Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755494018 | Severe intellectual disability, progressive spastic diplegia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 8077831000146118 | syndroom van ernstige verstandelijke beperking en progressieve spastische diplegie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8077841000146114 | syndroom van ernstige verstandelijke beperking en progressieve spastische diplegie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8077851000146112 | syndroom van ernstige verstandelijke handicap en progressieve spastische diplegie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8077861000146110 | syndroom van ernstige mentale retardatie en progressieve spastische diplegie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Is a | Spastic diplegia | true | Inferred relationship | Some | ||
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Is a | Severe intellectual disability (disorder) | true | Inferred relationship | Some | ||
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Finding site | Limb structure | false | Inferred relationship | Some | 3 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Interprets | Intellectual ability (observable entity) | false | Inferred relationship | Some | 4 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Has interpretation | Impaired | false | Inferred relationship | Some | 4 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | false | Inferred relationship | Some | 5 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Has interpretation | Impaired | false | Inferred relationship | Some | 5 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Is a | Disorder of nervous system (disorder) | true | Inferred relationship | Some | ||
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 5 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 4 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Finding site | Skeletal muscle structure of limb (body structure) | true | Inferred relationship | Some | 3 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Interprets | Muscle tone | true | Inferred relationship | Some | 6 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Has interpretation | Increased | true | Inferred relationship | Some | 6 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 7 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 8 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 8 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Is a | Congenital neurological disorder (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR