Status: current, Primitive. Date: 31-Jan 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5159871014 | Resistance to thyroid hormone beta | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5159872019 | Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5159873012 | Resistance to thyroid hormone due to mutation in TRb | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5159874018 | Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 5159875017 | 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. The phenotype most commonly includes goiter, resting tachycardia, osteoporosis, short stature and attention deficit disorder. Some patients may be entirely asymptomatic. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 5159876016 | 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. The phenotype most commonly includes goitre, resting tachycardia, osteoporosis, short stature and attention deficit disorder. Some patients may be entirely asymptomatic. | en | Definition | Active | Case sensitive | 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 | 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
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR