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 |
| 5448007012 | Gitelman-like kidney tubulopathy due to mitochondrial deoxyribonucleic acid mutation (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5448008019 | Gitelman-like kidney tubulopathy due to mtDNA (mitochondrial deoxyribonucleic acid) mutation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5448009010 | Gitelman-like kidney tubulopathy due to mitochondrial deoxyribonucleic acid mutation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5448010017 | Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5448011018 | A rare genetic renal tubular disease characterised by hypomagnesaemia (due to renal magnesium wasting), hypokalaemia and activation of renin production due to specific mitochondrial DNA mutations. Hypocalciuria, metabolic alkalosis, progressive chronic kidney disease as well as arterial hypertension and hypercholesterolaemia have been reported. Tetany, tremor, paraesthesia, muscle fatigue, chondrocalcinosis and cerebral seizures can be present. Extrarenal manifestations of mitochondrial dysfunction may not be evident in the patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5448012013 | A rare genetic renal tubular disease characterized by hypomagnesemia (due to renal magnesium wasting), hypokalemia and activation of renin production due to specific mitochondrial DNA mutations. Hypocalciuria, metabolic alkalosis, progressive chronic kidney disease as well as arterial hypertension and hypercholesterolemia have been reported. Tetany, tremor, paresthesia, muscle fatigue, chondrocalcinosis and cerebral seizures can be present. Extrarenal manifestations of mitochondrial dysfunction may not be evident in the patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Gitelman-like kidney tubulopathy due to mitochondrial deoxyribonucleic acid mutation (disorder) | Is a | Metabolic renal disease | true | Inferred relationship | Some | ||
| Gitelman-like kidney tubulopathy due to mitochondrial deoxyribonucleic acid mutation (disorder) | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Gitelman-like kidney tubulopathy due to mitochondrial deoxyribonucleic acid mutation (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Gitelman-like kidney tubulopathy due to mitochondrial deoxyribonucleic acid mutation (disorder) | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
| Gitelman-like kidney tubulopathy due to mitochondrial deoxyribonucleic acid mutation (disorder) | Is a | Renal tubular disorder | true | Inferred relationship | Some | ||
| Gitelman-like kidney tubulopathy due to mitochondrial deoxyribonucleic acid mutation (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Gitelman-like kidney tubulopathy due to mitochondrial deoxyribonucleic acid mutation (disorder) | Finding site | Renal tubule structure (body structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR