ORPHA:90786

46,XY difference of sex development due to adrenal and testicular steroidogenesis defect

Synonyms: 46,XY DSD due to adrenal and testicular steroidogenesis defect · 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	46,XY difference of sex development due to adrenal and testicular steroidogenesis defect	46,XY DSD due to adrenal and testicular steroidogenesis defect · 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
fr	Différence du développement sexuel 46,XY par défaut de la stéroïdogenèse surrénalienne et testiculaire	ADS 46,XY par défaut de la stéroïdogenèse surrénalienne et testiculaire · Anomalie du développement sexuel 46,XY par défaut de la stéroïdogenèse surrénalienne et testiculaire · DSD 46,XY par défaut de la stéroïdogenèse surrénalienne et testiculaire
de	46,XY-DSD durch Defekt der adrenalen und testikulären Steroidogenese	Störung der Geschlechtsentwicklung 46,XY durch Defekt der adrenalen und testikulären Steroidogenese
es	Desarrollo sexual diferente 46,XY por un defecto en la esteroidogénesis suprarrenal y testicular	DSD 46,XY por un defecto en la esteroidogénesis suprarrenal y testicular · Trastorno del desarrollo sexual 46,XY por un defecto en la esteroidogénesis suprarrenal y testicular
it	Disturbo dello sviluppo sessuale 46,XY da difetto nella steroidogenesi testicolare e surrenalica	DSD 46,XY da difetto nella steroidogenesi testicolare e surrenalica
nl	46,XY-geslachtsontwikkelingsstoornis door defect van adrenale en testiculaire steroïdogenese	46,XY-DSD door defect van adrenale en testiculaire steroïdogenese
pt	Doença do desenvolvimento sexual 46,XY por defeito da esteroidogénese supra-renal e testicular
pl	Zaburzenie różnicowania płci z kariotypem 46,XY spowodowane zaburzeniem steroidogenezy w nadnerczach i jądrach	46,XY DSD spowodowane zaburzeniem steroidogenezy w nadnerczach i jądrach
cs	46,XY porucha pohlavního vývoje způsobená poruchou adrenální a testikulární steroidogeneze	46,XY DSD způsobená poruchou adrenální a testikulární steroidogeneze
uk	46,XY порушення статевої диференціації внаслідок дефекту стероїдогенезу наднирників та яєчок	46,XY порушення статевого розвитку внаслідок дефекту стероїдогенезу наднирників та яєчок · 46,XY ПСР внаслідок дефекту стероїдогенезу наднирників та яєчок
zh	肾上腺和睾丸类固醇生成缺陷所致男性假两性畸形	肾上腺和睾丸类固醇生成缺陷所致男性假两性畸形
tr	46, XY adrenal ve testiküler steroidogenez defektine bağlı cinsiyet gelişim bozukluğu	Adrenal ve testiküler steroidogenez defektine bağlı 46, XY DSD

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C5680187	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (2):

ORPHA:9078346,XY difference of sex development due to a testosterone synthesis defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare transplant-related disorders
ORPHA:32563246,XY difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases

Children (6):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/90786
This record as JSON: /data/d/90786.json