773649005: Transient infantile hypertriglyceridemia and hepatosteatosis (disorder)

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

\Viscus structure finding (finding)\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Steatosis of liver (disorder)\Transient infantile hypertriglyceridemia and hepatosteatosis

\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Steatosis of liver (disorder)\Transient infantile hypertriglyceridemia and hepatosteatosis
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Steatosis of liver (disorder)\Transient infantile hypertriglyceridemia and hepatosteatosis

\Procedure related finding\Familial hypertriglyceridemia\Transient infantile hypertriglyceridemia and hepatosteatosis

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Steatosis of liver (disorder)\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Steatosis of liver (disorder)\Transient infantile hypertriglyceridemia and hepatosteatosis
\Disease\Metabolic disease\Familial hypertriglyceridemia\Transient infantile hypertriglyceridemia and hepatosteatosis

Status: current. Date: 31-Jan 2019

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 Inactive 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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405356016 Transient infantile hypertriglyceridemia and hepatosteatosis is 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405357013 Transient infantile hypertriglyceridaemia and hepatosteatosis is 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Transient infantile hypertriglyceridemia and hepatosteatosis	Is a	Steatosis of liver (disorder)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Transient infantile hypertriglyceridemia and hepatosteatosis	Is a	Familial hypertriglyceridemia	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Transient infantile hypertriglyceridemia and hepatosteatosis	Is a	Autosomal recessive hereditary disorder	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Transient infantile hypertriglyceridemia and hepatosteatosis	Associated morphology	Fatty degeneration	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Transient infantile hypertriglyceridemia and hepatosteatosis	Occurrence	Infancy	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Transient infantile hypertriglyceridemia and hepatosteatosis	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Transient infantile hypertriglyceridemia and hepatosteatosis	Has interpretation	Above reference range	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Transient infantile hypertriglyceridemia and hepatosteatosis	Interprets	Lipids measurement	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Transient infantile hypertriglyceridemia and hepatosteatosis	Clinical course	Transitory	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	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	Inactive	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405356016	Transient infantile hypertriglyceridemia and hepatosteatosis is 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405357013	Transient infantile hypertriglyceridaemia and hepatosteatosis is 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core