Leydig Cell Hypoplasia

Preferred Label : Leydig Cell Hypoplasia;

MeSH note : mutation in LHCGR;

MeSH synonym : LH Resistance Due To LH Receptor Deactivation;

MeSH hyponym : Leydig Cell Hypoplasia with Male Pseudohermaphroditism; Leydig Cell Hypoplasia, Complete; Leydig Cell Agenesis;

Related MeSH term : Hypergonadotropic Hypogonadism, Male, Due To LHCGR Defect; Male Hypergonadotropic Hypogonadism Due To LHCGR Defect; Leydig Cell Hypoplasia, Partial;

Details

Origin ID

C562567;

UMLS CUI

C0860158;

Currated CISMeF NLP mapping
- Hyoplasia of the Leydig cells [HPO term]
- Leydig cell hypoplasia [MedDRA LLT]
- Leydig cell hypoplasia [ORDO Disease]
- Leydig cell hypoplasia [ICD-11 More detail]
- Leydig cell hypoplasia, type I [OMIM Phenotype]
MeSH term(s) associated for indexing
- Disorder of Sex Development, 46,XY [MeSH Descriptor]
- testis [MeSH Descriptor]
Record concept(s)
- 46,XY disorder of sex development due to LH defects [MeSH concept]
- leydig cell hypoplasia [MeSH concept]
- leydig cell hypoplasia, type I [MeSH concept]
- leydig cell hypoplasia, type II [MeSH concept]
- luteinizing hormone resistance, female [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Hyoplasia of the Leydig cells [HPO term]
- Leydig cell hypoplasia [MedDRA LLT]
- Leydig cell hypoplasia [ORDO Disease]
Validated automatic mappings to BTNT
- Leydig cell agenesis [MedDRA LLT]
- Leydig cell agenesis (disorder) [SNOMED CT concept]
- leydig cell agenesis [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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