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ICD Hub / Endocrine, nutritional or metabolic diseases (E00–E89) / 5A00.00 - Permanent congenital hypothyroidism with diffuse goitre
ICD-11

ICD-11 Codes
for 5A00.00 - Permanent congenital hypothyroidism with diffuse goitre
Teodor Jurukovski January 1, 1970
Fact checked by: Teodor Jurukovski
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Understanding Permanent Congenital Hypothyroidism with Diffuse Goitre

The ICD-11 code `5A00.00` represents Permanent congenital hypothyroidism with diffuse goitre. This condition signifies a permanent state where the thyroid gland, present from birth, does not produce sufficient thyroid hormone. A diffuse goitre, which is an enlargement of the thyroid gland, is also present. This diagnosis indicates a lifelong requirement for thyroid hormone management.

Causes of Permanent Congenital Hypothyroidism with Diffuse Goitre

The primary cause of permanent congenital hypothyroidism with diffuse goitre is often dyshormonogenesis, a group of inherited genetic disorders affecting thyroid hormone production. These genetic defects can impair various steps in the synthesis of thyroid hormones, leading to an underactive thyroid gland and, consequently, a goitre due to elevated thyroid-stimulating hormone (TSH). While other factors can cause congenital goitre, the permanent nature of this condition points towards intrinsic genetic abnormalities in thyroid hormone synthesis pathways.

Symptoms and Presentation of Congenital Hypothyroidism with Diffuse Goitre

Infants with permanent congenital hypothyroidism with diffuse goitre may exhibit a range of symptoms indicative of low thyroid hormone levels. These can include decreased activity, increased sleepiness, feeding difficulties, constipation, prolonged jaundice, and hypotonia (low muscle tone). Physically, a diffuse enlargement of the thyroid gland (goitre) will be present, which may be noticeable at birth or develop shortly after. In some cases, the enlarged thyroid can cause compression of the trachea, potentially affecting breathing and swallowing.

Diagnosing Congenital Hypothyroidism with Diffuse Goitre

The diagnosis of congenital hypothyroidism with diffuse goitre is typically confirmed through a combination of diagnostic procedures. Ultrasonography is used to assess the size and structure of the thyroid gland, confirming the presence of a diffuse goitre. Thyroid function tests, measuring levels of thyroid-stimulating hormone (TSH) and free thyroxine (T4), are crucial for identifying hypothyroidism. Genetic testing may also be considered to identify specific gene abnormalities contributing to dyshormonogenesis.

Management of Permanent Congenital Hypothyroidism with Diffuse Goitre

The cornerstone of managing permanent congenital hypothyroidism with diffuse goitre is lifelong thyroid hormone replacement therapy. Administering synthetic thyroid hormone ensures adequate levels for normal growth and development. Surgical intervention is rarely required but may be considered if the goitre causes significant compression symptoms affecting breathing or swallowing. Regular monitoring of thyroid hormone levels is essential throughout the individual's life.

ICD-11 Code for Permanent Congenital Hypothyroidism with Diffuse Goitre

For accurate medical record-keeping, billing, and statistical tracking, the official ICD-11 code for Permanent congenital hypothyroidism with diffuse goitre is `5A00.00`. This specific code ensures precise identification of the condition. Alternative terms or patient-friendly descriptions may include congenital hypothyroidism with enlarged thyroid or permanent infant hypothyroidism with goitre. This code is essential for healthcare providers, clinics, and SaaS platforms requiring precise diagnostic classification.

Frequently asked questions

What does ICD-11 code 5A00.00, Permanent congenital hypothyroidism with diffuse goitre, represent?
ICD-11 code 5A00.00 represents a permanent condition present at birth where the thyroid gland produces insufficient thyroid hormone, accompanied by an enlarged thyroid gland (diffuse goitre).
Under which chapter of the ICD-11 classification is Permanent congenital hypothyroidism with diffuse goitre (5A00.00) found?
Permanent congenital hypothyroidism with diffuse goitre (5A00.00) is classified under Chapter 05: Endocrine, nutritional or metabolic diseases.
How does ICD-11 code 5A00.00 distinguish between different types of congenital hypothyroidism?
ICD-11 code 5A00.00 specifically identifies permanent congenital hypothyroidism that includes a diffuse goitre, differentiating it from other forms of congenital hypothyroidism such as permanent congenital hypothyroidism without goitre (5A00.01) or transient congenital hypothyroidism (5A00.03).
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