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773649005: Transient infantile hypertriglyceridemia and hepatosteatosis (disorder)


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


0 descendants.

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 (disorder) 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

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