Symptoms of a lateral cyst of the neck (gill cyst) and its treatment. Congenital malformations of the face and neck Additional medicines in the department

Main symptoms:

• Soreness of the neoplasm
• Discharge of pus from a fistula
• Discomfort while talking
• Discomfort when swallowing
• Swelling of the skin around the tumors
• Subcutaneous neoplasm on the neck
• Redness of the skin around the lesions
• neoplasm growth
• Fistula on the neck

The median cyst of the neck is a rarely diagnosed, congenital malformation. It is characterized by the appearance in the neck of a neoplasm with a liquid content. There are lateral and median pathology of the neck. Lateral forms are recognized immediately after the birth of the child, while the median ones may appear as the child grows. Most often, education can be eliminated by surgery, which is carried out in adults and children.

The median cyst of the neck is a tumor-like formation that forms at an early stage (from 3 to 6 weeks) of embryonic development. Sometimes a relationship with a congenital fistula of the neck is traced. There are cases when a fistula is formed as a result of cyst suppuration.

According to statistics, in one out of 10 patients, the median lateral cyst is observed simultaneously with the fistula of the neck. In half of the cases, suppuration of the formation occurs, the fistula develops as a result of self-opening of the abscess through the skin.

The ICD-10 (International Classification of Diseases) code for a median cyst of the neck with a fistula was Q18.4.

Etiology

Nowadays, scientists have not come to a common opinion regarding this kind of pathology. Based on statistics, cases of median cysts account for less than 3% of all cases of cervical neoplasms.

The theory of the origin of the anomalous phenomenon reveals an untimely overgrown thyroid-lingual duct as the cause of the appearance of a cyst.

However, there is another theory that focuses on the fact that tumor-like neoplasms arise from the epithelial cells of the oral cavity, while the thyroid-lingual duct is replaced by a cord. Both theories have not been confirmed and need further research.

To provoke an infection of the formation with a subsequent purulent process can:

• weakened immune system;
• progression of bacterial and viral diseases;
• taking a certain group of drugs.

It is also believed that the presence of diseases in a child in the field of dentistry can serve as an infection in the cyst.

Symptoms

This pathology is characterized by an asymptomatic course. The median cyst of the neck in a child has a slow growth, so immediately after birth it is not always possible to detect it.

They can act as a provocateur of active tumor growth. There are external changes in the neck area, as a small subcutaneous ball appears, which is easily palpated.

The child may have symptoms such as:

• discomfort during swallowing;
• discomfort during a conversation;
• speech defects.

After suppuration of the disease, the symptoms are as follows:

• redness of the skin around the formation;
• puffiness;
• soreness of the neoplasm;
• increase in education in size.

After a certain period of time, a small hole forms at the site of the localization of the cyst, through which the accumulated pus comes out. The skin in the affected area becomes inflamed, the appearance of wounds and cracks is noted. Because of this, infection in the neck area does not have additional difficulties.

Diagnostics

In order to correctly diagnose, the doctor must:

• to examine the patient;
• learn about the presence of chronic diseases, study the medical history;
• clarify the clinical picture of the patient.

Instrumental methods are often used as additional diagnostic methods:

• ultrasound examination of the neck and lymph nodes;
• radiography;
• fistulography, which occurs by probing with the introduction of a contrast agent;
• CT scan;
• puncture.

Differential diagnosis should be carried out with:

• congenital dermoid;
• adenophlegmon;
• streak of tongue.

The doctor may face a number of difficulties during the diagnosis, since the disease has not been fully studied. The most effective method of curing the neoplasm depends on the correct diagnosis.

Treatment

Surgical removal of the median cyst of the neck is the only effective method of dealing with education. Operations can be performed on both adults and children.

Babies operations are carried out only when the cyst threatens the life of the child, that is:

• is very large;
• compresses the trachea;
• a purulent inflammatory process occurs;
• there is a risk to the organism.

Cystectomy is performed under intravenous or endotracheal anesthesia. It guarantees full recovery without the appearance of relapses.

Surgical intervention is carried out as follows:

• the lesion is anesthetized with local anesthesia;
• after the application of anesthesia, an incision is made in the area of ​​the tumor location;
• the cyst capsule, its walls are excised, the contents are removed;
• if an additional fistula is found, a resection of the hyoid bone is performed;
• The incision is closed with a cosmetic suture.

Doctors make incisions parallel to the natural folds of the neck, so the scars after surgery are invisible. The duration of the procedure is from half an hour to an hour and a half, depending on the complexity of the process.

If the surgeon did not completely excise the cyst, leaving part of it inattentively, recurrence of the neoplasm may occur, so you need to seriously approach the choice of a specialist for such an operation.

The prognosis is usually favorable, with timely diagnosis and treatment. There are cases of transformation of cyst cells into malignant ones, however, they are observed extremely rarely, in 1 case per 1500 diseases.

Prevention

The progression of the median cyst of the neck, unfortunately, cannot be prevented. It is necessary to conduct a monthly examination of the child by a pediatrician, since timely diagnosis will help to cure the abnormal phenomenon with the best possible prognosis for the child's life.

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Diseases with similar symptoms:

The wolf's mouth is an anomalous structure of the sky, in the middle of which a gap is clearly visible. This pathology is congenital, in the presence of which newborn babies cannot fully eat and their respiratory function is somewhat impaired. This is due to the fact that there is no septum between the cavities of the mouth and nose, from which the consumed food and liquid enters the nose. Very few children are born with such an ailment, for one thousand babies there is only one who has such a syndrome.

Lateral (branchiogenic) cyst of the neck is a benign congenital tumor. The first symptoms of pathology usually appear in childhood. In some cases, they are detected in newborns. In the vast majority of cases, the disease is diagnosed in patients under 21 years of age. According to statistics, lateral cysts are detected much more often than median ones.

According to the International Classification of Diseases, all cysts of the neck are classified as "Other congenital anomalies (malformations) of the face and neck" and have a code - Q18.

All materials on the site are for informational purposes only. In case of any suspicion of a disease, consult a doctor.

Scientists still argue about the reasons for the development of lateral cysts of the neck, but have not come to a consensus. However, researchers are confident that pathology is directly related to an anomaly in the intrauterine development of the fetus. In other words, the formation of a cystic neoplasm begins in the first trimester of pregnancy.

It is known that in the first weeks of development, a certain number of gill arches are laid in the fetus, which, in the normal course of the process, are the basis for the formation of the structure of the neck and head, and the remaining number gradually overgrows. But with abnormal development, this does not happen and the remaining gill arches do not overgrow, gradually leading to the formation of various cervical cysts.

Despite the fact that branchiogenic cysts are a congenital pathology, doctors note that often the active growth of a neoplasm is preceded by injuries or infectious diseases, for example, SARS, tonsillitis, influenza.

Reference! There is a version that the pathogenic microflora, with the listed diseases, penetrates into the formed branchiogenic cracks, provokes the inflammatory process of the epithelial membrane and the production of exudate and mucus. As a result, there is a stretching of the gap and the formation of a cyst.

Clinical picture

Diagnosing a lateral cyst of the neck immediately after birth is problematic. The thing is that most often at the initial stage, the pathology develops asymptomatically, and the small size of the tumor does not make it possible to detect it visually. In addition, a number of diseases have similar symptoms, which also makes diagnosis difficult. But there are a number of signs characteristic of lateral cysts of the neck:

• swollen lymph nodes;
• tissue swelling localized in the area of ​​the carotid artery;
• unpleasant pain sensations.

With an exacerbation of the disease, the sternocleidomastoid muscle is often affected. As a result, the child may experience a restriction in the mobility of the neck, fever, intoxication. In some cases, there is a displacement of the larynx.

If a purulent process has occurred in the cyst, what clinical manifestations may be as follows:

• difficulty in swallowing food;
• speech disorder;
• shortness of breath;
• heaviness in the esophagus.

Attention! With branchiogenic cysts of the neck in the larynx, characteristic whistling sounds may appear during breathing.

Diagnostic methods

The diagnosis in this case is made on the basis of the patient's history and the presence of characteristic signs of the disease. To confirm his assumptions, the doctor sends the patient for a puncture with fluid sampling and further cytological examination.

Additionally, studies such as:

• sounding;
• fistulography using a contrast agent.

In addition, lateral cysts of the neck must be differentiated from other diseases. So, in a non-infectious process, lipoma, lymphogranulomatosis, neurinoma have similar symptoms. And with a purulent course of the process, the cervical cyst is differentiated from lymphadenitis and adenophlegmon.

Treatment of pathology

Getting rid of the lateral cyst of the neck is possible only by surgery. The complexity of the operation and the nature of its implementation directly depends on the following factors:

• stage of the disease;
• the presence or absence of an inflammatory process;
• patient's age;
• neoplasm size;
• the presence of comorbidities.

Attention! With a purulent process in the acute stage, the operation is not prescribed.

In this case, before removing the branchiogenic cyst, the patient is treated with antibiotics and anti-inflammatory drugs.

The operation is performed under anesthesia, while its traumatism is minimal.. The specialist makes a small incision, which heals without leaving scars and scars.

Forecast

In the vast majority of cases, the prognosis for treatment with lateral cysts of the neck is favorable. The risk of tumor degeneration into malignant is minimal. According to statistics, the risk of recurrence does not exceed 10%, and then it is possible only with errors during removal (incomplete excision of fistulas and left side holes).

A neck cyst is a hollow tumor-like formation located on the anterior or lateral surface of the neck. It is formed with violations in the early stages of embryonic development. In some cases, it is combined with a congenital fistula of the neck. Sometimes a fistula is formed already in childhood or even adulthood as a result of cyst suppuration. Perhaps the degeneration of the cyst of the neck into a malignant tumor. Treatment is surgical only.
Lateral cysts of the neck are usually detected at birth, median cysts are found at the age of 4-7 or 10-14 years, sometimes they are asymptomatic. In one of 9-10 patients, a lateral cyst is observed in combination with a congenital fistula of the neck. In about 50% of cases, cysts suppurate, and a fistula is formed as a result of emptying the abscess through the skin.

Lateral cysts of the neck.

Median cysts of the neck.

• auricle congenital
• cervico-ear

Pretragus sinus and cyst

Gill slit anomaly NOS

Congenital lip hypertrophy

Medial:

• face and neck cyst
• fistula of the face and neck
• sinus of the face and neck

Congenital malformation of face and neck NOS

In Russia, the International Classification of Diseases of the 10th revision (ICD-10) is adopted as a single regulatory document for accounting for morbidity, reasons for the population to apply to medical institutions of all departments, and causes of death.

ICD-10 was introduced into healthcare practice throughout the Russian Federation in 1999 by order of the Russian Ministry of Health dated May 27, 1997. №170

The publication of a new revision (ICD-11) is planned by WHO in 2017 2018.

With amendments and additions by WHO.

Processing and translation of changes © mkb-10.com

Neck cyst - symptoms and treatment

• Weakness
• Nausea
• Dizziness
• Vomit
• Intoxication
• subfebrile temperature
• lethargy
• Redness of the skin at the site of injury
• Increased temperature in the affected area
• Discharge of pus from a fistula
• General deterioration
• Swelling in the affected area
• Pain with pressure on the neoplasm
• Bump on the neck
• Inability to fully flex the neck
• Baby can't hold his head

A neck cyst is a tumor-like formation of a hollow type, which is located on the lateral or anterior surface of the neck, most often of a congenital nature, but may be the result of a congenital fistula of the neck. Lateral cysts are the result of a congenital pathology of fetal development, while the median cyst of the neck in a child is diagnosed at the age of 4 to 7 years, and can often be asymptomatic. In half of the cases, the neoplasm suppurates, which leads to the emptying of the abscess and the formation of a fistula.

Treatment is surgical only. Puncture is used extremely rarely, since the accumulation of liquid or mushy mass occurs again after a while. According to the international classification of diseases, this pathological process belongs to other congenital anomalies of the face and neck. The ICD-10 code is Q18.

Causes of the disease

Lateral or branchial cyst of the neck, in most cases, is a congenital pathology and is diagnosed at birth. This happens due to the abnormal development of the gill slit and arches, the formation of a hollow neoplasm occurs at 4–6 weeks of gestation.

It should be noted that the lateral cyst of the neck is more dangerous than the median form, since in most cases, in the absence of timely treatment, it degenerates into a malignant formation. Also, when growing, this form of a neck cyst can compress the nerve endings and nearby organs, which can lead to concomitant pathological processes. As well as other forms of hollow tumor-like formations, it can spontaneously open and lead to non-healing gill fistulas.

The median cyst in adults (thyroglossal) may be the result of such etiological factors:

In 60% of cases, the median cyst of the neck suppurates, which can cause impaired swallowing function and speech. In some cases, such a neoplasm spontaneously opens, which leads to the formation of a fistula.

The exact causes of the development of the pathology of the gill gap and arches during fetal development have not been established. However, clinicians identify such possible predisposing factors:

• genetic predisposition - if there is such a pathological process in the anamnesis of the parents or one of them, a similar clinical manifestation can be observed in the newborn;
• severe stress, constant nervous tension of the mother during childbearing;
• alcohol abuse and smoking;
• treatment with "heavy" drugs during pregnancy, especially in the early stages. This should include antibiotics, anti-inflammatory, painkillers, corticosteroids;
• systemic diseases in the mother;
• the presence of chronic diseases.

If your child has this symptom, you should immediately consult a doctor. It is extremely dangerous to ignore such a clinical manifestation, since there is a high probability of the neoplasm degenerating into a malignant tumor.

Disease classification

There are two main types of neoplasms on the neck:

• lateral or branchiogenic;
• median or thyroglossal.

Lateral cysts, in turn, are divided into:

Localization of cysts and fistulas of the neck

According to the structure and principle of education, the following forms of neoplasms are distinguished:

• dermoid cyst of the neck - refers to congenital pathologies, lies on the surface, does not attach to the pharynx. As a rule, such a neoplasm is filled with cells of the sebaceous and sweat glands, hair follicles;
• gill - located in the area of ​​\u200b\u200bthe bone under the tongue, consists of the epithelium of the pockets of the gills.

The following classification of neck cysts can also be used, according to the nature of education and localization:

• hygroma - a soft and smooth formation, which is located in the lower cervical region;
• venous hemangioma;
• primary lymphoma - a group of soldered compacted nodes;
• neurofibroma - motionless, dense in consistency formations, diameter from 1 to 4 centimeters;
• thyroid-lingual - can be localized in the larynx and neck, moves up or down during swallowing;
• fatty tumors.

Regardless of the etiology of the neoplasm, it is subject to surgical removal, since there is almost always a risk of transition to a malignant form.

Symptoms of the disease

Some forms of neoplasms on the neck in children or adults may be asymptomatic for a long time. As the tumor grows, the following symptoms may be present:

• inability to fully flex the neck;
• on palpation of the neoplasm, pain is felt;
• the tumor is mobile, the skin is unchanged, but redness is possible;
• the child cannot hold his head;
• weakness, lethargy;
• subfebrile body temperature, local temperature increase is also possible;
• signs of general intoxication of the body - nausea, vomiting, general malaise.

If the process of suppuration has begun, then the following symptoms of the clinical picture may be present:

• local redness of the skin, swelling;
• increased body temperature;
• weakness, dizziness;
• severe pain on palpation;
• purulent exudate flows out, less often into the oral cavity;
• the skin around the mouth may be covered with crusts.

In the presence of such clinical signs, medical attention should be sought immediately. A purulent process can lead to an abscess, phlegmon and other life-threatening diseases.

Neck cyst symptoms

It should be understood that the release of purulent exudate cannot be regarded as recovery and the exclusion of the need to see a doctor. The formed fistula never heals on its own, and the accumulation of fluid in the tumor almost always occurs again after a while. In addition, the risk of malignancy increases significantly.

Diagnostics

First of all, a physical examination of the patient with palpation of a cyst on the neck is performed. Also during the initial examination, the doctor should collect a personal and family history.

To clarify the diagnosis, the following laboratory and instrumental research methods can be carried out:

• puncture of fluid from a hollow formation for subsequent histological examination;
• blood test for tumor markers;
• neck ultrasound;
• fistulography;
• CT if necessary.

General clinical blood and urine tests, in this case, are not of diagnostic value, therefore, they are carried out only if necessary.

Treatment of the disease

In this case, the treatment is only operable, conservative methods are not effective. The puncture is used only in the most extreme cases, when the operation is not possible for medical reasons. Most often this applies to older people. In this case, aspiration of the contents of the tumor is carried out, followed by washing with antiseptic solutions.

As for the traditional removal of a neck cyst, such an operation is performed under anesthesia, excision can be carried out both through the mouth and externally, depending on clinical indicators. To prevent recurrence, excision is carried out together with the capsule.

Removal of lateral tumors is more difficult, since the neoplasm is localized near the vessels and nerve endings.

If the patient was admitted already with a purulent process and formation, then the tumor will be opened and drained, followed by removal of the fistulas. All fistulas, even thin and inconspicuous, are subject to excision, as they can cause a relapse. To clarify their localization, the surgeon may first inject a coloring agent (methylene blue, brilliant green).

After the operation, the patient is prescribed anti-inflammatory and antibacterial therapy. Regular dressings should also be carried out with the obligatory treatment of the oral cavity with antiseptic substances.

In the postoperative period, the patient should follow a diet that includes the following:

• from the diet for the period of treatment, it is necessary to exclude acidic, spicy and too salty, coarse food;
• drinks and dishes should be consumed only warm;
• dishes should be liquid or puree.

If surgery is carried out in a timely manner, then the risk of recurrence or the development of an oncological process is practically absent. Long-term rehabilitation is not required.

Prevention

Unfortunately, in this case there are no effective methods of prevention. It is strongly recommended not to self-medicate and consult a qualified doctor in a timely manner. In this case, the risk of complications is minimal.

If you think that you have a neck cyst and the symptoms characteristic of this disease, then doctors can help you: a surgeon, a therapist, a pediatrician.

We also suggest using our online disease diagnostic service, which, based on the symptoms entered, selects probable diseases.

Neck cyst - main varieties and treatment

A neck cyst is a benign neoplasm, the cavity of which is filled with fluid, hair follicles, and connective tissue. In accordance with the international classification of ICD-10, the median cyst of the neck is included in the Q10-Q18 block. In most cases, it is localized from the front or side (lateral ones are diagnosed in 60% of cases), less often - on the back of the neck in the spine area. Pathology is rarely accompanied by discomfort, there is no pain syndrome, the cyst does not affect the usual way of life, you can live with it without problems until old age. Sometimes there is a threat of transformation of such a tumor into a malignant one, in such cases urgent removal is required.

Pathology is diagnosed quite rarely, it occurs in 2-5% of all tumors of the maxillofacial zone and the cervical region.

Development mechanism

A cyst on soft tissues is formed due to pathological processes occurring at the stage of embryonic development, most often a neoplasm is diagnosed within the first year after the birth of a baby. With localization in front, a congenital cyst may remain invisible for a long time and is detected in adolescence.

Most often, the cyst is not dangerous, but some varieties, cystic hygroma in particular, cause intrauterine death of the child.

Classification

There are several groups of classifications according to the structure of the tumor and the location (front, side, back).

Varieties by the nature of education:

• branchiogenic cyst (gill) - is formed as a result of pathologies in the development of the embryo, during its growth, non-overgrowing gill pockets are filled with liquid;
• dermoid cyst of the neck - filled with cells of the sebaceous and sweat glands, connective tissue;
• lymphogenous - occurs as a result of dysfunctions in the development of lymph, filled with serous fluid;
• cystic - common among children, in 90% of cases surgical intervention is required;
• epidermal - is formed due to clogging of the sebaceous glands with epidermal cells, occurs near the spine at the hairline.
• the median cyst develops as a result of injuries, infections, diseases of the blood and lymph, in 50% of cases the pathology is accompanied by suppuration, the formation of fistulas that open into the oral cavity or out; purulent fluid comes out through the fistulas, its penetration into the body can cause severe intoxication.

Symptoms

Neoplasms less than 1 cm are visually invisible, only a professional doctor can establish its presence.

The symptomatology is somewhat different depending on the type of neoplasm, on examination it is defined as an elastic tumor, painless when pressed. With a lateral cyst, the signs can be confused with other pathologies of the cervical region, most often a benign neoplasm appears after mechanical damage or bacterial / viral infection.

As a result, the following symptoms occur:

• tissue swelling, pain when swallowing;
• neoplasm mobility;
• inflammation of the lymph nodes;
• deformation of the larynx;
• abscess - after filling with pus and inflammation, an abscess or sepsis develops, which leads to blood poisoning, tissue inflammation, necrosis and infection of the whole organism.

Diagnostics

Symptoms are often hidden, only a routine medical examination helps to identify the disease. When diagnosing a benign tumor, the capsule is checked for carcinomas, their presence is considered a dangerous complication of the disease.

• studying the patient's condition, checking cases of cancer among relatives;
• primary palpation of the affected area;
• tomography and histological examination;
• puncture, microbiological examination of cells filling the neoplasm.

Treatment

Surgical removal is considered the only way to treat a cyst; drug therapy is ineffective. In children, the operation is performed after reaching the age of three - in adults after the detection of pathological symptoms. The method of removal is chosen after a thorough study of the neoplasm, establishing its variety, size and other individual characteristics. The duration of the operation does not exceed an hour; general anesthesia is required for its implementation. The intervention requires professionalism and attention, incomplete removal threatens to relapse, the operation is performed on an outpatient basis, there is no need for hospitalization.

Cystic formations are sensitive to any thermal procedures, therefore self-medication in this case is strictly contraindicated, compresses and lotions can cause damage to the body.

Indications for surgery:

• exceeding the size of the tumor by 1 cm;
• pain sensations;
• Difficulties in swallowing and pronouncing phrases.

Features of the operation:

1. Operability plays an important role; in case of serious diseases and old age, the operation is contraindicated. Instead, the contents of the neoplasm are removed, after which the cavity is cleaned with antiseptic agents.
2. Exacerbation of the inflammatory process - the cavity is opened, drainage is performed, pus is removed, the operation is performed after 2-3 weeks of anti-inflammatory therapy, repeated washing of the capsule is allowed. Sometimes there is no need for surgical intervention, since the cavity heals by itself.
3. Removal of small cysts can be done through the oral cavity, this method avoids the formation of sutures.
4. Large tumors are removed through skin incisions, special care is required when removing lateral tumors, as they affect the nerves.
5. The median cyst is connected to the hyoid bone, so the tumor is removed along with part of it.
6. The operation is complicated by the presence of fistulas, the contrast agent helps to identify all the thin exits of which. With lateral localization of the cyst, the situation is aggravated by the presence of large blood vessels.

After the operation, the doctor prescribes antibiotic therapy and anti-inflammatory drugs, physiotherapy is indicated as an additional treatment. The sutures are removed one week after the operation.

The likelihood of relapse increases with diagnosed lymphadenitis, a course of special rinses will help to avoid re-formation of a cyst, spicy and rough dishes should be excluded from the diet.

Prevention

A neck cyst is a congenital disease, so preventive measures are often absent; regular preventive examinations will help prevent suppuration. An experienced doctor diagnoses a cyst at an early stage of development, after which an operation is performed.

Forecast

Since the only treatment is surgery, there is a risk of complications. In 95% of cases, the intervention ends successfully, the prognosis depends on the recovery period, and malignant foci detected during the operation may be dangerous.

Conclusion

A cyst of the neck is a congenital disease that is quite rare, most often diagnosed in childhood. The tumor is visually noticeable, the symptoms are expressed with mechanical damage or bacterial, viral infection. Surgical intervention is considered the main method of treatment, the choice of excision method depends on the type and characteristics of the tumor. After the operation, medication is prescribed, the prognosis is most often positive.

ICD 10. Class XVII (Q00-Q99)

ICD 10. CLASS XVII. CONGENITAL ABNORMALITIES [DEVELOPMENTAL DEFORMS], DEFORMATIONS AND CHROMOSOMAL DISORDERS

Excludes: congenital metabolic disorders (E70-E90)

This class contains the following blocks:

Q00-Q07 Congenital malformations of the nervous system

Q10-Q18 Congenital malformations of the 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 palate [cleft lip and palate]

Q38-Q45 Other congenital malformations of the digestive system

Q50-Q56 Congenital malformations of genital organs

Q60-Q64 Congenital malformations of the urinary system

Q65-Q79 Congenital malformations and deformities of the musculoskeletal system

Q90-Q99 Chromosomal disorders, not elsewhere classified

CONGENITAL MALIGNATIONS OF THE NERVOUS SYSTEM (Q00-Q07)

Q00 Anencephaly and similar malformations

Q00.0 Anencephaly. Acephaly. Acrania. Amyelencephaly. Hemianencephaly. hemicefalia

Q01 Encephalocele

Q01.1 Nasal frontal encephalocele

Q01.2 Occipital encephalocele

Q01.8 Encephalocele of other areas

Q01.9 Encephalocele, unspecified

Q02 Microcephaly

Excludes: Meckel-Gruber syndrome (Q61.9)

Q03 Congenital hydrocephalus

Includes: hydrocephalus of the newborn

Q03.0 Congenital malformation of aqueduct of Sylvian

Q03.1 Atresia foramen of Magendie and Luschka. Dandy Walker Syndrome

Q03.8 Other congenital hydrocephalus

Q03.9 Congenital hydrocephalus, unspecified

Q04 Other congenital malformations [malformations] of the brain

Q04.0 Congenital malformation of corpus callosum Agenesis of the corpus callosum

Q04.3 Other reduction brain deformities

Aplasia > parts of the brain

Agiriya. Hydranencephaly. Lisencephaly. Microgyria. pachygia

Excludes: congenital malformation of corpus callosum (Q04.0)

Q04.4 Septo-optic dysplasia

Q04.6 Congenital cerebral cysts. Porencephaly. schizencephaly

Excludes: acquired porencephalic cyst (G93.0)

Q04.8 Other specified congenital malformations of brain Macrogyria

Q04.9 Congenital malformation of brain, unspecified

Illness or injury > brain NOS

Q05 Spina bifida

Includes: hydromeningocele (spinal)

spina bifida (aperta) (cystica)

Excludes: Arnold-Chiari syndrome (Q07.0)

Q05.0 Spina bifida in cervical region with hydrocephalus

Q05.1 Thoracic spina bifida with hydrocephalus

Thoracolumbar > with hydrocephalus

Q05.2 Spina bifida in the lumbar region with hydrocephalus. Lumbosacral spina bifida with hydrocephalus

Q05.3 Sacral spina bifida with hydrocephalus

Q05.4 Spina bifida with hydrocephalus, unspecified

Q05.5 Spina bifida in cervical region without hydrocephalus

Q05.6 Thoracic spina bifida without hydrocephalus

Q05.7 Spina bifida in the lumbar region without hydrocephalus. Lumbosacral spina bifida NOS

Q05.8 Spina bifida in sacral region NOS

Q05.9 Spina bifida, unspecified

Q06 Other congenital malformations of spinal cord

Q06.1 Hypoplasia and dysplasia of the spinal cord. Atelomyelia. Myelatelia. Myelodysplasia of the spinal cord

Q06.3 Other malformations of cauda equina

Q06.4 Hydromyelia. hydrorachis

Q06.8 Other specified malformations of spinal cord

Q06.9 Congenital malformation of spinal cord, unspecified

Deformity > spinal cord or meninges

Q07 Other congenital malformations [malformations] of the nervous system

Excludes: familial dysautonomy [Riley-Day] (G90.1)

neurofibromatosis (non-malignant) (Q85.0)

Q07.0 Arnold-Chiari syndrome

Q07.8 Other specified malformations of nervous system Nerve agenesis. Displacement of the brachial plexus

Trembling jaw syndrome. Marcus Gunn Syndrome

Q07.9 Malformation of nervous system, unspecified

Deformity > nervous system NOS

CONGENITAL MALIGNATIONS [MAILS OF DEVELOPMENT] OF THE EYE, EAR, FACE AND NECK (Q10-Q18)

Q10 Congenital malformations [malformations] of the eyelid, lacrimal apparatus and orbit

Q10.1 Congenital ectropion

Q10.2 Congenital entropion

Q10.3 Other eyelid malformations. ablefaria

Absence or agenesis:

Blepharophimosis is congenital. Coloboma of the century. Congenital malformation of eyelid NOS

Q10.4 Absence or agenesis of the lacrimal apparatus. Absence of lacrimal opening

Q10.5 Congenital stenosis and stricture of lacrimal duct

Q10.6 Other malformations of the lacrimal apparatus. Congenital malformation of lacrimal apparatus NOS

Q10.7 Malformation of orbit

Q11 Anophthalmos, microphthalmos and macrophthalmos

Q11.0 Eyeball cyst

Q11.1 Anophthalmos other

Q11.2 Microphthalmos Cryptophthalmos NOS. Dysplasia of the eye. Hypoplasia of the eye. vestigial eye

Excludes: cryptophthalmos syndrome (Q87.0)

Excludes: macrophthalmos in congenital glaucoma (Q15.0)

Q12 Congenital malformations [malformations] of the lens

Q12.0 Congenital cataract

Q12.1 Congenital lens displacement

Q12.8 Other congenital malformations of lens

Q12.9 Congenital malformation of lens, unspecified

Q13 Congenital malformations [malformations] of the anterior segment of the eye

Q13.0 Coloboma of the iris. Coloboma NOS

Q13.1 Absence of iris. Aniridia

Q13.2 Other malformations of the iris. Anisocoria is congenital. Pupil atresia. Congenital anomaly of iris NOS

Q13.3 Congenital corneal opacity

Q13.4 Other malformations of the cornea. Congenital anomaly of the cornea NOS. Microcornea. Peter's anomaly

Q13.8 Other congenital malformations of the anterior segment of the eye. Rieger anomaly

Q13.9 Congenital malformation of anterior segment of eye, unspecified

Q14 Congenital malformations [malformations] of the posterior segment of the eye

Q14.0 Congenital malformation of the vitreous. Congenital opacity of the vitreous body

Q14.1 Congenital malformation of the retina. congenital retinal aneurysm

Q14.2 Congenital malformation of the optic disc. Optic disc coloboma

Q14.3 Congenital malformation of uvea

Q14.8 Other congenital malformations of the posterior segment of the eye. Fundus coloboma

Q14.9 Congenital malformation of posterior segment of eye, unspecified

Q15 Other congenital malformations [malformations] of the eye

Excludes: congenital nystagmus (H55)

Q15.0 Congenital glaucoma. Buftalm. Glaucoma of the newborn. Hydrophthalmos. Congenital keratoglobus

Macrophthalmos in congenital glaucoma. Megalocornea

Q15.8 Other specified malformations of eye

Q15.9 Congenital malformation of eye, unspecified

deformity > eyes NOS

Q16 Congenital malformations [malformations] of the ear causing hearing loss

Excludes: congenital deafness (H90.-)

Q16.0 Congenital absence of auricle

Q16.1 Congenital absence, atresia and stricture of ear canal (external)

Artesia or stricture of the bony part of the canal

Q16.2 Absence of Eustachian tube

Q16.3 Congenital malformation of the auditory ossicles. Fusion of the auditory ossicles

Q16.4 Other congenital malformations of the middle ear Congenital malformation of middle ear NOS

Q16.5 Congenital malformation of inner ear

Q16.9 Congenital malformation of the ear causing hearing impairment, unspecified Congenital absence of ear NOS

Q17 Other congenital malformations [malformations] of the ear

Excludes: preauricular sinus (Q18.1)

Q17.0 Accessory auricle. Additional tragus. Poliotia. Preauricular process or polyp

Q17.3 Other malformation of ear. pointed ear

Q17.4 Abnormally placed ear. Low set ears

Excludes: turbinate (Q18.2)

Q17.5 Prominent ear. protruding ears

Q17.8 Other specified malformations of the ear congenital absence of the earlobe

Q17.9 Malformation of ear, unspecified Congenital ear malformation NOS

Q18 Other congenital malformations [malformations] of face and neck

conditions classified in Q67.0-Q67.4

congenital malformations of zygomatic and facial bones (Q75.-)

dentofacial anomalies (including malocclusion) (K07.-)

congenital facial lesion syndromes (Q87.0)

preserved thyroglossal duct (Q89.2)

Q18.0 Sinus, fistula and cyst of gill slit. gill rudiment

Q18.1 Preauricular sinus and cyst

Q18.2 Other malformations of gill slit Gill slit anomaly NOS. Neck shell. Otocephaly

Q18.3 Pterygoid neck. Pterygium colli

Q18.6 Macrocheilia. Congenital lip hypertrophy

Q18.8 Other specified malformations of face and neck

Q18.9 Malformation of face and neck, unspecified Congenital malformation of face and neck NOS

CONGENITAL ABNORMALITIES OF THE CIRCULATION SYSTEM (Q20-Q28)

Q20 Congenital malformations [malformations] of cardiac chambers and connections

Q20.0 Common truncus arteriosus. Unclosed truncus arteriosus

Q20.1 Duplication of right ventricular outlet. Taussig-Bing syndrome

Q20.2 Doubling of left ventricular outlet

Q20.3 Discordant ventricular-arterial junction

Dextrotransposition of the aorta. Transposition of great vessels (complete)

Q20.4 Doubling of the inlet of the ventricle. Common stomach. Three-chambered double-atrial heart

Q20.5 Discordant atrioventricular connection. Corrected transposition

Left transposition. Ventricular inversion

Q20.6 Isomerism of the atrial appendage. Isomerism of the atrial appendage with asplenia or polysplenia

Q20.8 Other congenital malformations of cardiac chambers and connections

Q20.9 Congenital malformation of cardiac chambers and connections, unspecified

Q21 Congenital malformations of cardiac septum

Excludes: acquired cardiac septal defect (I51.0)

Q21.0 Ventricular septal defect

Q21.1 Atrial septal defect. Coronary sinus defect

Unfinished or preserved:

sinus venosus defect

Q21.2 Atrioventricular septal defect. Common atrioventricular canal

Endocardial defect at the base of the heart. Primary atrial septal defect (type II)

Q21.3 Tetralogy of Fallot. Ventricular septal defect with pulmonary stenosis or artesia, aortic dextroposition, and right ventricular hypertrophy.

Q21.4 Septal defect between aorta and pulmonary artery

Aortic septal defect. Aorto-pulmonary-arterial window

Q21.8 Other congenital malformations of the cardiac septum Eisenmenger syndrome. Pentade of Fallot

Q21.9 Congenital malformation of cardiac septum, unspecified Septal (heart) defect NOS

Q22 Congenital malformations of pulmonary and tricuspid valves

Q22.0 Pulmonary valve atresia

Q22.1 Congenital stenosis of pulmonary valve

Q22.2 Congenital insufficiency of the pulmonary valve. Congenital regurgitation of the pulmonic valve

Q22.3 Other congenital malformations of the pulmonary valve Congenital malformation of pulmonary valve NOS

Q22.4 Congenital stenosis of the tricuspid valve. Tricuspid valve atresia

Q22.6 Right-sided hypoplastic 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 aortic valve stenosis

Aortic valve congenital:

Excl.: congenital subaortic stenosis (Q24.4)

stenosis in left-sided hypoplastic heart syndrome (Q23.4)

Q23.1 Congenital aortic valve insufficiency. Bicuspid aortic valve

congenital aortic insufficiency

Q23.2 Congenital mitral stenosis congenital mitral atresia

Q23.3 Congenital mitral regurgitation

Q23.4 Left-sided hypoplastic heart syndrome

Atresia or severe hypoplasia of the orifice or valve of the aorta with hypoplasia of the ascending aorta and a defect in the development of the left ventricle (with stenosis or atresia of the mitral valve).

Q23.8 Other congenital malformations of aortic and mitral valves

Q23.9 Congenital malformation of aortic and mitral valves, unspecified

Q24 Other congenital malformations of the heart

Excludes: endocardial fibroelastosis (I42.4)

Excludes: dextrocardia with localization inversion (Q89.3)

atrial appendage isomerism (with asplenia or polysplenia) (Q20.6)

mirror image atrial arrangement with localization inversion (Q89.3)

Q24.2 Triatrial heart

Q24.3 Funnel stenosis of pulmonic valve

Q24.4 Congenital subaortic stenosis

Q24.5 Abnormal development of coronary vessels. Congenital coronary (arterial) aneurysm

Q24.6 Congenital heart block

Q24.8 Other specified congenital malformations of the heart

Diverticulum of the left ventricle

Wrong position of the heart. Ul's disease

Q24.9 Congenital heart disease, unspecified

Q25 Congenital malformations of large arteries

Q25.0 Patent ductus arteriosus Open ductus arteriosus. Preserved ductus arteriosus

Q25.1 Coarctation of aorta. Coarctation of the aorta (productive) (postductal)

Q25.3 Aortic stenosis. Supravalvular aortic stenosis

Excludes: congenital aortic stenosis (Q23.0)

Q25.4 Other congenital malformations of aorta

Sinus of Valsalva aneurysm (ruptured)

Double aortic arch [vascular aortic ring]

Excludes: aortic hypoplasia in left-sided hypoplastic heart syndrome (Q23.4)

Q25.5 Pulmonary atresia

Q25.6 Stenosis of pulmonary artery

Q25.7 Other congenital malformations of pulmonary artery Aberrant pulmonary artery

Anomaly > pulmonary artery

Pulmonary arteriovenous aneurysm

Q25.8 Other congenital malformations of large arteries

Q25.9 Congenital malformation of large arteries, unspecified

Q26 Congenital malformations [malformations] of large veins

Q26.0 Congenital vena cava stenosis. Congenital stenosis of the vena cava (inferior) (superior)

Q26.1 Preservation of left superior vena cava

Q26.2 Total malformation of pulmonary vein connection

Q26.3 Partial malformation of pulmonary vein connection

Q26.4 Anomaly of pulmonary venous connection, unspecified

Q26.5 Anomaly of portal vein connection

Q26.6 Portal venous-hepato-arterial fistula

Q26.8 Other congenital malformations of large veins Absence of vena cava (inferior) (superior)

Unpaired inferior vena cava throughout. Preservation of the left posterior main vein

Curved Turkish Saber Syndrome

Q26.9 Malformation of large vein, unspecified Anomaly of vena cava (inferior) (superior) NOS

Q27 Other congenital malformations [malformations] of peripheral vascular system

congenital retinal aneurysm (Q14.1)

Q27.0 Congenital absence and hypoplasia of umbilical artery. Single umbilical artery

Q27.1 Congenital stenosis of renal artery

Q27.2 Other malformations of renal artery Congenital malformation of renal artery NOS

Multiple renal arteries

Q27.3 Peripheral arteriovenous malformation. Arteriovenous aneurysm

Excludes: acquired arteriovenous aneurysm (I77.0)

Q27.4 Congenital phlebectasia

Q27.8 Other specified congenital malformations of peripheral vascular system Aberrant subclavian artery

Atresia > arteries or veins NEC

Q27.9 Congenital malformation of peripheral vascular system, unspecified Anomaly of artery or vein NOS

Q28 Other congenital malformations of the circulatory system

Excludes: congenital aneurysm:

Cerebral arteriovenous malformation (I60.8)

Q28.0 Arteriovenous malformation of precerebral vessels

Venous arteriovenous precerebral aneurysm (unruptured)

Q28.1 Other malformations of precerebral vessels

Anomaly of precerebral vessels NOS

Precerebral aneurysm (unruptured)

Q28.2 Arteriovenous malformation of cerebral vessels. Arteriovenous malformation of the brain NOS

Congenital arteriovenous cerebral aneurysm (not ruptured)

Q28.3 Other malformations of cerebral vessels

Cerebral aneurysm (unruptured)

Cerebral vascular anomaly NOS

Q28.8 Other specified congenital malformations of circulatory system

Congenital aneurysm of specified location NEC

Q28.9 Congenital malformation of circulatory system, unspecified

CONGENITAL ABNORMALITIES OF THE RESPIRATORY ORGANS (Q30-Q34)

Q30 Congenital malformations [malformations] of the nose

Excludes: congenital deviated nasal septum (Q67.4)

Atresia > nasal passages (anterior)

Congenital stenosis > (posterior)

Q30.1 Agenesis and underdevelopment of the nose. congenital absence of the nose

Q30.2 Cracked, depressed, split nose

Q30.3 Congenital perforation of nasal septum

Q30.8 Other congenital malformations of the nose Additional nose. Congenital malformation of the nasal sinus wall

Q30.9 Congenital malformation of nose, unspecified

Q31 Congenital malformations of larynx

Q31.1 Congenital stenosis of larynx under vocal apparatus proper

Q31.4 Congenital stridor of the larynx. Congenital stridor (larynx) NOS

Q31.8 Other congenital malformations of larynx

Absence > cricoid cartilage, epiglottis,

Cleft of the thyroid cartilage. Congenital laryngeal stenosis NEC. epiglottis gap

Cleft posterior cricoid cartilage

Q31.9 Congenital malformation of larynx, unspecified

Q32 Congenital malformations [malformations] of trachea and bronchi

Excludes: congenital bronchiectasis (Q33.4)

Q32.0 Congenital tracheomalacia

Q32.1 Other malformations of trachea Anomaly of the tracheal cartilage. Tracheal atresia

Q32.2 Congenital bronchomalacia

Q32.3 Congenital bronchial stenosis

Q32.4 Other congenital malformations of bronchi

Congenital anomaly NOS >

Q33 Congenital malformations of lung

Q33.0 Congenital cyst of lung

Excludes: cystic lung disease, acquired or unspecified (J98.4)

Q33.1 Accessory lobe of lung

Q33.2 Lung sequestration

Q33.3 Pulmonary agenesis Absence of a lung (lobe)

Q33.4 Congenital bronchiectasis

Q33.5 Ectopic tissue in lung

Q33.6 Hypoplasia and dysplasia of lung

Excludes: pulmonary hypoplasia associated with prematurity (P28.0)

Q33.8 Other congenital malformations of lung

Q33.9 Congenital malformation of lung, unspecified

Q34 Other congenital malformations [malformations] of the respiratory system

Q34.1 Congenital cyst of mediastinum

Q34.8 Other specified congenital malformations of respiratory system Atresia of the nasopharynx

Q34.9 Congenital malformation of respiratory system, unspecified

NOS respiratory anomaly

CLEFT LIP AND PALATE [HARE LIP AND WOLF PATE] (Q35-Q37)

Excludes: Robin's syndrome (Q87.0)

Q35 Cleft palate [cleft palate]

Includes: fissure of palate

Excludes: cleft palate and lip (Q37.-)

Q35.0 Bilateral cleft palate

Q35.1 Cleft palate, unilateral. Cleft palate NOS

Q35.2 Cleft soft palate, bilateral

Q35.3 Cleft of soft palate, unilateral. Cleft soft palate NOS

Q35.4 Bilateral cleft of hard and soft palate

Q35.5 Cleft of hard and soft palate, unilateral. Splitting of hard and soft palate NOS

Q35.6 Median cleft palate

Q35.8 Cleft palate [cleft palate], unspecified, bilateral

Q35.9 Cleft palate [cleft palate], unspecified, unilateral Wolf mouth NOS

Q36 Cleft lip [cleft lip]

Includes: cleft lip

Excludes: cleft lip and palate (Q37.-)

Q36.0 Bilateral cleft lip

Q36.1 Cleft lip, median

Q36.9 Cleft lip, unilateral. Cleft lip NOS

Q37 Cleft palate and lip [cleft palate with cleft lip]

Q37.0 Cleft palate and lip, bilateral

Q37.1 Cleft palate and lip, unilateral. Cleft palate and lip NOS

Q37.2 Cleft palate and lip, bilateral

Q37.3 Cleft of soft palate and lip, unilateral. Cleft of soft palate and lip NOS

Q37.4 Bilateral cleft of hard and soft palate and lip

Q37.5 Cleft of hard and soft palate and lip, unilateral. Splitting of hard and soft palate and lip NOS

Q37.8 Bilateral cleft palate and lip, unspecified

Q37.9 Unilateral cleft palate and lip, unspecified Cleft palate with cleft lip NOS

OTHER CONGENITAL malformations [malformations] of digestive organs (Q38-Q45)

Q38 Other congenital malformations [malformations] of tongue, mouth and pharynx

Q38.0 Congenital malformations of lips, not elsewhere classified

Q38.1 Ankyloglossia. Shortening of the frenulum of the tongue

Q38.3 Other congenital malformations of tongue Aglossia. Forked tongue

Hypoglossia. Hypoplasia of the tongue. microglossia

Q38.4 Congenital malformations of salivary glands and ducts

Accessory > salivary gland(s) or duct

Congenital fistula of the salivary gland

Q38.5 Congenital malformations of palate, not elsewhere classified

Lack of uvula. Congenital malformation of palate NOS. sky high

Q38.6 Other malformations of the mouth Congenital malformation of mouth NOS

Q38.7 Pharyngeal pocket. Diverticulum of the pharynx

Excludes: pharyngeal pouch syndrome (D82.1)

Q38.8 Other malformations of pharynx Congenital malformation of pharynx NOS

Q39 Congenital malformations of esophagus

Q39.0 Atresia of esophagus without fistula. Esophageal atresia NOS

Q39.1 Esophageal atresia with tracheoesophageal fistula Esophageal atresia with bronchial-esophageal fistula

Q39.2 Congenital tracheoesophageal fistula without atresia. Congenital tracheoesophageal fistula NOS

Q39.3 Congenital stenosis and stricture of esophagus

Q39.4 Esophageal membrane

Q39.5 Congenital dilation of esophagus

Q39.6 Diverticulum of esophagus. Esophageal Kraman

Q39.8 Other congenital malformations of esophagus

Congenital misalignment > esophagus

Q39.9 Congenital malformation of esophagus, unspecified

Q40 Other congenital malformations [malformations] of upper digestive tract

Q40.0 Congenital hypertrophic pyloric stenosis

Congenital (th) (th) (malformation) or underdevelopment:

Q40.1 Congenital hiatal hernia. Displacement of the cardia through the esophageal opening of the diaphragm

Excludes: congenital diaphragmatic hernia (Q79.0)

Q40.2 Other specified malformations of stomach

Hourglass stomach

Double stomach. Megalogastria. Microgastria

Q40.3 Malformation of stomach, unspecified

Q40.8 Other specified malformations of upper digestive tract

Q40.9 Malformations of upper gastrointestinal tract, unspecified

Anomaly > NOS upper digestive

Q41 Congenital absence, atresia and stenosis of the small intestine

Includes: congenital obstruction, obstruction and stricture of small intestine or bowel NOS

Excludes: meconium ileus (E84.1)

Q41.0 Congenital absence, atresia and stenosis of duodenum

Q41.1 Congenital absence, atresia and stenosis of the jejunum. Apple Peel Syndrome. Infection of the 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

Congenital absence, atresia, and stenosis of intestine NOS

Q42 Congenital absence, atresia and stenosis of large intestine

Includes: congenital obstruction, obstruction and stricture of the large intestine

Q42.0 Congenital absence, atresia and stenosis of rectum with fistula

Q42.1 Congenital absence, atresia and stenosis of the rectum without fistula. Infection of the rectum

Q42.2 Congenital absence, atresia and stenosis of anus with fistula

Q42.3 Congenital absence, atresia and stenosis of the anus without fistula. Infection of the anus

Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine

Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified

Q43 Other congenital malformations of intestine

Q43.1 Hirschsprung's disease Aganglionosis. Congenital (aganglionic) megacolon

Q43.2 Other congenital functional malformations of the colon Congenital enlargement of the colon

Q43.3 Congenital malformations of intestinal fixation

Congenital adhesions [strands]:

Jackson membrane. Malrotation of the colon

Incomplete >cecum and colon

Q43.5 Ectopic anus

Q43.6 Congenital fistula of rectum and anus

Excludes: congenital fistula:

pilonidal fistula or sinus (L05.-)

with absence, atresia and stenosis of rectum and anus (Q42.0, Q42.2)

Q43.7 Preserved cloaca. Cloaca NOS

Q43.8 Other specified congenital malformations of intestine

Diverticulum of the colon

Dolichocolon. Megaloappendix. Megaloduodenum. Microcolon

Q43.9 Congenital malformation of intestine, unspecified

Q44 Congenital malformations [malformations] of the gallbladder, bile ducts and liver

Q44.0 Agenesis, aplasia and hypoplasia of the gallbladder. congenital absence of the gallbladder

Q44.1 Other congenital malformations of gallbladder

Congenital malformation of the gallbladder NOS. Intrahepatic gallbladder

Q44.2 Atresia of bile ducts

Q44.3 Congenital stenosis and stricture of bile ducts

Q44.4 Cyst of bile duct

Q44.5 Other congenital malformations of bile ducts Accessory hepatic duct. Congenital malformation of bile duct NOS

Q44.6 Cystic liver disease. Fibrocystic liver disease

Q44.7 Other congenital malformations of the liver Accessory liver. Alagille syndrome

Q45 Other congenital malformations [malformations] of the digestive system

Q45.0 Agenesis, aplasia and hypoplasia of the pancreas. congenital absence of the pancreas

Q45.1 Annular pancreas

Q45.2 Congenital cyst of pancreas

Q45.3 Other congenital malformations of pancreas and pancreatic duct

accessory pancreas. Malformation of pancreas or pancreatic duct NOS

Excludes: diabetes mellitus:

cystic fibrosis of the pancreas (E84.-)

Q45.8 Other specified congenital malformations of digestive organs

Absence of (complete) (partial) digestive tract NOS

Malposition > digestive organs NOS

Q45.9 Malformation of digestive organs, unspecified

Deformity > digestive organs NOS

CONGENITAL MALIGNATIONS OF THE GENITAL ORGANS (Q50-Q56)

Excludes: androgen resistance syndrome (E34.5)

syndromes associated with anomalies in the number and shape of chromosomes (Q90-Q99)

testicular feminization syndrome (E34.5)

Q50 Congenital malformations [malformations] of ovaries, fallopian tubes and broad ligaments

Q50.0 Congenital absence of ovary

Q50.1 Cystic malformation of ovary

Q50.2 Congenital torsion of ovary

Q50.3 Other congenital malformations of ovary accessory ovary

Congenital malformation of ovary NOS. Elongation of the ovary (rod-shaped gonad)

Q50.4 Embryonic cyst of fallopian tube. fimbrial cyst

Q50.5 Embryonic cyst of broad ligament

Q50.6 Other congenital malformations of fallopian tube and broad ligament

Accessory > fallopian tube(s) or broad tube(s)

Malformation of fallopian tube or broad ligament NOS

Q51 Congenital malformations [malformations] of development of body and cervix

Q51.0 Agenesis and aplasia of uterus Congenital absence of the uterus

Q51.1 Duplication of body of uterus with duplication of cervix and vagina

Q51.2 Other uterine duplications. Uterus doubling NOS

Q51.5 Agenesis and aplasia of the cervix. Congenital absence of the cervix

Q51.6 Embryonic cyst of cervix

Q51.7 Congenital fistula between uterus and digestive and urinary tracts

Q51.8 Other congenital malformations of body and cervix Hypoplasia of the body and cervix

Q51.9 Congenital malformation of body and cervix, unspecified

Q52 Other congenital malformations [malformations] of female genital organs

Q52.0 Congenital absence of vagina

Q52.1 Doubling of the vagina. Vagina separated by a septum

Excl.: duplication of vagina with duplication of body and cervix (Q51.1)

Q52.2 Congenital rectovaginal fistula

Q52.3 Hymen completely covering the entrance to the vagina

Q52.4 Other congenital malformations of the vagina Malformation of the vagina NOS

Q52.6 Congenital malformation of clitoris

Q52.7 Other congenital malformations of vulva

Q52.8 Other specified congenital malformations of female genital organs

Q52.9 Congenital malformation of female genital organs, unspecified

Q53 Undescended testicle

Q53.0 Ectopic testis Unilateral or bilateral ectopic testis

Q53.1 Undescended testicle, unilateral

Q53.2 Undescended testis, bilateral

Q53.9 Undescended testicle, unspecified Cryptorchidism NOS

Q54 Hypospadias

Q54.0 Hypospadias of glans penis

Q54.1 Hypospadias of the penis

Q54.2 Hypospadias, articular-scrotal

Q54.3 Hypospadias perineum

Q54.4 Congenital curvature of penis

Q54.9 Hypospadias, unspecified

Q55 Other congenital malformations [malformations] of male reproductive organs

Excludes: congenital hydrocele (P83.5)

Q55.0 Absence and aplasia of testis. Monorchism

Q55.1 Hypoplasia of testis and scrotum. Testicular fusion

Q55.2 Other congenital malformations of testis and scrotum Malformation of testis or scrotum NOS

Polyorchism. Retractile testicle. migrating testis

Q55.3 Atresia of vas deferens

Q55.4 Other congenital malformations of vas deferens, duodenum, spermatic cord and prostate

Absence or aplasia:

Malformation of vas deferens, epididymis, spermatic cord, or prostate NOS

Q55.5 Congenital absence and aplasia of penis

Q55.6 Other congenital malformations of the penis Malformation of the penis NOS

Curvature of the penis (lateral). Hypoplasia of the penis

Q55.8 Other specified congenital malformations of male genital organs

Q55.9 Congenital malformation of male genital organs, unspecified

Deformity > male genital organs NOS

Q56 Sexual uncertainty and pseudohermaphroditism

Q56.0 Hermaphroditism, not elsewhere classified

Sex gland containing the tissue components of the ovary and testis

Q56.1 Male pseudohermaphroditism, not elsewhere classified

Male pseudohermaphroditism NOS

Q56.2 Female pseudohermaphroditism, not elsewhere classified

Female pseudohermaphroditism NOS

Q56.3 Pseudohermaphroditism, unspecified

Q56.4 Uncertainty of sex, unspecified. Genital ambiguity

CONGENITAL ANOMALIES [DEVELOPMENTAL] OF THE URINARY SYSTEM (Q60-Q64)

Q60 Agenesia and other reductional defects of the kidney

Includes: renal atrophy:

congenital absence of a kidney

Q60.0 Agenesis of kidney, unilateral

Q60.1 Renal agenesis, bilateral

Q60.2 Agenesis of kidney, unspecified

Q60.3 Hypoplasia of kidney, unilateral

Q60.4 Hypoplasia of kidney, bilateral

Q60.5 Hypoplasia of kidney, unspecified

Q61 Cystic kidney disease

Excludes: acquired kidney cyst (N28.1)

Q61.0 Congenital solitary cyst of the kidney. Renal cyst (congenital) (single)

Q61.1 Polycystic kidney, childhood type

Q61.2 Polycystic kidney, adult type

Q61.3 Polycystic kidney disease, unspecified

Q61.5 Medullary cystosis of the kidney. Kidney spongiformity NOS

Q61.8 Other cystic diseases of the kidneys

Kidney degeneration or disease

Q61.9 Cystic kidney disease, unspecified Meckel-Gruber syndrome

Q62 Congenital disorders of patency of the renal pelvis and congenital anomalies of the ureter

Q62.0 Congenital hydronephrosis

Q62.1 Atresia and stenosis of ureter

Q62.2 Congenital dilatation of ureter [congenital megaloureter] Congenital dilatation of the ureter

Q62.3 Other congenital disorders of renal pelvis and ureter Congenital ureterocele

Q62.4 Agenesis of ureter Absence of the ureter

Q62.5 Duplication of ureter

Q62.6 Malposition of ureter

Displacement > of the ureter or orifice of the urine Abnormal implantation > of the ureter

Q62.7 Congenital vesicoureterorenal reflux

Q62.8 Other congenital malformations of ureter 8Ureter anomaly NOS

Q63 Other congenital malformations of kidney

Excludes: congenital nephrotic syndrome (N04.-)

Q63.1 Confluent, lobulated and horseshoe kidney

Q63.2 Ectopic kidney. Congenital displacement of the kidney. Abnormal rotation of the kidney

Q63.3 Hyperplastic and giant kidney

Q63.8 Other specified congenital malformations of kidney congenital kidney stone

Q63.9 Congenital malformation of kidney, unspecified

Q64 Other congenital malformations of the urinary system

Q64.1 Bladder exstrophy Ectopic bladder. Eversion of the bladder

Q64.2 Congenital posterior urethral valves

Q64.3 Other atresia and stenosis of urethra and bladder neck

Bladder neck obstruction

Obstruction of the urethra

Q64.4 Anomaly of urinary duct [urachus] Urinary duct cyst

Open urinary tract. Urinary duct prolapse

Q64.5 Congenital absence of bladder and urethra

Q64.6 Congenital bladder diverticulum

Q64.7 Other congenital malformations of bladder and urethra

Bladder or urethra malformation NOS

Bladder (mucous membrane)

External opening of the urethra

External opening of the urethra

Q64.8 Other specified congenital malformations of urinary system

Q64.9 Congenital malformation of urinary system, unspecified

Deformity of > urinary system NOS

CONGENITAL MALIGNATIONS [DEVELOPMENTAL] AND DEFORMATIONS OF THE MUSCLE-SKELETAL SYSTEM (Q65-Q79)

Q65 Congenital deformities of the hip

Excludes: snapping thigh (R29.4)

Q65.0 Congenital dislocation of hip, unilateral

Q65.1 Congenital dislocation of hip, bilateral

Q65.2 Congenital dislocation of hip, unspecified

Q65.3 Congenital subluxation of hip, unilateral

Q65.4 Congenital subluxation of hip, bilateral

Q65.5 Congenital subluxation of hip, unspecified

Q65.6 Unstable hip. Predisposition to hip dislocation. Predisposition to hip subluxation

Q65.8 Other congenital deformities of the hip Anterior displacement of the femoral neck

Congenital acetabular dysplasia

Valgus position

varus position

Q65.9 Congenital deformity of hip, unspecified

Q66 Congenital deformities of the foot

Excl.: defects shortening the foot (Q72.-)

hallux valgus (acquired) (M21.0)

varus deformities (acquired) (M21.1)

Q66.0 Equine varus clubfoot

Q66.1 Calcaneal-varus clubfoot

Q66.2 Varus foot Adducted foot. Metatarsus varus

Q66.3 Other congenital varus deformities of the foot Varus deformity of the big toe, congenital

Q66.4 Calcaneovalgus clubfoot

Q66.5 Congenital flat foot

Spasmodic (turned outward)

Q66.6 Other congenital valgus deformities of the foot Abducted foot. Metatarsus valgus

Q66.8 Other congenital deformities of foot Clubfoot NOS. Hammer toes congenital

Fusion of the bones of the tarsus. Vertical talus

Q66.9 Congenital deformity of foot, unspecified

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

Excludes: congenital malformation syndromes classified under Q87. Potter syndrome (Q60.6)

Q67.4 Other congenital deformities of skull, face and jaw Depressions in the skull

Congenital deviated septum. Atrophy or hypertrophy of half of the face

Flattened or crooked nose, congenital

Excludes: maxillofacial anomalies [including malocclusion] (K07.-)

syphilitic saddle nose (A50.5)

Q67.5 Congenital deformity of spine

Excludes: childhood idiopathic scoliosis (M41.0)

scoliosis due to malformation of bone tissue (Q76.3)

Q67.6 Sunken chest. Congenital funnel chest [cobbler's chest]

Q67.7 Keeled chest. Congenital chicken breast

Q67.8 Other congenital deformities of chest Congenital deformity of chest wall NOS

Q68 Other congenital musculoskeletal deformities

Excludes: defects shortening the limb (Q71-Q73)

Q68.0 Congenital deformity of sternocleidomastoid muscle. Congenital (sternomastoid) torticollis. Contracture sternocleidomastoid (muscles). Sternomastoid tumor (congenital)

Q68.1 Congenital deformity of the hand Congenital deformity of the fingers in the form of drumsticks

Spatulate hand (congenital)

Q68.2 Congenital deformity of the knee

Q68.3 Congenital curvature of hip

Excludes: anterior displacement of femur (neck) (Q65.8)

Q68.4 Congenital curvature of tibia and fibula

Q68.5 Congenital curvature of long bones of lower leg, unspecified

Q68.8 Other specified congenital musculoskeletal deformities

Q69 Polydactyly

Q69.0 Additional pin(s)

Q69.1 Accessory thumb(s) of hand

Q69.2 Accessory toe(s) of the foot. Accessory big toe

Q69.9 Polydactyly, unspecified Multi-fingered NOS

Q70 Syndactyly

Q70.0 Fusion of fingers. Complex syndactyly of fingers with synostosis

Q70.1 Webbed fingers. Simple syndactyly of fingers without synostosis

Q70.2 Fusion of toes. Complex syndactyly of the toes with synostosis

Q70.3 Webbed toes. Simple syndactyly of fingers without synostosis

Q70.9 Syndactyly, unspecified Sinphalangia NOS

Q71 Defects shortening the upper limb

Q71.0 Congenital total absence of upper limb(s)

Q71.1 Congenital absence of upper arm and forearm with hand present

Q71.2 Congenital absence of forearm and hand

Q71.3 Congenital absence of hand and finger(s)

Q71.4 Longitudinal shortening of the radius. Club hand (congenital). Radiation clubhand

Q71.5 Longitudinal shortening of ulna

Q71.6 Pincer hand

Q71.8 Other defects shortening the upper limb(s) Congenital shortening of the upper limb(s)

Q71.9 Defect shortening upper limb, unspecified

Q72 Defects shortening the lower limb

Q72.0 Congenital total absence of lower limb(s)

Q72.1 Congenital absence of femur and tibia with foot present

Q72.2 Congenital absence of leg and foot

Q72.3 Congenital absence of foot and toe(s)

Q72.4 Longitudinal shortening of the femur. Shortening of the proximal femur

Q72.5 Longitudinal shortening of tibia

Q72.6 Longitudinal shortening of fibula

Q72.7 Congenital cleft foot

Q72.8 Other shortening of lower limb(s) Congenital shortening of the lower limb(s)

Q72.9 Defect shortening lower limb, unspecified

Q73 Defects shortening limb, unspecified

Q73.0 Congenital absence of limb(s), unspecified Amelia NOS

Q73.1 Phocomelia of limb(s), unspecified Phocomelia NOS

Q73.8 Other shortening limb(s), unspecified

Longitudinal reduction deformity of the limb(s)

Hemimelia NOS > limb(s) NOS

Q74 Other congenital malformations [malformations] of limb(s)

Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle

Accessory carpal bones. Clavicular-cranial dysostosis. Congenital false joint of the clavicle

Macrodactyly (of the fingers). Madelung's deformity. Radioulnar synostosis. Sprengel deformity

Triphalangeal thumb

Q74.1 Congenital malformation of knee

Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle

Fusion of the sacroiliac joint

Excludes: anterior displacement of femoral neck (Q65.8)

Q74.3 Congenital arthrogryposis multiplex

Q74.8 Other specified congenital malformations of limb(s)

Q74.9 Congenital malformation of limb(s), unspecified Congenital malformation of limb(s) NOS

Q75 Other congenital malformations of bones of skull and face

Excludes: congenital malformation of face NOS (Q18.-)

congenital malformation syndromes, classified in Q87. maxillofacial anomalies (including malocclusion) (K07.-)

musculoskeletal deformities of head and face (Q67.0-Q67.4)

skull defects associated with congenital brain anomalies, such as:

Q75.0 Craniosynostosis Acrocephaly. Incomplete fusion of the bones of the skull. Oxycephaly. Trigonocephaly

Q75.1 Craniofacial dysostosis Crouzon disease

Q75.4 Maxillofacial dysostosis

Q75.5 Oculomandibular dysostosis

Q75.8 Other specified malformations of skull and face Absence of the skull bone congenital

Congenital deformity of the frontal bone. Platibasia

Q75.9 Congenital malformation of bones of skull and face, unspecified

Q76 Congenital malformations [malformations] of the spine and bones of the chest

Excludes: congenital musculoskeletal deformities of spine and chest (Q67.5-Q67.8)

Excl.: meningocele (spinal) (Q05.-)

Q76.1 Klippel-Feil syndrome Cervical spinal fusion syndrome

Q76.2 Congenital spondylolisthesis Congenital spondylolysis

Excludes: spondylolisthesis (acquired) (M43.1)

spondylolysis (acquired) (M43.0)

Q76.3 Congenital scoliosis due to malformation of bone Hemivertebral fusion or lack of segmentation with scoliosis

Q76.4 Other congenital malformations of the spine not associated with scoliosis

Fusion of the spinal column >

Vertebral > unspecified anomaly

sacral (joint) > or not associated

(regions) > with scoliosis

Anomaly of the spinal column >

Q76.5 Cervical rib. Additional rib at the neck

Q76.6 Other congenital malformations of ribs

Excludes: short rib syndrome (Q77.2)

Q76.7 Congenital malformation of sternum Congenital absence of the sternum. Cleavage of the sternum

Q76.8 Other congenital malformations of chest bones

Q76.9 Congenital malformation of thoracic bones, unspecified

Q77 Osteochondrodysplasia with growth defects of tubular bones and spine

Q77.0 Achondrogenesis hypochondroplasia

Q77.1 Short stature incompatible with life

Q77.2 Short rib syndrome Chest dysplasia leading to asphyxia

Q77.3 Pinpoint chondrodysplasia

Q77.4 Achondroplasia hypochondroplasia

Q77.5 Dystrophic dysplasia

Q77.6 Chondroectodermal dysplasia Ellis-Van Creveld Syndrome

Q77.7 Spondyloepiphyseal dysplasia

Q77.8 Other osteochondrodysplasia with growth defects of tubular bones and vertebral column

Q77.9 Osteochondrodysplasia with growth defects of long bones and spinal column, unspecified

Q78 Other osteochondrodysplasias

Q78.0 Incomplete osteogenesis. Congenital fragility of bones. Osteopsatiros

Q78.1 Polyostotic fibrous dysplasia Albright syndrome (-McCune) (-Sternberg)

Q78.2 Osteopetrosis Albers-Schoenberg syndrome

Q78.3 Progressive diaphyseal dysplasia Camurati-Engelmann Syndrome

Q78.4 Enchondromatosis Maffucci syndrome. Olier's disease

Q78.5 Metaphyseal dysplasia Pyle syndrome

Q78.6 Multiple congenital exostoses Diaphyseal aclasia

Q78.8 Other specified osteochondrodysplasias osteopoikilosis

Q78.9 Osteochondrodysplasia, unspecified Chondrodystrophy NOS. Osteodystrophy NOS

Q79 Congenital malformations [malformations] of the musculoskeletal system, not elsewhere classified

Excludes: congenital (sternomastoid) torticollis (Q68.0)

Q79.0 Congenital diaphragmatic hernia

Excludes: congenital hiatal hernia (Q40.1)

Q79.1 Other malformations of diaphragm No diaphragm. Congenital malformation of diaphragm NOS. Diaphragm eventration

Q79.2 Exomphalos. Omphalocele

Q79.4 Plum belly syndrome

Q79.5 Other congenital malformations of abdominal wall

Q79.8 Other malformations of musculoskeletal system

Q79.9 Congenital malformation of musculoskeletal system, unspecified

Deformity NOS > musculoskeletal system NOS

OTHER CONGENITAL MALANTS [DEVELOPMENTAL] (Q80-Q89)

Q80 Congenital ichthyosis

Excludes: Refsum's disease (G60.1)

Q80.1 X-linked ichthyosis

Q80.2 Lamellar [lamellar] ichthyosis collodion baby

Q80.3 Congenital bullous ichthyoform erythroderma

Q80.4 Fetal ichthyosis ["Harlequin fetus"]

Q80.8 Other congenital ichthyosis

Q80.9 Congenital ichthyosis, unspecified

Q81 Epidermolysis bullosa

Q81.0 Epidermolysis bullosa simplex

Excludes: Cockayne syndrome (Q87.1)

Q81.1 Lethal epidermolysis bullosa Herlitz syndrome

Q81.2 Epidermolysis bullosa, dystrophic

Q81.8 Other epidermolysis bullosa

Q81.9 Epidermolysis bullosa, unspecified

Q82 Other congenital malformations of skin

Excludes: acrodermatitis enteropathica (E83.2)

congenital erythropoietic porphyria (E80.0)

pilonidal cyst or sinus (L05.-)

Sturge-Weber(-Dimitri) syndrome (Q85.8)

Q82.0 Hereditary lymphedema

Q82.1 Xeroderma pigmentosum

Q82.2 Mastocytosis Urticaria pigmentosa

Excludes: malignant mastocytosis (C96.2)

Q82.3 Pigment incontinence

Q82.4 Ectodermal dysplasia (anhydrotic)

Q82.5 Congenital nonneoplastic nevus Birthmark NOS

Excludes: coffee stains (L81.3)

Q82.8 Other specified congenital malformations of skin Abnormal palmar creases

Additional skin marks. Benign familial pemphigus (Hailey-Hailey disease)

The skin is sluggish (hyperelastic). Dermatoglyphic anomalies. Hereditary keratosis of the hands and feet

Keratosis follicularis [Darye-Chayta]

Excludes: Ehlers-Danlos syndrome (Q79.6)

Q82.9 Congenital malformation of skin, unspecified

Q83 Congenital malformations [malformations] of breast

Excludes: absence of pectoralis muscle (Q79.8)

Q83.0 Absence of mammary gland and nipple

Q83.1 Accessory mammary gland Multiple mammary glands

Q83.3 Accessory nipple Multiple nipples

Q83.8 Other congenital malformations of breast Hypoplasia of the mammary gland

Q83.9 Congenital malformation of mammary gland, unspecified

Q84 Other congenital malformations [malformations] of integument

Q84.0 Congenital alopecia. congenital atrichosis

Q84.1 Congenital morphological disorders of hair, not elsewhere classified

Beaded hair. Knotted hair. ring hair

Excludes: Menkes syndrome [curly hair disease] (E83.0)

Q84.2 Other congenital malformations of hair

Preserved vellus hair

Excludes: syndrome (absence) (underdevelopment) of nails-supra-knee (Q87.2)

Q84.4 Congenital leukonychia

Q84.5 Enlarged and hypertrophic nails. Congenital prolapse of nails. Pachyonychia

Q84.6 Other congenital malformations of nails

Q84.8 Other specified congenital malformations of integument Skin aplasia, congenital

Q84.9 Malformation of integument, unspecified

Anomaly NOS > integuments NOS

Q85 Phakomatosis, not elsewhere classified

Excludes: telangiectatic ataxia [Louis Bar] (G11.3)

familial dysautonomy [Riley-Day] (G90.1)

Q85.0 Neurofibromatosis (non-malignant) Recklinghausen's disease

Q85.1 Tuberous sclerosis Bourneville disease. epiloia

Q85.8 Other phakomatoses, not elsewhere classified

Excludes: Meckel-Gruber syndrome (Q61.9)

Q85.9 Phakomatosis, unspecified Hamartosis NOS

Q86 Congenital malformation syndromes due to known exogenous factors, not elsewhere classified

Excludes: hypothyroidism associated with iodine deficiency (E00-E02)

non-teratogenic effects of substances transmitted through the placenta or breast milk (P04.-)

Q86.0 Fetal alcohol syndrome (dysmorphia)

Q86.1 Fetal hydantoin syndrome Meadow syndrome

Q86.2 Warfarin-induced dysmorphia

Q86.8 Other congenital malformation syndromes due to known exogenous factors

Q87 Other specified congenital malformation [malformation] syndromes affecting multiple systems

Q87.0 Syndromes of congenital malformations predominantly affecting facial appearance

Acrocephalopolysindactyly. Acrocephalosyndactyly [Aperta]. Syndrome of cryptophthalmos. Cyclopia

Whistling man's face

Q87.1 Congenital malformation syndromes presenting predominantly with dwarfism

Excludes: Ellis-van Creveld syndrome (Q77.6)

Q87.2 Congenital malformation syndromes predominantly involving limbs

Absence (underdevelopment) of the patella nails

Sirenomelia [unions of the lower extremities]

Thrombocytopenia with absence of the radius

Q87.3 Congenital malformation syndromes of overgrowth [gigantism] in early development

Q87.5 Other congenital malformation syndromes with other skeletal changes

Q87.8 Other specified congenital malformation syndromes, not elsewhere classified

Q89 Other congenital malformations [malformations], not elsewhere classified

Q89.0 Congenital malformations of spleen. Asplenia (congenital). congenital splenomegaly

Excludes: atrial appendage isomerism (with asplenia or polysplenia) (Q20.6)

Q89.1 Malformations of adrenal gland

Excludes: congenital adrenal hyperplasia (E25.0)

Q89.2 Congenital malformations of other endocrine glands Congenital anomaly of the parathyroid or thyroid gland

Preserved thyroid-lingual duct. Thyroglossal cyst

Q89.3 Situation inversus. Dextrocardia with localization inversion. Mirror-image atrial arrangement with localization inversion

Mirror or transverse arrangement of organs:

Transposition of internal organs:

Excludes: dextrocardia NOS (Q24.0)

Q89.4 Conjoined twins Craniopagus. Dicephaly. Double monster. Pygopagus. Thoracopagus

Q89.7 Multiple congenital malformations, not elsewhere classified Monster NOS

Excludes: congenital malformation syndromes involving multiple systems (Q87.-)

Q89.8 Other specified congenital malformations

Q89.9 Congenital malformation, unspecified

CHROMOSOMAL ABNORMALITIES, NOT OTHERWISE CLASSIFIED (Q90-Q99)

Q90 Down syndrome

Q90.0 Trisomy 21, meiotic nondisjunction

Q90.1 Trisomy 21 mosaicism (mitotic nondisjunction)

Q90.2 Trisomy 21, translocation

Q90.9 Down's syndrome, unspecified Trisomy 21 NOS

Q91 Edwards syndrome and Patau syndrome

Q91.0 Trisomy 18, meiotic nondisjunction

Q91.1 Trisomy 18 mosaicism (mitotic nondisjunction)

Q91.2 Trisomy 18, translocation

Q91.3 Edwards syndrome, unspecified

Q91.4 Trisomy 13, meiotic nondisjunction

Q91.5 Trisomy 13 mosaicism (mitotic nondisjunction)

Q91.6 Trisomy 13, translocation

Q91.7 Patau syndrome, unspecified

Q92 Other trisomies and partial trisomies of autosomes, not elsewhere classified

Includes: unbalanced translocations and insertions

Q92.0 Complete chromosomal trisomy, meiotic nondisjunction

Q92.1 Complete chromosomal trisomy, mosaicism (mitotic nondisjunction)

Q92.2 Major partial trisomy Doubling of a whole arm or a large segment of a chromosome

Q92.3 Minor partial trisomy Doubling of a segment of a chromosome smaller than the arm

Q92.4 Doublings observed only in prometaphase

Q92.5 Doublings with another set of rearrangements

Q92.6 Specially marked chromosomes

Q92.7 Triploid and polyploid

Q92.8 Other specified trisomies and partial trisomies of autosomes

Q92.9 Trisomy and partial trisomy of autosomes, unspecified

Q93 Monosomy and loss of part of autosomes, not elsewhere classified

Q93.0 Complete chromosomal monosomy, meiotic nondisjunction

Q93.1 Complete chromosomal monosomy, mosaicism (mitotic nondisjunction)

Q93.2 Chromosomal misalignment with rounding or center misalignment

Q93.3 Deletion of short arm of chromosome 4 Wolf-Hirshorn syndrome

Q93.4 Deletion of short arm of chromosome 5 Crying cat syndrome [disease]

Q93.5 Other deletions of part of chromosome

Q93.6 Deletions observed only in prometaphase

Q93.7 Deletions with different set of rearrangements

Q93.8 Other deletions from autosomes

Q93.9 Autosomal deletion, unspecified

Q95 Balanced rearrangements and structural markers, not elsewhere classified

Includes: Robertsonian and balanced reciprocal translocations and insertions

Q95.0 Balanced translocations and insertions in normal individual

Q95.1 Chromosomal inversions in normal individual

Q95.2 Balanced autosomal rearrangements in abnormal individual

Q95.3 Balanced sex/autosomal rearrangements in normal individual

Q95.4 Individuals with marked heterochromatin

Q95.5 Individuals with fragile autosomal region

Q95.8 Other balanced rearrangements and structural markers

Q95.9 Balanced rearrangements and structural markers, unspecified

Q96 Turner syndrome

Q96.2 46,X karyotype with abnormal sex chromosome except iso (Xq)

Q96.3 Mosaic 45,X/46,XX or XY

Q96.4 45,X mosaicism/other cell line(s) with abnormal sex chromosome

Q96.8 Other variants of Turner syndrome

Q96.9 Turner syndrome, unspecified

Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified

Q97.1 Female with more than 3 X chromosomes

Q97.2 Mosaicism, chains with different number of X chromosomes

Q97.3 Female with 46,XY karyotype

Q97.8 Other specified abnormal sex chromosomes, female phenotype

Q97.9 Sex chromosome anomaly, female phenotype, unspecified

Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified

Q98.0 Klinefelter's syndrome, karyotype 47,XXY

Q98.1 Klinefelter syndrome, male with more than two X chromosomes

Q98.2 Klinefelter's syndrome, male with 46,XX karyotype

Q98.3 Other male with 46,XX karyotype

Q98.4 Klinefelter syndrome, unspecified

Q98.6 Male with structurally altered sex chromosomes

Q98.7 Male with mosaic sex chromosomes

Q98.8 Other specified sex chromosome abnormalities, male phenotype

Q98.9 Sex chromosome anomaly, male phenotype, unspecified

Q99 Other chromosomal abnormalities, not elsewhere classified

Q99.0 Mosaic [chimera] 46,XX/46,XY. Chimera 46,XX/46,XY, true hermaphrodite

Q99.1 46,XX true hermaphrodite. 46,XX with streaked gonads

46,XY with streaked gonads. Pure gonadal dysgenesis

Q99.2 Fragile X chromosome. Fragile X Syndrome

Q99.8 Other specified chromosomal abnormalities

Q99.9 Chromosomal abnormality, unspecified

RCHD (Republican Center for Health Development of the Ministry of Health of the Republic of Kazakhstan)
Version: Archive - Clinical Protocols of the Ministry of Health of the Republic of Kazakhstan - 2010 (Order No. 239)

Other specified malformations of face and neck (Q18.8)

general information

Short description

Systemic disorders within the boundaries of the first and second gill arches during the period of the embryonic development of a child. Common to all syndromes is dysplasia and (or) underdevelopment of tissues and organs of the face, resulting in functional and aesthetic disorders.

Protocol"Congenital malformations of the face and neck"

ICD-10 code:

Q 18.1 - congenital pre-uricular cyst and fistula

Q 18.4 - macrostomy

Q 18.5 - microstomy

Q 18.6 - macrocheilia

Q 18.7 - microcheilia

Q18.8 - Other specified malformations of face and neck

Q 38.2 - macroglossia

Q 38.3 - other congenital anomalies of the tongue

Q 16.0-Q16.1 - congenital anomaly and atresia of the ear canal

Q 17.0 - additional auricle

Q 17.1-Q 17.3 Macrootia, microotia and other ear anomalies

Q 17.5 - protruding ears

Classification

Classification of congenital malformations of the face and neck (WHO, 1975)

Congenital malformations of the face:

cleft lip;

cleft palate;

Through clefts of the upper lip and palate;

Oblique clefts of the face (coloboma);

Transverse clefts of the face (macrostomy);

Fistulas of the lower lip;

Progenia, prognathia;

Hypertelorism (median cleft nose), etc.

Congenital malformations of the organs of the oral cavity and pharynx:

Macroglossia;

Short frenulum of the tongue;

Malformations of teeth;

Small vestibule of the oral cavity;

Diastema, etc.

Congenital malformations of the ears:

Dysplasia of the auricles (microotia and anotia), atresia of the ear canal;

Parotid papillomas;

Parotid fistulas (pre-ear fistulas and cysts);

Anomalies of the 1st and 2nd gill arches, etc.

Congenital malformations of the neck:

Torticollis;

Median and lateral fistulas and cysts of the neck, etc.

Diagnostics

Diagnostic criteria

Complaints: for a cosmetic defect, a violation of the anatomical and functional integrity of the maxillofacial region (depending on the type of malformation).

Oblique facial cleft or coloboma is a severe congenital pathology resulting from non-union (complete or incomplete) of the nasolabial and maxillary tubercles during the period of embryonic development of the child. The cleft can be complete or incomplete, unilateral or bilateral. Incomplete oblique facial clefts are more common.

Clinically, the cleft begins from the upper lip (to the right or left of the filtrum) and then continues towards the lower eyelid and the upper outer edge of the orbit. If the cleft is incomplete, then there is a cleavage of the tissues of only the upper lip, and then, along the course of the cleft, underdevelopment of the soft and hard tissues of the face is determined in the form of a retracted furrow from the upper lip to the lower orbital edge of the orbit. As a rule, these children have an underdevelopment or coloboma of the eyelids and, as a result, a false exophthalmos. Oblique facial cleft is often combined with other facial pathologies: cleft palate, hypertelorism, anomaly of the auricles, etc.

The treatment of this pathology is surgical, and it is carried out at different age periods depending on the full symptom complex of the disease (upper lip plastic surgery, eyelid surgery, facial contouring, otoplasty, etc.).

Transverse cleft of the face or macrostomy can be unilateral or bilateral. It is the result of non-union of the maxillary and mandibular tubercles during the period of the embryonic development of the child. Clinically, the pathology manifests itself in the form of a macrostomy of varying severity. In this case, the cleft starts from the corner of the mouth and continues further towards the earlobe. Macrostoma can be either an isolated malformation or a symptom of some congenital syndromes. So, for example, in Goldenhar's syndrome, in addition to the macrostomy, on the side of the lesion, there is underdevelopment of the lower jaw, auricle dysplasia, skin and cartilaginous appendages, epibulbar dermoid, etc. In the syndrome of the 1st gill arch, macrostomy is also often observed (G.V. Kruchinsky, 1974).

Surgical treatment of macrostomy - reduction of the oral fissure to normal size. The lateral border of the oral fissure is normally located on the pupillary line. If there are ear appendages, they should also be removed. Surgical intervention is most appropriate at the age of 2-3 years.

A median cleft nose (hypertellorism) is formed as a result of a violation of the fusion of the nasal plates of the nasolabial tubercle during the embryonic development of the child. Clinically, the pathology manifests itself in the form of a bifurcation of the tip of the nose and a small groove going up the back of the nose, due to the divergence of the alar cartilages. The tip of the nose is wide, flat, the nasal septum is shortened. Sometimes a hidden cleft extends higher to the bones of the nose and even the forehead. The bridge of the nose in these patients is wide, flattened, and a bone cleft can be palpated through the skin. The eye sockets in these patients are widely spaced (hypertelorism). All patients have a typical wedge-shaped growth of hair along the midline of the forehead. Median cleft nose can be combined with anomalies of the teeth in the upper jaw, cleft lip, congenital fistulas of the lips and other congenital pathologies.

Treatment of median clefts of the nose is surgical, depending on the severity of the pathology. In mild cases, plastic surgery of the alar cartilages and the tip of the nose can be performed. This operation can be performed at an earlier age (13-15 years). In more severe cases, a complete (including bone) rhinoplasty is required, which is usually performed after 17 years. In addition, with severe hypertelorism in adults, it is possible to perform a reconstructive operation on the frontal bone, upper jaw, and zygomatic bones in order to normalize the shape of the face. These rare and complex operations are carried out in some of the major maxillofacial surgery clinics.

Syndrome 1 and 2 gill arches. For patients with this pathology, a pronounced asymmetry of the face (one- or two-sided) is characteristic due to the underdevelopment of tissues formed from the 1st-2nd gill arches in the process of embryonic development. The transmission of this syndrome by inheritance is observed in extremely rare cases. The most common syndrome is unilateral. At the same time, unilateral underdevelopment of the lower and upper jaws, zygomatic bone and auricle is clinically determined. All soft tissues of the lower and middle third of the face on the side of the lesion are also underdeveloped.

Underdevelopment of the lower jaw is especially pronounced in the region of the jaw branch, coronal and condylar processes. The jaw branch is underdeveloped, shortened, thinned. The coronoid and condylar processes are also underdeveloped, and often absent altogether. In these cases, as a rule, the bone elements of the temporomandibular joint (articular tubercle, articular fossa, etc.) are underdeveloped or not determined. In severe cases, underdevelopment of the body of the lower jaw on the "sick" side is also determined radiologically. Together, this leads to the fact that the chin is shifted to the “sore” side.

Underdevelopment (narrowing and shortening) of the upper jaw, as well as the zygomatic bone, leads to flattening of the middle part of the face on the side of the lesion. In the oral cavity there is an oblique or cross bite, anomalies from the side of the teeth. On the side of the lesion, underdevelopment of the muscles of the tongue and soft palate is determined.

Syndrome of the 1st-2nd gill arches is always accompanied by an anomaly of the auricle of varying severity: from its underdevelopment (microotia) to complete aplasia of the auricle, when only the earlobe or a small skin-cartilaginous roller is preserved instead. In these patients, the external auditory canal is narrowed or overgrown, parotid skin and cartilage appendages, parotid fistulas, etc. can be detected.

Treatment of patients with the syndrome of the 1-2nd gill arches is long, multi-stage, complex (surgical-orthodontic) and very complex, aimed at restoring the shape and size of the jaws, auricle, etc., as well as restoring functions impaired as a result of the disease (chewing, hearing). In early childhood, starting from the milk bite and further until the end of the growth of the bones of the facial skeleton, orthodontic treatment is carried out. Starting from 8-9 years of age, otoplasty is possible. Starting from the age of 12-13, it is possible to perform osteoplastic operations on the jaws. However, the outcome of the treatment is not always comforting.

Pierre-Robin syndrome. Clinically, the pathology manifests itself in the form of a triad of symptoms: midline cleft palate, microgenia or underdevelopment of the lower jaw, and glossoptosis. All symptoms are detected immediately after the birth of the child. The severity of these symptoms can vary from mild to severe. In newborns, the development of dislocation asphyxia is possible when the child is positioned on the back. This most severe functional disorder can lead to the death of a child. Cyanosis and bouts of asphyxia are also characteristic during feeding of the child. Usually these children have a tendency to vomit. Due to the above and aspiration pneumonia, dystrophy and high mortality are often observed.

Treatment consists in the prevention of asphyxia and aspiration of food from the first days of a child's life. To do this, the tongue or lower jaw is fixed in an advanced anterior position using surgical or orthodontic methods. In some cases, it is enough to hold and nurse newborns on the stomach. Over time, the position of the lower jaw is stabilized by strengthening the muscles that push the lower jaw. In the future, for the rehabilitation of these children, myogymnastics, orthodontic treatment and palate plasty are required in the generally accepted terms.

Vanderwood syndrome - congenital symmetrical fistulas of the mucous glands of the lower lip in combination with congenital clefts of the upper lip and palate. The treatment consists in plastic surgery of the upper lip and palate at the usual time. Additionally, an operation is required to excise congenital fistulas of the lower lip, which is advisable to carry out at preschool age.

Franceschetti-Colins syndrome or maxillofacial dysostosis. The disease often has a family (hereditary) character. Its characteristic symptoms are bilateral underdevelopment of the zygomatic bones, upper and lower jaws, and auricles. For F.K. syndrome the anti-Mongoloid direction of the palpebral fissures is characteristic: the palpebral fissures are directed towards each other at an angle due to the omission of the outer corners of the eyes (eyes "house"). Often there is a coloboma or underdevelopment of the eyelids. The underdevelopment of the upper jaw is accompanied by the underdevelopment of the maxillary sinuses, anomalies of the teeth and occlusion. The auricles are underdeveloped to varying degrees. With aplasia of the auricles, there is atresia of the external auditory canals with partial or complete deafness. Macrostomy, ear appendages are possible. Sometimes there are also median cleft palate, cleft lip.

Treatment of patients with this pathology is long-term, phased and combined (orthodontic and surgical). It is carried out according to aesthetic and functional indications at different age periods, depending on the severity of the symptoms.

Craniofacial dysostosis (Crowson's s-m). The hereditary factor plays a significant role in the development of the disease. The brain skull is almost normal or somewhat reduced and deformed. The sutures are obliterated, overgrown. The base of the skull is shortened. There is a sharp underdevelopment of the upper jaw, eye sockets, zygomatic bones. As a result of this, a false exophthalmos is determined, and the eyes are protruding forward and to the sides, i.e. diverge. Due to the sharp underdevelopment of the upper jaw, crowding, retention, dystopia and other pathology of the teeth and dentition of the upper jaw, as well as false progeny, are revealed. Sometimes there are anomalies of the inner and middle ear.

Treatment of Crouzon's syndrome is most often palliative, symptomatic, aimed at eliminating individual symptoms of the disease (normalization of the position of the teeth or bite, facial contouring, etc.). Radical reconstructive surgical interventions on the bones of the facial and brain skeleton are carried out only in some major maxillofacial clinics in the world.

Cranio-clavicular dysostosis. The disease may be hereditary. Clinically characterized by an increase in the brain and a decrease in the facial part of the skull. The patient's forehead is large and wide, and the face is small. The bones of the middle part of the face, especially the upper jaw, are underdeveloped. Since the lower jaw is of normal size, a false progeny is formed. The pathology is characterized by multiple malformations of permanent teeth (dentia, retention, etc.). In addition, patients have underdevelopment or aplasia of the clavicles. In this regard, the shoulder girdle has pathological mobility - the patient can bring both shoulders together in front of the body.

The treatment of these patients in practice is most often palliative - the elimination of anomalies of the teeth, bite or facial contouring. Reconstructive operations on the bones are rare.

Indicators of laboratory research do not change. Possible: hypochromic anemia, hypoproteinemia, which is associated with malnutrition.

X-ray picture: depends on the type of malformation.

Indications for specialist consultation - in the presence of concomitant pathology:
- otorhinolaryngologist - the presence of an anatomical defect leads to pathological changes in the nasal cavity and nasopharynx and leads to such diseases as chronic rhinopharyngitis, turbinate hypertrophy, tonsillitis, tubootitis, etc.;
- consultation of a dentist, gynecologist for the rehabilitation of infections of the oral cavity and external genitalia;
- an allergist with manifestations of allergies;
- violations of the ECG, etc. are an indication for consultation with a cardiologist;
- in the presence of viral hepatitis, zoonotic and intrauterine and other infections - an infectious disease specialist.

Differential diagnosis: no.

List of main diagnostic measures:

1. Complete blood count (6 parameters).

2. General analysis of urine.

3. Biochemical blood test.

4. Examination of feces for worm eggs.

5. Determination of the clotting time of capillary blood.

6. Determination of blood group and Rh factor.

7. Consultation of an anesthesiologist.

List of additional diagnostic measures:

1. Computed tomography of the head and neck.

2. Panoramic radiography of the jaws.

3. Ultrasound of the abdominal organs.

4. Coagulogram.

5. Radiography of the jaw bones in two projections.

Prehospital:

1. UAC, OAM.

2. Biochemical analysis.

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Treatment

Treatment tactics

Purpose of treatment

Oblique facial cleft is a surgical treatment of this pathology, and it is carried out at different age periods depending on the complete symptom complex of the disease (upper lip plastic surgery, eyelid surgery, facial contouring, otoplasty, etc.).

Transverse cleft or marostomy - surgical treatment of macrostomy: reduction of the oral fissure to normal size.

Hypertellorism - surgical treatment of median clefts of the nose, depending on the severity of the pathology. In mild cases, plastic surgery of the alar cartilages and the tip of the nose can be performed. This operation can be performed at an earlier age (13-15 years). In more severe cases, a complete (including bone) rhinoplasty is required, which is usually performed after 17 years. In addition, with severe hypertelorism in adults, it is possible to perform a reconstructive operation on the frontal bone, upper jaw, and zygomatic bones in order to normalize the shape of the face.

S-m 1 and 2 gill arches - treatment of patients with the syndrome of the 1-2nd gill arches is long, multi-stage, complex (surgical-orthodontic) and very complex, aimed at restoring the shape and size of the jaws, auricle, etc., as well as the restoration of functions impaired as a result of the disease (chewing, hearing). In early childhood, starting from the milk bite and further until the end of the growth of the bones of the facial skeleton, orthodontic treatment is carried out. Starting from 8-9 years of age, otoplasty is possible. Starting from the age of 12-13, it is possible to perform osteoplastic operations on the jaws.

Microotia - plastic surgery of the auricle or otoplasty (in stages) starting from 8-9 years of age.

Atresia of the ear canal - plastic of the ear canal with local tissues.

Macroglossia - plastic reduction of the tongue to normal size.

Fistulas and cysts of the face and neck - removal within healthy tissues (cystectomy).

Protective mode, semi-bed. Diet table 1a, 1b.

Antibacterial therapy to prevent purulent-inflammatory complications (lincomycin, cephalosporins, macrolides, aminoglycosides). Infusion, symptomatic, vitamin therapy; hyposensitizing therapy. According to the indications, transfusion of FFP or erythrocyte mass.

Limiting mouth opening up to 1 month.

Rehabilitation in a dental clinic at the place of residence. Observation and treatment at the orthodontist at the place of residence. Dispensary observation of the maxillofacial surgeon at the place of residence. Therapeutic gymnastics. Speech therapist training. Rehabilitation at the audiologist. Sanitation of the oral cavity.

List of essential medicines:

Additional medicines in the department:

Anesthesia medications and in the department. AIT:

Healing of postoperative wounds by primary intention, elimination of a defect or deformity of the face. Restoration of the aesthetic appearance (except for cases of multi-stage operations). Restoration of organ function.

Hospitalization

Indications for hospitalization (planned):
- violation of the development of a particular area of ​​the face and neck (depending on the type of defect);
- dysfunction: eating, speech, hearing, chewing;
- cosmetic defect of the face or neck.

Information

Sources and literature

1. Protocols for the diagnosis and treatment of diseases of the Ministry of Health of the Republic of Kazakhstan (Order No. 239 of 04/07/2010)
   1. 1. A.I. Nerobeev, N.A. Plotnikov "Restorative surgery of soft tissues of the maxillofacial region". Moscow. 1997. 2. György Szabo "Surgery of the oral cavity and maxillofacial region". Kyiv. 2005 3. "Congenital malformations of the face and jaws." Article - Internet.

Information

Utepov D.K. doctor, maxillofacial surgeon of department No. 9.

Attached files

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