C0205710 - A neurodegenerative disorder with autosomal recessive inheritance that presents in childhood and is characterized by spasticity, seizures, dementia, and liver disease.

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Lang Dictionary CODE			LUI	preferred no	SUI	preference Yes / No	Terms, descriptions
							CUI C0205710

Russian	MDRRUS	10062943	L15777645	preferred	S19020933	N	Болезнь Альперса
Russian	MDRRUS	10083857	L15777645	preferred	S19020933	N	Болезнь Альперса
Russian	MDRRUS	10083857	L15777645	preferred	S19020933	Y	Болезнь Альперса
	NCI Thesaurus				A15566701	AT198066679	A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the gene for the mitochondrial DNA polymerase POLG. Clinical signs are usually not present at birth but develop within the first two years of life and include hypoglycemia from underlying liver dysfunction, failure to thrive, spasticity, myoclonus and seizures. The clinical course follows a progression of neurologic disability and hepatic failure. The prognosis is poor with survival outside the first decade unlikely.
	NCI National Institute of Child Health and Human Development				A15566701	AT210375698	A neurodegenerative disorder with autosomal recessive inheritance that presents in childhood and is characterized by spasticity, seizures, dementia, and liver disease.