Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3755493012 | Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3755494018 | Severe intellectual disability, progressive spastic diplegia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3755495017 | A rare genetic syndromic intellectual disability disorder characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. | en | Definition | Active | Case sensitive | SNOMED CT core |
3755496016 | A rare genetic syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Severe intellectual disability, progressive spastic diplegia syndrome | Is a | Spastic diplegia | true | Inferred relationship | Some | ||
Severe intellectual disability, progressive spastic diplegia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Is a | Severe intellectual disability | true | Inferred relationship | Some | ||
Severe intellectual disability, progressive spastic diplegia syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Severe intellectual disability, progressive spastic diplegia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Finding site | Structure of nervous system | true | Inferred relationship | Some | 2 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Finding site | Limb structure | false | Inferred relationship | Some | 3 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Interprets | Intellectual ability | false | Inferred relationship | Some | 4 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Has interpretation | Impaired | false | Inferred relationship | Some | 4 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Interprets | Adaptation behaviour | false | Inferred relationship | Some | 5 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Has interpretation | Impaired | false | Inferred relationship | Some | 5 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Is a | Neurological disorder | true | Inferred relationship | Some | ||
Severe intellectual disability, progressive spastic diplegia syndrome | Interprets | Movement | true | Inferred relationship | Some | 5 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Has interpretation | Absent | true | Inferred relationship | Some | 4 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Finding site | Skeletal muscle structure of limb | true | Inferred relationship | Some | 3 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Interprets | Muscle tone | true | Inferred relationship | Some | 6 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Has interpretation | Increased | true | Inferred relationship | Some | 6 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 7 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 8 | |
Severe intellectual disability, progressive spastic diplegia syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 8 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set