Specific code 2014 ICD-9-CM Diagnosis Code 271.1
Galactosemia
  • Billable Code
  • ICD-9-CM 271.1 will be replaced by an equivalent ICD-10-CM code (or codes) when the United States transitions from ICD-9-CM to ICD-10-CM on October 1, 2015.
  • ICD-9-CM 271.1 is a billable medical code that can be used to specify a diagnosis on a reimbursement claim.
Disease Synonyms
  • Classical galactosemia, homozygous Duarte-type
  • Disorder of galactose metabolism
  • Galactose metabolism disorder
  • Galactosemia (duarte)
  • Galactosemia, duarte variant
Clinical Information
  • A group of inherited enzyme deficiencies which feature elevations of galactose in the blood. This condition may be associated with deficiencies of galactokinase; udpglucose-hexose-1-phosphate uridylyltransferase; or udpglucose 4-epimerase. The classic form is caused by udpglucose-hexose-1-phosphate uridylyltransferase deficiency, and presents in infancy with failure to thrive; vomiting; and intracranial hypertension. Affected individuals also may develop mental retardation; jaundice; hepatosplenomegaly; ovarian failure (primary ovarian insufficiency); and cataracts. (from menkes, textbook of child neurology, 5th ed, pp61-3)
  • An autosomal recessive inherited metabolic disorder caused by mutations in the gale, galk1, and galt genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.
  • Group of inherited enzyme deficiencies which feature elevations of galactose in the blood; this condition may be associated with deficiencies of galactokinase, udp glucose-hexose-1-phosphate uridylyltransferase (classic form), or udp glucose 4-epimerase; the classic form presents in infancy with failure to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts.
Applies To
  • Galactose-1-phosphate uridyl transferase deficiency
  • Galactosuria
Convert to ICD-10-CM: 271.1 converts approximately to:
  • 2014 ICD-10-CM E74.21 Galactosemia
ICD-9-CM Volume 2 Index entries containing back-references to 271.1:
ICD-9-CM codes are used in medical billing and coding to describe diseases, injuries, symptoms and conditions. ICD-9-CM 271.1 is one of thousands of ICD-9-CM codes used in healthcare. Although ICD-9-CM and CPT codes are largely numeric, they differ in that CPT codes describe medical procedures and services. Can't find a code? Start at the root of ICD-9-CM, check the 2014 ICD-9-CM Index or use the search engine at the top of this page to lookup any code.