focomelie type Schinzel (aandoening)
focomelie type Schinzel
syndroom van Al Awadi-Raas-Rothschild
Al Awadi-Raas-Rothschild-syndroom
Schinzel phocomelia syndrome
Phocomelia Schinzel type
Al Awadi-Raas-Rothschild syndrome
Skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. Only a few cases have been described. Patients have intercalary limb deficiencies (phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia) and skull defects. Additional features may include thoracic dystrophy, unusual facies (dysplastic and large ears, and a high and narrow palate), and genital malformations.Growth and mental development are normal.
Associated morphologymorfologische afwijking
Finding sitestructuur van pelvis
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitegedeelte van extremiteit
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS Q87.2
CorrelationSNOMED CT source code to target map code correlation not specified