Status: current. Date: 31-Jul 2018
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3655792019 | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655793012 | Hepatoencephalopathy due to COXPD1 (combined oxidative phosphorylation defect type 1) | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3655794018 | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655795017 | A rare inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis. The disease has characteristics of intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404434010 | A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404435011 | A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterised by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leucodystrophy, delayed myelination and basal ganglia involvement. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Is a | Metabolic and genetic disorder affecting the liver | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Is a | Metabolic encephalopathy | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Is a | Congenital disease | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Is a | Autosomal recessive hereditary disorder | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Occurrence | Congenital | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Finding site | Liver structure | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Occurrence | Congenital | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 2 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Finding site | Brain structure | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 2 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Due to | Disease of liver | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR