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Bloom syndrome is an autosomal recessive disorder, caused by mutations in the maternally- and paternally-derived copies of the gene BLM. [13] As in other autosomal recessive conditions, the parents of an individual with Bloom syndrome do not necessarily exhibit any features of the syndrome.
Organic personality disorder (OPD) or secondary personality change, is a condition described in the ICD-10 and ICD-11 respectively. It is characterized by a significant personality change featuring abnormal behavior due to an underlying traumatic brain injury or another pathophysiological medical condition affecting the brain.
The table below features some symptoms that can be present in disorders associated with particular genes, but the occurrence and severity of these symptoms are variable. There are only a few cases reported for GRIN2D-related disorder so far; therefore, listed features may not accurately reflect the spectrum of findings in this disorder.
The International Classification of Diseases (ICD) also listed the condition as Immature personality (321) in the ICD-6 [8] and ICD-7. [9] The ICD-8 introduced Other personality disorder (301.8) [10] which became the main diagnosis adding "immature" as a type specifier. This classification was shared by the ICD-9 and ICD-10 . The specifier was ...
The International Classification of Diseases (ICD) is an international standard diagnostic classification for a wide variety of health conditions. The ICD-10 states that mental disorder is "not an exact term", although is generally used "...to imply the existence of a clinically recognisable set of symptoms or behaviours associated in most cases with distress and with interference with ...
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]
The diagnosis is made either by testing of the fumarate hydratase activity in cultured skin fibroblasts or lymphoblastoid cells and demonstrating reduced activity (≤60%) or by molecular genetic testing. [3] Special histologic features of fibroids may allow an early diagnosis in absence of other symptoms. [4]
Kleefstra syndrome affects males and females equally and approximately 75% of all documented cases are caused by Eu-HMTase1 disruptions while only 25% are caused by 9q34.3 deletions. [3] There are no statistics on the effect the disease has on life expectancy due to the lack of information available.