773649005: Transient infantile hypertriglyceridemia and hepatosteatosis (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\...
• \Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypertriglyceridaemia\Primary hypertriglyceridaemia\Familial hypertriglyceridaemia\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidaemia\Hypertriglyceridaemia\Primary hypertriglyceridaemia\Familial hypertriglyceridaemia\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypertriglyceridaemia\Primary hypertriglyceridaemia\Familial hypertriglyceridaemia\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\Steatosis of liver\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Digestive system finding\Liver finding\Liver disease\Steatosis of liver\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Digestive system finding\Disorder of digestive system\Acute digestive system disorder\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Steatosis of liver\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Steatosis of liver\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Steatosis of liver\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Steatosis of liver\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Steatosis of liver\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Disease\Degenerative disorder\Steatosis\Steatosis of liver\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Disease\Disorder of body system\Disorder of digestive system\Acute digestive system disorder\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Steatosis of liver\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Steatosis of liver\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Disease\Metabolic disease\Acute metabolic disorder\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidaemia\Hypertriglyceridaemia\Primary hypertriglyceridaemia\Familial hypertriglyceridaemia\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Disease\Acute disease\Acute metabolic disorder\Transient infantile hypertriglyceridaemia and hepatosteatosis
• \Disease\Acute disease\Acute digestive system disorder\Transient infantile hypertriglyceridaemia and hepatosteatosis

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3725388012	Transient infantile hypertriglyceridemia and hepatosteatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3725389016	Transient infantile hypertriglyceridemia and fatty liver	en	Synonym	Active	Case insensitive	SNOMED CT core
3725390013	Transient infantile hypertriglyceridemia and hepatosteatosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3725391012	Transient infantile hypertriglyceridaemia and hepatosteatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3725392017	Transient infantile hypertriglyceridaemia and fatty liver	en	Synonym	Active	Case insensitive	SNOMED CT core
3725393010	A rare genetic hepatic disease characterised by massive hepatomegaly, moderate to severe transient hypertriglyceridaemia and hepatic steatosis (followed by fibrosis) manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalisation of triglyceride serum levels occurs with advancing age. Caused by homozygous or compound heterozygous mutation in the GPD1 gene on chromosome 12q13.	en	Definition	Active	Case sensitive	SNOMED CT core
3725394016	A rare genetic hepatic disease characterized by massive hepatomegaly, moderate to severe transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis) manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age. Caused by homozygous or compound heterozygous mutation in the GPD1 gene on chromosome 12q13.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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