Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: module van internationale editie (metadata)
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module | Reference Sets |
| 3425082010 | Transient bullous dermolysis of newborn (disorder) | en | volledig gespecificeerde naam (metadata) | Active | gehele beschrijving niet-hoofdlettergevoelig | module van internationale editie (metadata) | Brits-Engelse taalreferentieset: voorkeursterm |
| 3425083017 | Transient bullous dermolysis of newborn | en | synoniem (metadata) | Active | gehele beschrijving niet-hoofdlettergevoelig | module van internationale editie (metadata) | Brits-Engelse taalreferentieset: voorkeursterm |
| 6731231000146119 | transiënte neonatale epidermolysis bullosa dystrophica | nl | synoniem (metadata) | Active | gehele beschrijving niet-hoofdlettergevoelig | SNOMED CT Netherlands NRC maintained module (core metadata concept) | Netherlands Dutch language reference set: acceptabel |
| 6731261000146111 | TBDN | nl | synoniem (metadata) | Active | gehele beschrijving hoofdlettergevoelig | SNOMED CT Netherlands NRC maintained module (core metadata concept) | Netherlands Dutch language reference set: acceptabel |
| 6989691000146119 | passagère epidermolysis bullosa dystrophica bij neonaat (aandoening) | nl | volledig gespecificeerde naam (metadata) | Active | gehele beschrijving niet-hoofdlettergevoelig | SNOMED CT Netherlands NRC maintained module (core metadata concept) | Netherlands Dutch language reference set: voorkeursterm |
| 6989701000146119 | passagère epidermolysis bullosa dystrophica bij neonaat | nl | synoniem (metadata) | Active | gehele beschrijving niet-hoofdlettergevoelig | SNOMED CT Netherlands NRC maintained module (core metadata concept) | Netherlands Dutch language reference set: voorkeursterm |
| 7087541000146114 | voorbijgaande bulleuze dermolyse bij pasgeborene | nl | synoniem (metadata) | Active | gehele beschrijving niet-hoofdlettergevoelig | SNOMED CT Netherlands NRC maintained module (core metadata concept) | Netherlands Dutch language reference set: acceptabel |
| 7087551000146112 | transiënte epidermolysis bullosa dystrophica bij pasgeborene | nl | synoniem (metadata) | Active | gehele beschrijving niet-hoofdlettergevoelig | SNOMED CT Netherlands NRC maintained module (core metadata concept) | Netherlands Dutch language reference set: acceptabel |
| 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 | tekstdefinitie (metadata) | Active | gehele beschrijving hoofdlettergevoelig | module van internationale editie (metadata) | Amerikaans-Engelse taalreferentieset (metadata): voorkeursterm |
| 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 | tekstdefinitie (metadata) | Active | gehele beschrijving hoofdlettergevoelig | module van internationale editie (metadata) | Brits-Engelse taalreferentieset: voorkeursterm |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR