Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3706391012 | COXPD10 - combined oxidative phosphorylation defect type 10 | en | Synonym | Active | Case sensitive | SNOMED CT core |
3706392017 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3706393010 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimisation 1 deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
3706394016 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3706395015 | Combined oxidative phosphorylation defect type 10 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3706396019 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
3706397011 | A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency. The disease has characteristics of lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. Caused by homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | Due to | Mitochondrial cytopathy | true | Inferred relationship | Some | 2 | |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 1 | |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | Finding site | Myocardium structure | true | Inferred relationship | Some | 1 | |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | Is a | Hypertrophic mitochondrial cardiomyopathy | true | Inferred relationship | Some | ||
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | Is a | Congenital cardiovascular disorder | true | Inferred relationship | Some | ||
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | Is a | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | Is a | Deficiency in enzyme complexes of mitochondrial respiratory chain | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set