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78696007: Endocrine pancreatic structure (body structure)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
130585016 Endocrine pancreas en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
130586015 Islets of Langerhans en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
130587012 Pancreatic islets en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
503896012 Endocrine pancreatic structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
819664016 Endocrine pancreatic structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4179781000005119 endokrin pancreasstruktur da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


11 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Endocrine pancreatic structure Is a Structure of endocrine system (body structure) false Inferred relationship Some
Endocrine pancreatic structure Is a Microscopic pancreas structure true Inferred relationship Some
Endocrine pancreatic structure del af Entire pancreas false Additional relationship Some
Endocrine pancreatic structure del af Entire endocrine system false Additional relationship Some
Endocrine pancreatic structure Is a Endocrine gland structure (body structure) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY). Finding site False Endocrine pancreatic structure Inferred relationship Some
A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature. Finding site False Endocrine pancreatic structure Inferred relationship Some
A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment. Finding site False Endocrine pancreatic structure Inferred relationship Some
Hyperinsulinism due to focal adenomatous hyperplasia (disorder) Finding site False Endocrine pancreatic structure Inferred relationship Some 1
Structure of transplanted pancreatic islets Is a False Endocrine pancreatic structure Inferred relationship Some
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure. Finding site False Endocrine pancreatic structure Inferred relationship Some
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life. Finding site False Endocrine pancreatic structure Inferred relationship Some
A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. Finding site False Endocrine pancreatic structure Inferred relationship Some
Hypoinsulinemia following procedure (disorder) Finding site True Endocrine pancreatic structure Inferred relationship Some 2
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. Finding site False Endocrine pancreatic structure Inferred relationship Some
Pancreatic polypeptidoma Finding site True Endocrine pancreatic structure Inferred relationship Some 2
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. Finding site True Endocrine pancreatic structure Inferred relationship Some 1
A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (recessive forms of diazoxide-resistant hyperinsulinism). Finding site True Endocrine pancreatic structure Inferred relationship Some 1
A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations. Finding site True Endocrine pancreatic structure Inferred relationship Some 1
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY). Finding site True Endocrine pancreatic structure Inferred relationship Some 1
A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature. Finding site True Endocrine pancreatic structure Inferred relationship Some 1
A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment. Finding site True Endocrine pancreatic structure Inferred relationship Some 1
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life. Finding site True Endocrine pancreatic structure Inferred relationship Some 1
A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. Finding site True Endocrine pancreatic structure Inferred relationship Some 1
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure. Finding site True Endocrine pancreatic structure Inferred relationship Some 1
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. Finding site True Endocrine pancreatic structure Inferred relationship Some 1
Transient neonatal hypoglycemia due to hyperinsulinemia (disorder) Finding site True Endocrine pancreatic structure Inferred relationship Some 3
hypogonadisme, diabetes mellitus, alopeci, mental retardering og elektrokardiografiske anomalier Finding site False Endocrine pancreatic structure Inferred relationship Some 1
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Finding site True Endocrine pancreatic structure Inferred relationship Some 5
Hypoglycemia unawareness due to type 2 diabetes mellitus Finding site False Endocrine pancreatic structure Inferred relationship Some 3
A rare genetic endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypo ketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. There is evidence the disease can be caused by heterozygous mutation in the AKT2 gene on chromosome 19q13. Finding site True Endocrine pancreatic structure Inferred relationship Some 1
A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. Finding site True Endocrine pancreatic structure Inferred relationship Some 1
A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycaemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycaemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycaemic coma or status epilepticus, further leading to poor neurological outcome. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11). Finding site True Endocrine pancreatic structure Inferred relationship Some 1
A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11). Finding site True Endocrine pancreatic structure Inferred relationship Some 1
A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycaemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycaemia, hyperglycaemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycaemic coma or status epilepticus have also been associated. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. Finding site True Endocrine pancreatic structure Inferred relationship Some 1
Hyperinsulinemia due to malignant insulinoma Finding site True Endocrine pancreatic structure Inferred relationship Some 2
Hyperinsulinemia due to benign insulinoma Finding site False Endocrine pancreatic structure Inferred relationship Some 2
Gastrinoma of pancreas Finding site False Endocrine pancreatic structure Inferred relationship Some 1
Alstrom syndrome Finding site True Endocrine pancreatic structure Inferred relationship Some 6
Metastatic carcinoma to endocrine pancreas (disorder) Finding site True Endocrine pancreatic structure Inferred relationship Some 1
Primary carcinoma of endocrine pancreas Finding site True Endocrine pancreatic structure Inferred relationship Some 1
A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. Finding site True Endocrine pancreatic structure Inferred relationship Some 2
Malignant glucagonoma of pancreas (disorder) Finding site True Endocrine pancreatic structure Inferred relationship Some 1
Primary malignant glucagonoma of pancreas Finding site True Endocrine pancreatic structure Inferred relationship Some 1
Glucagonoma of uncertain behavior Finding site False Endocrine pancreatic structure Inferred relationship Some 1
Growth hormone releasing factor-secreting tumor of pancreas Finding site True Endocrine pancreatic structure Inferred relationship Some 1
Gastric inhibitory peptide-secreting tumor of pancreas (disorder) Finding site True Endocrine pancreatic structure Inferred relationship Some 1
Parathyroid hormone-related peptide-secreting tumor of pancreas (disorder) Finding site True Endocrine pancreatic structure Inferred relationship Some 1
Familial hyperinsulinemic hypoglycaemia Finding site True Endocrine pancreatic structure Inferred relationship Some 1

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