raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:325713

Genetic 46,XY difference of sex development of endocrine origin

Synonyms: Genetic 46,XY DSD of endocrine origin · Genetic 46,XY disorder of sex development of endocrine origin

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enGenetic 46,XY difference of sex development of endocrine originGenetic 46,XY DSD of endocrine origin · Genetic 46,XY disorder of sex development of endocrine origin
frDifférence du développement sexuel 46,XY d'origine endocrine et génétiqueADS 46,XY d'origine endocrine et génétique · Anomalie du développement sexuel 46,XY d'origine endocrine et génétique · DSD 46,XY d'origine endocrine et génétique
deStörung der Geschlechtsentwicklung 46,XY, genetisch bedingte, endokrinen Ursprungs46,XY-DSD, genetische Formen endokrinen Ursprungs
esDesarrollo sexual diferente 46,XY genético de origen endocrinoDSD 46,XY genético de origen endocrino · Trastorno del desarrollo sexual 46,XY genético de origen endocrino
itDisturbo genetico dello sviluppo sessuale 46,XY di origine endocrinaDSD 46,XY genetico di origine endocrina
nlGenetische 46,XY-geslachtsontwikkelingsstoornis van endocriene oorsprongGenetische 46,XY-DSD van endocriene oorsprong
ptDoença do desenvolvimento sexual 46,XY genética de origem endócrina
plZaburzenie różnicowania płci z kariotypem 46,XY uwarunkowane genetycznie pochodzenia endokrynologicznegoZRP 46,XY uwarunkowane genetycznie pochodzenia endokrynologicznego
csGeneticky podmíněná 46,XY porucha sexuálního vývoje endokrinního původuGeneticky podmíněná 46,XY DSD endokrinního původu
ukГенетичне порушення статевої диференціації 46,XУ ендокринного походженняГенетичне 46,XY порушення статевого розвитку ендокринного походження · Генетичне 46,XY ПСР ендокринного походження
zh遗传性内分泌源性46,XY性发育障碍遗传性内分泌源性46,XYDSD
trEndokrin kökenli genetik 46, XY cinsiyet gelişim bozukluğuEndokrin kaynaklı genetik 46,XY DSD
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5679862Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (2):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card