The medical field relies heavily on precise coding systems for diagnoses, and the ICD-10-CM is a critical standard in the United States. Within this system, E72.12 stands out as the diagnosis code for Methylenetetrahydrofolate reductase (MTHFR) deficiency. This code is essential for medical billing, record-keeping, and tracking the prevalence of this genetic condition. Understanding what E72.12 represents is crucial for healthcare professionals and anyone seeking information on MTHFR deficiency.
What is ICD-10-CM Code E72.12?
ICD-10-CM code E72.12, specifically designates Methylenetetrahydrofolate reductase deficiency. It is categorized as a billable/specific code, meaning it is precise enough to be used for reimbursement claims. The code officially came into effect on October 1, 2015, with the 2016 version of ICD-10-CM, and the current 2025 edition, effective from October 1, 2024, remains unchanged for this code. It’s important to note that E72.12 is the American version of the code, and international versions of ICD-10 for the same condition may differ.
Within the ICD-10-CM system, E72.12 falls under the broader category of Disorders of sulfur-bearing amino-acid metabolism (E72.1) and further within Other disorders of amino-acid metabolism (E72). This classification helps to organize and group related metabolic disorders for diagnostic and statistical purposes.
Synonyms for MTHFR Deficiency Diagnosis Code
Several terms are used interchangeably with Methylenetetrahydrofolate reductase deficiency, all pointing back to the same diagnosis code, E72.12. These approximate synonyms include:
- 5,10-methylenetetrahydrofolate reductase deficiency
- Deficiency, methylenetetrahydrofolate reductase
- Methylenetetrahydrofolate reductase mutation
- Homozygous methylenetetrahydrofolate reductase mutation
- Heterozygous methylenetetrahydrofolate reductase mutation
These synonyms reflect the different ways the condition might be described in medical literature or clinical settings, but they all converge on the singular ICD-10-CM code for accurate classification.
E72.12 in Diagnostic Related Groups
For hospital billing and statistical analysis, ICD-10-CM codes are often grouped into Diagnostic Related Groups (MS-DRGs). E72.12, Methylenetetrahydrofolate reductase deficiency, is included within specific DRG groupings (MS-DRG v42.0), which helps standardize reimbursement and analyze healthcare utilization related to this type of diagnosis.
Code History and Context within ICD-10-CM
The code E72.12 was introduced in the 2016 ICD-10-CM edition and has remained stable through subsequent annual updates until the 2025 edition. This stability indicates a consistent and recognized diagnostic entity within the medical coding system. Understanding its place among adjacent codes, such as E72.11 (Homocystinuria) and E72.19 (Other disorders of sulfur-bearing amino-acid metabolism), provides further context to its specific nature within the spectrum of metabolic disorders.
In conclusion, E72.12 is the precise and billable diagnosis code for Methylenetetrahydrofolate reductase deficiency within the American ICD-10-CM system. Its understanding is vital for accurate medical coding, billing, and epidemiological tracking of this genetic condition.
