60.2) Renal agenesis, unspecified
o (Q60.3) Renal hypoplasia, unilateral
o (Q60.4) Renal hypoplasia, bilateral
o (Q60.6) Renal hypoplasia, unspecified
o (Q60.7) Potter's syndrome
• (Q61.) Cystic kidney disease
• (Q62.) Congenital obstructive defects of renal pelvis and congenital malformations of ureter
• (Q63.) Other congenital malformations of kidney
o (Q63.0) Accessory kidney
o (Q63.1) Lobulated, fused and horseshoe kidney
o (Q63.2) Ectopic kidney
o (Q63.3) Hyperplastic and giant kidney
o (Q63.8) Other specified congenital malformations of kidney
o (Q63.9) Congenital malformation of kidney, unspecified
• (Q64.) Other congenital malformations of urinary system
o (Q64.0) Epispadias
o (Q64.1) Exstrophy of urinary bladder
o (Q64.2) Congenital posterior urethral valves
o (Q64.3) Other atresia and stenosis of urethra and bladder neck
o (Q64.4) Malformation of urachus
 Cyst of urachus
 Patent urachus
 Prolapse of urachus
o (Q64.5) Congenital absence of bladder and urethra
o (Q64.6) Congenital diverticulum of bladder
o (Q64.7) Other congenital malformations of bladder and urethra
o (Q64.8) Other specified congenital malformations of urinary system
o (Q64.9) Congenital malformation of urinary system, unspecified
(Q65-Q79) musculoskeletal system
• (Q65.) Congenital deformities of hip
o (Q65.0) Congenital dislocation of hip, unilateral
o (Q65.1) Congenital dislocation of hip, bilateral
o (Q65.2) Congenital dislocation of hip, unspecified
o (Q65.3) Congenital subluxation of hip, unilateral
o (Q65.4) Congenital subluxation of hip, bilateral
o (Q65.5) Congenital subluxation of hip, unspecified
o (Q65.6) Unstable hip
o (Q65.8) Other congenital deformities of hip
o (Q65.9) Congenital deformity of hip, unspecified
• (Q66.) Congenital deformities of feet
o (Q66.0) Talipes equinovarus
o (Q66.1) Talipes calcaneovarus
o (Q66.2) Metatarsus varus
o (Q66.3) Other congenital varus deformities of feet
o (Q66.4) Talipes calcaneovalgus
o (Q66.5) Congenital pes planus
o (Q66.6) Other congenital valgus deformities of feet
o (Q66.7) Pes cavus
o (Q66.8) Other congenital deformities of feet
o (Q66.9) Congenital deformity of feet, unspecified
• (Q67.) Congenital musculoskeletal deformities of head, face, spine and chest
o (Q67.0) Facial asymmetry
o (Q67.1) Compression facies
o (Q67.2) Dolichocephaly
o (Q67.3) Plagiocephaly
o (Q67.4) Other congenital deformities of skull, face and jaw
o (Q67.5) Congenital deformity of spine
o (Q67.6) Pectus excavatum
o (Q67.7) Pectus carinatum
o (Q67.8) Other congenital deformities of chest
• (Q68.) Other congenital musculoskeletal deformities
o (Q68.0) Congenital deformity of sternocleidomastoid muscle
o (Q68.1) Congenital deformity of hand
o (Q68.2) Congenital deformity of knee
o (Q68.3) Congenital bowing of femur
o (Q68.4) Congenital bowing of tibia and fibula
o (Q68.5) Congenital bowing of long bones of leg, unspecified
o (Q68.8) Other specified congenital musculoskeletal deformities
• (Q69.) Polydactyly
o (Q69.0) Accessory finger(s)
o (Q69.1) Accessory thumb(s)
o (Q69.2) Accessory toe(s)
o (Q69.9) Polydactyly, unspecified
• (Q70.) Syndactyly
o (Q70.0) Fused fingers
o (Q70.1) Webbed fingers
o (Q70.2) Fused toes
o (Q70.3) Webbed toes
o (Q70.4) Polysyndactyly
o (Q70.9) Syndactyly, unspecified
• (Q71.) Reduction defects of upper limb
o (Q71.0) Congenital complete absence of upper limb(s)
o (Q71.1) Congenital absence of upper arm and forearm with hand present
o (Q71.2) Congenital absence of both forearm and hand
o (Q71.3) Congenital absence of hand and finger(s)
o (Q71.4) Longitudinal reduction defect of radius
o (Q71.5) Longitudinal reduction defect of ulna
o (Q71.6) Lobster-claw hand
o (Q71.8) Other reduction defects of upper limb(s)
o (Q71.9) Reduction defect of upper limb, unspecified
• (Q72.) Reduction defects of lower limb
o (Q72.0) Congenital complete absence of lower limb(s)
o (Q72.1) Congenital absence of thigh and lower leg with foot present
o (Q72.2) Congenital absence of both lower leg and foot
o (Q72.3) Congenital absence of foot and toe(s)
o (Q72.4) Longitudinal reduction defect of femur
o (Q72.5) Longitudinal reduction defect of tibia
o (Q72.6) Longitudinal reduction defect of fibula
o (Q72.7) Split foot
o (Q72.8) Other reduction defects of lower limb(s)
o (Q72.9) Reduction defect of lower limb, unspecified
• (Q73.) Reduction defects of unspecified limb
o (Q73.0) Congenital absence of unspecified limb(s)
 Amelia NOS
o (Q73.1) Phocomelia, unspecified limb(s)
o (Q73.8) Other reduction defects of unspecified limb(s)
• (Q74.) Other congenital malformations of limb(s)
o (Q74.0) 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
o (Q74.1) Congenital malformation of knee
 genu valgum
 genu varum
o (Q74.2) Other congenital malformations of lower limb(s), including pelvic girdle
o (Q74.3) Arthrogryposis multiplex congenita
o (Q74.8) Other specified congenital malformations of limb(s)
o (Q74.9) Unspecified congenital malformation of limb(s)
• (Q75.) Other congenital malformations of skull and face bones
o (Q75.0) Craniosynostosis
o (Q75.1) Craniofacial dysostosis
o (Q75.2) Hypertelorism
o (Q75.3) Macrocephaly
o (Q75.4) Mandibulofacial dysostosis
 Franceschetti syndrome
 Treacher-Collins syndrome
o (Q75.5) Oculomandibular dysostosis
o (Q75.8) Other specified congenital malformations of skull and face bones
 Absence of skull bone, congenital
 Congenital deformity of forehead
 Platybasia
o (Q75.9) Congenital malformation of skull and face bones, unspecified
• (Q76.) Congenital malformations of spine and bony thorax
o (Q76.0) Spina bifida occulta
o (Q76.1) Klippel-Feil syndrome
o (Q76.2) Congenital spondylolisthesis
o (Q76.3) Congenital scoliosis due to congenital bony malformation
o (Q76.4) Other congenital malformations of spine, not associated with scoliosis
o (Q76.5) Cervical rib
o (Q76.6) Other congenital malformations of ribs
o (Q76.7) Congenital malformation of sternum
 Congenital absence of sternum
 Sternum bifidum
o (Q76.8) Other congenital malformations of bony thorax
o (Q76.9) Congenital malformation of bony thorax, unspecified
• (Q77.) Osteochondrodysplasia with defects of growth of tubular bones and spine
o (Q77.0) Achondrogenesis
o (Q77.1) Thanatophoric short stature
o (Q77.2) Short rib syndrome
o (Q77.3) Chondrodysplasia punctata
o (Q77.4) Achondroplasia
 Hypochondroplasia
o (Q77.5) Dystrophic dysplasia
o (Q77.6) Chondroectodermal dysplasia
 Ellis-van Creveld syndrome
o (Q77.7) Spondyloepiphyseal dysplasia
o (Q77.8) Other osteochondrodysplasia with defects of growth of tubular bones and spine
o (Q77.9) Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
• (Q78.) Other osteochondrodysplasias
o (Q78.0) Osteogenesis imperfecta
o (Q78.1) Polyostotic fibrous dysplasia
o (Q78.2) Osteopetrosis
o (Q78.3) Progressive diaphyseal dysplasia
o (Q78.4) Enchondromatosis
 Maffucci's syndrome
 Ollier's disease
o (Q78.5) Metaphyseal dysplasia
o (Q78.6) Multiple congenital exostoses
o (Q78.8) Other specified osteochondrodysplasias
o (Q78.9) Osteochondrodysplasia, unspecified
• (Q79.) Congenital malformations of the musculoskeletal system, not elsewhere classified
o (Q79.0) Congenital diaphragmatic hernia
o (Q79.1) Other congenital malformations of diaphragm
o (Q79.2) Exomphalos
 Omphalocele
o (Q79.3) Gastroschisis
o (Q79.4) Prune belly syndrome
o (Q79.5) Other congenital malformations of abdominal wall
o (Q79.6) Ehlers-Danlos syndrome
o (Q79.8) Other congenital malformations of musculoskeletal system
o (Q79.9) Congenital malformation of musculoskeletal system, unspecified
(Q80-Q89) Other
• (Q80.) Congenital ichthyosis
o (Q80.0) Ichthyosis vulgaris
o (Q80.1) X-linked ichthyosis
o (Q80.2) Lamellar ichthyosis
o (Q80.3) Congenital bullous ichthyosiform erythroderma
o (Q80.4) Harlequin fetus
o (Q80.8) Other congenital ichthyosis
o (Q80.9) Congenital ichthyosis, unspecified
• (Q81.) Epidermolysis bullosa
o (Q81.0) Epidermolysis bullosa simplex
o (Q81.1) Epidermolysis bullosa letalis
o (Q81.2) Epidermolysis bullosa dystrophica
o (Q81.8) Other epidermolysis bullosa
o (Q81.9) Epidermolysis bullosa, unspecified
• (Q82.) Other congenital malformations of skin
o (Q82.0) Hereditary lymphoedema
o (Q82.1) Xeroderma pigmentosum
o (Q82.2) Mastocytosis
 Urticaria pigmentosa
o (Q82.3) Incontinentia pigmenti
o (Q82.4) Ectodermal dysplasia (anhidrotic)
o (Q82.5) Congenital non-neoplastic naevus
 Birthmark NOS
 naevus flammeus / Port-wine stain
 sanguineous naevus
 strawberry naevus
 vascular naevus NOS
 verrucous naevus
o (Q82.8) 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)
o (Q82.9) Congenital malformation of skin, unspecified
• (Q83.) Congenital malformations of breast
o (Q83.1) Accessory breast
o (Q83.3) Accessory nipple
 Supernumerary nipple
• (Q84.) Other congenital malformations of integument
o (Q84.0) Congenital alopecia
o (Q84.1) Congenital morphological disturbances of hair, not elsewhere classified
 Beaded hair
 Monilethrix
 Pili annulati
 Trichothiodystrophy (ILDS Q84.169)

o (Q84.2) Other congenital malformations of hair
o (Q84.3) Anonychia
o (Q84.4) Congenital leukonychia
o (Q84.5) Enlarged and hypertrophic nails
o (Q84.6) Other congenital malformations of nails
o (Q84.8) Other specified congenital malformations of integument
o (Q84.9) Congenital malformation of integument, unspecified
• (Q85.) Phakomatoses, not elsewhere classified
o (Q85.0) Neurofibromatosis (nonmalignant)
 Von Recklinghausen's disease (ILDS Q85.010)
 Neurofibromatosis II (ILDS Q85.020)
 Neurofibromatosis, segmental (ILDS Q85.030)
o (Q85.1) Tuberous sclerosis
 Bourneville's disease
o (Q85.8) Other phakomatoses, not elsewhere classified
 Sturge-Weber syndrome (EUROCAT Q85.81)
 von Hippel-Lindau disease (EUROCAT Q85.82)
o (Q85.9) Phakomatosis, unspecified
 Hamartosis NOS
• (Q86.) Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
o (Q86.0) Fetal alcohol syndrome (dysmorphic)
• (Q87.) Other specified congenital malformation syndromes affecting multiple systems
o (Q87.0) 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

o (Q87.1) 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)
o (Q87.2) 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
o (Q87.3) Congenital malformation syndromes involving early overgrowth
 Beckwith-Wiedemann syndrome
 Sotos syndrome
 Weaver syndrome
o (Q87.4) Marfan's syndrome
o (Q87.5) Other congenital malformation syndromes with other skeletal changes
o (Q87.8) 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)
• (Q89.) Other congenital malformations, not elsewhere classified
o (Q89.0) Congenital malformations of spleen
 Asplenia (congenital)
 Congenital splenomegaly
o (Q89.1) Congenital malformations of adrenal gland
o (Q89.2) Congenital malformations of other endocrine glands
 Congenital malformation of parathyroid or thyroid gland
 Persistent thyroglossal duct
 Thyroglossal cyst
o (Q89.3) Situs inversus
o (Q89.4) Conjoined twins
o (Q89.7) Multiple congenital malformations, not elsewhere classified
o (Q89.8) Other specified congenital malformations
o (Q89.9) Congenital malformation, unspecified
Q90-Q99 - Chromosomal abnormalities, not elsewhere classified
• (Q90.) Down's syndrome
o (Q90.0) Trisomy 21, meiotic nondisjunction
o (Q90.1) Trisomy 21, mosaicism (mitotic nondisjunction)
o (Q90.2) Trisomy 21, translocation
o (Q90.9) Down's syndrome, unspecified
• (Q91.) Trisomy 18 and Trisomy 13
o (Q91.0) Trisomy 18, meiotic nondisjunction
o (Q91.1) Trisomy 18, mosaicism (mitotic nondisjunction)
o (Q91.2) Trisomy 18, translocation
o (Q91.3) Edwards' syndrome, unspecified
o (Q91.4) Trisomy 13, meiotic nondisjunction
o (Q91.5) Trisomy 13, mosaicism (mitotic nondisjunction)
o (Q91.6) Trisomy 13, translocation
o (Q91.7) Patau's syndrome, unspecified
• (Q92.) Other trisomies and partial trisomies of the autosomes, not elsewhere classified
o Trisomy 9
o Warkany syndrome 2
o (Q92.0) Whole chromosome trisomy, meiotic nondisjunction
o (Q92.1) Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
o (Q92.2) Major partial trisomy
o (Q92.3) Minor partial trisomy
o (Q92.4) Duplications seen only at prometaphase
o (Q92.5) Duplications with other complex rearrangements
o (Q92.6) Extra marker chromosomes
o (Q92.7) Triploidy and polyploidy
o (Q92.8) Other specified trisomies and partial trisomies of autosomes
o (Q92.9) Trisomy and partial trisomy of autosomes, unspecified
• (Q93.) Monosomies and deletions from the autosomes, not elsewhere classified
o (Q93.0) Whole chromosome monosomy, meiotic nondisjunction
o (Q93.1) Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
o (Q93.2) Chromosome replaced with ring or dicentric
o (Q93.3) Deletion of short arm of chromosome 4
 Wolff-Hirschorn syndrome
o (Q93.4) Deletion of short arm of chromosome 5
 Cri-du-chat syndrome
o (Q93.5) Other deletions of part of a chromosome
 Angelman syndrome
o (Q93.6) Deletion seen only at prometaphase
o (Q93.7) Deletions with other complex rearrangements
o (Q93.8) Other deletions from the autosomes
o (Q93.9) Deletion from autosomes, unspecified
• (Q95.) Balanced rearrangements and structural markers, not elsewhere classified
o Robertsonian and balanced reciprocal translocations and insertions
o (Q95.0) Balanced translocation and insertion in normal individual
o (Q95.1) Chromosome inversion in normal individual
o (Q95.2) Balanced autosomal rearrangement in abnormal individual
o (Q95.3) Balanced sex/autosomal rearrangement in abnormal individual
o (Q95.4) Individuals with marker heterochromatin
o (Q95.5) Individuals with autosomal fragile site
o (Q95.8) Other balanced rearrangements and structural markers
o (Q95.9) Balanced rearrangement and structural marker, unspecified
• (Q96.) Turner syndrome
o (Q96.0) Karyotype 45,X
o (Q96.1) Karyotype 46,X iso (Xq)
o (Q96.2) Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
o (Q96.3) Mosaicism, 45,X/46,XX or XY
o (Q96.4) Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
o (Q96.8) Other variants of Turner's syndrome
o (Q96.9) Turner's syndrome, unspecified
• (Q97.) Other sex chromosome abnormalities, female phenotype, not elsewhere classified
o (Q97.0) Karyotype 47,XXX
o (Q97.1) Female with more than three X chromosomes
o (Q97.2) Mosaicism, lines with various numbers of X chromosomes
o (Q97.3) Female with 46,XY karyotype
o (Q97.8) Other specified sex chromosome abnormalities, female phenotype
o (Q97.9) Sex chromosome abnormality, female phenotype, unspecified
• (Q98.) Other sex chromosome abnormalities, male phenotype, not elsewhere classified
o (Q98.0) Klinefelter's syndrome karyotype 47,XXY
o (Q98.1) Klinefelter's syndrome, male with more than two X chromosomes
o (Q98.2) Klinefelter's syndrome, male with 46,XX karyotype
o (Q98.3) Other male with 46,XX karyotype
o (Q98.4) Klinefelter's syndrome, unspecified
o (Q98.5) Karyotype 47,XYY
o (Q98.6) Male with structurally abnormal sex chromosome
o (Q98.7) Male with sex chromosome mosaicism
o (Q98.8) Other specified sex chromosome abnormalities, male phenotype
o (Q98.9) Sex chromosome abnormality, male phenotype, unspecified
• (Q99.) Other chromosome abnormalities, not elsewhere classified
o (Q99.0) Chimera 46,XX/46,XY
o (Q99.1) 46,XX true hermaphrodite
o (Q99.2) Fragile X chromosome
 Fragile X syndrome
o (Q99.8) Other specified chromosome abnormalities
o (Q99.9) Chromosomal abnormality, unspecified

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