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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure\Acute infantile liver failure with multisystemic involvement syndrome
• \Finding of trunk structure\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure\Acute infantile liver failure with multisystemic involvement syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Hepatic failure\Acute hepatic failure\Acute infantile liver failure with multisystemic involvement syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acute infantile liver failure with multisystemic involvement syndrome
• \Disease\Disorder of body system\Disease of liver\Hepatic failure\Acute hepatic failure\Acute infantile liver failure with multisystemic involvement syndrome
• \Disease\Disorder of trunk (disorder)\Disease of liver\Hepatic failure\Acute hepatic failure\Acute infantile liver failure with multisystemic involvement syndrome

Status: current. Date: 31-Jan 2019

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
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
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	Inactive	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405500016	A rare, genetic, parenchymal hepatic disease characterized by 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 hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405501017	A rare, genetic, parenchymal hepatic disease characterised by 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 hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

US English

Congenital syphilitic hepatomegaly

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