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 |
3322204013 | Multiple mitochondrial dysfunctions syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322205014 | Multiple mitochondrial dysfunctions syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322206010 | MMDS - multiple mitochondrial dysfunctions syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
756581000241113 | syndrome de dysfonctionnements mitochondriaux multiples (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
870161000172117 | syndrome de dysfonctionnements mitochondriaux multiples | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3322207018 | Syndrome caused by impairment of mitochondria. Whilst mitochondrial disorders may be caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. Symptoms begin in early life and affected individuals usually do not live past infancy. Symptoms include encephalopathy, hypotonia, seizures and psychomotor delay. Most affected babies have lactic acidosis that can be life threatening. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Multiple mitochondrial dysfunctions syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Multiple mitochondrial dysfunctions syndrome (disorder) | est un(e) (attribut) | Disorder of mitochondrial respiratory chain complexes | true | Inferred relationship | Some | ||
Multiple mitochondrial dysfunctions syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Multiple mitochondrial dysfunctions syndrome type 1 | est un(e) (attribut) | True | Multiple mitochondrial dysfunctions syndrome (disorder) | Inferred relationship | Some | |
Multiple mitochondrial dysfunctions syndrome type 2 (disorder) | est un(e) (attribut) | True | Multiple mitochondrial dysfunctions syndrome (disorder) | Inferred relationship | Some | |
Multiple mitochondrial dysfunctions syndrome type 3 | est un(e) (attribut) | True | Multiple mitochondrial dysfunctions syndrome (disorder) | Inferred relationship | Some | |
Multiple mitochondrial dysfunctions syndrome type 4 | est un(e) (attribut) | True | Multiple mitochondrial dysfunctions syndrome (disorder) | Inferred relationship | Some |
This concept is not in any reference sets