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 |
| 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 13729421000172116 | aangeboren hypothyroïdie door TSHR-mutatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 13729431000172118 | congenitale hypothyroïdie door mutatie in TSH-receptor | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 13729441000172113 | congenitale hypothyreoïdie door mutatie in thyrotropinereceptor | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 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 |
This concept is not in any reference sets
FHIR