Isolated Follicle Stimulating Hormone Deficiency

Preferred Label : Isolated Follicle Stimulating Hormone Deficiency;

NCIt definition : Subnormal concentration of follicle stimulating hormone (FSH), associated with mutations in the FSHB gene, encoding follitropin subunit beta.;

Alternative definition : NICHD: Subnormal concentration of follicle stimulating hormone (FSH), which is associated with mutations in the FSHB gene, encoding follitropin subunit beta.;

Details

Origin ID

C121142;

UMLS CUI

C1856716;

Automatic exact mappings (from CISMeF team)
- hypogonadotropic hypogonadism 24 without anosmia [DO Concept]
- 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 FSH deficiency [ICD-11 More detail]
- 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 FSH deficiency [ICD-11 More detail]
- Isolated follicle stimulating hormone deficiency [ORDO Disease]
- Isolated follicle stimulating hormone deficiency (disorder) [SNOMED CT concept]
- follicle-stimulating hormone deficiency, isolated [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- FSHB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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