Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4670313019 | Autosomal recessive spastic paraplegia type 74 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4670314013 | Autosomal recessive spastic paraplegia type 74 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5399584018 | Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5399585017 | Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterised by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive spastic paraplegia type 74 | Is a | SPOAN and SPOAN-related disorder | true | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 74 | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 74 | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 74 | Finding site | Optic nerve structure | true | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 74 | Associated morphology | Primary atrophy | true | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 74 | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 74 | Finding site | Spinal cord structure | true | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 74 | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 74 | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Autosomal recessive spastic paraplegia type 74 | Finding site | Lower limb structure | false | Inferred relationship | Some | 4 | |
Autosomal recessive spastic paraplegia type 74 | Interprets | Movement | true | Inferred relationship | Some | 5 | |
Autosomal recessive spastic paraplegia type 74 | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 6 | |
Autosomal recessive spastic paraplegia type 74 | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 7 | |
Autosomal recessive spastic paraplegia type 74 | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
Autosomal recessive spastic paraplegia type 74 | Has interpretation | Absent | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)