Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3311456017 | Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3311457014 | Hypothyroidism due to mutation in transcription factor of pituitary development | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3311458016 | A permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be 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. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q). | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3311459012 | A permanent thyroid deficiency that is present from birth, characterised by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be 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. Goitre is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q). | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypothyroidism due to mutation in transcription factor of pituitary development | Due to | Congenital anomaly of pituitary gland | true | Inferred relationship | Some | 2 | |
| Hypothyroidism due to mutation in transcription factor of pituitary development | Is a | Congenital hypothyroidism | true | Inferred relationship | Some | ||
| Hypothyroidism due to mutation in transcription factor of pituitary development | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
| Hypothyroidism due to mutation in transcription factor of pituitary development | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Hypothyroidism due to mutation in transcription factor of pituitary development | Finding site | Thyroid structure | false | Inferred relationship | Some | ||
| Hypothyroidism due to mutation in transcription factor of pituitary development | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hypothyroidism due to mutation in transcription factor of pituitary development | 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