Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
| 3725804019 | Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3725805018 | Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | en | Synonym | Active | Case insensitive | 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Is a | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Is a | Inherited disorder of connective tissue | false | Inferred relationship | Some | ||
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Finding site | Connective tissue structure | false | Inferred relationship | Some | ||
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Associated morphology | Epidermolysis | true | Inferred relationship | Some | 2 | |
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Is a | Congenital anomaly of tooth | false | Inferred relationship | Some | ||
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Is a | Disorder of hard tissues of teeth | false | Inferred relationship | Some | ||
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Is a | Localised junctional epidermolysis bullosa | true | Inferred relationship | Some | ||
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Finding site | Enamel structure | true | Inferred relationship | Some | 1 | |
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Is a | Amelogenesis imperfecta | true | Inferred relationship | Some | ||
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 3 | |
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 4 | |
| Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR