720461006: acuut infantiel leverfalen door synthesedefect van door mitochondriaal deoxyribonucleïnezuur gecodeerd eiwit (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Digestive system finding (finding)\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Acute digestive system disorder\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \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)\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Acute digestive system disorder\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
• \Disease\Acute disease\Acute digestive system disorder\Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)

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
6185361000146118	acuut infantiel leverfalen door synthesedefect van door mitochondriaal deoxyribonucleïnezuur gecodeerd eiwit	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6185371000146112	acuut infantiel leverfalen door synthesedefect van door mitochondrieel desoxyribonucleïnezuur gecodeerd proteïne	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6185381000146114	acuut infantiel leverfalen door synthesedefect van door mtDNA gecodeerd eiwit	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6185391000146111	acuut infantiel leverfalen door synthesedefect van door mitochondriaal deoxyribonucleïnezuur gecodeerd eiwit (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12573811000146114	acuut infantiel leverfalen door synthesedefect van door mitochondriaal DNA gecodeerd eiwit	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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