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The most common presentation of 45,X/46,XY karyotype is phenotypically normal male, next being genital ambiguity. [ 8 ] There is a range of chromosomal anomalies within 45,X/46,XY where the variations are very complex, and the actual result in living individuals is often not a simple picture. [ 1 ]
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]
Uncombable hair syndrome (UHS) is a rare structural anomaly of the hair with a variable degree of effect. It is characterized by hair that is silvery, dry, frizzy, wiry, and impossible to comb. [4] It was first reported in the early 20th century. [5] It typically becomes apparent between the ages of 3 months and 12 years. [6]
48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell.Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics.
XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype. [2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [3] [4] [5] [6]
Europe and other parts of the world use the ICD-10. 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]
Under the proposal, the ICD-9-CM code sets would be replaced with the ICD-10-CM code sets, effective October 1, 2013. On April 17, 2012, the Department of Health and Human Services (HHS) published a proposed rule that would delay the compliance date for the ICD-10-CM and PCS by 12 months-from October 1, 2013, to October 1, 2014. [4]
Pseudohermaphroditism is an outdated [1] term for when an individual's gonads were mismatched with their internal reproductive system and/or external genitalia. The term was contrasted with "true hermaphroditism" (now known as ovotesticular syndrome), a condition describing an individual with both female and male reproductive gonadal tissues.