ICD-11 Codes
for 5A00.0Y - Other specified congenital hypothyroidism

Teodor Jurukovski January 1, 1970

Fact checked by: Teodor Jurukovski

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Understanding Other Specified Congenital Hypothyroidism

Congenital hypothyroidism is a condition where an infant is born with a thyroid gland that produces insufficient or no thyroid hormone. The classification 'Other specified congenital hypothyroidism' (ICD-11 code 5A00.0Y) refers to specific, identified forms of this condition that do not fit into more narrowly defined categories. These are often associated with particular genetic syndromes or distinct clinical presentations.

Signs and Symptoms in Infants

Infants with congenital hypothyroidism may present with a range of symptoms, which can sometimes be subtle or go unnoticed initially. Common clinical features include:

• Decreased activity levels and increased sleepiness
• Feeding difficulties and constipation
• Prolonged jaundice after birth
• Myxedematous facies (a puffy facial appearance)
• Large fontanelles (soft spots on the baby's head), particularly the posterior fontanelle
• Macroglossia (an enlarged tongue)
• A distended abdomen, often with an umbilical hernia
• Hypotonia (low muscle tone)
• Dry, brittle hair

Underlying Causes and Associated Syndromes

The 'Other specified' category for congenital hypothyroidism often points to conditions with known genetic underpinnings. These can involve defects in thyroid gland development (thyroid dysgenesis) or issues with thyroid hormone synthesis (dyshormonogenesis). Specific syndromes associated with 5A00.0Y include:

• Bamforth-Lazarus syndrome, linked to mutations in the FOXE1 gene.
• Syndromes involving choreoathetosis, hypothyroidism, and neonatal respiratory distress, often due to NKX2-1 gene mutations.
• Allan-Herndon-Dudley syndrome (AHDS), an X-linked condition affecting intellectual development and hypotonia.
• Other specified congenital hypothyroidism may also be associated with chromosome abnormalities.

Alternative Names for 5A00.0Y

This condition is known by several other terms in medical literature and clinical practice, reflecting its varied presentations and associated syndromes. Common synonyms and related terms include:

• Permanent congenital hypothyroidism
• Syndromic permanent congenital hypothyroidism
• Young-Simpson syndrome
• Bamforth-Lazarus syndrome
• Kocher-Debre-Semelaigne syndrome
• Allan-Herndon-Dudley syndrome (AHDS)
• Hypothyroidism with dysmorphism and postaxial polydactyly and intellectual deficit
• Hypothyroidism with cleft palate

ICD-11 Coding for Other Specified Congenital Hypothyroidism

Accurate medical coding is essential for healthcare documentation and billing. The ICD-11 code for Other specified congenital hypothyroidism is 5A00.0Y. This code is used to report specific instances of congenital hypothyroidism that are identified but do not fall under more precise classifications like transient forms or those due to iodine deficiency. When documenting, healthcare professionals should ensure the diagnosis aligns with the clinical features and any identified genetic syndromes that classify it under this specific ICD-11 code. This code is reportable and billable for appropriate medical services.