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 |
| 5159866019 | Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5159867011 | Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5159868018 | Resistance to thyroid hormone alpha | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5159869014 | Resistance to thyroid hormone due to mutation in TRa | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5159870010 | A rare primary congenital hypothyroidism with characteristics of a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue and thick lips have also been reported. Some patients may show only minimal signs and symptoms. | 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 alpha | Is a | Congenital hypothyroidism | true | Inferred relationship | Some | ||
| Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha | Is a | Primary hypothyroidism | true | Inferred relationship | Some | ||
| Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha | Finding site | Thyroid structure | true | Inferred relationship | Some | 1 | |
| Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha | Is a | Genetic disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR