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 |
| 751621000241116 | neuropathie héréditaire sensitive et autonomique avec surdité et retard de développement (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 876301000172118 | NHSA avec surdité et retard de dévelopement | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 982101000172119 | neuropathie héréditaire sensitive et autonomique avec surdité et retard de développement | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3323650013 | This syndrome has characteristics of sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. It has been described in four individuals from a consanguineous Lebanese family. Onset occurred in infancy with moderate developmental delay, hypotonia and areflexia. Other less constant findings included weakness, variable dysmorphic features, unsteadiness, and optic atrophy. Transmission appears 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 deafness and global delay (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | est un(e) (attribut) | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 4 | |
| Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 5 | |
| Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | est un(e) (attribut) | neuropathie héréditaire sensitive et autonomique | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | localisation d'une constatation (attribut) | structure d'un nerf | true | Inferred relationship | Some | 1 | |
| Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | localisation d'une constatation (attribut) | structure du système nerveux périphérique | true | Inferred relationship | Some | 2 | |
| Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) | localisation d'une constatation (attribut) | Autonomic nervous system structure | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR