783768006: Autosomal recessive hyperinsulinism due to Kir6.2 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 Kir6.2 deficiency
• \Digestive system finding (finding)\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
• \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 Kir6.2 deficiency
• \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 Kir6.2 deficiency
• \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 Kir6.2 deficiency
• \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 Kir6.2 deficiency
• \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 Kir6.2 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
• \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 Kir6.2 deficiency
• \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 Kir6.2 deficiency
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
• \Disease\Congenital disease (disorder)\Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

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
3760288013	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760289017	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760290014	Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760291013	Autosomal recessive hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760292018	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).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3760293011	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 Kir6.2 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. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10049231000172119	hypoglycemie hyperinsulinemique autosomique récessive due à un déficit en Kir6.2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10049241000172114	hyperinsulinisme autosomique récessif dû à un déficit en Kir6.2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4881761000172110	autosomaal recessief hyperinsulinisme door Kir6.2-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4881771000172118	autosomaal recessief hyperinsulinisme door deficiëntie van Kir6.2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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