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 |
| 3430563019 | Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3430564013 | Nephrosis, deafness, urinary tract, digital malformation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3430565014 | Braun Bayer syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3430566010 | Syndrome with characteristics of variable anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 2 | |
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 3 | |
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 2 | |
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR