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 |
| 6984421000146115 | syndroom van proximale tubulopathie, diabetes mellitus en cerebellaire ataxie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6984431000146118 | syndroom van proximale tubulopathie, diabetes mellitus en cerebellaire ataxie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained 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 |
| syndroom van proximale tubulopathie, diabetes mellitus en cerebellaire ataxie (aandoening) | Is a | Inborn error of metabolism | false | Inferred relationship | Some | ||
| syndroom van proximale tubulopathie, diabetes mellitus en cerebellaire ataxie (aandoening) | Is a | Renal tubular disorder | false | Inferred relationship | Some | ||
| syndroom van proximale tubulopathie, diabetes mellitus en cerebellaire ataxie (aandoening) | Is a | Mitochondrial cytopathy (disorder) | false | Inferred relationship | Some | ||
| syndroom van proximale tubulopathie, diabetes mellitus en cerebellaire ataxie (aandoening) | Is a | Hereditary nephropathy (disorder) | false | Inferred relationship | Some | ||
| syndroom van proximale tubulopathie, diabetes mellitus en cerebellaire ataxie (aandoening) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| syndroom van proximale tubulopathie, diabetes mellitus en cerebellaire ataxie (aandoening) | Finding site | Renal tubule structure (body structure) | false | Inferred relationship | Some | 1 | |
| syndroom van proximale tubulopathie, diabetes mellitus en cerebellaire ataxie (aandoening) | Is a | Mitochondrial tubulopathy (disorder) | false | Inferred relationship | Some | ||
| syndroom van proximale tubulopathie, diabetes mellitus en cerebellaire ataxie (aandoening) | Is a | Congenital nephropathy (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR