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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]
Triple Test (for diagnosis of downs syndrome) Estimation of hcg, Estriol, and AFP: Down's Syndrome: Trotter's triad: Conductive deafness, Immobility of homolateral soft palate, Trigeminal neuralgia: Nasopharyngeal carcinoma: Unhappy Triad (Also known as O'Donoghue's triad or a blown knee) Injury to the ACL, MCL, and meniscus (either medial or ...
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;
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
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 ...