Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4634496013 | Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4634497016 | Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4634498014 | A rare complex hereditary spastic paraplegia with characteristics of neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | est un(e) (attribut) | maladie chronique de l'appareil locomoteur | true | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | est un(e) (attribut) | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | est un(e) (attribut) | Kyphoscoliosis deformity of spine (disorder) | true | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | est un(e) (attribut) | Chronic paraplegia (disorder) | false | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 4 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | localisation d'une constatation (attribut) | moelle spinale (structure corporelle) | true | Inferred relationship | Some | 1 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | localisation d'une constatation (attribut) | membre inférieur | true | Inferred relationship | Some | 3 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | localisation d'une constatation (attribut) | Musculoskeletal structure of spine | true | Inferred relationship | Some | 2 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | morphologie associée (attribut) | Lateral abnormal curvature | true | Inferred relationship | Some | 2 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | est un(e) (attribut) | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | localisation d'une constatation (attribut) | Musculoskeletal structure of spine | true | Inferred relationship | Some | 5 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | morphologie associée (attribut) | Anteroposterior abnormal curvature | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets