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ICD Hub / Endocrine, nutritional or metabolic diseases (E00–E89) / 5A00.0 - Congenital hypothyroidism
ICD-11

ICD-11 Codes
for 5A00.0 - Congenital hypothyroidism
Teodor Jurukovski January 1, 1970
Fact checked by: Teodor Jurukovski
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Understanding Congenital Hypothyroidism

Congenital hypothyroidism (CHT) is a medical condition present at birth where the thyroid gland is absent, underdeveloped, or unable to produce sufficient thyroid hormone. This deficiency means the body lacks the necessary thyroid hormone for normal growth and development, particularly crucial for brain development in infants. The term 'congenital' signifies that the condition is present from birth. In most cases, the exact cause is unknown, and it cannot be prevented.

Factors Contributing to Congenital Hypothyroidism

The development of the thyroid gland begins early in pregnancy. Congenital hypothyroidism can arise from:
  • Thyroid Dysgenesis: The thyroid gland fails to develop properly, may be in the wrong location (ectopic), or is entirely absent. The risk of recurrence for this type is generally low.
  • Dyshormonogenesis: The thyroid gland develops and is in the correct position but has a defect in its hormone production pathway. This type can sometimes be inherited if a baby inherits a faulty gene from one or both parents, potentially affecting siblings.

Signs and Symptoms in Newborns

Many babies born with congenital hypothyroidism appear entirely normal at birth and may not show obvious symptoms. This is why newborn screening is vital. When symptoms do appear, they can be subtle and may include:
  • Increased sleepiness and difficulty feeding
  • Prolonged jaundice after birth
  • Constipation
  • Low muscle tone (floppiness)
  • Cold extremities
  • Poor growth
  • A hoarse cry or dry skin
Prompt treatment ensures that children typically develop within normal limits.

Identifying Congenital Hypothyroidism

Newborn screening programmes are essential for early detection. In the UK, all babies undergo a heel-prick blood test around five days after birth. This test measures thyroid-stimulating hormone (TSH). If TSH levels are high, it indicates that the thyroid hormone levels may be low, prompting a further blood test from a vein to confirm the diagnosis. Early diagnosis, ideally before two to three weeks of age, is critical to prevent long-term developmental issues.

Managing Thyroid Hormone Levels

The primary treatment for congenital hypothyroidism involves hormone replacement therapy. If a baby tests positive, management is typically overseen by a paediatric endocrinologist. Treatment with levothyroxine (synthetic thyroid hormone, T4) begins immediately. The dosage is carefully calculated based on the baby's weight and adjusted regularly as the child grows, monitored through blood tests. Levothyroxine is usually taken daily for life. When administered correctly and monitored regularly, children with CHT can lead normal lives, attend mainstream schools, and achieve independence as adults.

Alternative Names for Congenital Hypothyroidism

Congenital hypothyroidism is also known by several other terms, including:
  • Congenital thyroid dysfunction
  • Inborn hypothyroidism
  • Neonatal hypothyroidism
  • Congenital thyroid deficiency
Patient-friendly terms such as 'underactive thyroid' or 'low thyroid' may also be used.

Coding and Documentation for Congenital Hypothyroidism

The official ICD-11 code for Congenital hypothyroidism is 5A00.0. This code is used for accurate medical record-keeping and billing. Specific sub-classifications exist within this code, such as `5A00.00` (Permanent congenital hypothyroidism with diffuse goitre) and `5A00.01` (Permanent congenital hypothyroidism without goitre), allowing for precise documentation of the condition's characteristics. Accurate coding is crucial for reporting, statistical analysis, and ensuring appropriate reimbursement for healthcare services related to this condition.

Frequently asked questions

What is the ICD-11 classification for congenital hypothyroidism?
Congenital hypothyroidism is classified under ICD-11 code 5A00.
How are specific types of congenital hypothyroidism categorized in ICD-11?
ICD-11 categorizes congenital hypothyroidism into specific types such as permanent congenital hypothyroidism with diffuse goitre (5A00.00), permanent congenital hypothyroidism without goitre (5A00.01), Pendred syndrome (5A00.02), transient congenital hypothyroidism (5A00.03), and congenital hypothyroidism due to iodine deficiency (5A00.04).
When should the unspecified category for congenital hypothyroidism be used in ICD-11?
The unspecified category, Congenital hypothyroidism, unspecified (5A00.0Z), should be used when the documentation does not provide sufficient detail to assign a more specific code.
What is the ICD-11 code for other specified congenital hypothyroidism?
For congenital hypothyroidism that does not fit into the more specific categories, ICD-11 provides the code Other specified congenital hypothyroidism (5A00.0Y).
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