Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3429696013 | Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3429697016 | Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 797761000241115 | syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 957741000172113 | syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3429698014 | Syndrome with characteristics of the onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. It has been described in two sisters. Their mother had ptosis, muscle weakness and ophthalmoplegia, and southern blot analysis revealed heteroplasmic partial duplication of the mitochondrial DNA. Maternal inheritance of this partial duplication was suggested as the cause of the disease in the two sisters. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome (disorder) | est un(e) (attribut) | Inborn error of metabolism | false | Inferred relationship | Some | ||
| Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome (disorder) | est un(e) (attribut) | Renal tubular disorder | false | Inferred relationship | Some | ||
| Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome (disorder) | est un(e) (attribut) | Mitochondrial cytopathy | false | Inferred relationship | Some | ||
| Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome (disorder) | est un(e) (attribut) | Hereditary nephropathy (disorder) | false | Inferred relationship | Some | ||
| Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome (disorder) | localisation d'une constatation (attribut) | Renal tubule structure | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR