C0004903 - A complex syndrome resulting from various genetic and epigenetic anomalies of the 11p15.5 chromosomal region, leading to dysregulated expression of imprinted genes. Specific genes involved include CDKN1C, H19, IGF2, and KCNQ1OT1. One of the key genetic anomalies is an imbalance between the paternally expressed IGF2 growth enhancer gene and the maternally expressed H19 growth suppressor gene, leading to fetal and postnatal overgrowth. The condition is typically characterized by macrosomia, macroglossia, umbilical hernia or more severe abdominal wall anomalies such as omphalocele, ear lobe indentations, and hypoglycemia associated with hyperinsulinemia due to pancreatic islet cell hyperplasia. Patients with this syndrome have an increased risk for development of embryonal tumors (particularly Wilms tumor and hepatoblastoma) and adrenal cortex carcinoma.

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Lang Dictionary CODE			LUI	preferred no	SUI	preference Yes / No	Terms, descriptions
							CUI C0004903

Russian	Medical Subject Headings Russian	D001506	L3340460	preferred	S3867941	Y	БЕКВИТА-ВИДЕМАННА СИНДРОМ
Russian	Medical Subject Headings Russian	D001506	L0890918	no	S1094735	Y	BEKVITA-VIDEMANNA SINDROM
Russian	Medical Subject Headings Russian	D001506	L1522428	no	S1818337	Y	GRYZHI PUPOCHNOI-MAKROGLOSSII-GIGANTIZMA SINDROM
Russian	MDRRUS	10050344	L15729777	no	S19079261	N	Синдром Беквита-Видеманна
Russian	MDRRUS	10050344	L15729777	no	S19079261	Y	Синдром Беквита-Видеманна
Russian	Medical Subject Headings Russian	D001506	L3346611	no	S3874094	Y	ГРЫЖИ ПУПОЧНОЙ-МАКРОГЛОССИИ-ГИГАНТИЗМА СИНДРОМ
	Medical Subject Headings				A0029494	AT53895114	A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
	(JABL) Congenital Mental Retardation Syndromes				A1703028	AT14332116	Enlarged tongue, omphalocele and other umbilical abnormalities, cytomegaly of the adrenal cortex, hyperplasia of gonadal interstitial cells, renal hyperplasia with medullary dysplasia, pancreatic hyperplasia, visceromegaly, and hypoglycemia with various neoplastic diseases and other disorders.
	NCI NCI Dictionary of Cancer Terms				A7569055	AT198017452	A rare, overgrowth disorder in which babies are large at birth and may develop low blood sugar. Other common symptoms are a large tongue, large internal organs, and defects of the abdominal wall near the navel. Beckwith-Wiedemann syndrome increases the risk of developing certain cancers, especially Wilms tumor.
	NCI Thesaurus				A7569055	AT198017453	A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, Rhabdomyosarcoma) and adrenal cortex carcinomas.
	NCI National Institute of Child Health and Human Development				A7569055	AT224186404	A complex syndrome resulting from various genetic and epigenetic anomalies of the 11p15.5 chromosomal region, leading to dysregulated expression of imprinted genes. Specific genes involved include CDKN1C, H19, IGF2, and KCNQ1OT1. One of the key genetic anomalies is an imbalance between the paternally expressed IGF2 growth enhancer gene and the maternally expressed H19 growth suppressor gene, leading to fetal and postnatal overgrowth. The condition is typically characterized by macrosomia, macroglossia, umbilical hernia or more severe abdominal wall anomalies such as omphalocele, ear lobe indentations, and hypoglycemia associated with hyperinsulinemia due to pancreatic islet cell hyperplasia. Patients with this syndrome have an increased risk for development of embryonal tumors (particularly Wilms tumor and hepatoblastoma) and adrenal cortex carcinoma.