Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3311173012 | Familial thyroid dyshormonogenesis (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3311174018 | Familial thyroid dyshormonogenesis | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3311411012 | A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goiter. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3311412017 | A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goitre. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial thyroid dyshormonogenesis | Is a | Primary hypothyroidism | true | Inferred relationship | Some | ||
| Familial thyroid dyshormonogenesis | Is a | Congenital hypothyroidism | true | Inferred relationship | Some | ||
| Familial thyroid dyshormonogenesis | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
| Familial thyroid dyshormonogenesis | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Familial thyroid dyshormonogenesis | Finding site | Thyroid structure | false | Inferred relationship | Some | ||
| Familial thyroid dyshormonogenesis | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Familial thyroid dyshormonogenesis | Finding site | Thyroid structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR