Hypogonadism, male

Preferred Label : Hypogonadism, male;

Type : Other, mainly phenotypes with suspected mendelian basis;

Included titles and symbols : Hypogonadism and testicular atrophy;

Description : See 307300 for a discussion of X-linked forms of male hypogonadism. Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961).;

Inheritance : Autosomal recessive;

Prefixed ID : 241100;

Details

Origin ID

241100;

UMLS CUI

C0151721;

Automatic exact mappings (from CISMeF team)
- eunuchism [MeSH Descriptor]
- hypogonadism and testicular atrophy [MeSH Supplementary Concept]
- hypogonadism and testicular atrophy [MeSH concept]
Currated CISMeF NLP mapping
- Eunuchoidism [MedDRA Preferred Term]
- Hypogonadism male [MedDRA Preferred Term]
- Male hypogonadism [HPO term]
- Male hypogonadism (disorder) [SNOMED CT concept]
- Testicular hypogonadism [MedDRA LLT]
- eunuchoidism [MeSH concept]
- eunuchoidism, nos [SNOMED Notion]
- male hypogonadism [Disease (Nov.)]
- male hypogonadism, nos [SNOMED Notion]
- testicular hypogonadism, nos [SNOMED Notion]
DO Cross reference
- hypogonadism [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Gynecomastia [HPO term]
- Hypospadias [HPO term]
- Male hypogonadism [HPO term]
- Micropenis [HPO term]
- Testicular atrophy [HPO term]
See also inter- (CISMeF)
- Testicular failure [MedDRA Preferred Term]
- Testicular failure NOS [MedDRA LLT]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Eunuchoidism [MedDRA Preferred Term]
- Hypogonadism male [MedDRA Preferred Term]
- Male hypogonadism [HPO term]
- Male hypogonadism (disorder) [SNOMED CT concept]
- Testicular Failure [NCIt concept]
- Testicular failure [MedDRA Preferred Term]
- Testicular failure NOS [MedDRA LLT]
- Testicular hypogonadism [MedDRA LLT]
- eunuchoidism [MeSH concept]
- eunuchoidism, nos [SNOMED Notion]
- male hypogonadism [Disease (Nov.)]
- male hypogonadism, nos [SNOMED Notion]
- testicular hypogonadism, nos [SNOMED Notion]

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