- infantile amaurotic idiocy
- infantile amaurotic idiocy n1) TAY-SACHS DISEASE2) SANDHOFF'S DISEASE
Medical dictionary. 2011.
infantile amaurotic idiocy
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infantile amaurotic idiocy — 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 disease, ↑Tay Sachs,… … Useful english dictionary
Amaurotic familial idiocy — An outdated term for Tay Sachs disease (TSD) which is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive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Idiocy, amaurotic familial — An outdated term for Tay Sachs disease (TSD) which is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive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
Neuronal ceroid lipofuscinosis — Classification and external resources ICD 10 E75.4 ICD 9 330.1 … Wikipedia
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
autosomal recessive defect — noun a disease caused by the presence of two recessive mutant genes on an autosome • Syn: ↑autosomal recessive disease • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital … Useful english dictionary
autosomal recessive disease — noun a disease caused by the presence of two recessive mutant genes on an autosome • Syn: ↑autosomal recessive defect • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital di … 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
monogenic disorder — noun an inherited disease controlled by a single pair of genes • Syn: ↑monogenic disease • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑ … Useful english dictionary
