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 |
| 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 | Inactive | 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 | Inactive | Entire term case sensitive (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 |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. | Is a | Thyroid hormone responsiveness defect | true | Inferred relationship | Some | ||
| A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. | 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