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 |
| 3442281010 | Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3442282015 | Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3442283013 | RDEB-O - recessive dystrophic epidermolysis bullosa-generalized other | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3442284019 | RDEB-O - recessive dystrophic epidermolysis bullosa-generalised other | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 12744241000146114 | recessieve epidermolysis bullosa dystrophica non-Hallopeau-Siemens-type (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12744251000146112 | RDEB non-Hallopeau-Siemens-type | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12744261000146110 | recessieve epidermolysis bullosa dystrophica non-Hallopeau-Siemens-type | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3442285018 | A subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalized blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3442286017 | A subtype of dystrophic epidermolysis bullosa characterised by generalised cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalised blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Is a | Recessive dystrophic epidermolysis bullosa | true | Inferred relationship | Some | ||
| Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Is a | Generalized dystrophic epidermolysis bullosa | true | Inferred relationship | Some | ||
| Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Finding site | Connective tissue structure | false | Inferred relationship | Some | ||
| Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Associated morphology | Epidermolysis | false | Inferred relationship | Some | 4 | |
| Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
| Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 5 | |
| Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
| Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Associated morphology | Epidermolysis | true | Inferred relationship | Some | 1 | |
| Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR