Aromatase excess syndrome

Preferred Label : Aromatase excess syndrome;

ICD-11 definition : Overexpression of CYP19A1 causes a rare autosomal dominant disorder referred to as aromatase excess syndrome (AEXS). AEXS is characterized by pre- or peripubertal onset gynecomastia/macromastia, gonadal dysfunction, advanced bone age from childhood to pubertal period, and short adult height.;

Details

Origin ID

191989744;

Automatic exact mappings (from CISMeF team)
- Aromatase excess syndrome [ORDO Disease]
- Aromatase excess syndrome [OMIM Phenotype]
- Aromatase excess syndrome (disorder) [SNOMED CT concept]
- Familial gynecomastia, due to increased aromatase activity [MeSH Supplementary Concept]
- aromatase deficiency [MeSH Supplementary Concept]
- aromatase excess syndrome [DO Concept]

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