Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311174018 | Familial thyroid dyshormonogenesis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 915581000172112 | hypothyroïdie familiale par anomalie de l'hormonosynthèse thyroïdienne | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1004421000172118 | dyshormonosynthèse thyroïdienne | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial thyroid dyshormonogenesis (disorder) | Is a | Congenital hypothyroidism | true | Inferred relationship | Some | ||
| Familial thyroid dyshormonogenesis (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Familial thyroid dyshormonogenesis (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Familial thyroid dyshormonogenesis (disorder) | Finding site | Thyroid structure | false | Inferred relationship | Some | ||
| Familial thyroid dyshormonogenesis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Familial thyroid dyshormonogenesis (disorder) | Finding site | Thyroid structure | true | Inferred relationship | Some | 1 | |
| Familial thyroid dyshormonogenesis (disorder) | Is a | Primary hypothyroidism | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR