773666007: Hypoinsulinemic hypoglycemia and body hemihypertrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hypoinsulinism\Hypoinsulinemic hypoglycaemia and body hemihypertrophy

\Digestive system finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hypoinsulinism\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Disorder of endocrine pancreas\Hypoinsulinism\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Digestive system finding\Disorder of digestive system\Perinatal digestive system disorders\Hypoinsulinemic hypoglycaemia and body hemihypertrophy

\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\Hypoinsulinism\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\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\Hypoinsulinism\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\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\Hypoinsulinism\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\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\Hypoinsulinism\Hypoinsulinemic hypoglycaemia and body hemihypertrophy

\Finding of neonate\Neonatal disorder\...

\Neonatal disorder of endocrine system\Hypoinsulinemic hypoglycaemia and body hemihypertrophy

\Neonatal metabolic disorder\Neonatal hypoglycaemia\Hypoinsulinemic hypoglycaemia and body hemihypertrophy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Disorder of fetus or newborn\Perinatal digestive system disorders\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Disorder of fetus or newborn\Neonatal disorder\Neonatal disorder of endocrine system\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Disorder of fetus or newborn\Neonatal disorder\Neonatal metabolic disorder\Neonatal hypoglycaemia\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Disorder of body system\Disorder of endocrine system\Neonatal disorder of endocrine system\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Disorder of body system\Disorder of endocrine system\Hypoglycaemia\Neonatal hypoglycaemia\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hypoinsulinism\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Disorder of endocrine pancreas\Hypoinsulinism\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Disorder of body system\Disorder of digestive system\Perinatal digestive system disorders\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Disorder of endocrine pancreas\Hypoinsulinism\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Metabolic disease\Neonatal metabolic disorder\Neonatal hypoglycaemia\Hypoinsulinemic hypoglycaemia and body hemihypertrophy
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hypoglycaemic disorder\Hypoglycaemia\Neonatal hypoglycaemia\Hypoinsulinemic hypoglycaemia and body hemihypertrophy

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3725580018 Hypoinsulinemic hypoglycemia and body hemihypertrophy en Synonym Active Case insensitive SNOMED CT core

3725581019 Hypoinsulinemic hypoglycemia and body hemihypertrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3725582014 Hypoinsulinemic hypoglycaemia and body hemihypertrophy en Synonym Active Case insensitive SNOMED CT core

3725583016 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. en Definition Active Case sensitive SNOMED CT core

3725584010 A rare genetic endocrine disease characterised by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinaemic (or hypo ketotic hypo-fatty-acidaemic) hypoglycaemia 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypoinsulinemic hypoglycaemia and body hemihypertrophy	Finding site	Endocrine pancreatic structure	true	Inferred relationship	Some	1
Hypoinsulinemic hypoglycaemia and body hemihypertrophy	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hypoinsulinemic hypoglycaemia and body hemihypertrophy	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Hypoinsulinemic hypoglycaemia and body hemihypertrophy	Is a	Neonatal hypoglycaemia	true	Inferred relationship	Some
Hypoinsulinemic hypoglycaemia and body hemihypertrophy	Is a	Neonatal disorder of endocrine system	true	Inferred relationship	Some
Hypoinsulinemic hypoglycaemia and body hemihypertrophy	Is a	Hypoinsulinism	true	Inferred relationship	Some
Hypoinsulinemic hypoglycaemia and body hemihypertrophy	Occurrence	Neonatal	true	Inferred relationship	Some	1
Hypoinsulinemic hypoglycaemia and body hemihypertrophy	Is a	Perinatal digestive system disorders	true	Inferred relationship	Some
Hypoinsulinemic hypoglycaemia and body hemihypertrophy	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hypoinsulinemic hypoglycaemia and body hemihypertrophy	Interprets	Blood glucose concentration	true	Inferred relationship	Some	2
Hypoinsulinemic hypoglycaemia and body hemihypertrophy	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some

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
3725580018	Hypoinsulinemic hypoglycemia and body hemihypertrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
3725581019	Hypoinsulinemic hypoglycemia and body hemihypertrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3725582014	Hypoinsulinemic hypoglycaemia and body hemihypertrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
3725583016	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.	en	Definition	Active	Case sensitive	SNOMED CT core
3725584010	A rare genetic endocrine disease characterised by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinaemic (or hypo ketotic hypo-fatty-acidaemic) hypoglycaemia 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.	en	Definition	Active	Case sensitive	SNOMED CT core