Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 357953015 | Kindler's syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2840887018 | Kindler syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5361759011 | Kindler epidermolysis bullosa (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5361760018 | Kindler epidermolysis bullosa | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5361761019 | Poikiloderma of Kindler | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5361762014 | Congenital bullous poikiloderma | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1477851000146113 | syndroom van Kindler | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 2591991000146117 | Kindler-syndroom (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 2592001000146119 | Kindler-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5361763016 | A rare inherited epidermolysis bullosa (EB) with characteristics of skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. Kindler epidermolysis bullosa (KEB) is the fourth major type of EB, after EB simplex, junctional EB, and dystrophic EB. The disease usually manifests at birth with trauma-induced skin blistering that is more prominent on extremities and tends to regress with age, becoming rare in adulthood. Caused by loss-of-function mutations in the kindlin-1 gene (FERMT1; 20p12.3). 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 |
| Kindler epidermolysis bullosa (disorder) | Is a | Hereditary sclerosing poikiloderma | true | Inferred relationship | Some | ||
| Kindler epidermolysis bullosa (disorder) | Is a | Skin lesion | false | Inferred relationship | Some | ||
| Kindler epidermolysis bullosa (disorder) | Associated morphology | Poikiloderma | false | Inferred relationship | Some | 1 | |
| Kindler epidermolysis bullosa (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
| Kindler epidermolysis bullosa (disorder) | Is a | Degenerative disorder | false | Inferred relationship | Some | ||
| Kindler epidermolysis bullosa (disorder) | Is a | Atrophic condition of skin (disorder) | false | Inferred relationship | Some | ||
| Kindler epidermolysis bullosa (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Kindler epidermolysis bullosa (disorder) | Associated morphology | Poikiloderma | true | Inferred relationship | Some | 1 | |
| Kindler epidermolysis bullosa (disorder) | Is a | Epidermolysis bullosa | true | Inferred relationship | Some | ||
| Kindler epidermolysis bullosa (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Kindler epidermolysis bullosa (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Kindler epidermolysis bullosa (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Kindler epidermolysis bullosa (disorder) | Associated morphology | Epidermolysis | true | Inferred relationship | Some | 2 | |
| Kindler epidermolysis bullosa (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR