infantile amaurotic familial disease

См. также в других словарях:

• Amaurotic familial idiocy — An outdated term for Tay Sachs disease (TSD) which is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age …   Medical dictionary

• Idiocy, amaurotic familial — An outdated term for Tay Sachs disease (TSD) which is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age …   Medical dictionary

• Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

• Disease, Tay-Sachs (TSD) — Deficiency of hexosaminidase A causes a disorder known as Tay Sachs disease (TSD) which is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic… …   Medical dictionary

• TAY-SACHS DISEASE — (Amaurotic Familial Idiocy). Amaurotic Familial Idiocy, known as the Tay Sachs Disease after W. Tay, an English ophthalmologist who discovered it in 1881, and B. Sachs, a U.S. neurologist who followed in 1887, is a hereditary disease,… …   Encyclopedia of Judaism

• Tay-Sachs disease — tā saks n a hereditary disorder of lipid metabolism that typically affects individuals of eastern European Jewish ancestry, that is marked by the accumulation of lipids esp. in nervous tissue due to a deficiency of hexosaminidase A, that is… …   Medical dictionary

• Tay-Sachs disease — noun a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood • Syn: ↑Tay Sachs, ↑Sachs disease,… …   Useful english dictionary

• monogenic disease — noun an inherited disease controlled by a single pair of genes • Syn: ↑monogenic disorder • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑ …   Useful english dictionary

• Tay-Sachs disease (TSD) — This disease is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2 or 3 years, results from deficiency …   Medical dictionary

• Neuronal ceroid lipofuscinosis — Classification and external resources ICD 10 E75.4 ICD 9 330.1 …   Wikipedia

• SICKNESS — HEALTH STATUS Introduction There are several available yardsticks for measuring intergroup differences in health status: (1) lifetime longevity, i.e., average expectation of life in years (calculated at birth or other selected points in the age… …   Encyclopedia of Judaism