Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3758051015 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3758052010 | Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3758053017 | Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3758054011 | Autosomal recessive spastic paraplegia type 49 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3758057016 | Hereditary sensory and autonomic neuropathy due to TECPR2 (tectonin beta-propeller repeat containing 2) mutation | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3758055012 | A rare genetic peripheral neuropathy with characteristics of early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3758056013 | A rare genetic peripheral neuropathy with characteristics of early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastrooesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Is a | Hereditary sensory and autonomic neuropathy | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Finding site | Nerve structure | true | Inferred relationship | Some | 3 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Finding site | Autonomic nervous system structure | true | Inferred relationship | Some | 5 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Finding site | Structure of lower limb | false | Inferred relationship | Some | 2 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 4 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Clinical course | Progressive | true | Inferred relationship | Some | 6 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Interprets | Movement | true | Inferred relationship | Some | 9 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Finding site | Structure of right lower limb | true | Inferred relationship | Some | 2 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Finding site | Structure of left lower limb | true | Inferred relationship | Some | 8 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Interprets | Movement observable | true | Inferred relationship | Some | 7 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Has interpretation | Absent | true | Inferred relationship | Some | 7 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Australian dialect reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set
FHIR