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 |
| 3332049010 | Dyschondrosteosis and nephritis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332050010 | Dyschondrosteosis and nephritis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332051014 | The association of short stature due to mesomelic shortening of the limbs and Madelung deformity with hereditary nephritis. The syndrome was originally described in male and female members from four generations of one large kindred. The females appeared to be more severely affected than the males, with a sex ratio (female to male) of 4:1. The skeletal anomalies closely resembled those of Leri-Weill dyschondrosteosis. The mode of transmission was reported as autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Dyschondrosteosis and nephritis syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Dyschondrosteosis and nephritis syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Dyschondrosteosis and nephritis syndrome (disorder) | Is a | Mesomelic dysplasia | true | Inferred relationship | Some | ||
| Dyschondrosteosis and nephritis syndrome (disorder) | Is a | Congenital nephritis | true | Inferred relationship | Some | ||
| Dyschondrosteosis and nephritis syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Dyschondrosteosis and nephritis syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Dyschondrosteosis and nephritis syndrome (disorder) | Is a | Hereditary nephritis (disorder) | true | Inferred relationship | Some | ||
| Dyschondrosteosis and nephritis syndrome (disorder) | Associated morphology | Chronic inflammation | false | Inferred relationship | Some | 3 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Finding site | Glomerulus structure | false | Inferred relationship | Some | 3 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 2 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Associated morphology | Chronic inflammation | false | Inferred relationship | Some | 1 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Some | ||
| Dyschondrosteosis and nephritis syndrome (disorder) | Finding site | Glomerulus structure | true | Inferred relationship | Some | 1 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Is a | Chronic glomerulonephritis | false | Inferred relationship | Some | ||
| Dyschondrosteosis and nephritis syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
| Dyschondrosteosis and nephritis syndrome (disorder) | Clinical course | Progressive (qualifier value) | false | Inferred relationship | Some | 3 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Dyschondrosteosis and nephritis syndrome (disorder) | Interprets | Height / growth measure | false | Inferred relationship | Some | 4 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Interprets | Limb length | true | Inferred relationship | Some | 3 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Is a | Madelung's deformity | true | Inferred relationship | Some | ||
| Dyschondrosteosis and nephritis syndrome (disorder) | Finding site | Bone structure of radius (body structure) | true | Inferred relationship | Some | 4 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 4 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Finding site | Joint structure of wrist region (body structure) | true | Inferred relationship | Some | 2 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Finding site | Bone structure of distal ulna | true | Inferred relationship | Some | 5 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 5 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Dyschondrosteosis and nephritis syndrome (disorder) | Associated morphology | Chronic inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR