Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5234055017 | Hereditary sensory and autonomic neuropathy type 6 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5234056016 | Familial dysautonomia with contractures | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5234057013 | Hereditary sensory and autonomic neuropathy type VI | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5234058015 | Hereditary sensory and autonomic neuropathy type 6 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5234059011 | HSAN6 - hereditary sensory and autonomic neuropathy type 6 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400712017 | A rare hereditary sensory and autonomic neuropathy characterized by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes, and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhea, pupillary abnormalities, or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable, with severe cases being potentially lethal in infancy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400713010 | A rare hereditary sensory and autonomic neuropathy characterised by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes, and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhoea, pupillary abnormalities, or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable, with severe cases being potentially lethal in infancy. | 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 type 6 (disorder) | Is a | Hereditary sensory and autonomic neuropathy | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy type 6 (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy type 6 (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| Hereditary sensory and autonomic neuropathy type 6 (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Hereditary sensory and autonomic neuropathy type 6 (disorder) | Finding site | Autonomic nervous system structure | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR