717053007: Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)

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

\Viscus structure finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)

\Finding of trunk structure\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of mitochondrial respiratory chain complexes\Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of mitochondrial respiratory chain complexes\Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)
\Disease\Disorder of body system\Disease of liver\Metabolic and genetic disorder affecting the liver\Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)
\Disease\Disorder of body system\Metabolic encephalopathy\Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of mitochondrial respiratory chain complexes\Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)
\Disease\Metabolic disease\Mitochondrial cytopathy\Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)
\Disease\Metabolic disease\Metabolic encephalopathy\Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)

Status: current. Date: 31-Jul 2016

Descriptions:

Id Description Lang Type Status Case? Module

3308301017 Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308302012 Renal tubulopathy with encephalopathy and liver failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308303019 Describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. The prevalence is unknown, several cases have been described, presentation is variable. Most of the characteristics of GRACILE syndrome are present but they are often less severe. Signs of disturbances in iron metabolism have been described. Most infants die during the neonatal period. In those who survive, encephalopathy and psychiatric disorders have been described. This disease is due to different mutations in the BCS1L gene (2q35) encoding a protein essential in the assembly of complex III in the mitochondrial respiratory chain. Inherited autosomal recessively. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5401479013 Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. 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
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)	Is a	Metabolic and genetic disorder affecting the liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)	Is a	Disorder of mitochondrial respiratory chain complexes	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)	Is a	Mitochondrial cytopathy	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)	Is a	Metabolic encephalopathy	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)	Finding site	Brain structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)	Finding site	Renal tubule structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	4

Inbound Relationships

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Active

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Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3308301017	Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308302012	Renal tubulopathy with encephalopathy and liver failure syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308303019	Describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. The prevalence is unknown, several cases have been described, presentation is variable. Most of the characteristics of GRACILE syndrome are present but they are often less severe. Signs of disturbances in iron metabolism have been described. Most infants die during the neonatal period. In those who survive, encephalopathy and psychiatric disorders have been described. This disease is due to different mutations in the BCS1L gene (2q35) encoding a protein essential in the assembly of complex III in the mitochondrial respiratory chain. Inherited autosomal recessively.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401479013	Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core