Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3728351013 | Acute infantile liver failure with multisystemic involvement syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3728352018 | Acute infantile liver failure with multisystemic involvement syndrome (disorder) | en | Fully specified name | Active | Case insensitive | 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 | Active | Case sensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Acute infantile liver failure with multisystemic involvement syndrome | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Acute infantile liver failure with multisystemic involvement syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Acute infantile liver failure with multisystemic involvement syndrome | Is a | Acute digestive system disorder | true | Inferred relationship | Some | ||
Acute infantile liver failure with multisystemic involvement syndrome | Finding site | Structure of parenchyma of liver | true | Inferred relationship | Some | 1 | |
Acute infantile liver failure with multisystemic involvement syndrome | Clinical course | Acute | true | Inferred relationship | Some | 2 | |
Acute infantile liver failure with multisystemic involvement syndrome | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
Acute infantile liver failure with multisystemic involvement syndrome | Is a | Acute hepatic failure | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set