raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:2982

46,XX difference of sex development

Synonyms: 46,XX DSD · 46,XX disorder of sex development

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,XX difference of sex development46,XX DSD · 46,XX disorder of sex development
frDifférence du développement sexuel 46,XXADS 46,XX · Anomalie du développement sexuel 46,XX · DSD 46,XX
deStörung der Geschlechtsentwicklung bei 46,XX Karyotyp46,XX-DSD · Pseudohermaphroditismus, weiblicher
esDesarrollo sexual diferente 46,XXDSD 46,XX · Trastorno del desarrollo sexual 46,XX
itDisturbi dello sviluppo sessuale 46,XXPseudoermafroditismo femminile
nl46,XX-geslachtsontwikkelingsstoornis46,XX-DSD
ptDoença do desenvolvimento sexual 46,XX
plZaburzenie różnicowania płci z kariotypem 46,XY46,XX DSD · Pseudohermafrodytyzm żeński
cs46,XX porucha sexuálního vývoje46,XX DSD · Ženský pseudohermafroditismus
uk46,XX порушення статевої диференціації46,XX порушення статевого розвитку · 46,XX DSD
zh女性假两性畸形女性假两性畸形
tr46, XX cinsiyet gelişim bozukluğu46, XX DSD
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0017576Evalidated
MONDO17576Evalidated
MeSHD058489Evalidated
UMLSC2936403Evalidated

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 (3):

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