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 |
| 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 |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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. | Due to | Mitochondrial cytopathy | true | Inferred relationship | Some | 2 | |
| 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. | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 1 | |
| 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. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 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. | Finding site | Myocardium structure | true | Inferred relationship | Some | 1 | |
| 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. | Is a | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| 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. | Is a | Congenital cardiovascular disorder (disorder) | true | Inferred relationship | Some | ||
| 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. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| 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. | Is a | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| 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. | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| 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. | Is a | 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