Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3724043012 | Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3724044018 | Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3724045017 | Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Finding site | Structure of Brodmann areas 17 (striate cortex), 18 (parastriate cortex) and 19 (peristriate cortex) of the occipital lobe | true | Inferred relationship | Existential restriction modifier | 2 | |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Is a | Cortical blindness | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Is a | Epileptic encephalopathy | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Finding site | Visual pathway structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Is a | Disorder of visual pathways | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 4 | |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 | |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 5 | |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR