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 |
5341731000052114 | syndrom med kyfoskolios, lateral tungatrofi och ärftlig spastisk paraplegi | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Is a | Chronic disease of musculoskeletal system | true | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Is a | Kyphoscoliosis deformity of spine (disorder) | true | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Is a | Chronic paraplegia (disorder) | false | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Associated morphology | Degenerative abnormality (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Finding site | Lower limb structure | false | Inferred relationship | Some | 3 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Finding site | Musculoskeletal structure of spine | true | Inferred relationship | Some | 2 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Associated morphology | Lateral abnormal curvature | true | Inferred relationship | Some | 2 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Finding site | Musculoskeletal structure of spine | true | Inferred relationship | Some | 5 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Associated morphology | Anteroposterior abnormal curvature (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Interprets | Movement | true | Inferred relationship | Some | 7 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 3 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 6 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Interprets | Movement observable | true | Inferred relationship | Some | 8 | |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Has interpretation | Absent | true | Inferred relationship | Some | 8 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets