Information for Patients
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. To find others, like heart defects, doctors use special tests. Birth defects can range from mild to severe. Causes can include
- Exposures to medicines or chemicals. For example, alcohol abuse can cause fetal alcohol syndrome.
- Infections during pregnancy
- Certain medicines. Before you get pregnant, talk to your health care provider about any medicines you take.
- Not getting enough of certain nutrients. For example, not getting enough folic acid before and during pregnancy is a key factor in causing neural tube defects.
For most birth defects, the cause is unknown.
Health care providers can diagnose certain birth defects during pregnancy, with prenatal tests. That's why it important to get regular prenatal care. Other birth defects may not be found until after the baby is born. Sometimes the defect is obvious right away. Other times, the health care provider may not discover it until later in life.
Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies.
Centers for Disease Control and Prevention
- Intersex (Medical Encyclopedia)
The esophagus is the muscular tube that carries food and liquids from your mouth to the stomach. You may not be aware of your esophagus until you swallow something too large, too hot, or too cold. You may also notice it when something is wrong. You may feel pain or have trouble swallowing.
The most common problem with the esophagus is GERD (gastroesophageal reflux disease). With GERD, a muscle at the end of your esophagus does not close properly. This allows stomach contents to leak back, or reflux, into the esophagus and irritate it. Over time, GERD can cause damage to the esophagus.
Other problems include heartburn, cancer, and eosinophilic esophagitis. Doctors may use various tests to make a diagnosis. These include imaging tests, an upper endoscopy, and a biopsy.
Treatment depends on the problem. Some problems get better with over-the-counter medicines or changes in diet. Others may need prescription medicines or surgery.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
- Achalasia (Medical Encyclopedia)
- Barrett esophagus (Medical Encyclopedia)
- Bleeding esophageal varices (Medical Encyclopedia)
- Diet and eating after esophagectomy (Medical Encyclopedia)
- EGD discharge (Medical Encyclopedia)
- Esophageal atresia (Medical Encyclopedia)
- Esophageal manometry (Medical Encyclopedia)
- Esophageal perforation (Medical Encyclopedia)
- Esophageal spasm (Medical Encyclopedia)
- Esophageal stricture - benign (Medical Encyclopedia)
- Esophagitis (Medical Encyclopedia)
- Esophagitis - infectious (Medical Encyclopedia)
- Lower esophageal ring (Schatzki) (Medical Encyclopedia)
- Mallory-Weiss tear (Medical Encyclopedia)
- Swallowing problems (Medical Encyclopedia)
- Tracheoesophageal fistula and esophageal atresia repair (Medical Encyclopedia)
- Upper GI and small bowel series (Medical Encyclopedia)
A fistula is an abnormal connection between two parts inside of the body. Fistulas may develop between different organs, such as between the esophagus and the windpipe or the bowel and the vagina. They can also develop between two blood vessels, such as between an artery and a vein or between two arteries.
Some people are born with a fistula. Other common causes of fistulas include
- Complications from surgery
- Diseases, such as Crohn's disease or ulcerative colitis
Treatment depends on the cause of the fistula, where it is, and how bad it is. Some fistulas will close on their own. In some cases, you may need antibiotics and/or surgery.
- Fistula (Medical Encyclopedia)
- Gastrointestinal fistula (Medical Encyclopedia)
Esophageal atresia/tracheoesophageal fistula Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two adjacent passages between four and eight weeks after conception. If this separation does not occur properly, EA/TEF is the result.In esophageal atresia (EA), the upper esophagus does not connect (atresia) to the lower esophagus and stomach. Almost 90 percent of babies born with esophageal atresia also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. A small number of infants have only one of these abnormalities.There are several types of EA/TEF, classified by the location of the malformation and the structures that are affected. In more than 80 percent of cases, the lower section of the malformed esophagus is connected to the trachea (EA with a distal TEF). Other possible configurations include having the upper section of the malformed esophagus connected to the trachea (EA with a proximal TEF), connections to the trachea from both the upper and lower sections of the malformed esophagus (EA with proximal and distal TEF), an esophagus that is malformed but does not connect to the trachea (isolated EA), and a connection to the trachea from an otherwise normal esophagus (H-type TEF with no EA).While EA/TEF arises during fetal development, it generally becomes apparent shortly after birth. Saliva, liquids fed to the infant, or digestive fluids may enter the windpipe through the tracheoesophageal fistula, leading to coughing, respiratory distress, and a bluish appearance of the skin or lips (cyanosis). Esophageal atresia blocks liquids fed to the infant from entering the stomach, so they are spit back up, sometimes along with fluids from the respiratory tract. EA/TEF is a life-threatening condition; affected babies generally require surgery to correct the malformation in order to allow feeding and prevent lung damage from repeated exposure to esophageal fluids.EA/TEF occurs alone (isolated EA/TEF) in about 40 percent of affected individuals. In other cases it occurs with other birth defects or as part of a genetic syndrome (non-isolated or syndromic EA/TEF).
General Equivalence Map Definitions
The ICD-10 and ICD-9 GEMs are used to facilitate linking between the diagnosis codes in ICD-9-CM and the new ICD-10-CM code set. The GEMs are the raw material from which providers, health information vendors and payers can derive specific applied mappings to meet their needs.
- Approximate Flag - The approximate flag is on, indicating that the relationship between the code in the source system and the code in the target system is an approximate equivalent.
- No Map Flag - The no map flag indicates that a code in the source system is not linked to any code in the target system.
- Combination Flag - The combination flag indicates that more than one code in the target system is required to satisfy the full equivalent meaning of a code in the source system.
Index of Diseases and Injuries Definitions
- And - The word "and" should be interpreted to mean either "and" or "or" when it appears in a title.
- Code also note - A "code also" note instructs that two codes may be required to fully describe a condition, but this note does not provide sequencing direction.
- Code first - Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. For such conditions, the ICD-10-CM has a coding convention that requires the underlying condition be sequenced first followed by the manifestation. Wherever such a combination exists, there is a "use additional code" note at the etiology code, and a "code first" note at the manifestation code. These instructional notes indicate the proper sequencing order of the codes, etiology followed by manifestation.
- Type 1 Excludes Notes - A type 1 Excludes note is a pure excludes note. It means "NOT CODED HERE!" An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.
- Type 2 Excludes Notes - A type 2 Excludes note represents "Not included here". An excludes2 note indicates that the condition excluded is not part of the condition represented by the code, but a patient may have both conditions at the same time. When an Excludes2 note appears under a code, it is acceptable to use both the code and the excluded code together, when appropriate.
- Includes Notes - This note appears immediately under a three character code title to further define, or give examples of, the content of the category.
- Inclusion terms - List of terms is included under some codes. 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.
- NEC "Not elsewhere classifiable" - This abbreviation in the Alphabetic Index represents "other specified". When a specific code is not available for a condition, the Alphabetic Index directs the coder to the "other specified” code in the Tabular List.
- NOS "Not otherwise specified" - This abbreviation is the equivalent of unspecified.
- See - The "see" instruction following a main term in the Alphabetic Index indicates that another term should be referenced. It is necessary to go to the main term referenced with the "see" note to locate the correct code.
- See Also - A "see also" instruction following a main term in the Alphabetic Index instructs that there is another main term that may also be referenced that may provide additional Alphabetic Index entries that may be useful. It is not necessary to follow the "see also" note when the original main term provides the necessary code.
- 7th Characters - Certain ICD-10-CM categories have applicable 7th characters. The applicable 7th character is required for all codes within the category, or as the notes in the Tabular List instruct. The 7th character must always be the 7th character in the data field. If a code that requires a 7th character is not 6 characters, a placeholder X must be used to fill in the empty characters.
- With - The word "with" should be interpreted to mean "associated with" or "due to" when it appears in a code title, the Alphabetic Index, or an instructional note in the Tabular List. The word "with" in the Alphabetic Index is sequenced immediately following the main term, not in alphabetical order.