Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3759300013 | Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759301012 | Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759302017 | Hereditary sensory and autonomic neuropathy type 7 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759303010 | Hereditary sensory and autonomic neuropathy type 7 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759304016 | Hereditary sensory and autonomic neuropathy type VII | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3759305015 | HSAN7- hereditary sensory and autonomic neuropathy type 7 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759306019 | A rare genetic peripheral neuropathy with characteristics of congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhoea and/or constipation. Cognitive development is normal. Caused by heterozygous mutation in the SCN11A gene on chromosome 3p22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759307011 | A rare genetic peripheral neuropathy with characteristics of congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal. Caused by heterozygous mutation in the SCN11A gene on chromosome 3p22. | 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 7 (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy type 7 (disorder) | Is a | Hereditary sensory and autonomic neuropathy | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy type 7 (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| Hereditary sensory and autonomic neuropathy type 7 (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Hereditary sensory and autonomic neuropathy type 7 (disorder) | Finding site | Autonomic nervous system structure | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR