Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5097823010 | 46,XX ovarian dysgenesis, short stature syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5097824016 | 46,XX ovarian dysgenesis, short stature syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5400265011 | A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400266012 | A rare genetic disorder with difference of sex development characterised by primary amenorrhoea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinising hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Is a | Ovarian dysgenesis | true | Inferred relationship | Some | ||
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Is a | 46,XX disorder of sex development | true | Inferred relationship | Some | ||
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Interprets | Hormone secretion | true | Inferred relationship | Some | 2 | |
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 2 | |
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Interprets | Body height measure (observable entity) | true | Inferred relationship | Some | 3 | |
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Finding site | Ovarian endocrine structure | true | Inferred relationship | Some | 1 | |
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR