Chapter 17: Congenital malformations and chromosomal abnormalities (Q00–Q99)

141 diagnoses listed as covered by Medicare billing and coding articles for HCPCS Level II codes. All chapters.

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
• Q05.5 — 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

Q06: Other congenital malformations of spinal cord

• Q06.2 — Diastematomyelia

Q07: Other congenital malformations of nervous system

• Q07.00 — Arnold-Chiari syndrome without spina bifida or hydrocephalus
• Q07.01 — Arnold-Chiari syndrome with spina bifida
• Q07.02 — Arnold-Chiari syndrome with hydrocephalus
• Q07.03 — Arnold-Chiari syndrome with spina bifida and hydrocephalus
• Q07.8 — Other specified congenital malformations of nervous system

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…

Q21: Congenital malformations of cardiac septa

• Q21.0 — Ventricular septal defect
• Q21.10 — Atrial septal defect, unspecified
• Q21.11 — Secundum atrial septal defect
• Q21.12 — Patent foramen ovale
• Q21.13 — Coronary sinus atrial septal defect
• Q21.14 — Superior sinus venosus atrial septal defect
• Q21.15 — Inferior sinus venosus atrial septal defect
• Q21.16 — Sinus venosus atrial septal defect, unspecified
• Q21.19 — Other specified atrial septal defect
• Q21.20 — Atrioventricular septal defect, unspecified as to partial or complete
• Q21.21 — Partial atrioventricular septal defect
• Q21.22 — Transitional atrioventricular septal defect
• Q21.23 — Complete 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
• Q23.81 — Bicuspid aortic valve
• Q23.82 — Congenital mitral valve cleft leaflet
• Q23.88 — 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 — 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: Congenital malformations of great arteries

• Q25.0 — Patent ductus arteriosus
• Q25.1 — Coarctation of aorta
• Q25.21 — Interruption of aortic arch
• Q25.29 — Other atresia of aorta
• Q25.3 — Supravalvular aortic stenosis
• Q25.40 — Congenital malformation of aorta unspecified
• Q25.41 — Absence and aplasia of aorta
• Q25.42 — Hypoplasia of aorta
• Q25.43 — Congenital aneurysm of aorta
• Q25.44 — Congenital dilation of aorta
• Q25.45 — Double aortic arch
• Q25.46 — Tortuous aortic arch
• Q25.47 — Right aortic arch
• Q25.48 — Anomalous origin of subclavian artery
• Q25.49 — Other congenital malformations of aorta
• Q25.5 — Atresia of pulmonary artery
• Q25.6 — Stenosis of pulmonary artery
• Q25.71 — Coarctation of pulmonary artery
• Q25.72 — Congenital pulmonary arteriovenous malformation
• Q25.79 — Other congenital malformations of pulmonary artery
• Q25.8 — Other congenital malformations of other 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
• Q26.8 — Other congenital malformations of great veins
• Q26.9 — Congenital malformation of great vein, unspecified

Q27: Other congenital malformations of peripheral vascular system

• Q27.1 — Congenital renal artery stenosis
• Q27.2 — Other congenital malformations of renal artery
• Q27.32 — Arteriovenous malformation of vessel of lower limb
• Q27.33 — Arteriovenous malformation of digestive system vessel
• Q27.34 — Arteriovenous malformation of renal vessel
• Q27.39 — Arteriovenous malformation, other site
• Q27.9 — Congenital malformation of peripheral vascular system, unspecified

Q28: Other congenital malformations of circulatory system

• Q28.2 — Arteriovenous malformation of cerebral vessels
• Q28.3 — Other malformations of cerebral vessels

Q30: Congenital malformations of nose

• Q30.0 — Choanal atresia

Q40: Other congenital malformations of upper alimentary tract

• Q40.1 — Congenital hiatus hernia

Q67: Congenital musculoskeletal deformities of head, face, spine and chest

• Q67.6 — Pectus excavatum
• Q67.7 — Pectus carinatum

Q68: Other congenital musculoskeletal deformities

• Q68.0 — Congenital deformity of sternocleidomastoid muscle

Q76: Congenital malformations of spine and bony thorax

• Q76.0 — Spina bifida occulta
• Q76.2 — Congenital spondylolisthesis
• Q76.415 — Congenital kyphosis, thoracolumbar region
• Q76.49 — Other congenital malformations of spine, not associated with scoliosis

Q78: Other osteochondrodysplasias

• Q78.0 — Osteogenesis imperfecta

Q82: Other congenital malformations of skin

• Q82.0 — Hereditary lymphedema

Q85: Phakomatoses, not elsewhere classified

• Q85.00 — Neurofibromatosis, unspecified
• Q85.01 — Neurofibromatosis, type 1
• Q85.02 — Neurofibromatosis, type 2
• Q85.03 — Schwannomatosis
• Q85.09 — Other neurofibromatosis

Q87: Other specified congenital malformation syndromes affecting multiple systems

• Q87.0 — Congenital malformation syndromes predominantly affecting facial…
• Q87.40 — Marfan syndrome, unspecified
• Q87.410 — Marfan syndrome with aortic dilation
• Q87.418 — Marfan syndrome with other cardiovascular manifestations
• Q87.42 — Marfan syndrome with ocular manifestations
• Q87.43 — Marfan syndrome with skeletal manifestation
• Q87.82 — Arterial tortuosity syndrome
• Q87.83 — Bardet-Biedl syndrome
• Q87.84 — Laurence-Moon syndrome
• Q87.85 — MED13L syndrome
• Q87.86 — Kleefstra syndrome
• Q87.88 — CTNNB1 syndrome

Q89: Other congenital malformations, not elsewhere classified

• Q89.3 — Situs inversus

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