Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3443237014 | Resistance to thyrotropin-releasing hormone syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3443238016 | TRH (thyrotropin-releasing hormone) resistance syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3443240014 | Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) | Due to | Pituitary thyroid hormone resistance | true | Inferred relationship | Some | 1 | |
| Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) | est un(e) (attribut) | Congenital central hypothyroidism (disorder) | true | Inferred relationship | Some | ||
| Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) | localisation d'une constatation (attribut) | structure de la thyroïde | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR