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ICD Hub / Endocrine, nutritional or metabolic diseases (E00–E89) / 5A00.01 - Permanent congenital hypothyroidism without goitre
ICD-11

ICD-11 Codes
for 5A00.01 - Permanent congenital hypothyroidism without goitre
Teodor Jurukovski January 1, 1970
Fact checked by: Teodor Jurukovski
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Understanding Permanent Congenital Hypothyroidism Without Goitre (ICD-11 Code 5A00.01)

Permanent congenital hypothyroidism without goitre, identified by the ICD-11 code 5A00.01, is a medical condition present from birth. It signifies a permanent state where the thyroid gland fails to produce an adequate amount of thyroid hormone. A key characteristic of this specific diagnosis is the absence of any swelling or enlargement of the thyroid gland (goitre). This condition is a form of congenital hypothyroidism, meaning the thyroid hormone deficiency is present at birth.

Recognizing the Signs of Congenital Hypothyroidism

Infants born with permanent congenital hypothyroidism without goitre may not show obvious symptoms immediately due to some transfer of maternal thyroid hormones. However, over the first few weeks of life, signs can emerge. These may include prolonged neonatal jaundice, lethargy, poor feeding, constipation, dry and brittle hair, a dull facial appearance, and a generally sluggish disposition. The absence of a goitre is a distinguishing feature for this particular classification.

Factors Contributing to Thyroid Hormone Deficiency at Birth

The primary causes of permanent congenital hypothyroidism without goitre often stem from developmental abnormalities of the thyroid gland itself, a condition known as thyroid dysgenesis. This can involve the gland being absent (agenesis), underdeveloped (hypoplasia), or located in an abnormal position (ectopia). Less commonly, the cause may be a defect in the thyroid gland's ability to produce thyroid hormones, referred to as dyshormonogenesis. While often sporadic, genetic factors can play a role in some instances.

Identifying Permanent Congenital Hypothyroidism Without Goitre

The diagnosis of permanent congenital hypothyroidism without goitre is typically initiated through newborn screening programmes. These programmes commonly measure thyroid-stimulating hormone (TSH) levels in a blood sample taken from the infant's heel shortly after birth. Elevated TSH levels suggest potential hypothyroidism. Confirmatory testing, including free thyroxine (fT4) and TSH blood tests, is then performed to establish the diagnosis. The ICD-11 code for this specific condition is 5A00.01.

Managing Thyroid Hormone Deficiency in Infants

Prompt treatment is crucial for infants diagnosed with permanent congenital hypothyroidism without goitre to prevent irreversible intellectual and developmental delays. Management involves lifelong thyroid hormone replacement therapy, most commonly with levothyroxine. The dosage is carefully determined and adjusted based on the infant's age, weight, and thyroid function test results. Regular monitoring by healthcare professionals is essential to ensure optimal thyroid hormone levels are maintained.

Accurate Medical Coding for 5A00.01

For accurate medical record-keeping, billing, and statistical analysis, the ICD-11 code 5A00.01 is used to denote Permanent congenital hypothyroidism without goitre. This specific code ensures that healthcare providers can precisely document the patient's condition. Proper use of this ICD-11 code is vital for clinical documentation, insurance claims, and public health reporting related to congenital thyroid disorders.

Frequently asked questions

What is the ICD-11 classification meaning of 5A00.01 Permanent congenital hypothyroidism without goitre?
ICD-11 code 5A00.01 represents a permanent congenital state in which the thyroid gland does not make enough thyroid hormone, and this diagnosis is without swelling of the thyroid gland.
How does ICD-11 distinguish between different types of congenital hypothyroidism?
ICD-11 uses specific codes to differentiate congenital hypothyroidism. For example, 5A00.01 is the code for permanent congenital hypothyroidism without goitre, distinguishing it from other related conditions.
What is the ICD-11 code for permanent congenital hypothyroidism when goitre is absent?
The ICD-11 code for permanent congenital hypothyroidism without goitre is 5A00.01.
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