Chapter 17: Congenital malformations, deformations and chromosomal abnormalities
538 billable codes (3-4 characters)
Q00.0 Anencephaly Q00.1 Craniorachischisis Q00.2 Iniencephaly Q01.0 Frontal encephalocele Q01.1 Nasofrontal encephalocele Q01.2 Occipital encephalocele Q01.8 Encephalocele of other sites Q01.9 Encephalocele, unspecified Q02 Microcephaly Q03.0 Malformations of aqueduct of Sylvius Q03.1 Atresia of foramina of Magendie and Luschka Q03.8 Other congenital hydrocephalus Q03.9 Congenital hydrocephalus, unspecified Q04.0 Congenital malformations of corpus callosum Q04.1 Arhinencephaly Q04.2 Holoprosencephaly Q04.3 Other reduction deformities of brain Q04.4 Septo-optic dysplasia of brain Q04.5 Megalencephaly Q04.6 Congenital cerebral cysts Q04.8 Other specified congenital malformations of brain Q04.9 Congenital malformation of brain, unspecified 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 Q06.0 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 Q07.8 Other specified congenital malformations of nervous system Q07.9 Congenital malformation of nervous system, unspecified 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 Q11.0 Cystic eyeball Q11.1 Other anophthalmos Q11.2 Microphthalmos Q11.3 Macrophthalmos 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 Q13.0 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 Q13.9 Congenital malformation of anterior segment of eye, unsp Q14.0 Congenital malformation of vitreous humor 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, unsp Q15.0 Congenital glaucoma Q15.8 Other specified congenital malformations of eye Q15.9 Congenital malformation of eye, unspecified Q16.0 Congenital absence of (ear) auricle Q16.1 Congenital absence, atresia and stricture of auditory canal 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 Congen malform of ear causing impairment of hearing, unsp 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 Q18.0 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 Q20.0 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 Oth congenital malform of cardiac chambers and connections Q20.9 Congenital malform of cardiac chambers and connections, unsp Q21.0 Ventricular 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 Q22.0 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 Q23.0 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 Q23.9 Congenital malformation of aortic and mitral valves, unsp Q24.0 Dextrocardia Q24.1 Levocardia 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 Q25.0 Patent ductus arteriosus Q25.1 Coarctation of aorta Q25.3 Supravalvular aortic stenosis Q25.5 Atresia of pulmonary artery Q25.6 Stenosis of pulmonary artery Q25.8 Other congenital malformations of other great arteries Q25.9 Congenital malformation of great arteries, unspecified 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 Q27.0 Congenital absence and hypoplasia of umbilical artery Q27.1 Congenital renal artery stenosis Q27.2 Other congenital malformations of renal artery Q27.4 Congenital phlebectasia Q27.8 Oth congenital malformations of peripheral vascular system Q27.9 Congenital malformation of peripheral vascular system, unsp 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 Oth congenital malformations of circulatory system Q28.9 Congenital malformation of circulatory system, unspecified 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 Q31.0 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 Q32.0 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 Q33.0 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 Congenital hypoplasia and dysplasia of lung Q33.8 Other congenital malformations of lung Q33.9 Congenital malformation of lung, unspecified Q34.0 Anomaly of pleura Q34.1 Congenital cyst of mediastinum Q34.8 Oth congenital malformations of respiratory system Q34.9 Congenital malformation of respiratory system, unspecified 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 Q36.0 Cleft lip, bilateral Q36.1 Cleft lip, median Q36.9 Cleft lip, unilateral 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 Q38.0 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 Congenital pharyngeal pouch Q38.8 Other congenital malformations of pharynx Q39.0 Atresia of esophagus without fistula Q39.1 Atresia of esophagus with tracheo-esophageal fistula Q39.2 Congenital tracheo-esophageal fistula without atresia Q39.3 Congenital stenosis and stricture of esophagus Q39.4 Esophageal web Q39.5 Congenital dilatation of esophagus Q39.6 Congenital diverticulum of esophagus Q39.8 Other congenital malformations of esophagus Q39.9 Congenital malformation of esophagus, unspecified 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 Oth congenital malformations of upper alimentary tract Q40.9 Congenital malformation of upper alimentary tract, unsp 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 prt sm int Q41.9 Congen absence, atresia and stenosis of sm int, part unsp Q42.0 Congenital absence, atresia and stenosis of rectum w fistula Q42.1 Congen absence, atresia and stenosis of rectum w/o fistula Q42.2 Congenital absence, atresia and stenosis of anus w fistula Q42.3 Congenital absence, atresia and stenosis of anus w/o fistula Q42.8 Congenital absence, atresia and stenosis of prt lg int Q42.9 Congen absence, atresia and stenosis of lg int, part unsp Q43.0 Meckel's diverticulum (displaced) (hypertrophic) 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 Q44.0 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 Q45.0 Agenesis, aplasia and hypoplasia of pancreas Q45.1 Annular pancreas Q45.2 Congenital pancreatic cyst Q45.3 Oth congenital malformations of pancreas and pancreatic duct Q45.8 Other specified congenital malformations of digestive system Q45.9 Congenital malformation of digestive system, unspecified Q50.1 Developmental ovarian cyst Q50.2 Congenital torsion of ovary Q50.4 Embryonic cyst of fallopian tube Q50.5 Embryonic cyst of broad ligament Q50.6 Oth congenital malformations of fallop and broad ligament Q51.0 Agenesis and aplasia 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 Congen fistulae betw uterus and digestive and urinary tracts Q51.9 Congenital malformation of uterus and cervix, unspecified Q52.0 Congenital absence 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 Q52.8 Other specified congenital malformations of female genitalia Q52.9 Congenital malformation of female genitalia, unspecified Q53.9 Undescended testicle, unspecified 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 Q55.0 Absence and aplasia of testis Q55.1 Hypoplasia of testis and scrotum Q55.3 Atresia of vas deferens Q55.4 Oth congen malform of vas def,epidid, semnl vescl & prostate Q55.5 Congenital absence and aplasia of penis Q55.7 Congenital vasocutaneous fistula Q55.8 Oth congenital malformations of male genital organs Q55.9 Congenital malformation of male genital organ, unspecified 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 Q60.0 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 Q61.2 Polycystic kidney, adult type 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 Q62.0 Congenital hydronephrosis Q62.2 Congenital megaureter Q62.4 Agenesis of ureter Q62.5 Duplication of ureter Q62.7 Congenital vesico-uretero-renal reflux Q62.8 Other congenital malformations of ureter 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 Q64.0 Epispadias Q64.2 Congenital posterior urethral valves Q64.4 Malformation of urachus Q64.5 Congenital absence of bladder and urethra Q64.6 Congenital diverticulum of bladder Q64.8 Other specified congenital malformations of urinary system Q64.9 Congenital malformation of urinary system, unspecified Q65.1 Congenital dislocation of hip, bilateral Q65.2 Congenital dislocation of hip, unspecified Q65.4 Congenital partial dislocation of hip, bilateral Q65.5 Congenital partial dislocation of hip, unspecified Q65.6 Congenital unstable hip Q65.9 Congenital deformity of hip, unspecified Q66.6 Other congenital valgus deformities of feet Q67.0 Congenital facial asymmetry Q67.1 Congenital 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 Q68.0 Congenital deformity of sternocleidomastoid muscle Q68.1 Congenital deformity of finger(s) and 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 Q68.6 Discoid meniscus Q68.8 Other specified congenital musculoskeletal deformities Q69.0 Accessory finger(s) Q69.1 Accessory thumb(s) Q69.2 Accessory toe(s) Q69.9 Polydactyly, unspecified Q70.4 Polysyndactyly, unspecified Q70.9 Syndactyly, unspecified Q73.0 Congenital absence of unspecified limb(s) Q73.1 Phocomelia, unspecified limb(s) Q73.8 Other reduction defects of unspecified limb(s) Q74.0 Oth congen malform of upper limb(s), inc shoulder girdle Q74.1 Congenital malformation of knee Q74.2 Oth congen malform 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) Q75.1 Craniofacial dysostosis Q75.2 Hypertelorism Q75.3 Macrocephaly Q75.4 Mandibulofacial dysostosis Q75.5 Oculomandibular dysostosis Q75.8 Oth congenital malformations of skull and face bones Q75.9 Congenital malformation of skull and face bones, unspecified Q76.0 Spina bifida occulta Q76.1 Klippel-Feil syndrome Q76.2 Congenital spondylolisthesis Q76.3 Congenital scoliosis due to congenital bony malformation 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 Q77.0 Achondrogenesis Q77.1 Thanatophoric short stature Q77.2 Short rib syndrome Q77.3 Chondrodysplasia punctata Q77.4 Achondroplasia Q77.5 Diastrophic dysplasia Q77.6 Chondroectodermal dysplasia Q77.7 Spondyloepiphyseal dysplasia Q77.8 Oth osteochndrdys w defct of growth of tublr bones and spine Q77.9 Osteochndrdys w defct of grth of tublr bones and spine, unsp 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 Q79.0 Congenital diaphragmatic hernia Q79.1 Other congenital malformations of diaphragm Q79.2 Exomphalos Q79.3 Gastroschisis Q79.4 Prune belly syndrome Q79.8 Other congenital malformations of musculoskeletal system Q79.9 Congenital malformation of musculoskeletal system, unsp 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 Q81.0 Epidermolysis bullosa simplex Q81.1 Epidermolysis bullosa letalis Q81.2 Epidermolysis bullosa dystrophica Q81.8 Other epidermolysis bullosa Q81.9 Epidermolysis bullosa, unspecified Q82.0 Hereditary lymphedema Q82.1 Xeroderma pigmentosum Q82.2 Congenital cutaneous mastocytosis Q82.3 Incontinentia pigmenti Q82.4 Ectodermal dysplasia (anhidrotic) Q82.5 Congenital non-neoplastic nevus Q82.6 Congenital sacral dimple Q82.8 Other specified congenital malformations of skin Q82.9 Congenital malformation of skin, unspecified 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 Q84.0 Congenital alopecia Q84.1 Congenital morphological disturbances of hair, NEC 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 Q85.1 Tuberous sclerosis Q85.9 Phakomatosis, unspecified Q86.0 Fetal alcohol syndrome (dysmorphic) Q86.1 Fetal hydantoin syndrome Q86.2 Dysmorphism due to warfarin Q86.8 Oth congen malform syndromes due to known exogenous causes Q87.0 Congen malform syndromes predom affecting facial appearance Q87.2 Congenital malformation syndromes predom involving limbs Q87.3 Congenital malformation syndromes involving early overgrowth Q87.5 Oth congenital malformation syndromes w oth skeletal changes Q87.A Loeys-Dietz syndrome 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 Q89.9 Congenital malformation, unspecified Q90.0 Trisomy 21, nonmosaicism (meiotic nondisjunction) Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction) Q90.2 Trisomy 21, translocation Q90.9 Down syndrome, unspecified Q91.0 Trisomy 18, nonmosaicism (meiotic nondisjunction) Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction) Q91.2 Trisomy 18, translocation Q91.3 Trisomy 18, unspecified Q91.4 Trisomy 13, nonmosaicism (meiotic nondisjunction) Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction) Q91.6 Trisomy 13, translocation Q91.7 Trisomy 13, unspecified Q92.0 Whole chromosome trisomy, nonmosaic (meiotic nondisjunction) Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction) Q92.2 Partial trisomy Q92.5 Duplications with other complex rearrangements Q92.7 Triploidy and polyploidy Q92.8 Other specified trisomies and partial trisomies of autosomes Q92.9 Trisomy and partial trisomy of autosomes, unspecified Q93.0 Whole chromosome monosomy,nonmosaic (meiotic nondisjunction) Q93.1 Whole chromosome monosomy, mosaic (mitotic nondisjunction) Q93.2 Chromosome replaced with ring, dicentric or isochromosome Q93.3 Deletion of short arm of chromosome 4 Q93.4 Deletion of short arm of chromosome 5 Q93.7 Deletions with other complex rearrangements Q93.9 Deletion from autosomes, unspecified 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 Q95.5 Individual with autosomal fragile site Q95.8 Other balanced rearrangements and structural markers Q95.9 Balanced rearrangement and structural marker, unspecified Q96.0 Karyotype 45, X Q96.1 Karyotype 46, X iso (Xq) Q96.2 Karyotype 46, X w abnormal sex chromosome, except iso (Xq) Q96.3 Mosaicism, 45, X/46, XX or XY Q96.4 Mosaic, 45, X/other cell line(s) w abnormal sex chromosome Q96.8 Other variants of Turner's syndrome Q96.9 Turner's syndrome, unspecified 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 Oth sex chromosome abnormalities, female phenotype Q97.9 Sex chromosome abnormality, female phenotype, unspecified Q98.0 Klinefelter syndrome karyotype 47, XXY Q98.1 Klinefelter syndrome, male with more than two X chromosomes Q98.3 Other male with 46, XX karyotype Q98.4 Klinefelter 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 Q99.0 Chimera 46, XX/46, XY Q99.1 46, XX true hermaphrodite Q99.2 Fragile X chromosome Q99.9 Chromosomal abnormality, unspecified