| ID |
http://id.who.int/icd/entity/1987089698 |
| Preferred Name |
Syndrome de Turner |
| Definitions |
Karyotype missing one X chromosome (45, X0 or 45,XO/46,XX mosaicism) ; gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotrophic hypogonadism), absence of sexual development, webbed neck, low set ears, posterior hairline, widely-spaced nipples, short fourth metacarpals, and increased carrying angle at the elbow (cubitus valgus). Often associated with renal, cardiac and ocular abnormalities. |
| Type |
http://www.w3.org/2002/07/owl#Class |
| comment | karyotype manquant un chromosome x (45, x0 ou 45, xo / 46, xx mosaicisme), gonades : ovaires (streak), femelle phénotypique de petite stature, aménorrhée (hypogonadisme hypergonadotrophique), absence de développement sexuel, cou de toile, oreilles basses, herbe postérieure, mamelons très espacés, quatrième métacarpiens courts et angle de support accru au coude (cubitus valgus). souvent associés à des anomalies rénales, cardiaques et oculaires. Karyotype missing one X chromosome (45, X0 or 45,XO/46,XX mosaicism) ; gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotrophic hypogonadism), absence of sexual development, webbed neck, low set ears, posterior hairline, widely-spaced nipples, short fourth metacarpals, and increased carrying angle at the elbow (cubitus valgus). Often associated with renal, cardiac and ocular abnormalities. kariotyp brakujący jeden chromosom x (45, x0 lub 45, xo / 46, xx mozaicyzm), gonady: jajniki (streak), fenotyp z krótką postawą, amenorrhea (hipogonadotroficzny hipogonadyzm), brak rozwoju seksualnego, szyja webowa, niskie uszy set, posterior hairline, szeroko rozmieszczone sutki, krótkie czwarte metacarpals, i zwiększony kąt noszenia w łokieć (cubitus valgus). często związane z nieprawidłowości nerek, serca i okular. karyotype λείπει ένα x χρωμόσωμα (45, x0 ή 45, xo / 46, xx mosaicism), gonads: ovaries (streak), φαινότυπο θηλυκό με μικρό ανάστημα, αμηνόρροια (hypergonadotrophic υπογοναδισμό), απουσία σεξουαλικής ανάπτυξης, webbed λαιμός, χαμηλό σύνολο αυτιά, οπίσθιος hairline, ευρέως τοποθετημένη θηλές, κοντό τέταρτο metacarpals, και αυξημένη γωνία μεταφοράς στο αγκώνα (κύβοι κύβων). Karyotyp fehlt ein x-Chromosom (45, x0 oder 45, xo / 46, xx-Mosaik), Gonaden: Eierstöcke (Streifen), Phänotyp weiblich mit kurzer Statur, Amenorrhoe (hypergonadotropher Hypogonadismus), Abwesenheit sexueller Entwicklung, Webbetthals, tief sitzende Ohren, hinterer Haaransatz, weit gespreizte Brustwarzen, kurze vierte Metakarpale und erhöhter Tragewinkel am Ellenbogen (cubitus valgus). Häufig verbunden mit Nieren-, Herz- und Augenanomalien. |
| IRI | |
| icd11Chapter | 20 |
| broaderTransitive | |
| prefLabel | Syndrome de Turner |
| mms | |
| browserUrl | NA |
| narrowerTransitive | http://id.who.int/icd/entity/95979116 http://id.who.int/icd/entity/1897256597 http://id.who.int/icd/entity/341711617 |
| icd11Code | LD50.0 |
| label | σύνδρομο turner Syndrome de Turner Dreher-Syndrom zespół turnera Turner syndrome |
| subClassOf |
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