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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401622014 | A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401623016 | A rare genetic neurological disorder characterised by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibres of all diameters as well as of unmyelinated axons. | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR