Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4965412010 | Multiple mitochondrial dysfunctions syndrome type 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4965413017 | MMDS3 - multiple mitochondrial dysfunctions syndrome type 3 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4965414011 | Multiple mitochondrial dysfunctions syndrome type 3 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4965415012 | IBA57 (iron-sulfur cluster assembly factor IBA57) deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4965420012 | A rare neurometabolic disease due to a lipoic acid biosynthesis defect with a highly variable phenotype. Typical characteristics are early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leucoencephalopathy with lesions in the periventricular/central white matter and parieto-occipital lobes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4965421011 | A rare neurometabolic disease due to a lipoic acid biosynthesis defect with a highly variable phenotype. Typical characteristics are early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occipital lobes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 13766311000172119 | multipele-mitochondriale-disfuncties-syndroom type 3 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 13766321000172112 | IBA57-deficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 14262141000172114 | MMDS3 - multipele-mitochondriale-disfuncties-syndroom type 3 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Multiple mitochondrial dysfunctions syndrome type 3 | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Multiple mitochondrial dysfunctions syndrome type 3 | Is a | Multiple mitochondrial dysfunctions syndrome (disorder) | true | Inferred relationship | Some | ||
| Multiple mitochondrial dysfunctions syndrome type 3 | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Multiple mitochondrial dysfunctions syndrome type 3 | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR