| ID |
http://id.who.int/icd/entity/2065919805 |
| Preferred Name |
Dysplasie spondyloépiphysaire type Omani |
| Definitions |
Spondyloepiphyseal dysplasia, Omani type is a form of spondyloepiphyseal dysplaisa (SED) characterized by short stature with final height of 110-130 cm, severe and progressive kyphoscoliosis, arthritic changes with joint dislocations (elbows, wrists, knees), rhizomelic limbs, genu valgum, cubitus valgus, brachydactyly, camptodactyly, microdontia, normal intelligence, and ventricular septal defect and deafness in isolated cases. |
| Type |
http://www.w3.org/2002/07/owl#Class |
| comment | Spondyloepiphyseal dysplasia, Omani type is a form of spondyloepiphyseal dysplaisa (SED) characterized by short stature with final height of 110-130 cm, severe and progressive kyphoscoliosis, arthritic changes with joint dislocations (elbows, wrists, knees), rhizomelic limbs, genu valgum, cubitus valgus, brachydactyly, camptodactyly, microdontia, normal intelligence, and ventricular septal defect and deafness in isolated cases. la dysplasie du spondyloépiphyse est une forme de dysplasie spondyloépiphysaire (sed) caractérisée par une courte stature avec une hauteur finale de 110 à 130 cm, une kyphoscoliose sévère et progressive, des changements arthritiques avec des dislocations articulaires (coudes, poignets, genoux), des membres rhizoméliques, genu valgum, cubitus valgus, brachydactyly, camptodactyly, microdontie, intelligence normale, défaut du septum ventriculaire et surdité dans des cas isolés. Spondyloepiphyseal dysplasia, omani type ist eine Form der spondyloepiphyseal dysplaisa (sed), die sich durch kurze Statur mit einer Endhöhe von 110-130 cm, schwere und progressive Kyphoskoliose, arthritische Veränderungen mit Gelenkverrenkungen (Ellbogen, Handgelenke, Knie), rhizomelische Gliedmaßen, Genu valgum, cubitus valgus, Brachydaktylie, Camptodaktylie, Mikrodontie, normale Intelligenz und ventrikuläre Septaldefekte und Taubheit in Einzelfällen auszeichnet. Épisclérite πυώδης episcleritis spondyloepiphyseal dysplasia, typ omani jest formą spondyloepiphyseal dysplaisa (sed) charakteryzuje się krótką postawą z końcowej wysokości 110-130 cm, ciężkie i postępujące kyphoscoliosis, artretycznych zmian z stawów zwichnięć (łokcie, nadgarstki, kolana), kończyn rhizomelic, genu valgum, cubitus valgus, brachydactyly, camptodactyly, microdontia, normalna inteligencja, i wgłębienia przegrody przegrody i głuchość w odosobnionych przypadkach. |
| broaderTransitive | |
| prefLabel | Dysplasie spondyloépiphysaire type Omani |
| browserUrl | NA |
| label | Spondyloepiphyseal dysplasia, Omani type Spondyloepiphyseal Dysplasie, Typ Omani dysplazja spondyloepiphyseal, typ omani Dysplasie spondyloépiphysaire type Omani spondyloepiphyseal δυσπλασία, τύπος omani |
| subClassOf |
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