Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3313307010 | Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313308017 | Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401823018 | Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401824012 | Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Due to | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | 3 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Is a | Congenital anomaly of skeletal muscle | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Is a | Lactic acidosis | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Is a | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 3 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Associated morphology | Hypertrophy | false | Inferred relationship | Some | 4 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Finding site | Myocardium structure | false | Inferred relationship | Some | 4 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Is a | Congenital cardiovascular disorder (disorder) | false | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Is a | Congenital anomaly of myocardium | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 2 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Finding site | Myocardium structure | true | Inferred relationship | Some | 2 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Is a | Secondary myopathy | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR