2024 ICD-10-CM Diagnosis Code E70.1

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

• 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
• Classical phenylketonuria
• Classical phenylketonuria
• Dihydropteridine reductase deficiency
• Disorder of tetrahydrobiopterin metabolism
• Disorder of tetrahydrobiopterin metabolism
• Disorder of tetrahydrobiopterin metabolism
• Disorder of tetrahydrobiopterin metabolism
• Disorder of tetrahydrobiopterin metabolism
• Disorder of tetrahydrobiopterin metabolism
• GTP cyclohydrolase I deficiency
• Hyperphenylalaninemia
• Hyperphenylalaninemia due to DNAJC12 deficiency
• Maternal phenylketonuria
• Persistent hyperphenylalaninemia
• Persistent hyperphenylalaninemia
• Persistent hyperphenylalaninemia AND tyrosinemia
• Phenylketonuria
• Phenylketonuria
• Phenylketonuria due to tetrahydrobiopterin deficiency
• Pterin-4-carbinolamine dehydratase deficiency
• Sepiapterin reductase deficiency
• Tetrahydrobiopterin synthesis defect
• Transient hyperphenylalaninemia

Convert E70.1 to ICD-9-CM

• ICD-9-CM Code: 270.1 - Phenylketonuria - pku
  Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.

Patient Education

Metabolic Disorders

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat.

A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy.

You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.

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Tetrahydrobiopterin deficiency

Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency. This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain.

Infants with tetrahydrobiopterin deficiency appear normal at birth, but medical problems ranging from mild to severe become apparent over time. Signs and symptoms of this condition can include intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature.

[Learn More in MedlinePlus]

Code History

• FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
• FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
• FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
• FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
• FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
• FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
• FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
• FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
• FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016. This was the first year ICD-10-CM was implemented into the HIPAA code set.