Precocious puberty, male-limited

Preferred Label : Precocious puberty, male-limited;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sexual precocity, familial, gonadotropin-independent; Testotoxicosis, familial;

Included titles and symbols : Leydig cell adenoma, somatic, with male-limited precocious puberty;

Description : Familial male precocious puberty is a gonadotropin-independent disorder that is inherited in an autosomal dominant, male-limited pattern. Affected males generally exhibit signs of puberty by age 4 years (Shenker et al., 1993).;

Inheritance : Sex-limited autosomal dominant;

Prefixed ID : #176410;

Details

Origin ID

176410;

UMLS CUI

C0342549;

Automatic exact mappings (from CISMeF team)
- Testotoxicosis [ICD-11 More detail]
- familial male-limited precocious puberty [DO Concept]
- leydig cell adenoma, somatic, with Male-Limited precocious puberty [MeSH Supplementary Concept]
- leydig cell adenoma, somatic, with Male-Limited precocious puberty [MeSH concept]
- puberty, precocious [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial Male Precocious Puberty [NCIt concept]
- 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 Precocious Puberty [NCIt concept]
- Gonadotropin-independent familial sexual precocity (disorder) [Inactive SNOMED CT concept]
- familial male limited precocious puberty [Disease (Nov.)]
- familial testotoxicosis [MeSH Supplementary Concept]
DO Cross reference
- familial male-limited precocious puberty [DO Concept]
Genes related to phenotype
- Luteinizing hormone/choriogonadotropin receptor [OMIM gene]
HPO term(s)
- Decreased testicular size [HPO term]
- Precocious puberty in males [HPO term]
- Sex-limited autosomal dominant [HPO term]
Manual BTNT mappings - CISMeF
- Leydig cell adenoma [Disease (Nov.)]
ORDO concept(s)
- Familial male-limited precocious puberty [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Testotoxicosis [MeSH concept]
- Familial male-limited precocious puberty (disorder) [SNOMED CT concept]
- Gonadotrophin-independent male sexual precocity [MedDRA LLT]
- Gonadotropin independent precocious puberty [MedDRA LLT]
- Gonadotropin-Independent Precocious Puberty [NCIt concept]
- Gonadotropin-independent familial sexual precocity (disorder) [Inactive SNOMED CT concept]
- familial male limited precocious puberty [Disease (Nov.)]
- familial testotoxicosis [MeSH Supplementary Concept]

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