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 |
| 3425082010 | Transient bullous dermolysis of newborn (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425083017 | Transient bullous dermolysis of newborn | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6731231000146119 | transiënte neonatale epidermolysis bullosa dystrophica | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6731261000146111 | TBDN | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6989691000146119 | passagère epidermolysis bullosa dystrophica bij neonaat (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6989701000146119 | passagère epidermolysis bullosa dystrophica bij neonaat | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7087541000146114 | voorbijgaande bulleuze dermolyse bij pasgeborene | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7087551000146112 | transiënte epidermolysis bullosa dystrophica bij pasgeborene | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3425084011 | A rare subtype of dystrophic epidermolysis bullosa characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. Less than 30 cases have been reported to date. The disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Disease activity usually ceases within the first 6 to 24 months of life. However, nail dystrophy and some degree of skin fragility can persist in adulthood. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. The condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425085012 | A rare subtype of dystrophic epidermolysis bullosa characterised by generalised blistering at birth that usually regresses within the first 6 to 24 months of life. Less than 30 cases have been reported to date. The disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Disease activity usually ceases within the first 6 to 24 months of life. However, nail dystrophy and some degree of skin fragility can persist in adulthood. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. The condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Transient bullous dermolysis of newborn (disorder) | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Transient bullous dermolysis of newborn (disorder) | Is a | Neonatal disorder | false | Inferred relationship | Some | ||
| Transient bullous dermolysis of newborn (disorder) | Is a | Acute skin disorder | true | Inferred relationship | Some | ||
| Transient bullous dermolysis of newborn (disorder) | Is a | Acute metabolic disorder | false | Inferred relationship | Some | ||
| Transient bullous dermolysis of newborn (disorder) | Is a | Generalized dystrophic epidermolysis bullosa | true | Inferred relationship | Some | ||
| Transient bullous dermolysis of newborn (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Transient bullous dermolysis of newborn (disorder) | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Transient bullous dermolysis of newborn (disorder) | Finding site | Connective tissue structure | false | Inferred relationship | Some | ||
| Transient bullous dermolysis of newborn (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
| Transient bullous dermolysis of newborn (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
| Transient bullous dermolysis of newborn (disorder) | Associated morphology | Epidermolysis | false | Inferred relationship | Some | 4 | |
| Transient bullous dermolysis of newborn (disorder) | Occurrence | Neonatal | false | Inferred relationship | Some | 4 | |
| Transient bullous dermolysis of newborn (disorder) | Clinical course | Transitory | false | Inferred relationship | Some | 4 | |
| Transient bullous dermolysis of newborn (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 5 | |
| Transient bullous dermolysis of newborn (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Transient bullous dermolysis of newborn (disorder) | Is a | Neonatal metabolic disorder (disorder) | false | Inferred relationship | Some | ||
| Transient bullous dermolysis of newborn (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Transient bullous dermolysis of newborn (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Transient bullous dermolysis of newborn (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Transient bullous dermolysis of newborn (disorder) | Associated morphology | Epidermolysis | false | Inferred relationship | Some | 1 | |
| Transient bullous dermolysis of newborn (disorder) | Clinical course | Transitory | false | Inferred relationship | Some | 1 | |
| Transient bullous dermolysis of newborn (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Transient bullous dermolysis of newborn (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
| Transient bullous dermolysis of newborn (disorder) | Associated morphology | Epidermolysis | true | Inferred relationship | Some | 2 | |
| Transient bullous dermolysis of newborn (disorder) | Occurrence | Neonatal | false | Inferred relationship | Some | 1 | |
| Transient bullous dermolysis of newborn (disorder) | Is a | Neonatal dermatosis (disorder) | false | Inferred relationship | Some | ||
| Transient bullous dermolysis of newborn (disorder) | Clinical course | Transitory | true | Inferred relationship | Some | 3 | |
| Transient bullous dermolysis of newborn (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR