Q43.1 is a billable ICD-10 code used to specify a medical diagnosis of hirschsprung's disease. The code is valid during the fiscal year 2023 from October 01, 2022 through September 30, 2023 for the submission of HIPAA-covered transactions. The code is exempt from present on admission (POA) reporting for inpatient admissions to general acute care hospitals.
The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:
- Aganglionosis of Auerbach's plexus
- Aganglionosis of colon
- Aganglionosis of large intestine
- Central alveolar hypoventilation syndrome
- Congenital central hypoventilation
- Congenital dilatation of colon
- Congenital functional disorders of the colon
- Extensive aganglionosis Hirschsprung disease
- Goldberg Shprintzen megacolon syndrome
- Haddad syndrome
- Hirschsprung disease of rectosigmoid region
- Hirschsprung disease with deafness and polydactyly syndrome
- Hirschsprung disease with nail hypoplasia and dysmorphism
- Hirschsprung disease with type D brachydactyly syndrome
- Hirschsprung disease, ganglioneuroblastoma syndrome
- Hirschsprung's disease
- Idiopathic congenital megacolon
- Long segment Hirschsprung's disease
- Mowat-Wilson syndrome
- Mowat-Wilson syndrome
- Mowat-Wilson syndrome due to monosomy 2q22
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease
- Secondary megacolon - congenital
- Short segment Hirschsprung's disease
- Total colonic aganglionosis
- Total intestinal aganglionosis
- Waardenburg Shah syndrome
- Waardenburg's syndrome
- Waardenburg's syndrome
- Total Intestinal Aganglionosis-. a complete lack of ganglia in the intestine. this is an extremely severe form of hirschsprung disease.
Tabular List of Diseases and Injuries
The Tabular List of Diseases and Injuries is a list of ICD-10 codes, organized "head to toe" into chapters and sections with coding notes and guidance for inclusions, exclusions, descriptions and more. The following references are applicable to this diagnosis code:
Inclusion TermsInclusion Terms
These terms are the conditions for which that code is to be used. The terms may be synonyms of the code title, or, in the case of "other specified" codes, the terms are a list of the various conditions assigned to that code. The inclusion terms are not necessarily exhaustive. Additional terms found only in the Alphabetic Index may also be assigned to a code.
- Congenital (aganglionic) megacolon
Index to Diseases and Injuries References
The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10 code(s). The following references for this diagnosis code are found in the injuries and diseases index:
- - Aganglionosis (bowel) (colon) - Q43.1
- - Hirschsprung's disease or megacolon - Q43.1
- - Ileus (bowel) (colon) (inhibitory) (intestine) - K56.7
- - Macrocolon - See Also: Megacolon; - Q43.1
- - Megacolon (acquired) (functional) (not Hirschsprung's disease) (in) - K59.39
Present on Admission (POA)
Convert to ICD-9 Code
|Source ICD-10 Code||Target ICD-9 Code|
|Q43.1||751.3 - Hirschsprung's disease|
|Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.|
What are birth defects?
A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect.
A birth defect may affect how the body looks, works, or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. Others, like heart disease, are found using special tests. Birth defects can range from mild to severe. How a birth defect affects a child's life depends mostly on which organ or body part is involved and how severe the defect is.
What causes birth defects?
For some birth defects, researchers know the cause. But for many birth defects, the exact cause is unknown. Researchers think that most birth defects are caused by a complex mix of factors, which can include:
- Genetics. One or more genes might have a change or mutation that prevents them from working properly. For example, this happens in Fragile X syndrome. With some defects, a gene or part of the gene might be missing.
- Chromosomal problems. In some cases, a chromosome or part of a chromosome might be missing. This is what happens in Turner syndrome. In other cases, such as with Down syndrome, the child has an extra chromosome.
- Exposures to medicines, chemicals, or other toxic substances. For example, alcohol misuse can cause fetal alcohol spectrum disorders.
- Infections during pregnancy. For example, infection with Zika virus during pregnancy can cause a serious defect in the brain.
- Lack of certain nutrients. Not getting enough folic acid before and during pregnancy is a key factor in causing neural tube defects.
Who is at risk of having a baby with birth defects?
Certain factors may might increase the chances of having a baby with a birth defect, such as:
- Smoking, drinking alcohol, or taking certain "street" drugs during pregnancy
- Having certain medical conditions, such as obesity or uncontrolled diabetes, before and during pregnancy
- Taking certain medicines
- Having someone in your family with a birth defect. To learn more about your risk of having a baby with a birth defect, you can talk with a genetic counselor,
- Being an older mother, typically over the age of 34 years
How are birth defects diagnosed?
Health care providers can diagnose some birth defects during pregnancy, using prenatal testing. That's why it important to get regular prenatal care.
Other birth defects may not be found until after the baby is born. Providers may find them through newborn screening. Some defects, such as club foot, are obvious right away. Other times, the health care provider may not discover a defect until later in life, when the child has symptoms.
What are the treatments for birth defects?
Children with birth defects often need special care and treatments. Because the symptoms and problems caused by birth defects vary, the treatments also vary. Possible treatments may include surgery, medicines, assistive devices, physical therapy, and speech therapy.
Often, children with birth defects need a variety of services and may need to see several specialists. The primary health care provider can coordinate the special care that the child needs.
Can birth defects be prevented?
Not all birth defects can be prevented. But there are things you can do before and during pregnancy to increase your chance of having a healthy baby:
- Start prenatal care as soon as you think you might be pregnant, and see your health care provider regularly during pregnancy
- Get 400 micrograms (mcg) of folic acid every day. If possible, you should start taking it at least one month before you get pregnant.
- Don't drink alcohol, smoke, or use "street" drugs
- Talk to your health care provider about any medicines you are taking or thinking about taking. This includes prescription and over-the-counter medicines, as well as dietary or herbal supplements.
- Learn how to prevent infections during pregnancy
- If you have any medical conditions, try to get them under control before you get pregnant
Centers for Disease Control and Prevention
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Your colon, also known as the large intestine, is part of your digestive system. It's a long, hollow tube at the end of your digestive tract where your body makes and stores stool. Many disorders affect the colon's ability to work properly. Some of these include:
- Colorectal cancer
- Colonic polyps - extra tissue growing in the colon that can become cancerous
- Ulcerative colitis - ulcers of the colon and rectum
- Diverticulitis - inflammation or infection of pouches in the colon
- Irritable bowel syndrome - an uncomfortable condition causing abdominal cramping and other symptoms
Treatment for colonic diseases varies greatly depending on the disease and its severity. Treatment may involve diet, medicines and in some cases, surgery.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
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Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood.
Enteric nerves trigger the muscle contractions that move stool through the intestine. Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with Hirschsprung disease. Other signs and symptoms of this condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. People with this disorder are at risk of developing more serious conditions such as inflammation of the intestine (enterocolitis) or a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be fatal.
There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine (colon). This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. For unknown reasons, short-segment disease is four times more common in men than in women. Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally. Very rarely, nerve cells are missing from the entire large intestine and sometimes part of the small intestine (total colonic aganglionosis) or from all of the large and small intestine (total intestinal aganglionosis).
Hirschsprung disease can occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease can also occur without other conditions, and these cases are referred to as isolated or nonsyndromic.
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- FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
- FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
- FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
- FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
- FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
- FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
- FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
- FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016 (First year ICD-10-CM implemented into the HIPAA code set)