Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3321113016 | Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321114010 | Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321115011 | Feigenbaum Bergeron Richardson syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3321116012 | This syndrome has characteristics of sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3889851000052112 | syndrom med ateroskleros, dövhet, diabetes, epilepsi och nefropati | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Due to | genetiskt syndrom | false | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Diabetes mellitus associated with genetic syndrome | false | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Epilepsy | true | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Atherosclerosis of artery | true | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Finding site | Kidney structure | false | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 5 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Finding site | Structure of endocrine system (body structure) | false | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 6 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Has definitional manifestation | Seizure | false | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Associated morphology | Atherosclerosis | false | Inferred relationship | Some | 7 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Finding site | Arterial structure | false | Inferred relationship | Some | 7 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Congenital vascular disorder (disorder) | false | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Finding site | Kidney structure | false | Inferred relationship | Some | 1 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Associated morphology | Atherosclerosis | false | Inferred relationship | Some | 2 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Finding site | Arterial structure | false | Inferred relationship | Some | 2 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 3 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Due to | Genetic disease | false | Inferred relationship | Some | 4 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 6 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Interprets | Hearing | false | Inferred relationship | Some | 7 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Secondary diabetes mellitus | true | Inferred relationship | Some | ||
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Finding site | Kidney structure | true | Inferred relationship | Some | 4 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 2 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Finding site | Arterial structure | true | Inferred relationship | Some | 1 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Associated morphology | Atherosclerosis | true | Inferred relationship | Some | 1 | |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Is a | Metabolic renal disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets