Condition:1 | Methylene tetrahydrofolate reductase deficiency |
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SNOMED CT Code:3 | 41797007—5,10-Methylenetetrahydrofolate reductase deficiency UMLS CUI:4C0268615 |
ICD-9-CM Code:5 | 270.4—Disturbances of sulphur-bearing amino-acid metabolism |
ICD-10-CM Code:6 | E72.12—Methylenetetrahydrofolate reductase deficiency |
Oct 01, 2021 · Methylenetetrahydrofolate reductase deficiency. E72.12 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2022 edition of ICD-10-CM E72.12 became effective on October 1, 2021.
Oct 01, 2021 · Z13.79 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. Short description: Encntr for oth screening for genetic and chromsoml anomalies The 2022 edition of ICD-10-CM Z13.79 became effective on …
Oct 01, 2021 · Z13.39 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. Short description: Encntr screen exam for other mental hlth and behavrl disord The 2022 edition of ICD-10-CM …
May 01, 2020 · Methylene tetrahydrofolate reductase deficiency is caused by mutations in the MTHFR gene; it has an autosomal recessive pattern of inheritance. Names and Codes ... The Newborn Screening Coding and Terminology Guide uses some codes from the US Extension to SNOMED CT ... ICD-10-CM Code — International Classification of Diseases, Tenth Revision, ...
MTHFR testing may be performed on individuals with elevated homocysteine levels, those with a personal or family history of premature cardiovascular disease, and those who have family members with a known MTHFR mutation.
In turn, 5-methyltetrahydrofolate is involved in the conversion of homocysteine to methionine. MTHFR has an important role in maintaining folate and methionine levels, as well as helping to keep circulating homocysteine levels low. MTHFR is also involved in the methylation pathway, which has multiple, wide-ranging roles in the body, including regulation of gene expression and enzymatic activities1.
MTHFR catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the major circulating form of folate1 . In turn, 5-methyltetrahydrofolate is involved in the conversion of homocysteine to methionine. MTHFR has an important role in maintaining folate and methionine levels, as well as helping to keep circulating homocysteine levels low. MTHFR is also involved in the methylation pathway, which has multiple, wide-ranging roles in the body, including regulation of gene expression and enzymatic activities1.
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