Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5159871014 | Resistance to thyroid hormone beta | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5159872019 | Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5159873012 | Resistance to thyroid hormone due to mutation in TRb | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5159874018 | Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5400441010 | A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400442015 | A rare genetic hyperthyroidism characterised by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goitre, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta | Is a | Hyperthyroidism | true | Inferred relationship | Some | ||
| Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta | Finding site | Thyroid structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR