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 |
| 3758051015 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 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 (core metadata concept) | SNOMED CT core |
| 3758053017 | Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3758054011 | Autosomal recessive spastic paraplegia type 49 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3758057016 | Hereditary sensory and autonomic neuropathy due to TECPR2 (tectonin beta-propeller repeat containing 2) mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | est un(e) (attribut) | neuropathie héréditaire sensitive et autonomique | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | est un(e) (attribut) | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | localisation d'une constatation (attribut) | moelle spinale (structure corporelle) | true | Inferred relationship | Some | 1 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | localisation d'une constatation (attribut) | structure d'un nerf | true | Inferred relationship | Some | 3 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | morphologie associée (attribut) | dégénérescence | false | Inferred relationship | Some | 1 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | localisation d'une constatation (attribut) | Autonomic nervous system structure | true | Inferred relationship | Some | 5 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | localisation d'une constatation (attribut) | membre inférieur | true | Inferred relationship | Some | 2 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | localisation d'une constatation (attribut) | structure du système nerveux périphérique | true | Inferred relationship | Some | 4 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | est un(e) (attribut) | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR