Status: current, Primitive. 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 | Initial character case insensitive | SNOMED CT core |
5097824016 | 46,XX ovarian dysgenesis, short stature syndrome | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
5097821012 | A rare genetic disorder 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 | Case sensitive | SNOMED CT core |
5097822017 | A rare genetic disorder 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
46,XX ovarian dysgenesis, short stature syndrome | Is a | Ovarian dysgenesis | true | Inferred relationship | Some | ||
46,XX ovarian dysgenesis, short stature syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
46,XX ovarian dysgenesis, short stature syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
46,XX ovarian dysgenesis, short stature syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
46,XX ovarian dysgenesis, short stature syndrome | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
46,XX ovarian dysgenesis, short stature syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
46,XX ovarian dysgenesis, short stature syndrome | Is a | 46,XX disorder of sex development | true | Inferred relationship | Some | ||
46,XX ovarian dysgenesis, short stature syndrome | Interprets | Hormone secretion | true | Inferred relationship | Some | 2 | |
46,XX ovarian dysgenesis, short stature syndrome | Has interpretation | Decreased | true | Inferred relationship | Some | 2 | |
46,XX ovarian dysgenesis, short stature syndrome | Interprets | Body height measure | true | Inferred relationship | Some | 3 | |
46,XX ovarian dysgenesis, short stature syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
46,XX ovarian dysgenesis, short stature syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
46,XX ovarian dysgenesis, short stature syndrome | Finding site | Ovarian endocrine structure | true | Inferred relationship | Some | 1 | |
46,XX ovarian dysgenesis, short stature syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
46,XX ovarian dysgenesis, short stature syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set