Status: current, Primitive. Date: 30-Jun 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5068621019 | Hypothyroidism due to TSH receptor mutation | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5068622014 | Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 5068623016 | Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5068626012 | Hypothyroidism due to TSHR (thyroid stimulating hormone receptor) mutation | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5068624010 | A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to thyroid stimulating hormone (TSH). Clinical manifestations are those of other forms of congenital hypothyroidism. Goitre is always absent. Caused by mutations in the TSH receptor gene (TSHR, 14q31) resulting in resistance to TSH, which causes a reduction in thyroid hormone production. Mutations in TSHR may also cause thyroid hypoplasia. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 5068625011 | A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to thyroid stimulating hormone (TSH). Clinical manifestations are those of other forms of congenital hypothyroidism. Goiter is always absent. Caused by mutations in the TSH receptor gene (TSHR, 14q31) resulting in resistance to TSH, which causes a reduction in thyroid hormone production. Mutations in TSHR may also cause thyroid hypoplasia. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation | Is a | Thyroid hormone responsiveness defect | true | Inferred relationship | Some | ||
| Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation | 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