Isolated FSH deficiency

Preferred Label : Isolated FSH deficiency;

ICD-11 definition : A rare disorder of impaired synthesis/secretion of follicle-stimulating hormone (FSH) in the pituitary gland, manifesting in hypogonadotropic hypogonadism, usually caused by a mutation of FSH beta subunit gene.;

ICD-11 synonym : Isolated follicle stimulating hormone deficiency;

Details

Origin ID

1431378723;

UMLS CUI

C1856716;

Automatic exact mappings (from CISMeF team)
- isolated follitropin deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- Follicle-stimulating hormone deficiency, isolated [MeSH concept]
- Hypogonadotropic hypogonadism 24 with or without anosmia [OMIM Phenotype]
- Isolated Follicle Stimulating Hormone Deficiency [NCIt concept]
- Isolated follicle stimulating hormone deficiency [ORDO Disease]
- Isolated follicle stimulating hormone deficiency (disorder) [SNOMED CT concept]
- follicle-stimulating hormone deficiency, isolated [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Follicle-stimulating hormone deficiency, isolated [MeSH concept]
- Hypogonadotropic hypogonadism 24 with or without anosmia [OMIM Phenotype]
- Isolated Follicle Stimulating Hormone Deficiency [NCIt concept]
- Isolated follicle stimulating hormone deficiency [ORDO Disease]
- Isolated follicle stimulating hormone deficiency (disorder) [SNOMED CT concept]
- follicle-stimulating hormone deficiency, isolated [MeSH Supplementary Concept]

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