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 |
| 3706391012 | COXPD10 - combined oxidative phosphorylation defect type 10 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706392017 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706393010 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimisation 1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706395015 | Combined oxidative phosphorylation defect type 10 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706396019 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | 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 | morphologie associée (attribut) | hypertrophie | true | Inferred relationship | Some | 1 | |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | localisation d'une constatation (attribut) | structure du myocarde | true | Inferred relationship | Some | 1 | |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | est un(e) (attribut) | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | est un(e) (attribut) | Congenital cardiovascular disorder (disorder) | true | Inferred relationship | Some | ||
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | est un(e) (attribut) | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | est un(e) (attribut) | Deficiency in enzyme complexes of mitochondrial respiratory chain | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR