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This mutation is associated with diverse health issues, however H63D syndrome is the only known specific expression of a homozygous HFE-H63D mutation to date. The homozygous HFE-H63D mutation is the cause of classic and treatable hemochromatosis in only 6.7% of its carriers. [ 25 ]
One of the better-characterized genes responsible for hereditary haemochromatosis is HFE [26] on chromosome 6, which codes for a transmembrane protein involved in the induction of hepcidin expression upon high iron load. The HFE gene has three often observed genetic variants: [27] [28] rs1799945, c.187C>G, p.His63Asp (H63D); rs1800562, c.845G>A, p.
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
This is a shortened version of the sixteenth chapter of the ICD-9: Symptoms, Signs and Ill-defined Conditions. It covers ICD codes 780 to 799. The full chapter can be found on pages 455 to 471 of Volume 1, which contains all (sub)categories of the ICD-9. Volume 2 is an alphabetical index of Volume 1.
In health care, diagnosis codes are used as a tool to group and identify diseases, disorders, symptoms, poisonings, adverse effects of drugs and chemicals, injuries and other reasons for patient encounters. Diagnostic coding is the translation of written descriptions of diseases, illnesses and injuries into codes from a particular classification.
The root codes for ICD-10 and ICD-10-CM are the same, making it helpful for locating codes for general body systems and disease processes. [ 2 ] [ 3 ] In ICD-11 the search and coding of any disease, including rare ones is done via the ICD-11 website. [ 4 ]
Triple X syndrome; Triploid syndrome; Trisomy 8; Tropical splenomegaly syndrome; Trotter's syndrome; Truman Syndrome; Tsukuhara syndrome; Tumor lysis syndrome; Tumor necrosis factor receptor associated periodic syndrome; Turner syndrome; Twiddler's syndrome; Twin Anemia-Polycythemia Sequence; Twin-to-twin transfusion syndrome