Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3637972012 | Chondroectodermal dysplasia with night blindness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3637973019 | Chondroectodermal dysplasia with night blindness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3657266014 | A rare genetic bone development disorder with characteristics of proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically presents with delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Is a | Chondroectodermal dysplasia (disorder) | true | Inferred relationship | Some | ||
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Is a | Night blindness | true | Inferred relationship | Some | ||
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Finding site | Retinal structure | true | Inferred relationship | Some | 4 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 3 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 1 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 3 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 6 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Finding site | Nail unit structure | true | Inferred relationship | Some | 7 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Finding site | Tooth structure | true | Inferred relationship | Some | 5 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 6 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR