Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3307241013 | Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3307242018 | Epidermolysis bullosa simplex due to plakophilin deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3307243011 | McGrath syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3307244017 | Ectodermal dysplasia skin fragility syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 749931000241110 | epidermolyse bulleuse simple par déficit en plakophiline (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 884431000172115 | epidermolyse bulleuse simple par déficit en plakophiline | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 960331000172113 | syndrome de McGrath | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3307245016 | A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3307246015 | A suprabasal subtype of epidermolysis bullosa simplex characterised by generalised superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalised erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. 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 |
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | morphologie associée (attribut) | Epidermolysis | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | est un(e) (attribut) | Autosomal recessive epidermolysis bullosa simplex | true | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | est un(e) (attribut) | Epidermolysis bullosa simplex | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | localisation d'une constatation (attribut) | Connective tissue structure | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 3 | |
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | morphologie associée (attribut) | Epidermolysis | false | Inferred relationship | Some | 4 | |
| Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR