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 |
5402389013 | A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402390016 | A rare, severe, circulatory system disease characterised by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) | Due to | Genetic syndrome | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)