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 |
| 3706572013 | Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706573015 | Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706574014 | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706575010 | Combined oxidative phosphorylation defect type 16 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706576011 | A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency and characteristics of hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-ophthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. Caused by homozygous mutation in the MRPL44 gene on chromosome 2. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4215971000052117 | infantil hypertrofisk kardiomyopati orsakad av brist på mitokondriellt ribosomalt protein L44 | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) | Is a | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) | Due to | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | 2 | |
| Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) | Finding site | Myocardium structure | true | Inferred relationship | Some | 1 | |
| Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 1 | |
| Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR