Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3645155017 | Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3645156016 | Short stature with delayed bone age due to thyroid hormone metabolism deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3645158015 | A rare genetic congenital hypothyroidism disorder with characteristics of mild global developmental delay in childhood, short stature, delayed bone age and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness and impaired hearing have also been reported. The disease can be caused by homozygous or compound heterozygous mutation in the SECISBP2 gene on chromosome 9q22. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Is a | Disorder of bone | true | Inferred relationship | Some | ||
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Finding site | Bone structure | true | Inferred relationship | Some | 5 | |
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Due to | Inherited disorder of thyroid metabolism | true | Inferred relationship | Some | 2 | |
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Is a | Delayed bone age | true | Inferred relationship | Some | ||
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Is a | Congenital hypothyroidism | true | Inferred relationship | Some | ||
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Is a | Short stature co-occurrent and due to endocrine disorder | true | Inferred relationship | Some | ||
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency | 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
Musculoskeletal finding reference set
Problem/Diagnosis reference set
FHIR