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 |
3725802015 | Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725804019 | Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725805018 | Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725801010 | A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3725803013 | A rare junctional epidermolysis bullosa subtype characterised by late-onset blistering surrounded by erythema and localised on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3725802015 | Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725804019 | Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725805018 | Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725801010 | A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3725803013 | A rare junctional epidermolysis bullosa subtype characterised by late-onset blistering surrounded by erythema and localised on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3447221001000119 | Spät-einsetzende lokalisierte junktionale Epidermolysis bullosa-Intelligenzminderung-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
954841000172112 | syndrome d'épidermolyse bulleuse jonctionnelle localisée à début tardif-déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
954841000172112 | syndrome d'épidermolyse bulleuse jonctionnelle localisée à début tardif-déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3447221001000119 | Spät-einsetzende lokalisierte junktionale Epidermolysis bullosa-Intelligenzminderung-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets