46, XX disorders of sex development

Preferred Label : 46, XX disorders of sex development;

MeSH definition : Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.;

MeSH synonym : 46,XX DSD; 46, XX DSD; 46,XX disorders of sex development;

MeSH hyponym : female pseudohermaphroditism; Female Pseudohermaphroditisms; Pseudohermaphroditism, Female; Pseudohermaphroditisms, Female;

Details

Origin ID

D058489;

UMLS CUI

C2936403;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Female pseudohermaphroditism [PASCAL descriptor]
Currated CISMeF NLP mapping
- 46, XX disorders of sex development [Vue CIM-11]
- 46,XX Differences of Sex Development [NCIt concept]
- 46,XX disorder of sex development [ORDO Disease]
- 46,XX disorder of sex development (disorder) [SNOMED CT concept]
- Female pseudohermaphroditism [HPO term]
- Female pseudohermaphroditism [MedDRA LLT]
- Female pseudohermaphroditism (disorder) [SNOMED CT concept]
- Female pseudohermaphroditism, not elsewhere classified [ICD-10 Sub-category]
- Female pseudohermaphroditism, not elsewhere classified [ICD-10 Sub-category (who)]
- Genetic 46,XX disorder of sex development [ORDO Disease]
- Pseudohermaphroditism female [MedDRA Preferred Term]
- female pseudohermaphroditism [SNOMED Notion]
HPO term
- Female pseudohermaphroditism [HPO term]
ORDO relation(s)
- 46,XX disorder of sex development [ORDO Disease]
Record concept(s)
- 46, XX disorders of sex development [MeSH concept]
- female pseudohermaphroditism [MeSH concept]
Related MeSH Supplementary Concept(s)
- Familial gynecomastia, due to increased aromatase activity [MeSH Supplementary Concept]
- aromatase deficiency [MeSH Supplementary Concept]
- cortisone reductase deficiency [MeSH Supplementary Concept]
- michels caskey syndrome [MeSH Supplementary Concept]
- mullerian aplasia [MeSH Supplementary Concept]
- pseudohermaphroditism, female, with skeletal anomalies [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- female pseudohermaphrotidism [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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