Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5068622014 | Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5068623016 | Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5068626012 | Hypothyroidism due to TSHR (thyroid stimulating hormone receptor) mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5400134013 | A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) | Is a | Thyroid hormone responsiveness defect | true | Inferred relationship | Some | ||
| Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) | 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