ORPHA:443090
46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
Synonyms: 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect | 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect |
| fr | Différence du développement sexuel 46,XY par défaut de la voie alterne de la biosynthèse de la dihydrotestosterone | Anomalie du développement sexuel 46,XY par défaut de la voie alterne de la biosynthèse de la dihydrotestosterone |
| de | Störung der Geschlechtsentwicklung 46,XY, durch Dihydrotestosteron Back-Door-Pathway-Biosynthesedefekt | |
| es | Anomalía del desarrollo sexual 46,XY por un defecto de la biosíntesis de dihidrotestosterona por la via alterna | ADS 46,XY por un defecto de la biosíntesis de dihidrotestosterona por la vía alterna · Desarrollo sexual diferente 46,XY por un defecto de la biosíntesis de dihidrotestosterona por la vía alterna |
| it | Disturbo 46,XY dello sviluppo sessuale da difetto della via alternativa della biosintesi del diidrotestosterone | |
| nl | 46,XY-geslachtsontwikkelingsstoornis door defect van alternatieve biosynthese van dihydrotestosteron | |
| pt | Doença 46, XY do desenvolvimento sexual devido ao defeito de biossíntese da via da porta das traseiras da dihidrotestosterona | |
| pl | Zaburzenie różnicowania płci z kariotypem 46,XY z powodu defektu szlaku "backdoor" biosyntezy dihydrotestosteronu | = en |
| cs | 46,XY porucha pohlavního vývoje způsobená defektem postranní dráhy biosyntézy dihydrotestosteronu | = en |
| uk | 46,XY порушення статевої диференціації, зумовлене дефектом біосинтезу обхідного шляху дигідротестостерону | 46,XY порушення статевого розвитку внаслідок дефекту біосинтезу дигідротестостерону зворотного шляху |
| zh | 双氢睾酮合成途径缺陷所致46,XY 性发育障碍 | |
| tr | Dihidrotestosteron arka yolağındaki biyosentez defektine bağlı 46,XY cinsiyet gelişim bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18618 | E | validated | |
| UMLS | C5816690 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:32535746,XY difference of sex development due to impaired androgen production
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare transplant-related disorders
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/443090
- This record as JSON: /data/d/443090.json