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CHARGE SYNDROME [1 record]
Record 1 - internal organization data 2016-01-19
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Sociology of persons with a disability
- Pregnancy
Record 1, Main entry term, English
- CHARGE syndrome
1, record 1, English, CHARGE%20syndrome
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
CHARGE syndrome is a multiple congenital anomaly syndrome. The acronym CHARGE is based on cardinal features identified when the syndrome was first delineated-coloboma, congenital heart defects, choanal atresia, retardation of growth, developmental delay, genital abnormalities, ear abnormalities and deafness. A consistent feature of CHARGE syndrome is semicircular canal hypoplasia resulting in vestibular areflexia. Neonates with CHARGE syndrome often have multiple life-threatening medical conditions. 2, record 1, English, - CHARGE%20syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Sociologie des personnes handicapées
- Grossesse
Record 1, Main entry term, French
- syndrome CHARGE
1, record 1, French, syndrome%20CHARGE
correct, masculine noun
Record 1, Abbreviations, French
- SC 2, record 1, French, SC
correct, masculine noun
Record 1, Synonyms, French
- syndrome de C.H.A.R.G.E 3, record 1, French, syndrome%20de%20C%2EH%2EA%2ER%2EG%2EE
masculine noun, less frequent
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Le syndrome CHARGE est une maladie rare qui affecte différentes parties du corps. Il est à présent reconnu comme étant la cause majeure de la surdité et cécité congénitale. Le terme « CHARGE » est un acronyme des critères majeurs de cette maladie. 4, record 1, French, - syndrome%20CHARGE
Record number: 1, Textual support number: 2 CONT
L'acronyme CHARGE désigne un ensemble de malformations congénitales comprenant un colobome, une cardiopathie, une atrésie des choanes, un retard statural et de développement, une hypoplasie génitale et une anomalie des oreilles. Plusieurs arguments sont en faveur d'une origine génétique dans ce syndrome, en particulier une concordance clinique observée chez les jumeaux monozygotes. 5, record 1, French, - syndrome%20CHARGE
Record 1, Spanish
Record 1, Textual support, Spanish
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