Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3736421018 | Severe intellectual disability and progressive spastic paraplegia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3736422013 | Severe intellectual disability and progressive spastic paraplegia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3736423015 | AP4 deficiency syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3736424014 | A rare complex spastic paraplegia with characteristics of early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory and some develop seizures and stereotypic laughter. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
943131000172114 | déficience intellectuelle sévère et paraplégie spastique progressive | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
995721000172118 | paraplégie spastique autosomique récessive type 47 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
882001000172111 | ernstige intellectuele achterstand en progressieve spastische paraplegie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
952881000172114 | AP4-deficiëntiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Severe intellectual disability and progressive spastic paraplegia | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Severe intellectual disability and progressive spastic paraplegia | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Severe intellectual disability and progressive spastic paraplegia | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Severe intellectual disability and progressive spastic paraplegia | Is a | Severe intellectual disability (disorder) | true | Inferred relationship | Some | ||
Severe intellectual disability and progressive spastic paraplegia | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Severe intellectual disability and progressive spastic paraplegia | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Severe intellectual disability and progressive spastic paraplegia | Finding site | Lower limb structure (body structure) | false | Inferred relationship | Some | 2 | |
Severe intellectual disability and progressive spastic paraplegia | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Severe intellectual disability and progressive spastic paraplegia | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Severe intellectual disability and progressive spastic paraplegia | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Severe intellectual disability and progressive spastic paraplegia | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Severe intellectual disability and progressive spastic paraplegia | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Severe intellectual disability and progressive spastic paraplegia | Is a | Chronic mental disorder | false | Inferred relationship | Some | ||
Severe intellectual disability and progressive spastic paraplegia | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
Severe intellectual disability and progressive spastic paraplegia | Interprets | Intellectual ability (observable entity) | false | Inferred relationship | Some | 5 | |
Severe intellectual disability and progressive spastic paraplegia | Has interpretation | Impaired | false | Inferred relationship | Some | 5 | |
Severe intellectual disability and progressive spastic paraplegia | Interprets | Adaptation behavior (observable entity) | false | Inferred relationship | Some | 6 | |
Severe intellectual disability and progressive spastic paraplegia | Has interpretation | Impaired | false | Inferred relationship | Some | 6 | |
Severe intellectual disability and progressive spastic paraplegia | Interprets | Movement | true | Inferred relationship | Some | 7 | |
Severe intellectual disability and progressive spastic paraplegia | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 2 | |
Severe intellectual disability and progressive spastic paraplegia | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 6 | |
Severe intellectual disability and progressive spastic paraplegia | Interprets | Movement observable | true | Inferred relationship | Some | 5 | |
Severe intellectual disability and progressive spastic paraplegia | Has interpretation | Absent | true | Inferred relationship | Some | 5 | |
Severe intellectual disability and progressive spastic paraplegia | Has interpretation | Impaired | true | Inferred relationship | Some | 8 | |
Severe intellectual disability and progressive spastic paraplegia | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 9 | |
Severe intellectual disability and progressive spastic paraplegia | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 8 | |
Severe intellectual disability and progressive spastic paraplegia | Has interpretation | Impaired | true | Inferred relationship | Some | 9 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets