Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3706553013 | X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706554019 | IGSF1 (immunoglobulin superfamily member 1) deficiency syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706555018 | X-linked central congenital hypothyroidism with late-onset macroorchidism | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706556017 | X-linked central congenital hypothyroidism with late-onset testicular enlargement | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706557014 | A rare genetic endocrine disease with characteristics of central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency. Caused by mutation in the IGSF1 gene on chromosome Xq26. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 1 | |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) | Finding site | Thyroid structure | true | Inferred relationship | Some | 2 | |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) | Occurrence | Adolescence | true | Inferred relationship | Some | 1 | |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) | Is a | Central hypothyroidism | true | Inferred relationship | Some | ||
| X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) | Finding site | Testis structure | true | Inferred relationship | Some | 1 | |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) | Is a | Hypertrophy of testis | true | Inferred relationship | Some | ||
| X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR