Status: current. Date: 31-Jan 2017
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 | Inactive | 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402341016 | A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402342011 | A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder) | Is a | Acute hepatic failure | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder) | Is a | Autosomal recessive hereditary disorder | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder) | Occurrence | Infancy | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 | |
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder) | Finding site | Liver structure | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 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 | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 2 | |
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder) | Due to | Disorder of mitochondrial respiratory chain complexes | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets