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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
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FHIR Version n/a
User: [n/a]
Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5449367013 | Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5449368015 | Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5449369011 | MT-ATP6 mitochondrial disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease | Is a | Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) | true | Inferred relationship | Some | ||
| Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease | Is a | Mitochondrial cytopathy | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| A clinically heterogeneous progressive condition characterised by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. | Is a | True | Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease | Inferred relationship | Some | |
| A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. | Is a | True | Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease | Inferred relationship | Some |
This concept is not in any reference sets