Familial Male Precocious Puberty

Preferred Label : Familial Male Precocious Puberty;

NCIt related terms : Male-limited Precocious Puberty; Familial Testotoxicosis; Testotoxicosis; Gonadotropin-independent Familial Sexual Precocity;

NCIt definition : Early development of isosexual secondary characteristics in boys, due to autosomal dominant mutations in the LHCGR gene.;

Alternative definition : NICHD: Early development of isosexual secondary characteristics in boys due to autosomal dominant mutations in the LHCGR gene.;

Details

Origin ID

C120143;

UMLS CUI

C4055017;

Automatic exact mappings (from CISMeF team)
- Testotoxicosis [ICD-11 More detail]
- familial male-limited precocious puberty [DO Concept]
- puberty, precocious [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial Testotoxicosis [MeSH concept]
- Familial male-limited precocious puberty [ORDO Disease]
- Familial male-limited precocious puberty (disorder) [SNOMED CT concept]
- Gonadotrophin-independent male sexual precocity [MedDRA LLT]
- Gonadotropin independent precocious puberty [MedDRA LLT]
- Gonadotropin-independent familial sexual precocity (disorder) [Inactive SNOMED CT concept]
- Precocious puberty, male-limited [OMIM Phenotype]
- Testotoxicosis [MedDRA Preferred Term]
- familial male limited precocious puberty [Disease (Nov.)]
- familial testotoxicosis [MeSH Supplementary Concept]
Semantic type(s)
- Finding [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- LHCGR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients