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)\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)\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)\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)\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)\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)\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)\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

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

11237651000172119 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) Belgian module (core metadata concept)

11237661000172117 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 Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5145291000172116 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) Belgian module (core metadata concept)

5145301000172115 acuut infantiel leverfalen door synthesedefect van door mtDNA gecodeerd eiwit nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5145311000172117 acuut infantiel leverfalen door synthesedefect van door mitochondriaal deoxyribonucleïnezuur gecodeerd eiwit nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5145321000172110 acuut infantiel leverfalen door synthesedefect van door mitochondrieel desoxyribonucleïnezuur gecodeerd proteïne nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	Due to	Disorder of mitochondrial respiratory chain complexes	true	Inferred relationship	Some	3
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	Is a	Acute digestive system disorder	true	Inferred relationship	Some
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	Is a	Acute hepatic failure (disorder)	true	Inferred relationship	Some
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	Occurrence	Infancy	false	Inferred relationship	Some	2
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	Clinical course	Sudden onset AND/OR short duration (qualifier value)	false	Inferred relationship	Some	2
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	Finding site	Liver structure	false	Inferred relationship	Some	2
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	Finding site	Liver structure	true	Inferred relationship	Some	1
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	Clinical course	Sudden onset AND/OR short duration (qualifier value)	true	Inferred relationship	Some	2
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	Occurrence	Infancy	true	Inferred relationship	Some	1

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
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
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
11237651000172119	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)	Belgian module (core metadata concept)
11237661000172117	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	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5145291000172116	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)	Belgian module (core metadata concept)
5145301000172115	acuut infantiel leverfalen door synthesedefect van door mtDNA gecodeerd eiwit	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5145311000172117	acuut infantiel leverfalen door synthesedefect van door mitochondriaal deoxyribonucleïnezuur gecodeerd eiwit	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5145321000172110	acuut infantiel leverfalen door synthesedefect van door mitochondrieel desoxyribonucleïnezuur gecodeerd proteïne	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)