Chapter 16
CONGENITAL ANOMALIES
Introduction
Congenital anomalies are conditions that are present at birth. Congenital anomalies include both congenital malformations, such as spina bifida, atrial and ventricular septal heart defects, undescended testis, and chromosomal abnormalities such as trisomy 21 also known as Down syndrome. These conditions are coded in Chapter 16 Congenital Malformation, Deformations, and Chromosomal Abnormalities and are grouped together first by body system, followed by other congenital conditions such as syndromes affecting multiple systems, and chromosomal abnormalities not elsewhere classified.
Codes for congenital malformations, deformations, and chromosomal abnormalities require specific documentation related to these conditions. For example, codes for encephalocele are specific to site and must be documented as frontal, nasofrontal, occipital, or of other specific sites. Other conditions such as cleft lip and palate do not require documentation of the condition as complete or incomplete but do require specific documentation of the site of the opening in the palate as either the hard or soft palate, and the location of the cleft lip as unilateral, in the median, or bilateral.
Below is a table showing the 11 code blocks that make up Chapter 16:
ICD-10-CM Blocks
Q00-Q07
Congenital Malformations of the Nervous System
Q10-Q18
Congenital Malformations of Eye, Ear, Face and Neck
Q20-Q28
Congenital Malformations of the Circulatory System
Q30-Q34
Congenital Malformations of the Respiratory System
Q35-Q37
Cleft Lip and Cleft Palate
Q38-Q45
Other Congenital Malformations of the Digestive System
Q50-Q56
Congenital Malformations of the Genital Organs
Q60-Q64
Congenital Malformations of the Urinary System
Q65-Q79
Congenital Malformations and Deformations of the Musculoskeletal System
Q80-Q89
Other Congenital Malformations
Q90-Q99
Chromosomal Abnormalities, Not Elsewhere Classified
Coding Note(s)
There is a chapter level note indicating that codes from Chapter 17 are not to be used on maternal or fetal records.
Exclusions
An Excludes2 note indicates that inborn errors of metabolism are not inherently included in codes from Chapter 17. Inborn errors of metabolism may occur at the same time and includes conditions such as classical phenylketonuria (PKU) (E70.0), albinism (E70.3-), congenital lactase deficiency (E73.0), and hereditary fructose intolerance (E74.12). If the patient has both types of conditions/diseases and it is clearly documented, codes for inborn errors of metabolism may be reported together with codes for congenital anomalies.
Excludes1
Excludes2
None
Inborn errors of metabolism (E70-E88)
Chapter Guidelines
When a malformation, deformation, or chromosomal abnormality is documented, the appropriate code from categories Q00-Q99 is assigned. Specific guidelines are as follows:
•A malformation, deformation, or chromosomal abnormality may be the principal or first-listed diagnosis or it may be a secondary diagnosis
•For the birth admission, the principal diagnosis is always a code from category Z38 Liveborn infants according to place of birth and type of delivery, followed by any applicable congenital anomaly codes in categories Q00-Q99
•When there is not a specific diagnosis for the malformation, deformation, or chromosomal abnormality, additional codes are assigned for any manifestations that are present
•When the code specifically identifies the malformation, deformation, or chromosomal abnormality, the following rules apply:
–Manifestations that are an inherent component of the anomaly should not be coded separately
–Additional codes may be reported for manifestations that are not an inherent component of the anomaly
•Codes from Chapter 17 may be used throughout the life of the patient
•If the congenital malformation or deformity has been corrected, a personal history code should be used to identify the history of the malformation or deformity
•Although present at birth the congenital malformation, deformation, or chromosomal abnormality may not be diagnosed until later in life and it is appropriate to assign a code from Chapter 17 when the physician documentation supports a diagnosis of a congenital anomaly
General Documentation Requirements
Documentation requirements for congenital malformations, deformations, and chromosomal abnormalities may involve site specificity. For example, there are specific codes for sacral spina bifida with and without hydrocephalus (Q05.3, Q05.8). Congenital absence, atresia, and stenosis of the small (Q41) and large (Q42) intestines provide another example of site specificity requiring documentation of the site as the duodenum, jejunum, ileum, other specified parts of the small intestine, rectum, anus, or other parts of the large intestine.
Another documentation requirement is laterality. For conditions classified in Chapter 17, this primarily involves identifying the condition as unilateral or bilateral for paired organs and structures, although congenital absence and reduction defects of the limbs also require documentation of right, left, or bilateral. Many similar conditions are assigned specific, separate codes instead of being covered together with one reportable code, such as specific codes for biliary atresia (Q44.2), congenital stenosis or stricture of the bile ducts (Q44.3), and choledochal cyst (Q44.4). The code for other congenital malformations of the bile ducts (Q44.5) includes accessory or duplicate hepatic duct, biliary duct, or cystic duct.
For congenital conditions, greater specificity often allows the severity of the condition to be captured. For example, the severity of hypospadias is captured by codes that identify the site of the malpositioned urethral opening as balanic, penile, penoscrotal, or perineal. Knowing where it manifests allows capture of the severity of this congenital malformation.
While in many cases the physician documentation will be sufficient to capture the most specific code, it is necessary for physicians and coders to review the documentation, even for many commonly treated conditions, to ensure that the documentation meets the requirements for reporting the code to the greatest degree of granularity.
Code-Specific Documentation Requirements
In this section, ICD-10-CM codes are listed and corresponding documentation requirements are identified. The focus is on conditions that require specific clinical documentation requirements in more than one axis. Although not all codes with significant documentation requirements are discussed, this section will provide a representative sample of the type of documentation needed for reporting congenital anomalies.
Cleft Palate and Cleft Lip
Cleft palate is a birth defect of the roof of the mouth characterized by a split or opening in the palate. The defect may involve the bony front portion of the palate, called the hard palate, the soft back portion of the palate, called the soft palate, or both the hard and soft palate. The defect in the palate may be complete or incomplete. A complete cleft palate involves both the soft and hard palate, and there may also be a gap in the maxilla. An incomplete cleft palate involves either the hard or soft palate but does not extend through both. It may present as an opening in the roof of the mouth, and most often involves only the soft palate. When cleft of the soft palate occurs (with or without the hard palate), the uvula is usually split, which occurs due to failure of fusion of the lateral palatine processes, the nasal septum, and/or the median palatine processes. Cleft palate may occur on one side (unilateral) or on both sides (bilateral).
Cleft lip is a birth defect of the upper lip that is characterized by a split, or gap, in the upper lip. The split may be only a small notch or it may extend into the nose and involve both the soft tissues and bone of the maxilla and nose. A cleft lip that does not extend into the nose may be referred to as an incomplete cleft lip, while one that extends into the nose may be referred to as a complete cleft clip. Cleft lip may affect one side or both sides. Because the palate and lip develop separately, these birth defects may occur alone or they may occur together.
Cleft palate and/or lip are classified first by whether they occur alone or together. For a cleft palate (Q35), the site of the defect is then identified. Instead of using the descriptors complete and incomplete, ICD-10-CM identifies the defect specifically as involving the hard palate, soft palate, or hard palate with soft palate. Complete and incomplete terminology is not used. There is also a code for cleft uvula. When cleft palate occurs alone, it is not classified as unilateral or bilateral. For cleft lip (Q36), the location defect is identified as bilateral, median, or unilateral. When the two defects occur together (Q37), the palate defect is identified first in the code description and must be documented as being in the hard, soft, or both hard and soft palate. The defect in the lip is then identified and must be documented as unilateral or bilateral.
Coding and Documentation Requirements
Identify condition:
•Cleft palate
•Cleft lip
•Cleft palate and cleft lip
For cleft palate without cleft lip identify site:
•Hard palate
•Soft palate
•Hard and soft palate
•Uvula
•Unspecified
For cleft lip without cleft palate identify site/laterality:
•Bilateral
•Median
•Unilateral
For cleft palate occurring with cleft lip, identify defect sites in combination:
•First for Cleft palate:
–Hard palate
–Soft palate
–Hard and soft palate
–Unspecified
•Together with Cleft lip:
–Bilateral
–Unilateral
ICD-10-CM Code/Documentation
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
Note: When cleft lip alone is unspecified as to site, Q36.9 for unilateral cleft lip is assigned.
Documentation and Coding Example
ENT Note: Patient is a newborn who was noted to have a cleft palate during routine exam in WBN. This healthy appearing Caucasian female was born via SVD seven hours ago to a G5 mother who had regular prenatal care with a midwife. Following the birth, mother attempted to breast feed but noticed the baby had trouble latching and had a poor suck. Infant has no dysmorphic facial features and is alert and active on exam. BW 3450 grams, Length 50 cm. HC 34.5 cm. No defect in the lip is noted. There is a V-shaped cleft of the hard and soft palates extending just to the uvula. Patent nares. No ear deformities.
Impression: Cleft hard palate with cleft soft palate. Feeding specialist has already been in and is working with mother to pump and feed expressed breast milk. Met with parents to discuss findings and they appear comfortable with the infant and have supportive family to help them out. Mother had planned to leave the hospital within 12 hours of delivery but will stay until baby is stable and feeding well. Parents understand that surgery will be necessary but there is no urgency to it.
Plan: Continue feeding support with specialist. Newborn hearing exam prior to discharge. Genetic consult and work up. Patient may be discharged when pediatrician feels she is stable. Follow up with ENT in 2 weeks, sooner if there are any problems.
Diagnosis Code(s)
Q35.5
Cleft hard palate with cleft soft palate
Coding Note(s)
The site of the cleft palate is specifically identified in the code, and laterality is not reported for cleft palate alone.
Congenital Hydrocephalus
Congenital hydrocephalus is the excessive accumulation of cerebrospinal fluid (CSF) in the brain. Congenital hydrocephalus is a condition that is present at birth although it might not be diagnosed until later in infancy.
The ventricular system in the brain is made up of four ventricles connected by narrow passages. The ventricles are filled with CSF which is a clear fluid that surrounds the brain and spinal cord. Normally, CSF flows through the ventricles and then into cisterns which are closed spaces that serve as CSF reservoirs at the base of the brain. CSF bathes the surfaces of the brain and spinal cord and then is reabsorbed into the bloodstream. Any imbalance between production and absorption of CSF caused either by obstruction of CSF flow from one region of the brain to another, or by failure to reabsorb CSF, can cause an over-accumulation of CSF in the brain resulting in hydrocephalus.
Category Q03 Congenital hydrocephalus contains four codes:
•Code Q03.0 Malformations of the aqueduct of Sylvius identifies one of the most common causes of congenital hydrocephalus, which is stenosis or narrowing of this small passage between the third and fourth ventricles in the middle of the brain.
•Code Q03.1 Atresia of foramina of Magendie and Luschka, also called Dandy-Walker syndrome, is another common cause of obstructive internal hydrocephalus. An enlarged fourth ventricle and loss of the area between the two cerebellar hemispheres causes an increase in the fluid-filled spaces around the brain.
•There are also codes for other specified types of congenital hydrocephalus, Q03.8, and unspecified congenital hydrocephalus, Q03.9.
Careful attention must be paid to the documentation to ensure that the hydrocephalus is not associated with spina bifida or Arnold-Chiari syndrome Type II. Hydrocephalus with spina bifida is reported with codes Q05.0-Q05.4, and hydrocephalus associated with Arnold-Chiari syndrome Type II is reported with codes Q07.02 and Q07.03 (with both spina bifida and hydrocephalus).
Coding and Documentation Requirements
Identify the type of congenital hydrocephalus:
•Atresia of foramina of Magendie and Luschka (Dandy-Walker syndrome)
•Malformations of aqueduct of Sylvius
•Other specified type of congenital hydrocephalus
•Unspecified congenital hydrocephalus
ICD-10-CM Code/Documentation
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
Documentation and Coding Example
Seven-month-old male infant is brought to ED by mother with irritability and vomiting. Mother states she has been concerned about her child for a few months due to increasing head size and decreased muscle tone. She expressed her concerns to the pediatrician one month ago at his 6-month check-up but the doctor just dismissed them and said he was fine. T 98.8, P 100, R 16, BP 100/40, Wt. 17 lbs. HC 48 cm. On examination, this is fussy infant with a large head and poor neck muscle control. Anterior fontanelle open and bulging. Sutures are widely separated and he has a large network of veins over the scalp. PERRL with papilledema, downward pupil gaze, and nystagmus noted on exam. Cranial nerves grossly intact. Heart rate regular, breath sounds clear. Abdomen soft, round with active bowel sounds. Mother states infant appears hungry and will breast feed but vomits soon after eating. He has refused solid foods today. Pediatric Neurology called to see infant and orders a CT scan under sedation, admit to pediatric floor following the scan.
Pediatric Neurology Admit Note: CT scan shows atresia of the foramen Magendie and Luschka with hydrocephalus in the fourth ventricle. Pediatric neurosurgery has been called to consult for shunt insertion. Pre-operative labs have been drawn including CBC, coagulation studies, comprehensive metabolic panel. Patient is NPO and receiving IV fluids for hydration.
Diagnosis Code(s)
Q03.1
Atresia of foramina of Magendie and Luschka
Coding Note(s)
The congenital hydrocephalus is due to congenital absence of the two foramina (openings) in the fourth ventricle of the brain preventing the normal flow of CSF and causing accumulation of fluid in this region of the brain. There is a specific code for this condition, Q03.1 Atresia of foramina of Magendie and Luschka.
Down Syndrome
Normally each individual has 46 chromosomes – 23 from each parent. Some genetic anomalies are caused by an individual receiving an extra copy of a chromosome from one parent, so these individuals have 47 chromosomes. Down syndrome, now more commonly referred to as Trisomy 21, is caused by an additional copy of chromosome 21. There are three recognized genetic variations related to Trisomy 21 which include nonmosaicism, mosaicism, and translocation. The symptoms of the condition may vary significantly depending on the form of Trisomy 21.
Nonmosaicism – In nonmosaicism Down Syndrome, one of the gamete cells (either sperm or egg) which normally contain 23 chromosomes has an extra copy of Chromosome 21. The embryo then has 47 chromosomes. This is the most common form of Trisomy 21, occurring in 95 percent of individuals with this genetic condition. The maternal egg cell is responsible for this form of Down Syndrome about 88 percent of the time, the paternal sperm cell only about 8 percent of the time.
Mosaicism – In the mosaicism form of Down Syndrome, a nondisjunction event occurs on chromosome 21 during early cell division of normal gametes (egg or sperm cell with 23 chromosomes). This causes some cells to have 47 chromosomes and others to have the normal number of 46. This is an uncommon form of Trisomy 21, occurring in only 1-2 percent of all individuals identified with Down Syndrome.
Robertsonian Translocation – This form of Down Syndrome may also be referred to as Familial Down Syndrome and occurs in 2-3 percent of cases. It can come from either the paternal line or maternal line and is not associated with a maternal age defect. In a translocation, the long arm of Chromosome 21 attaches to another chromosome, most often Chromosome 14. The parent is phenotypically normal, but with normal disjunction it is possible for a gamete to be formed that has an extra 21st chromosome.
Coding and Documentation Requirements
Identify the form of Trisomy 21:
•Mosaicism
•Nonmosaicism
•Translocation
•Unspecified
ICD-10-CM Code/Documentation
Q90.0
Trisomy 21, nonmosaicism (meiotic nondisjunction)
Q90.1
Trisomy 21, mosaicism (mitotic nondisjunction)
Q90.2
Trisomy 21, translocation
Q90.9
Down syndrome, unspecified
Documentation and Coding Example
Three-week-old Caucasian female is seen with her parents in genetic clinic to report on recent testing. Infant was observed to have some unusual features at birth, suggesting a genetic problem. Mother is age 27, father age 29 and this is their first child. Pregnancy was uncomplicated. Mothers AFP was WNL, prenatal ultrasounds were normal. The genetic history for both families is unremarkable. Infant is thriving despite having decreased muscle tone and poor suck. Mother has been assisted to pump and breast feed by a lactation consultant and infant is now getting most of her nutrition directly from the breast. Genetic tests confirm the infant has Trisomy 21, mosaicism. Patient has very few characteristics of Down Syndrome but of significance are small ears and mouth and some excess skin at the back of her neck. She had a cardiac echo prior to discharge because of a heart murmur and she does have a small ASD that will be monitored by Pediatric Cardiology. Parents are offered information on support groups and their questions are answered. We will remain in contact with the family for as long as they desire support and services.
Diagnosis Code(s)
Q90.1
Trisomy 21, mosaicism (mitotic nondisjunction)
Q21.1
Atrial septal defect
Coding Note(s)
Code Q90.1 specifically identifies the form of Trisomy 21 as mosaicism. Coding guidelines state that additional conditions that are not an inherent component of the anomaly should be reported. The atrial septal defect is a condition that is often associated with Trisomy 21 but is not an inherent component of the defect so code Q21.1 is assigned for the atrial septal defect additionally.
Encephalocele
An encephalocele is a rare disorder in which the bones of the skull do not close completely. This results in a bone gap through which cerebral spinal fluid, brain tissue, and the meninges (membrane that covers the brain) can protrude. This results in a sac-like malformation outside the skull. An encephalocele is a type of neural tube defect. The neural tube is the embryonic tissue that forms the brain, spinal cord, and the surrounding bones of the skull. An encephalocele may also be referred to by the following terms:
•Cephalocele
•Cerebral meningocele
•Cranial hydromeningocele
•Encephalocystocele
•Encephalomyelocele
•Hydroencephalocele
•Meningoencephalocele
Another term used to refer to an encephalocele is Type III Arnold-Chiari syndrome. Careful review of documentation for Arnold-Chiari syndrome is required because only Type III is reported with a code from category Q01 Encephalocele. Arnold-Chiari syndrome Type II is reported with codes from subcategory Q07.0-, which are also the default codes for Arnold-Chiari syndrome not otherwise specified. There is also a Type IV Arnold Chiari syndrome which is reported with code Q04.8 Other specified congenital malformations of the brain.
Codes for encephalocele are found in category Q01. There are specific codes for the most common encephalocele locations which include midline of the upper anterior part of the skull (frontal), the area between the forehead and the nose (nasofrontal), and the back of the skull (occipital or basal).
Coding and Documentation Requirements
Identify site of encephalocele:
•Frontal
•Nasofrontal
•Occipital
•Other specified site
•Unspecified site
ICD-10-CM Code/Documentation
Q01.0
Frontal encephalocele
Q01.1
Nasofrontal encephalocele
Q01.2
Occipital encephalocele
Q01.8
Encephalocele of other sites
Q01.9
Encephalocele, unspecified
Documentation and Coding Example
Patient is a two-month-old Caucasian female scheduled for elective cranial surgery to close an occipital encephalocele. The defect was found on prenatal ultrasound at 28 weeks gestation. Mother did not have an elevated AFP level and amniocentesis revealed normal 46 XX chromosome pattern. Infant was delivered via elective C-section at 39 weeks and she had an unremarkable neonatal period. MRI imaging at 2 days of age, revealed a 2 x 2 cm rhombic roof encephalocele, caudal to the torcula, containing cerebral spinal fluid but no brain tissue. Patient had a normal neurological workup and because she was somewhat small for gestational age, the team decided to postpone surgery until she had gained weight and was thriving. Patient is now 8 lbs. 4 oz., up from a BW of 5 lbs. 13 oz. She is exclusively breast fed. On examination, this is an active, alert infant. Fontanelles are open and soft, encephalocele is noted at base of skull as a soft cystic mass. Heart rate regular, breath sounds clear and equal bilaterally. Abdomen soft and round with active bowel sounds. No hip click, diaper area clean. Patient is healthy and cleared for surgery. Note electronically sent to hospital, neurosurgeon and anesthesia.
Diagnosis Code(s)
Q01.2
Occipital encephalocele
Coding Note(s)
Code Q01.2 is specific for an occipital encephalocele, which might also be documented as basal encephalocele.
Gallbladder, Bile Ducts, and Liver Anomalies
Biliary atresia is a congenital condition characterized by a blockage in the bile ducts. The bile ducts carry bile from the liver to the gallbladder and a blockage of the ducts leads to liver damage which can be fatal if it is not treated. Congenital stenosis or stricture of the bile ducts is a narrowing of the ducts that impedes the flow of bile and can also cause liver damage. Choledochal cysts are cystic dilations of the bile ducts and may involve the intrahepatic and/or extrahepatic ducts.
Cystic liver disease is another condition that is believed to be congenital in origin. This type of liver disease is often benign, causing no symptoms and not requiring any treatment. The cause of simple liver cysts is not known. Adult polycystic liver disease is congenital and is usually associated with autosomal dominant polycystic kidney disease that is caused by genetic mutation of two genes, PKD1 and PKD2. The polycystic kidney disease (PKD) usually precedes the polycystic liver disease. While the PKD often results in kidney failure, liver failure is rarely seen due to polycystic liver disease.
Anomalies of the gallbladder include agenesis, aplasia, and hypoplasia. Agenesis, or absence of the gallbladder, is a rare anomaly and may be asymptomatic. Aplasia may also refer to congenital absence of the gallbladder or to defective development of the gallbladder, both of which are rare. Congenital hypoplasia, also a rare condition, refers to underdevelopment of the gallbladder.
There are specific codes for atresia of the bile ducts (Q44.2), congenital stenosis and stricture of the bile ducts (Q44.3), and choledochal cysts (Q44.4). There are also specific codes for cystic liver disease (Q44.6), and agenesis, aplasia and hypoplasia of the gallbladder (Q44.0). Codes for other specified anomalies of the gallbladder (Q44.1), bile ducts (Q44.5), and liver (Q44.7) are specific to each site. There are no codes for an unspecified anomaly of these organs.
Coding and Documentation Requirements
Identify condition by site:
•Bile ducts
–Atresia
–Choledochal cyst
–Stenosis/stricture
–Other congenital malformations, which includes:
»Accessory hepatic bile duct
»Bile duct duplication
»Cystic duct duplication
»Unspecified bile duct malformation
•Gallbladder
–Agenesis/aplasia/hypoplasia
–Other congenital malformations, which includes:
»Intrahepatic gallbladder
»Unspecified gallbladder malformation
•Liver
–Cystic liver disease
–Other congenital malformations, which includes:
»Accessory liver
»Alagille syndrome
»Congenital absence of liver
»Congenital hepatomegaly
»Unspecified liver malformation
ICD-10-CM Code/Documentation
Q44.0
Agenesis, aplasia and hypoplasia of gallbladder
Q44.1
Other congenital malformation 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
Documentation and Coding Example
Four-week-old Asian female is referred to Pediatric Gastroenterology with new onset jaundice, irritability, and poor weight gain. Infant was born at 38 weeks, uncomplicated pregnancy and delivery, uneventful neonatal period. She was seen at 5 days of age and 14 days of age, was gaining weight and appeared to be doing well. Parents noticed mild jaundice a week ago that has gotten progressively worse with dark urine and grayish colored stools. Pediatrician ordered blood tests that revealed elevated bilirubin and LFTs. Abdominal x-ray significant for enlarged liver, spleen normal size. Liver was again noted to be enlarged on ultrasound and gallbladder could not be identified. She is scheduled for a HIDA scan in nuclear medicine tomorrow. On examination, this is an alert but fussy infant who is examined in her mother’s arms. PERRL. Sclera and skin jaundiced. Skin is dry, muscle wasting is present. Nares patent with moist pink mucous membranes. Heart rate regular, breath sounds clear and equal. Abdomen is soft and round. Liver is palpated at 2 cm below the RCM, spleen at the LCM. Discussed possible causes of jaundice with parents, including a probable diagnosis of biliary atresia. Explained the HIDA test and its specificity for detecting that problem. Questions answered. They will return to clinic immediately following the HIDA scan tomorrow.
Peds GI Follow-up Note: HIDA scan showed no dye uptake by the gallbladder or flow into the intestine.
Diagnosis: Congenital biliary atresia.
Plan: Referral to Pediatric surgery for possible liver biopsy and/or exploratory laparotomy with operative cholangiogram.
Diagnosis Code(s)
Q44.2
Atresia of bile ducts
Coding Note(s)
Code Q44.2 is specific to congenital atresia of the bile ducts and does not include other congenital anomalies of the bile ducts, or the gallbladder. If they are also noted, separate codes would be reported for the specific conditions.
Hypospadias and Congenital Chordee
Hypospadias is a congenital anomaly in which the opening of the urethra is on the underside of the penis rather than being in its normal position at the tip of the penis. The condition varies in severity which is dependent upon the location of the urethral opening. The nearer the urethral opening is to the end or tip of the penis, the less severe the condition and the easier it is to treat.
Codes in category Q54 Hypospadias are specific to the site of the malpositioned urethral meatus (opening). Hypospadias is classified as follows:
Balanic hypospadias – The urethral meatus is near the tip on the underside of the glans penis; also referred to as glandular, or first-degree hypospadias. When the condition is described as coronal hypospadias, the urethral meatus is located in the coronal sulcus which is also reported with the code for balanic hypospadias and considered to be a first-degree hypospadias as well
Penile hypospadias – The urethral meatus is located on the underside of the penile shaft; also referred to as second-degree hypospadias
Penoscrotal hypospadias – The urethral meatus is located at the junction of the penis and scrotum; also referred to as third-degree hypospadias
Perineal hypospadias – The urethral meatus is located in the perineum near the anus. This is another form of third-degree hypospadias
Other hypospadias – Includes hypospadias due to intersex state
Unspecified hypospadias – Hypospadias without documentation of the site of the urethral meatus
Congenital chordee (Q54.4) is also classified in the hypospadias category. Congenital chordee refers to a downward bowing or curvature of the erect penis and is often associated with hypospadias. Code Q54.4 is also used to report congenital chordee without hypospadias.
Coding and Documentation Requirements
Identify condition:
•Hypospadias
•Congenital chordee
For hypospadias, identify site of urethral meatus:
•Balanic/glanular/coronal
•Penile
•Penoscrotal
•Perineal
•Other specified site
•Unspecified site
ICD-10-CM Code/Documentation
Q54.0
Hypospadias, balanic
Q54.1
Hypospadias, penile
Q54.2
Hypospadias, penoscrotal
Q54.3
Hypospadias, perineal
Q54.8
Other hypospadias
Q54.9
Hypospadias, unspecified
Q54.4
Congenital chordee
Documentation and Coding Example
Patient is a one-month-old Caucasian male who is seen today in Pediatric Urology for hypospadias. Infant was born at 38 weeks gestation via repeat C-section. He voided in the delivery room and was noted to have an abnormal appearing foreskin and glans on initial newborn examination. Parents are of Jewish faith and it was very important for them to have their son circumcised within eight days of his birth. A pediatric urologist who is himself Jewish was called to examine the infant and meet with the family, their Mohel and Rabbi. Family was assured by their religious leaders that it was acceptable under these circumstances to have a urologist perform the circumcision in a hospital when the baby is older. On examination today, the infant is alert and active. Mother states he is breast feeding well, voiding and stooling. Abdomen is soft and round. Testes are descended bilaterally. The glans penis is spatulated with a prepuce cleft ventrally and a dorsally hooded foreskin. There is no chordee appreciated.
Impression: Balanic hypospadias.
Plan: Surgical repair when infant is 9-12 months or when he weighs at least 15 lbs.
Diagnosis Code(s)
Q54.0
Hypospadias, balanic
Coding Note(s)
The spatulated glans penis, ventral prepuce cleft, and dorsally hooded foreskin are commonly associated with balanic hypospadias and are not reported additionally.
Intestinal Atresia and Stenosis
Atresia of the small or large intestine refers to a complete obstruction of a portion of the intestine, while stenosis refers to a smaller than normal lumen with incomplete obstruction, often secondary to a diaphragm or web formation within the stenotic portion. This group of anomalies also includes congenital absence of a portion of the intestine.
Categories Q41 and Q42 contain codes for congenital absence, atresia, and stenosis of the small and large intestines respectively. For the small intestine, there are specific codes for the duodenum (Q41.0), jejunum (Q41.1), ileum (Q41.2), other specified parts of the small intestine (Q41.8), and unspecified part of small intestine (Q41.9). For the large intestine, there are specific codes for the rectum (Q42.0, Q42.1) and anus (Q42.2, Q42.3). The codes for these sites also require documentation of with or without fistula. When the condition affects other specified parts of the large intestine, code Q42.8 is reported and there is also a code for unspecified site in the large intestine (Q42.9).
Coding and Documentation Requirements
Identify site:
•Small intestine
–Duodenum
–Jejunum
–Ileum
–Other specified site
–Unspecified site
•Large intestine
•Anus
–With fistula
–Without fistula
•Rectum
–With fistula
–Without fistula
•Other specified parts of the large intestine
•Unspecified part of the large intestine
ICD-10-CM Code/Documentation
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 specified parts of large intestine
Q42.9
Congenital absence, atresia and stenosis of large intestine, part unspecified
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
Documentation and Coding Example
Procedure Note: Four-day-old infant undergoes therapeutic endoscopy for congenital duodenal stenosis. This Hispanic male was noted to have a distended stomach and duodenum on prenatal ultrasound at 28 weeks while his mother was being monitored for polyhydramnios. Amniocentesis was performed and showed a normal 46 XY chromosome pattern. Mother’s amniotic fluid level normalized by 36 weeks and the labor was induced at 40.5 weeks. She had a SVD, infant’s Apgar scores were good and he went to NICU for monitoring. Initial abdominal x-ray showed dilated stomach and an air filled divided duodenum with very little bowel gas. He was stabilized with IV fluids and on day 2 he had a GI series with contrast that was significant for an area of stenosis in the middle of the duodenum. Case was discussed with Pediatric GI team and surgeons. Decision made to attempt an endoscopic repair in the OR under anesthesia and if unsuccessful the surgical team will perform an open laparotomy. The infant was brought to the OR, intubated, and under monitored anesthesia care the endoscope was passed easily into the stomach and then into the duodenum. A mucosal diaphragm was then encountered which appeared to be the cause of the stenosis. It was ablated with the laser and a balloon catheter was passed though the narrowed duodenum. The stenotic area was dilated successfully and the catheter was withdrawn. There was no bleeding and the endoscope was withdrawn. Patient went to the PACU in good condition.
Diagnosis: Congenital stenosis of the duodenum
Diagnosis Code(s)
Q41.0
Congenital absence, atresia and stenosis of duodenum
Coding Note(s)
There is a specific code for the congenital absence, atresia, and stenosis of the duodenum. A mucosal web or diaphragm is a common finding for the cause of atresia and stenosis of the duodenum and is not reported additionally.
Renal Agenesis / Dysgenesis
Renal agenesis is a condition in which one or both kidneys fail to develop. Unilateral renal agenesis is one of the more common congenital anomalies but is of relatively little concern as long as the single developed kidney is healthy. Bilateral renal agenesis is rare and is associated with Potter’s syndrome which refers to additional malformations caused by low levels of amniotic fluid (oligohydramnios) that are a direct result of the bilateral renal agenesis. Additional malformations in Potter’s syndrome include clubbed feet, pulmonary hypoplasia, and cranial anomalies that occur when there is not enough amniotic fluid to allow the fetus to develop normally. Potter’s syndrome may also be referred to as Potter’s sequence. Renal dysgenesis is a nonspecific term that refers to any form of abnormal development of the kidneys. Renal hypoplasia is a congenital condition in which one or both kidneys are smaller than normal but are normal in shape and retain some function.
Category Q60 Renal agenesis and other reduction defects of the kidney includes conditions documented as congenital absence or atrophy of the kidney and infantile atrophy of the kidney. There are specific codes for renal agenesis and renal hypoplasia, and also a code for Potter’s syndrome. Renal agenesis and renal hypoplasia also require documentation indicating whether one (unilateral) or both (bilateral) kidneys are affected.
Coding and Documentation Requirements
Identify condition:
•Renal agenesis
•Renal hypoplasia
•Potter’s syndrome
Identify laterality:
•Bilateral
•Unilateral
•Unspecified
Note: Potter’s syndrome is always associated with bilateral renal agenesis, so documentation of laterality is not required.
ICD-10-CM Code/Documentation
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
Documentation and Coding Example
Twelve-year-old Caucasian female is seen in Pediatric Urology Clinic for ongoing monitoring and care of solitary kidney. This young lady was identified with a solitary right kidney during a prenatal ultrasound. Patient is a triplet, born at 31 weeks gestation, severely IUGR. She has had an unremarkable childhood with normal illnesses, and one UTI at age 3. She took prophylactic antibiotics for 5 years following that UTI. No repeat infections since discontinuing the antibiotics. Patient had an ultrasound prior to this appointment which is unchanged from previous scans. There is agenesis of the left kidney with an elongated left adrenal gland. Right kidney is slightly larger than normal but has remained stable in size with good renal blood flow. Comprehensive metabolic panel shows normal kidney function, UA negative for protein, RBC, WBC or cast cells. Blood pressure is WNL for age. Patient and her mother are knowledgeable of her condition. She is not playing contact sports but does like to dance. Mother expresses some concerns about Swing dancing because that can be quite physical. Mother is reassured that she should be fine doing that activity.
Impression: Stable size and function of right kidney. Left renal agenesis.
Plan: Continue to monitor yearly, more often if problems arise.
Diagnosis Code(s)
Q60.0
Renal agenesis, unilateral
Coding Note(s)
There is a specific code for unilateral renal agenesis. When there is only one kidney, it is common for it to be larger than normal, and since the physician has documented that it is stable in size and functioning well, no additional code is reported.
Undescended/Ectopic/Retractile Testes
An undescended testis, also called cryptorchidism, refers to a condition where one or both testes have not descended to their normal position within the scrotum. Undescended testes may be palpable or nonpalpable. Intraabdominal testis refers to an undescended testis that remains in the region of origin in the retroperitoneum or abdomen. An ectopic testis is a variant of an undescended testis where the testis lies outside the usual pathway of descent. An ectopic perineal testis is a condition that occurs when the testis descends but instead of descending into the scrotum, it lies in an abnormal position between the penoscrotal raphe and the genitofemoral fold. An inguinal testis is an undescended testicle found in the inguinal canal that has not moved down into the scrotum. In normally descended testicles, only the spermatic cord is located within the inguinal canal. A high scrotal testis can be located within the upper scrotum, but may glide back into the low inguinal canal. Retractile testis refers to the tendency of a descended testis to ascend into the upper part of the scrotum or into the inguinal canal.
Specific documentation is required for codes in category Q53 Undescended and ectopic testicle as there are different codes to identify abdominal vs. ectopic perineal undescended testis, as well as ectopic testicle. Location must also be further identified by laterality. Retractile testis is not classified together with ectopic and undescended testis. The code for retractile testis is in subcategory Q55.2- Other and unspecified congenital malformations of testis and scrotum.
Coding and Documentation Requirements
Identify condition:
•Ectopic testis
•Retractile testis
•Undescended testicle
–Ectopic perineal testis
–Intraabdominal
–Inguinal
–High scrotal
–Unspecified undescended testicle
Identify laterality:
•Bilateral
•Unilateral
•Unspecified
Note: Laterality is not required for retractile testis.
ICD-10-CM Code/Documentation
Q53.00
Ectopic testis, unspecified
Q53.01
Ectopic testis, unilateral
Q53.02
Ectopic testes, bilateral
Q53.10
Unspecified undescended testicle, unilateral
Q53.111
Unilateral intraabdominal testis
Q53.112
Unilateral inguinal testis
Q53.12
Ectopic perineal testis, unilateral
Q53.13
Unilateral high scrotal testis
Q53.20
Undescended testicle, unspecified, bilateral
Q53.211
Bilateral intraabdominal testes
Q53.212
Bilateral inguinal testes
Q53.22
Ectopic perineal testis, bilateral
Q53.23
Bilateral high scrotal testes
Q53.9
Undescended testicle, unspecified
Q55.22
Retractile testicles
Documentation and Coding Example
Six-week-old Black male is seen for well-baby check-up. This infant was born at 33 weeks, product of a twin gestation to a 42-year-old G4 P0. He had an excellent neonatal period, required supplemental O2 for one week but did not require intubation. Was weaned to an open crib at 2 weeks and was nipple feeding and gaining weight by 4 weeks. He and his sister have been home for one week. Weight 2450 kg, Length 44 cm, HC 31 cm. He is being fed expressed breast milk exclusively. On examination, this is a quiet but very alert infant. He has a narrow head, open sutures, and soft fontanelles. PERRL. Strong suck with patent nares. Heart rate regular, breath sounds clear and equal bilaterally. Abdomen soft and round. Liver and spleen are not palpated. Umbilicus without drainage. Hips without clicks. Penis uncircumcised, foreskin easily retracts. Left testicle is palpated in scrotum. Right testicle can be palpated in the inguinal canal and moved partially into the scrotum but retracts back when pressure is released.
Impression: Stable preemie. Right undescended inguinal testicle.
Plan: Refer to Peds Urology.
Diagnosis Code(s)
Q53.112
Unilateral inguinal testis
Coding Note(s)
The code for unilateral inguinal testis is reported because the documentation identifies that the right testicle is located within the inguinal canal, even though it can be temporarily manipulated into the upper scrotum.
Summary
Congenital malformations, deformations, and chromosomal abnormalities require precise documentation to assign the most specific code. This may include documentation with terms such as hypoplasia of the kidney rather than dysgenesis of the kidney. For paired organs, documentation should also specify whether one (unilateral) or both (bilateral) organs are affected. Some conditions require documentation regarding the characteristics of the congenital anomaly, such as hypospadias, which now requires identification of the location of the urethral opening. Other conditions, such as cleft palate and cleft lip, require an understanding of classification changes. Cleft palate and cleft lip are not designated as complete or incomplete. For cleft palate, the condition must be documented as affecting the hard and/or the soft palate and/or uvula. Physicians and coders should review current ICD-10-CM codes for conditions that are commonly seen for treatment in the physician’s office so that documentation practices can be reviewed and any documentation deficiencies corrected.
Resources
The following documentation checklists are included in Appendix A:
•Undescended/Retractile Testes
Chapter 16 Quiz
1.Which of the following conditions is not reported with a code from Chapter 17 Congenital Malformations, Deformations, and Chromosomal Abnormalities?
a.Potter’s syndrome
b.Albinism
c.Biliary atresia
d.Retractile testis
2.What additional information for a diagnosis of retractile testis is required to assign the most specific code?
a.Unilateral/bilateral
b.Abdominal/ectopic
c.Right/left/bilateral
d.None of the above
3.The physician has documented that the patient has Arnold-Chiari syndrome. Is this documentation specific enough to assign a diagnosis code?
a.No, the physician must document the condition as Type II, Type III or Type IV
b.No, this terminology is no longer used and the physician must be asked to document the condition as an encephalocele, hydrocephalus, or another specific central nervous system anomaly
c.Yes, Arnold Chiari syndrome not otherwise specified is reported as Type II
d.No, the condition must be more specifically identified as with or without spina bifida and/or hydrocephalus
4.What condition is not reported with a code from category Q60 Renal agenesis and other reduction defects of the kidney?
a.Congenital absence of the kidney
b.Polycystic kidney disease
c.Infantile atrophy of the kidney
d.Potter’s syndrome
5.The physician has documented that a male infant has unilateral undescended testes. Does this documentation allow assignment of the most specific code for the condition?
a.Yes, the only additional information captured for undescended testes is whether one (unilateral) or both (bilateral) testes are undescended and the physician has already documented the condition as unilateral
b.No, the physician should have documented the condition as right or left
c.No, a more specific code could be assigned if the physician had also documented the condition as ectopic, ectopic perineal, intraabdominal, inguinal, or high scrotal testis
d.No, laterality is not a component of the code, but rather the site is a component of the code
6.What is the principal diagnosis on the inpatient facility claim for the birth admission of a newborn with a congenital anomaly?
a.The principle diagnosis is dependent on whether there are other conditions complicating the birth or other aspects of the birth admission
b.The principal diagnosis is always the congenital anomaly
c.The congenital anomaly may be the principal diagnosis or a secondary diagnosis
d.A code from category Z38 is reported as the principle diagnosis
7.What code is assigned for a patient with a congenital malformation who has had the condition surgically repaired or corrected earlier in life?
a.The code for the congenital malformation continues to be reported throughout the patient’s life
b.A code identifying a personal history of the congenital malformation is reported
c.No code is reported
d.A code identifying a personal history of the congenital malformation is reported with a code from Chapter 17 to identify the specific condition that was corrected.
8.When an older child or an adult is diagnosed with a congenital anomaly that was not previously diagnosed in infancy, how is the condition coded?
a.If the physician documentation supports a diagnosis of congenital anomaly, then the code for the congenital anomaly is assigned, at any time throughout the life of the patient
b.Codes for congenital conditions can only be assigned in infancy, so a code is not assigned
c.Codes for congenital conditions can only be assigned in infancy, so a code for an acquired condition is assigned
d.None of the above
9.The physician has documented that the patient has a unilateral incomplete cleft palate. What code is assigned?
a.Q35.1 Cleft hard palate
b.Q35.3 Cleft soft palate
c.Q35.5 Cleft hard palate with cleft soft palate
d.Q35.9 Cleft palate, unspecified
10.The physician has documented that the patient has a first-degree hypospadias. What is another term for first-degree hypospadias?
a.Balanic
b.Glandular
c.Coronal
d.All of the above
Chapter 16 Answers and Rationales
1.Which of the following conditions is not reported with a code from Chapter 17 Congenital Malformations, Deformations, and Chromosomal Abnormalities?
b.Albinism
Rationale: Albinism is classified as an inborn error of metabolism and is reported with codes from Chapter 4 Endocrine, Nutritional and Metabolic Diseases.
2.What additional information for a diagnosis of retractile testis is required to assign the most specific code?
d.None of the above
Rationale: There is a single code, Q55.22 for retractile testis so no additional information is required to assign the most specific code.
3.The physician has documented that the patient has Arnold-Chiari syndrome. Is this documentation specific enough to assign a diagnosis code?
c.Yes, Arnold Chiari syndrome not otherwise specified is reported as Type II
Rationale: A specific code can be assigned with only a documented diagnosis of Arnold Chiari syndrome. Code Q07.00 Arnold Chiari syndrome (Type II) without spina bifida or hydrocephalus is the default code for Arnold Chiari syndrome not otherwise specified.
4.What condition is not reported with a code from category Q60 Renal agenesis and other reduction defects of the kidney?
b.Polycystic kidney disease
Rationale: Polycystic kidney disease is classified in category Q61, Cystic kidney disease. All of the other conditions are classified in Category Q60.
5.The physician has documented that a male infant has unilateral undescended testes. Does this documentation allow assignment of the most specific code for the condition?
c.No, a more specific code could be assigned if the physician had also documented the condition as ectopic, ectopic perineal, intraabdominal, inguinal, or high scrotal testis
Rationale: The condition must be documented as unilateral/bilateral and the specific location of the undescended testis as intraabdominal, ectopic, ectopic perineal, inguinal, or high scrotal must also be specified in order to assign the most specific code. Documentation of unilateral undescended testis is reported with code Q53.10 Unspecified undescended testicle, unilateral.
6.What is the principal diagnosis on the inpatient facility claim for the birth admission of a newborn with a congenital anomaly?
d.A code from category Z38 is reported as the principle diagnosis
Rationale: The principle diagnosis for the birth admission of a liveborn infant is always a code from category Z38 Liveborn infant according to place of birth and type of delivery. Any conditions complicating the care of the newborn are reported as secondary diagnoses.
7.What code is assigned for a patient with a congenital malformation who has had the condition surgically repaired or corrected earlier in life?
b.A code identifying a personal history of the congenital malformation is reported
Rationale: Coding guidelines state that if the congenital malformation or deformity has been corrected, a personal history code should be used to identify the history of the malformation or deformity.
8.When an older child or an adult is diagnosed with a congenital anomaly that was not previously diagnosed in infancy, how is the condition coded?
a.If the physician documentation supports a diagnosis of congenital anomaly, then the code for the congenital anomaly is assigned, at any time throughout the life of the patient
Rationale: Although present at birth, the congenital malformation, deformation, or chromosomal abnormality may not be diagnosed until later in life and it is appropriate to assign a code from Chapter 17 when the physician documentation supports a diagnosis of a congenital anomaly.
9.The physician has documented that the patient has a unilateral incomplete cleft palate. What code is assigned?
d.Q35.9 Cleft palate, unspecified
Rationale: Cleft palate is not classified as unilateral/bilateral or complete/incomplete. There is no documentation related to whether the hard or soft palate is involved, so the nonspecific code Q35.9 Cleft palate, unspecified is assigned.
10.The physician has documented that the patient has a first-degree hypospadias. What is another term for first-degree hypospadias?
d.All of the above
Rationale: First degree hypospadias is an alternate term used to describe the least severe form of hypospadias in which the urethral opening is located on the head or glans of the penis, or the coronal sulcus. The terms balanic and glandular are synonymous and are used to describe hypospadias where the urethral meatus is located on the ventral glans penis. The urethral meatus is located in the coronal sulcus in coronal hypospadias which is reported with the same code as balanic hypospadias (Q54.0).