774207004: Acute infantile liver failure with multisystemic involvement syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \Digestive system finding (finding)\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Acute digestive system disorder\Acute hepatic failure\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \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\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \Finding of trunk structure (finding)\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\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \Finding of trunk structure (finding)\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\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \Finding of trunk structure (finding)\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\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Acute digestive system disorder\Acute hepatic failure\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \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\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \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\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
• \Disease\Any disease of sudden onset AND/OR short duration\Acute digestive system disorder\Acute hepatic failure\A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.

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
3728353011	A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728354017	A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728351013	Acute infantile liver failure with multisystemic involvement syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728352018	Acute infantile liver failure with multisystemic involvement syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start