C0002986 - x-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of alpha-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems.

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Lang Dictionary CODE			LUI	preferred no	SUI	preference Yes / No	Terms, descriptions
							CUI C0002986

Russian	Medical Subject Headings Russian	D000795	L3373676	preferred	S3901169	Y	ФАБРИ БОЛЕЗНЬ
Russian	Medical Subject Headings Russian	D000795	L0890051	no	S1093868	Y	ANGIOKERATOMA TULOVISHCHA DIFFUZNAIA
Russian	Medical Subject Headings Russian	D000795	L14424816	no	S17508364	Y	ANGIOKERATOMA DIFFUZNAIA
Russian	Medical Subject Headings Russian	D000795	L14432901	no	S17539803	Y	АНГИОКЕРАТОМА ДИФФУЗНАЯ
Russian	Medical Subject Headings Russian	D000795	L1508513	no	S1804422	Y	ANDERSONA-FABRI BOLEZN'
Russian	Medical Subject Headings Russian	D000795	L1519274	no	S1815183	Y	FABRI BOLEZN'
Russian	MDRRUS	10071118	L15715032	no	S19049986	Y	Недостаточность альфа-галактозидазы А
Russian	MDRRUS	10002458	L15723707	no	S19031583	Y	Диффузная ангиокератома туловища
Russian	MDRRUS	10016016	L15766728	no	S19021162	N	Болезнь Фабри
Russian	MDRRUS	10016016	L15766728	no	S19021162	Y	Болезнь Фабри
Russian	Medical Subject Headings Russian	D000795	L3338369	no	S3865850	Y	АНГИОКЕРАТОМА ТУЛОВИЩА ДИФФУЗНАЯ
Russian	Medical Subject Headings Russian	D000795	L3338439	no	S3865920	Y	АНДЕРСОНА-ФАБРИ БОЛЕЗНЬ
	Medical Subject Headings				A0057571	AT64677240	An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
	NCI Thesaurus				A17686389	AT198011515	A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.
	NCI National Institute of Child Health and Human Development				A17686389	AT210364256	An X-linked lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A, which results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.
	LOINC				A28306387	AT206777735	Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin calle
	(CPTSP) CRISP Thesaurus				A8256342	AT51225125	x-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of alpha-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems.