Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3643457015 | Familial hyperprolactinemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3643458013 | Familial hyperprolactinemia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3643459017 | Familial hyperprolactinaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3643460010 | Familial isolated prolactin receptor deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5404153011 | Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404154017 | Familial hyperprolactinaemia is a rare, genetic endocrine disorder characterised by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumour) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinaemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhoea and galactorrhoea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhoea and primary infertility have also been reported in some female patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial hyperprolactinemia | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Familial hyperprolactinemia | Is a | Familial disease | true | Inferred relationship | Some | ||
| Familial hyperprolactinemia | Is a | Hyperprolactinemia | true | Inferred relationship | Some | ||
| Familial hyperprolactinemia | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Familial hyperprolactinemia | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Familial hyperprolactinemia | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Familial hyperprolactinemia | Finding site | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 1 | |
| Familial hyperprolactinemia | Has interpretation | Increased | true | Inferred relationship | Some | 2 | |
| Familial hyperprolactinemia | Interprets | Hormone production | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR