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BLOOM-TORRE-MACHACEK SYNDROME [1 record]
Record 1 - internal organization data 2019-02-13
Record 1, English
Record 1, Subject field(s)
- Human Diseases
- Genetics
Record 1, Main entry term, English
- Bloom syndrome
1, record 1, English, Bloom%20syndrome
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- Bloom’s syndrome 2, record 1, English, Bloom%26rsquo%3Bs%20syndrome
correct
- congenital telangiectatic erythema 3, record 1, English, congenital%20telangiectatic%20erythema
correct
- Bloom-Torre-Machacek syndrome 4, record 1, English, Bloom%2DTorre%2DMachacek%20syndrome
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
A congenital telangiectatic erythema, primarily in butterfly distribution, of the face and occasionally of the hands and forearms, with sun sensitivity of skin lesions and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull ... 5, record 1, English, - Bloom%20syndrome
Record number: 1, Textual support number: 1 OBS
Many patients are of Ashkenazi Jewish ancestry ... 6, record 1, English, - Bloom%20syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines
- Génétique
Record 1, Main entry term, French
- syndrome de Bloom
1, record 1, French, syndrome%20de%20Bloom
correct, masculine noun
Record 1, Abbreviations, French
- BS 2, record 1, French, BS
correct, masculine noun
Record 1, Synonyms, French
- érythème télangiectasique congénital 2, record 1, French, %C3%A9ryth%C3%A8me%20t%C3%A9langiectasique%20cong%C3%A9nital
correct, masculine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Érythème télangiectasique en aile de papillon du visage, associé à une photosensibilité, des lésions bulleuses et un nanisme congénital. 3, record 1, French, - syndrome%20de%20Bloom
Record number: 1, Textual support number: 1 CONT
Les personnes atteintes du syndrome de Bloom sont habituellement de plus petite taille que la moyenne, ont une voix plus aiguë et ont des éruptions cutanées plus facilement (en particulier sur le nez et les joues) après avoir été exposées au soleil. 4, record 1, French, - syndrome%20de%20Bloom
Record number: 1, Textual support number: 1 OBS
La prévalence globale [de la maladie] est inconnue, mais elle est estimée à environ 1/48 000 naissances au sein de la population juive Ashkénaze. 5, record 1, French, - syndrome%20de%20Bloom
Record number: 1, Textual support number: 2 OBS
BS : de l'anglais Bloom syndrome. 6, record 1, French, - syndrome%20de%20Bloom
Record 1, Spanish
Record 1, Textual support, Spanish
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