Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3791513010 | SPOAN and SPOAN-related disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3791514016 | Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3791515015 | Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3791516019 | A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Autosomal recessive spastic paraplegia type 55 (disorder) | est un(e) (attribut) | True | SPOAN and SPOAN-related disorder | Inferred relationship | Some | |
paraplégie spastique autosomique récessive type 57 | est un(e) (attribut) | True | SPOAN and SPOAN-related disorder | Inferred relationship | Some | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | est un(e) (attribut) | True | SPOAN and SPOAN-related disorder | Inferred relationship | Some | |
Autosomal recessive spastic paraplegia type 74 | est un(e) (attribut) | True | SPOAN and SPOAN-related disorder | Inferred relationship | Some |
This concept is not in any reference sets