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 |
| 3313306018 | This syndrome has characteristics of 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 non-consanguineous 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) | survenue (attribut) | congénital | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | est un(e) (attribut) | 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) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | morphologie associée (attribut) | hypertrophie | true | Inferred relationship | Some | 2 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | localisation d'une constatation (attribut) | structure du myocarde | true | Inferred relationship | Some | 2 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Due to | Mitochondrial cytopathy | true | Inferred relationship | Some | 3 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal muscle | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | est un(e) (attribut) | Lactic acidosis | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | est un(e) (attribut) | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | false | Inferred relationship | Some | 3 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | morphologie associée (attribut) | hypertrophie | false | Inferred relationship | Some | 4 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | localisation d'une constatation (attribut) | structure du myocarde | false | Inferred relationship | Some | 4 | |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | est un(e) (attribut) | Congenital cardiovascular disorder (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR