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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Finding site | Connective tissue structure | false | Inferred relationship | Some | ||
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Associated morphology | Epidermolysis | true | Inferred relationship | Some | 2 | |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Is a | Congenital anomaly of tooth (disorder) | false | Inferred relationship | Some | ||
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Is a | Disorder of hard tissues of teeth (disorder) | false | Inferred relationship | Some | ||
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Is a | Localised junctional epidermolysis bullosa | true | Inferred relationship | Some | ||
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Finding site | Enamel structure | true | Inferred relationship | Some | 1 | |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Is a | Amelogenesis imperfecta (disorder) | true | Inferred relationship | Some | ||
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR