721235003: Hyperinsulinism due to insulin receptor deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to insulin receptor deficiency

\Digestive system finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to insulin receptor deficiency
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hyperinsulinism due to insulin receptor deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to insulin receptor deficiency

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to insulin receptor deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to insulin receptor deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to insulin receptor deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to insulin receptor deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Hyperinsulinism due to insulin receptor deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hyperinsulinism due to insulin receptor deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hyperinsulinism due to insulin receptor deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Hyperinsulinism due to insulin receptor deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hyperinsulinism due to insulin receptor deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Hyperinsulinism due to insulin receptor deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to insulin receptor deficiency
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hyperinsulinism due to insulin receptor deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to insulin receptor deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to insulin receptor deficiency
\Disease\Familial disease\Hyperinsulinism due to insulin receptor deficiency
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Hyperinsulinism due to insulin receptor deficiency

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3324728012 Hyperinsulinism due to insulin receptor deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3324729016 Hyperinsulinism due to insulin receptor deficiency en Synonym Active Case insensitive SNOMED CT core

3324732018 Hyperinsulinism due to INSR (insulin receptor) deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3324730014 A very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset. en Definition Active Case sensitive SNOMED CT core

3324731013 A very rare autosomal dominant form of familial hyperinsulinism characterised clinically in the single reported family by postprandial hypoglycaemia, fasting hyperinsulinaemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperinsulinism due to insulin receptor deficiency	Due to	Insulin receptor defect	true	Inferred relationship	Some	2
Hyperinsulinism due to insulin receptor deficiency	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hyperinsulinism due to insulin receptor deficiency	Is a	Hyperinsulinism	true	Inferred relationship	Some
Hyperinsulinism due to insulin receptor deficiency	Is a	Familial disease	true	Inferred relationship	Some
Hyperinsulinism due to insulin receptor deficiency	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Hyperinsulinism due to insulin receptor deficiency	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Hyperinsulinism due to insulin receptor deficiency	Finding site	Endocrine pancreatic structure	false	Inferred relationship	Some
Hyperinsulinism due to insulin receptor deficiency	Occurrence	Congenital	false	Inferred relationship	Some	1
Hyperinsulinism due to insulin receptor deficiency	Finding site	Endocrine pancreatic structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3324728012	Hyperinsulinism due to insulin receptor deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3324729016	Hyperinsulinism due to insulin receptor deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3324732018	Hyperinsulinism due to INSR (insulin receptor) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3324730014	A very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset.	en	Definition	Active	Case sensitive	SNOMED CT core
3324731013	A very rare autosomal dominant form of familial hyperinsulinism characterised clinically in the single reported family by postprandial hypoglycaemia, fasting hyperinsulinaemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset.	en	Definition	Active	Case sensitive	SNOMED CT core