Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3758051015 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3758052010 | Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3758053017 | Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3758054011 | Autosomal recessive spastic paraplegia type 49 | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3758057016 | Hereditary sensory and autonomic neuropathy due to TECPR2 (tectonin beta-propeller repeat containing 2) mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Is a | Hereditary sensory and autonomic neuropathy | true | Inferred relationship | Existential restriction modifier | ||
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 2 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Existential restriction modifier | ||
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 1 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Finding site | Spinal cord structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Finding site | Nerve structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Associated morphology | Degeneration | false | Inferred relationship | Existential restriction modifier | 1 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Finding site | Autonomic nervous system structure | true | Inferred relationship | Existential restriction modifier | 5 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Finding site | Lower limb structure | false | Inferred relationship | Existential restriction modifier | 2 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Finding site | Peripheral nervous system structure | true | Inferred relationship | Existential restriction modifier | 4 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Associated morphology | Degenerative abnormality | true | Inferred relationship | Existential restriction modifier | 1 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Existential restriction modifier | ||
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Clinical course | Progressive | true | Inferred relationship | Existential restriction modifier | 6 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Interprets | Movement | true | Inferred relationship | Existential restriction modifier | 9 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Finding site | Structure of right lower limb | true | Inferred relationship | Existential restriction modifier | 2 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Finding site | Structure of left lower limb | true | Inferred relationship | Existential restriction modifier | 8 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Interprets | Movement observable | true | Inferred relationship | Existential restriction modifier | 7 | |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Has interpretation | Absent | true | Inferred relationship | Existential restriction modifier | 7 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR