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Human chromosome 1. The breakpoints for 1p36 deletion syndrome have been variable and are most commonly found from 1p36.13 to 1p36.33. 40 percent of all breakpoints occur 3 to 5 million base pairs from the telomere. The size of the deletion ranges from approximately 1.5 million base pairs to greater than 10 million. [9]
The Trilogy of Fallot also called Fallot's trilogy is a rare congenital heart disease consisting of the following defects: pulmonary valve stenosis, right ventricular hypertrophy and atrial septal defect. [1] It occurs in 1.2% of all congenital heart defects. [2]
AC 1/4: Grade 1 anterior chamber angle: AC 0/4: Grade 0 anterior chamber angle: closed angle between cornea and iris AC/A: Accommodative convergence / Accommodation ratio the portion of the range of convergence that occurs in response to accommodation: Acc: Accommodation: process of changing optical power to maintain focus as distance changes ...
Tetralogy of Fallot (TOF), formerly known as Steno-Fallot tetralogy, [9] is a congenital heart defect characterized by four specific cardiac defects. [4] Classically, the four defects are: [ 4 ] pulmonary stenosis , which is narrowing of the exit from the right ventricle;
The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below).This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.
Machine differential diagnosis is the use of computer software to partly or fully make a differential diagnosis. It may be regarded as an application of artificial intelligence. Alternatively, it may be seen as "augmented intelligence" if it meets the FDA criteria, namely that (1) it reveals the underlying data, (2) reveals the underlying logic ...
Persistent fetal vasculature (PFV), also known as persistent fetal vasculature syndrome (PFVS), and until 1997 known primarily as persistent hyperplastic primary vitreous (PHPV), [1] is a rare congenital anomaly which occurs when blood vessels within the developing eye, known as the embryonic hyaloid vasculature network, fail to regress as they normally would in-utero after the eye is fully ...
The Marcus Gunn pupil is a relative afferent pupillary defect indicating a decreased pupillary response to light in the affected eye. [3] In the swinging flashlight test, a light is alternately shone into the left and right eyes. A normal response would be equal constriction of both pupils, regardless of which eye the light is directed at.