Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3311452015 | Peripheral resistance to thyroid hormone (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3311453013 | Peripheral resistance to thyroid hormone | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
6067481000146116 | perifere resistentie tegen schildklierhormoon | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6067491000146119 | perifere resistentie tegen schildklierhormoon (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3311454019 | A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3311455018 | A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Peripheral resistance to thyroid hormone (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Peripheral resistance to thyroid hormone (disorder) | Is a | Thyroid hormone responsiveness defect | true | Inferred relationship | Some | ||
Peripheral resistance to thyroid hormone (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
Peripheral resistance to thyroid hormone (disorder) | Finding site | Thyroid structure | false | Inferred relationship | Some | ||
Peripheral resistance to thyroid hormone (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Peripheral resistance to thyroid hormone (disorder) | Finding site | Thyroid structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Congenital hypothyroidism due to peripheral resistance to thyroid hormone (disorder) | Due to | True | Peripheral resistance to thyroid hormone (disorder) | Inferred relationship | Some | 3 |
This concept is not in any reference sets