Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4673084011 | SPPRS (spastic paraplegia, psychomotor retardation, seizures) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4673085012 | Spastic paraplegia, severe developmental delay, epilepsy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4673086013 | Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4673092019 | A rare genetic complex spastic paraplegia disorder with characteristics of infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
7529431000172114 | syndroom van spastische paraplegie, ernstige ontwikkelingsachterstand en epilepsie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
7529441000172119 | syndroom van spastische paraparese, ernstige ontwikkelingsachterstand en epilepsie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Is a | Chronic mental disorder | false | Inferred relationship | Some | ||
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Is a | Developmental delay | true | Inferred relationship | Some | ||
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Is a | Encephalomyelopathy (disorder) | true | Inferred relationship | Some | ||
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Is a | Epilepsy | true | Inferred relationship | Some | ||
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Finding site | Cerebrum | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Finding site | Spinal cord structure | true | Inferred relationship | Some | 4 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 4 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Finding site | Lower limb structure (body structure) | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 6 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 7 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Interprets | Movement | true | Inferred relationship | Some | 8 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 5 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Interprets | Movement observable | true | Inferred relationship | Some | 10 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 9 | |
Spastic paraplegia, severe developmental delay, epilepsy syndrome | Has interpretation | Absent | true | Inferred relationship | Some | 10 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets