Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3443236017 | Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3443237014 | Resistance to thyrotropin-releasing hormone syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3443238016 | TRH (thyrotropin-releasing hormone) resistance syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3443240014 | Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3443239012 | A type of central congenital hypothyroidism with characteristics of low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to thyrotropin-releasing hormone (TRH). It may or may not be observed from birth. The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Caused by mutations in the TRH receptor gene (TRHR; 8q23). | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Resistance to thyrotropin-releasing hormone syndrome | Due to | Pituitary thyroid hormone resistance | true | Inferred relationship | Some | 1 | |
| Resistance to thyrotropin-releasing hormone syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Resistance to thyrotropin-releasing hormone syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
| Resistance to thyrotropin-releasing hormone syndrome | Is a | Congenital central hypothyroidism | true | Inferred relationship | Some | ||
| Resistance to thyrotropin-releasing hormone syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Resistance to thyrotropin-releasing hormone syndrome | Finding site | Thyroid structure | true | Inferred relationship | Some | 2 |
| 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