Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3481737015 | Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3481738013 | Nephropathy, deafness, hyperparathyroidism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3481739017 | Edwards Patton Dilly syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403223016 | A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403224010 | A rare syndromic deafness characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Is a | Parathyroid hyperplasia | true | Inferred relationship | Some | ||
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 3 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Has definitional manifestation | Increased hormone secretion | false | Inferred relationship | Some | ||
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Interprets | Functional observable | false | Inferred relationship | Some | ||
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Associated morphology | Hyperplasia | false | Inferred relationship | Some | 5 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Finding site | Parathyroid structure | false | Inferred relationship | Some | 5 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Has interpretation | Increased | true | Inferred relationship | Some | 2 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Interprets | Hormone secretion | true | Inferred relationship | Some | 2 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Is a | Endocrine finding | false | Inferred relationship | Some | ||
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Associated morphology | Hyperplasia | true | Inferred relationship | Some | 1 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Finding site | Parathyroid structure | true | Inferred relationship | Some | 1 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Is a | Renal failure syndrome | true | Inferred relationship | Some | ||
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Has interpretation | Impaired | false | Inferred relationship | Some | 5 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Finding site | Kidney structure | true | Inferred relationship | Some | 6 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Interprets | Measurement of renal function | false | Inferred relationship | Some | 5 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Interprets | Renal function | true | Inferred relationship | Some | 7 | |
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)