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 |
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 | 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 |
881191000172111 | syndrome d'insuffisance hépatique aigüe infantile-manifestations multisystémiques | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Acute infantile liver failure with multisystemic involvement syndrome | Is a | Digestive system hereditary disorder (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 | Sudden onset AND/OR short duration (qualifier value) | 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 (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets