783767001: Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)

\Digestive system finding (finding)\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Congenital disease (disorder)\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3760281019 Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3760282014 Autosomal recessive hyperinsulinism due to SUR1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3760283016 Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3760284010 Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3760285011 Autosomal recessive hyperinsulinemic hypoglycaemia due to SUR1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3760286012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3760287015 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 SUR1 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. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10020361000172114 hyperinsulinisme autosomique récessif dû à un déficit en SUR1 (sulfonylurea receptor 1) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10020371000172117 hypoglycemie hyperinsulinemique autosomique récessive due à un déficit en récepteur 1 des sulfonylurées fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10020381000172119 hyperinsulinisme autosomique récessif dû à un déficit en récepteur 1 des sulfonylurées fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4546551000172115 autosomaal recessief hyperinsulinisme door deficiëntie van sulfonylureumreceptor 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4546561000172118 autosomaal recessieve hyperinsulinemie door SUR1-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	Hyperinsulinism	true	Inferred relationship	Some
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Finding site	Endocrine pancreatic structure	true	Inferred relationship	Some	1
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3760281019	Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760282014	Autosomal recessive hyperinsulinism due to SUR1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760283016	Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760284010	Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760285011	Autosomal recessive hyperinsulinemic hypoglycaemia due to SUR1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760286012	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3760287015	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 SUR1 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. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10020361000172114	hyperinsulinisme autosomique récessif dû à un déficit en SUR1 (sulfonylurea receptor 1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10020371000172117	hypoglycemie hyperinsulinemique autosomique récessive due à un déficit en récepteur 1 des sulfonylurées	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10020381000172119	hyperinsulinisme autosomique récessif dû à un déficit en récepteur 1 des sulfonylurées	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4546551000172115	autosomaal recessief hyperinsulinisme door deficiëntie van sulfonylureumreceptor 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4546561000172118	autosomaal recessieve hyperinsulinemie door SUR1-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)