720461006: Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Digestive system finding (finding)\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Acute digestive system disorder\Acute hepatic failure (disorder)\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Acute digestive system disorder\Acute hepatic failure (disorder)\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.
• \Disease\Acute disease\Acute digestive system disorder\Acute hepatic failure (disorder)\A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3320913014	Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320914015	Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402341016	A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402342011	A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320913014	Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320913014	Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320914015	Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320914015	Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320915019	A very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, with clinical characteristics of transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320916018	A very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, with clinical characteristics of transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinaemia, and lactic acidaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402341016	A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402342011	A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3386381001000113	Akutes infantiles Leberversagen durch Synthesedefekt mtDNA-kodierter Proteine	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5926571000241118	insuffisance hépatique infantile aigüe due à un défaut de synthèse protéique codée par l'acide désoxyribonucléique mitochondrial	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5926581000241116	insuffisance hépatique aigüe chez l'enfant due à un défaut de synthèse d'une protéine codée par l'ADN (acide désoxyribonucléique) mitochondrial	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5926571000241118	insuffisance hépatique infantile aigüe due à un défaut de synthèse protéique codée par l'acide désoxyribonucléique mitochondrial	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5926581000241116	insuffisance hépatique aigüe chez l'enfant due à un défaut de synthèse d'une protéine codée par l'ADN (acide désoxyribonucléique) mitochondrial	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3386381001000113	Akutes infantiles Leberversagen durch Synthesedefekt mtDNA-kodierter Proteine	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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Component annotation with string value reference set (foundation metadata concept)

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