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 |
4673878014 | Cataracts, motor neuropathy, short stature, skeletal anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4673879018 | Autosomal dominant spastic paraplegia type 9A | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
4673882011 | Autosomal dominant spastic paraplegia type 9A (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
4674026017 | Spastic paraparesis, amyotrophy, cataracts, gastroesophageal reflux syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4674027014 | Spastic paraparesis, amyotrophy, cataracts, gastro-oesophageal reflux syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4673883018 | A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus and occasionally short stature among others. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4673884012 | A rare complex hereditary spastic paraplegia characterised by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastro-oesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus and occasionally short stature among others. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal dominant spastic paraplegia type 9A | est un(e) (attribut) | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 9A | est un(e) (attribut) | Autosomal dominant hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 9A | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 | |
Autosomal dominant spastic paraplegia type 9A | localisation d'une constatation (attribut) | membre inférieur | true | Inferred relationship | Some | 3 | |
Autosomal dominant spastic paraplegia type 9A | localisation d'une constatation (attribut) | moelle spinale (structure corporelle) | true | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 9A | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets