Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3323651012 | Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323652017 | Hereditary sensory and autonomic neuropathy with spastic paraplegia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323653010 | HSAN (hereditary sensory and autonomic neuropathy) with spastic paraplegia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323654016 | Syndrome with the association of an axonal sensory and autonomic neuropathy and spastic paraplegia. So far, around nine families have been described in the literature, together with a few sporadic cases. Onset occurs between 1 and 5 years of age with spasticity and progressive severe loss of temperature and pain sensation associated with ulcero-mutilating acropathy. Linkage to chromosome 5q15.31-14.1 was identified in a consanguineous Moroccan family with an autosomal recessive mode of inheritance. Early reports suggested autosomal dominant inheritance but transmission in more recently described families appeared to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Is a | Hereditary sensory and autonomic neuropathy | true | Inferred relationship | Some | ||
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 5 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 4 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | ||
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Finding site | Autonomic nervous system structure | true | Inferred relationship | Some | 3 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 6 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 6 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 6 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 1 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Associated morphology | Degenerative abnormality | false | Inferred relationship | Some | 1 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 6 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 1 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 2 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Interprets | Movement | true | Inferred relationship | Some | 9 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 1 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 8 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 7 | |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets