Disorder of Sex Development, 46,XY

Preferred Label : Disorder of Sex Development, 46,XY;

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

MeSH synonym : 46,XY DSD; 46,XY DSDs; DSD, 46,XY; DSDs, 46,XY; 46, XY DSD; 46,XY disorders of sex development; 46, XY Disorders of Sex Development;

MeSH hyponym : 46,XY sex reversal 3; male pseudohermaphroditism; 46,XY Sex Reversal, Partial or Complete, NR5A1-Related; Sex Reversal, XY, With Or Without Adrenal Failure; 46,XY Gonadal Dysgenesis, Complete or Partial, With or Without Adrenal Failure; Male Pseudohermaphroditisms; Pseudohermaphroditism, Male; Pseudohermaphroditisms, Male;

Details

Origin ID

D058490;

UMLS CUI

C2751824;

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)
- 46,XY sex reversal 3 [DO Concept]
- Male pseudohermaphroditism [PASCAL descriptor]
- Male pseudohermaphroditism [HPO term]
- Male pseudohermaphroditism [MedDRA LLT]
- Male pseudohermaphroditism (disorder) [SNOMED CT concept]
- Male pseudohermaphroditism, not elsewhere classified [ICD-10 Sub-category (who)]
- Pseudohermaphroditism male [MedDRA Preferred Term]
- Pseudohermaphroditism, male [ACR pathology]
- male pseudohermaphroditism [SNOMED Notion]
Currated CISMeF NLP mapping
- 46, XY disorders of sex development [Vue CIM-11]
- 46,XY Differences of Sex Development [NCIt concept]
- 46,XY disorder of sex development [ORDO Disease]
- 46,XY disorder of sex development (disorder) [SNOMED CT concept]
HPO term
- Male pseudohermaphroditism [HPO term]
ORDO relation(s)
- 46,XY disorder of sex development [ORDO Disease]
Record concept(s)
- 46,XY sex reversal 3 [MeSH concept]
- Disorder of Sex Development, 46,XY [MeSH concept]
- male pseudohermaphroditism [MeSH concept]
Related MeSH Supplementary Concept(s)
- 17-Hydroxysteroid dehydrogenase deficiency [MeSH Supplementary Concept]
- 46,Xy true hermaphroditism, Sry-Related [MeSH Supplementary Concept]
- Leydig Cell Hypoplasia [MeSH Supplementary Concept]
- Male pseudohermaphroditism-mental retardation syndrome, Verloes type [MeSH Supplementary Concept]
- Persistent Mullerian duct syndrome [MeSH Supplementary Concept]
- lipoid congenital adrenal hyperplasia [MeSH Supplementary Concept]
- male pseudohermaphroditism due to defective LH molecule [MeSH Supplementary Concept]
- nivelon nivelon mabille syndrome [MeSH Supplementary Concept]
- pseudovaginal perineoscrotal hypospadias [MeSH Supplementary Concept]
- urioste Martinez-Frias syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46, XY disorders of sex development [Vue CIM-11]
- 46,XY Differences of Sex Development [NCIt concept]
- 46,XY disorder of sex development [ORDO Disease]
- 46,XY disorder of sex development (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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