Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3308629011 | Boichis disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308630018 | Nephronophthisis hepatic fibrosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3308636012 | Nephronophthisis hepatic fibrosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3308637015 | Boichis syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308638013 | This syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4627951000172116 | ziekte van Boichis | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4627961000172119 | syndroom van nefronoftise en leverfibrose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Is a | Congenital hepatic fibrosis | true | Inferred relationship | Some | ||
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Is a | Nephronophthisis | true | Inferred relationship | Some | ||
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Associated morphology | Fibrosis | false | Inferred relationship | Some | 3 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Finding site | Liver structure | false | Inferred relationship | Some | 3 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Associated morphology | Fibrocystic change | false | Inferred relationship | Some | 4 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Finding site | Structure of medulla of kidney | false | Inferred relationship | Some | 4 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Is a | Fibrocystic kidney disease | true | Inferred relationship | Some | ||
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Some | ||
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Associated morphology | Fibrocystic change | true | Inferred relationship | Some | 2 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Associated morphology | Fibrosis | true | Inferred relationship | Some | 1 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Finding site | Structure of medulla of kidney | true | Inferred relationship | Some | 2 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Finding site | Liver structure | true | Inferred relationship | Some | 1 | |
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Nephronophthisis hepatic fibrosis syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR