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Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. [1] [2] [3] As such, the insensitivity to androgens is only clinically significant when it occurs in individuals who are exposed to significant amounts of testosterone at some point in their lives. [1]
A birth defect [a] is an abnormal condition that is present at birth, regardless of its cause. [2] Birth defects may result in disabilities that may be physical, intellectual, or developmental. [2]
Gestational trophoblastic disease (GTD) is a term used for a group of pregnancy-related tumours. [1] These tumours are rare, and they appear when cells in the womb start to proliferate uncontrollably.
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [2]
Based on clinical appearance, color blindness may be described as total or partial. Total color blindness (monochromacy) is much less common than partial color blindness. [27] Partial color blindness includes dichromacy and anomalous trichromacy, but is often clinically defined as mild, moderate or strong.
Blood in stool looks different depending on how early it enters the digestive tract—and thus how much digestive action it has been exposed to—and how much there is. The term can refer either to melena, with a black appearance, typically originating from upper gastrointestinal bleeding; or to hematochezia, with a red color, typically originating from lower gastrointestinal bleeding. [6]
The hexaxial reference system is a diagram that is used to determine the heart's electrical axis in the frontal plane.. In electrocardiography, left axis deviation (LAD) is a condition wherein the mean electrical axis of ventricular contraction of the heart lies in a frontal plane direction between −30° and −90°.
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.