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 |
3323647010 | Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323648017 | Hereditary sensory and autonomic neuropathy with deafness and global delay | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323649013 | HSAN (hereditary sensory and autonomic neuropathy) with deafness and global delay | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401620018 | This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401621019 | This syndrome is characterised by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. | 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 deafness and global delay (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | Is a | Hereditary sensory and autonomic neuropathy | true | Inferred relationship | Some | ||
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | Finding site | Autonomic nervous system structure | true | Inferred relationship | Some | 3 | |
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)