773649005: Transient infantile hypertriglyceridemia and hepatosteatosis (disorder)

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

\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Lipid level - finding\Lipids abnormal\Increased lipid\Hyperlipidemia\Hypertriglyceridaemia\Primary hypertriglyceridaemia\Familial hypertriglyceridemia\Transient infantile hypertriglyceridemia and hepatosteatosis

\Measurement finding outside reference range\Measurement finding above reference range\Increased lipid\Hyperlipidemia\Hypertriglyceridaemia\Primary hypertriglyceridaemia\Familial hypertriglyceridemia\Transient infantile hypertriglyceridemia and hepatosteatosis
\Measurement finding outside reference range\Lipids abnormal\Increased lipid\Hyperlipidemia\Hypertriglyceridaemia\Primary hypertriglyceridaemia\Familial hypertriglyceridemia\Transient infantile hypertriglyceridemia and hepatosteatosis

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Steatosis of liver\Transient infantile hypertriglyceridemia and hepatosteatosis

\Digestive system finding (finding)\Liver finding\Disease of liver\Steatosis of liver\Transient infantile hypertriglyceridemia and hepatosteatosis
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Transient infantile hypertriglyceridemia and hepatosteatosis
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Acute digestive system disorder\Transient infantile hypertriglyceridemia and hepatosteatosis
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disease of liver\Steatosis of liver\Transient infantile hypertriglyceridemia and hepatosteatosis

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Steatosis of liver\Transient infantile hypertriglyceridemia and hepatosteatosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Steatosis of liver\Transient infantile hypertriglyceridemia and hepatosteatosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disease of liver\Steatosis of liver\Transient infantile hypertriglyceridemia and hepatosteatosis
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Steatosis of liver\Transient infantile hypertriglyceridemia and hepatosteatosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Degenerative disorder\Steatosis\Steatosis of liver\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Acute digestive system disorder\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disease of liver\Steatosis of liver\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Steatosis of liver\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Metabolic disease\Acute metabolic disorder\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Hypertriglyceridaemia\Primary hypertriglyceridaemia\Familial hypertriglyceridemia\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Acute disease\Acute metabolic disorder\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Acute disease\Acute digestive system disorder\Transient infantile hypertriglyceridemia and hepatosteatosis

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

Descriptions:

Id Description Lang Type Status Case? Module

3725388012 Transient infantile hypertriglyceridemia and hepatosteatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3725389016 Transient infantile hypertriglyceridemia and fatty liver en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3725390013 Transient infantile hypertriglyceridemia and hepatosteatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3725391012 Transient infantile hypertriglyceridaemia and hepatosteatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3725392017 Transient infantile hypertriglyceridaemia and fatty liver en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

4209351000052110 övergående infantil hypertriglyceridemi och leversteatos sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Transient infantile hypertriglyceridemia and hepatosteatosis	Associated morphology	Fatty degeneration	true	Inferred relationship	Some	2
Transient infantile hypertriglyceridemia and hepatosteatosis	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Transient infantile hypertriglyceridemia and hepatosteatosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Transient infantile hypertriglyceridemia and hepatosteatosis	Finding site	Liver structure	true	Inferred relationship	Some	2
Transient infantile hypertriglyceridemia and hepatosteatosis	Is a	Acute digestive system disorder	true	Inferred relationship	Some
Transient infantile hypertriglyceridemia and hepatosteatosis	Interprets	Lipids measurement	true	Inferred relationship	Some	1
Transient infantile hypertriglyceridemia and hepatosteatosis	Is a	Steatosis of liver	true	Inferred relationship	Some
Transient infantile hypertriglyceridemia and hepatosteatosis	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Transient infantile hypertriglyceridemia and hepatosteatosis	Is a	Familial hypertriglyceridemia	true	Inferred relationship	Some
Transient infantile hypertriglyceridemia and hepatosteatosis	Occurrence	Infancy	true	Inferred relationship	Some	2
Transient infantile hypertriglyceridemia and hepatosteatosis	Is a	Acute metabolic disorder	true	Inferred relationship	Some
Transient infantile hypertriglyceridemia and hepatosteatosis	Clinical course	Transitory	true	Inferred relationship	Some	3

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
3725388012	Transient infantile hypertriglyceridemia and hepatosteatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725389016	Transient infantile hypertriglyceridemia and fatty liver	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725390013	Transient infantile hypertriglyceridemia and hepatosteatosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725391012	Transient infantile hypertriglyceridaemia and hepatosteatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725392017	Transient infantile hypertriglyceridaemia and fatty liver	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4209351000052110	övergående infantil hypertriglyceridemi och leversteatos	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)