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 |
| 3432831012 | Junctional epidermolysis bullosa non-Herlitz type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3432832017 | Junctional epidermolysis bullosa non-Herlitz type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3432833010 | A subtype of junctional epidermolysis bullosa (JEB) with characteristics of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. Postinflammatory hypopigmentation or dyspigmentation may be striking in some patients. A generalized subtype with atrophic scarring and more extensive extracutaneous involvement has been described as well as a milder localized subtype. Caused by mutations in the COL17A1 (10q24.3) and LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31) genes. The condition follows an autosomal recessive pattern of inheritance. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3432834016 | A subtype of junctional epidermolysis bullosa (JEB) with characteristics of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. Postinflammatory hypopigmentation or dyspigmentation may be striking in some patients. A generalised subtype with atrophic scarring and more extensive extracutaneous involvement has been described as well as a milder localised subtype. Caused by mutations in the COL17A1 (10q24.3) and LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31) genes. The condition follows an autosomal recessive pattern of inheritance. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 958311000172112 | EBJ-nH - epidermolyse bulleuse jonctionnelle type non-Herlitz | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 996761000172119 | epidermolyse bulleuse jonctionnelle type non-Herlitz | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 1006191000172119 | junctionele epidermolysis bullosa, niet-Herlitz-type | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Is a | Junctional epidermolysis bullosa (disorder) | true | Inferred relationship | Some | ||
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Finding site | Connective tissue structure | false | Inferred relationship | Some | ||
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Associated morphology | Epidermolysis | false | Inferred relationship | Some | 3 | |
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Associated morphology | Epidermolysis | true | Inferred relationship | Some | 1 | |
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Junctional epidermolysis bullosa non-Herlitz type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Junctional epidermolysis bullosa mitis (disorder) | Is a | True | Junctional epidermolysis bullosa non-Herlitz type (disorder) | Inferred relationship | Some | |
| Localised non-Herlitz junctional epidermolysis bullosa | Is a | True | Junctional epidermolysis bullosa non-Herlitz type (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR