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 |
| 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) | est un(e) (attribut) | Spastic diplegia | true | Inferred relationship | Some | ||
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | est un(e) (attribut) | déficience intellectuelle grave (trouble) | true | Inferred relationship | Some | ||
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | est un(e) (attribut) | 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) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 2 | |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un membre | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR