Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3787620019 | X-linked acrogigantism due to Xq26 microduplication | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3787621015 | X-linked acrogigantism due to Xq26 microduplication (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3787696019 | Chromosome Xq26 microduplication syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5159798016 | X-LAG (X-linked acrogigantism) due to Xq26 microduplication | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3787697011 | A type of familial infantile gigantism caused by microduplication of Xq26.3. Onset usually occurs in the first year of life in previously normal infants. Patients present with gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. May present as a sporadic condition or as familial isolated pituitary adenomas. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked acrogigantism due to Xq26 microduplication | Associated morphology | Growth acceleration | true | Inferred relationship | Some | 4 | |
| X-linked acrogigantism due to Xq26 microduplication | Interprets | Hormone production | true | Inferred relationship | Some | 2 | |
| X-linked acrogigantism due to Xq26 microduplication | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| X-linked acrogigantism due to Xq26 microduplication | Due to | Overproduction of growth hormone | true | Inferred relationship | Some | 3 | |
| X-linked acrogigantism due to Xq26 microduplication | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| X-linked acrogigantism due to Xq26 microduplication | Has interpretation | Increased | true | Inferred relationship | Some | 2 | |
| X-linked acrogigantism due to Xq26 microduplication | Is a | Familial infantile gigantism (disorder) | true | Inferred relationship | Some | ||
| X-linked acrogigantism due to Xq26 microduplication | Occurrence | Infancy | true | Inferred relationship | Some | 4 | |
| X-linked acrogigantism due to Xq26 microduplication | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| X-linked acrogigantism due to Xq26 microduplication | Finding site | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 4 | |
| X-linked acrogigantism due to Xq26 microduplication | Is a | Anomaly of chromosome X | true | Inferred relationship | Some | ||
| X-linked acrogigantism due to Xq26 microduplication | Finding site | Sex chromosome X | true | Inferred relationship | Some | 1 | |
| X-linked acrogigantism due to Xq26 microduplication | Interprets | Height / growth measure | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR