Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3482379014 | Familial male-limited precocious puberty (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3482380012 | Familial male-limited precocious puberty | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3482381011 | Familial gonadotropin-independent male-limited sexual precocity | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3482382016 | Familial testotoxicosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3482383014 | Male-limited precocious puberty | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3482384015 | A very rare gonadotropin-independent familial form of male-limited precocious puberty generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. Caused by an activating mutation of the Lutropin-Choriogonadotropic Hormone Receptor gene (LHCGR, 2p21) which leads to increased levels of sex steroids in the context of low luteinizing hormone. This receptor's chronic activation leads to precocious testosterone production by Leydig cells. No effect is observed in female carriers due to the dual luteinizing hormone (LH)/ follicle stimulating hormone (FSH) signal necessary to promote ovarian stimulation. Transmission is autosomal dominant. Mothers may act as silent carriers, with each son having a 50% chance of displaying this disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3482385019 | A very rare gonadotropin-independent familial form of male-limited precocious puberty generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. Caused by an activating mutation of the Lutropin-Choriogonadotropic Hormone Receptor gene (LHCGR, 2p21) which leads to increased levels of sex steroids in the context of low luteinising hormone. This receptor's chronic activation leads to precocious testosterone production by Leydig cells. No effect is observed in female carriers due to the dual luteinising hormone (LH)/ follicle stimulating hormone (FSH) signal necessary to promote ovarian stimulation. Transmission is autosomal dominant. Mothers may act as silent carriers, with each son having a 50% chance of displaying this disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial male-limited precocious puberty (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Familial male-limited precocious puberty (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Familial male-limited precocious puberty (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Familial male-limited precocious puberty (disorder) | Is a | Precocious puberty (disorder) | true | Inferred relationship | Some | ||
| Familial male-limited precocious puberty (disorder) | Is a | Disorder of endocrine testis | false | Inferred relationship | Some | ||
| Familial male-limited precocious puberty (disorder) | Is a | Increased hormone production | true | Inferred relationship | Some | ||
| Familial male-limited precocious puberty (disorder) | Interprets | Evaluation procedure (procedure) | false | Inferred relationship | Some | 1 | |
| Familial male-limited precocious puberty (disorder) | Has interpretation | Increased | true | Inferred relationship | Some | 3 | |
| Familial male-limited precocious puberty (disorder) | Interprets | Hormone production | true | Inferred relationship | Some | 3 | |
| Familial male-limited precocious puberty (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Familial male-limited precocious puberty (disorder) | Finding site | Testicular endocrine structure | false | Inferred relationship | Some | 4 | |
| Familial male-limited precocious puberty (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Familial male-limited precocious puberty (disorder) | Interprets | Endocrine observable | false | Inferred relationship | Some | 1 | |
| Familial male-limited precocious puberty (disorder) | Is a | Congenital anomaly of endocrine testis (disorder) | true | Inferred relationship | Some | ||
| Familial male-limited precocious puberty (disorder) | Finding site | Testicular endocrine structure | true | Inferred relationship | Some | 2 | |
| Familial male-limited precocious puberty (disorder) | Associated morphology | Maturation acceleration | true | Inferred relationship | Some | 2 | |
| Familial male-limited precocious puberty (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Familial male-limited precocious puberty (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR