Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723743011 | Epidermolysis bullosa simplex due to BP230 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723744017 | Epidermolysis bullosa simplex due to BP230 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723747012 | DST (dystonin) related epidermolysis bullosa simplex | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 771541000241110 | epidermolyse bulleuse simple par déficit en BP230 (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 871151000172112 | epidermolyse bulleuse simple par déficit en BP230 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 896621000172112 | EBS-AR BP230 - epidermolyse bulleuse simple par déficit en BP230 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3723742018 | A rare hereditary basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimeters big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723745016 | A rare hereditary basal epidermolysis bullosa simplex characterised by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimetres big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12. | 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 BP230 deficiency (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to BP230 deficiency (disorder) | localisation d'une constatation (attribut) | Connective tissue structure | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to BP230 deficiency (disorder) | est un(e) (attribut) | Epidermolysis bullosa simplex | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to BP230 deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to BP230 deficiency (disorder) | morphologie associée (attribut) | Epidermolysis | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex due to BP230 deficiency (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to BP230 deficiency (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex due to BP230 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex due to BP230 deficiency (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex due to BP230 deficiency (disorder) | est un(e) (attribut) | Autosomal recessive epidermolysis bullosa simplex | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR