P450-Aromatase Deficiency

Preferred Label : P450-Aromatase Deficiency;

NCIt related terms : Aromatase deficiency;

NCIt definition : Deficiency of activity of the enzyme aromatase, which converts androgens to estrogens.;

Alternative definition : NICHD: Decreased activity of the steroidogenic enzyme, P450 aromatase, associated with mutation(s) in the CYP19A1 gene, resulting in reduced estrogen production.;

Details

Origin ID

C120144;

UMLS CUI

C3891159;

Currated CISMeF NLP mapping
- Aromatase deficiency [OMIM Phenotype]
- Aromatase deficiency [ICD-11 More detail]
- Aromatase deficiency [ORDO Disease]
- Aromatase deficiency [MeSH concept]
- aromatase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Laboratory or Test Result [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- CYP19A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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