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 |
| 1009551000172114 | EBS-AR exophilin 5 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3723750010 | Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723751014 | Epidermolysis bullosa simplex due to exophilin 5 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 771551000241113 | epidermolyse bulleuse simple par déficit en exophiline 5 (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 896411000172116 | epidermolyse bulleuse simple par déficit en exophiline 5 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3723752019 | A rare hereditary basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723753012 | A rare hereditary basal epidermolysis bullosa simplex characterised by mild, generalised trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22. | 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 exophilin 5 deficiency (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) | localisation d'une constatation (attribut) | Connective tissue structure | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) | est un(e) (attribut) | Epidermolysis bullosa simplex | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) | morphologie associée (attribut) | Epidermolysis | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) | est un(e) (attribut) | Autosomal recessive epidermolysis bullosa simplex | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR