aromatase deficiency

Preferred Label : aromatase deficiency;

CISMeF synonym : aromatase activity, increased; aromatase excess syndrome; gynecomastia, familial, due to increased aromatase activity; gynecomastia, hereditary; increased aromatase activity;

MeSH synonym : pseudohermaphroditism, female, due to placental aromatase deficiency;

Details

Origin ID

C537436;

UMLS CUI

C1960539;

Automatic exact mappings (from CISMeF team)
- Aromatase excess syndrome [ICD-11 More detail]
- Aromatase excess syndrome [ORDO Disease]
- Aromatase excess syndrome [OMIM Phenotype]
- Aromatase excess syndrome (disorder) [SNOMED CT concept]
- aromatase excess syndrome [DO Concept]
Currated CISMeF NLP mapping
- Aromatase deficiency [ICD-11 More detail]
- Aromatase deficiency [OMIM Phenotype]
- Aromatase deficiency [ORDO Disease]
- P450-Aromatase Deficiency [NCIt concept]
MeSH term(s) associated for indexing
- 46, XX disorders of sex development [MeSH Descriptor]
- aromatase [MeSH Descriptor]
- gynecomastia [MeSH Descriptor]
- infertility, male [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Aromatase deficiency [ORDO Disease]
Record concept(s)
- Aromatase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aromatase deficiency [OMIM Phenotype]
- Aromatase deficiency [ORDO Disease]
- Maternal virilization due to placental aromatase deficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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