raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:325351

46,XY difference of sex development of endocrine origin

Synonyms: 46,XY DSD of endocrine origin · 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
en46,XY difference of sex development of endocrine origin46,XY DSD of endocrine origin · 46,XY disorder of sex development of endocrine origin
frDifférence du développement sexuel 46,XY d'origine endocrineADS 46,XY d'origine endocrine · Anomalie du développement sexuel 46,XY d'origine endocrine · DSD 46,XY d'origine endocrine
deStörung der Geschlechtsentwicklung 46,XY, endokrinen Ursprungs46,XY-DSD, endokrine
esDesarrollo sexual diferente 46,XY de origen endocrinoDSD 46,XY de origen endocrino · Trastorno del desarrollo sexual 46,XY de origen endocrino
itDisturbo dello sviluppo sessuale 46,XY di origine endocrinaDSD 46,XY di origine endocrina
nl46,XY-geslachtsontwikkelingsstoornis van endocriene oorsprong46,XY-DSD van endocriene oorsprong
ptDoença do desenvolvimento sexual 46,XY de origem endócrinaAlteração 46,XY do desenvolvimento sexual de origem endócrina
plZaburzenie różnicowania płci z kariotypem 46,XY pochodzenia endokrynnegoZRP 46,XY pochodzenia endokrynowego
cs46,XY porucha pohlavního vývoje endokrinního původu46,XY DSD endokrinního původu
uk46,XY порушення статевої диференціації ендокринного походження46,XY порушення статевого розвитку ендокринного походження · 46,XY ПСР ендокринного походження
zh46,XY内分泌源性发育障碍46,XY内分泌源性DSD
trEndokrin kökenli 46,XY cinsiyet gelişim bozukluğuEndokrin kaynaklı 46, XY DSD
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO17969Evalidated
UMLSC5679872Evalidated

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 (4):

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