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DIAGNOSTIC TARDIF [3 records]
Record 1 - internal organization data 2024-09-12
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- Noonan syndrome
1, record 1, English, Noonan%20syndrome
correct
Record 1, Abbreviations, English
- NS 2, record 1, English, NS
correct
Record 1, Synonyms, English
- Noonan's syndrome 3, record 1, English, Noonan%27s%20syndrome
correct
- NS 3, record 1, English, NS
correct
- NS 3, record 1, English, NS
- pseudo-Turner syndrome 4, record 1, English, pseudo%2DTurner%20syndrome
obsolete
- male Turner syndrome 2, record 1, English, male%20Turner%20syndrome
avoid, see observation, obsolete
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Noonan syndrome is typically a genetically inherited disorder with heterogeneous phenotypic manifestations that can change with age. The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. Noonan syndrome is typically inherited in an autosomal dominant manner. At least 8 gene mutations can cause this syndrome, and patient presentation can range from mild to severe. 5, record 1, English, - Noonan%20syndrome
Record number: 1, Textual support number: 1 OBS
male Turner syndrome: An early term for NS, "male Turner syndrome," incorrectly implied that the condition would not be found in females. 2, record 1, English, - Noonan%20syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- syndrome de Noonan
1, record 1, French, syndrome%20de%20Noonan
correct, masculine noun
Record 1, Abbreviations, French
- SN 2, record 1, French, SN
correct, masculine noun
Record 1, Synonyms, French
- pseudo-Turner 3, record 1, French, pseudo%2DTurner
masculine noun, obsolete
- syndrome de Turner masculin 4, record 1, French, syndrome%20de%20Turner%20masculin
avoid, see observation, masculine noun, obsolete
- syndrome de Turner mâle 5, record 1, French, syndrome%20de%20Turner%20m%C3%A2le
avoid, see observation, masculine noun, obsolete
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Le syndrome de Noonan est un syndrome d’origine génétique qui se manifeste par un aspect particulier des traits du visage, des malformations du cœur et une petite taille. [...] Le syndrome de Noonan touche indifféremment les garçons et les filles. Cette maladie n’ est pas spécifique d’une population ou d’une région particulières. [...] Beaucoup de manifestations de la maladie sont présentes dès la naissance, mais elles sont discrètes et peu spécifiques. C'est pourquoi le diagnostic de syndrome de Noonan est souvent tardif(entre 5 et 10 ans) lorsqu'il n’ y a pas de rétrécissement de la valve pulmonaire ou de cardiomyopathie. Les particularités du visage s’estompent à l'âge adulte. 6, record 1, French, - syndrome%20de%20Noonan
Record number: 1, Textual support number: 1 OBS
syndrome de Turner masculin; syndrome de Turner mâle : Ces désignations vieillies laissent entendre que les personnes de sexe féminin ne peuvent pas être atteintes de ce syndrome, ce qui est erroné. 7, record 1, French, - syndrome%20de%20Noonan
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2022-07-18
Record 2, English
Record 2, Subject field(s)
- Diagnostic Procedures (Medicine)
Record 2, Main entry term, English
- late diagnosis
1, record 2, English, late%20diagnosis
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
Record 2, Textual support, English
Record number: 2, Textual support number: 1 CONT
Little is known about the pathway to diagnosis for patients with cancer, and this is especially the case in lung cancer where the generally held view is that the disease is silent until it is far advanced and therefore late diagnosis is believed to be inevitable. There is evidence to suggest that avoidable delays in diagnosis occur, and these are attributable to both doctor and patient behaviour. 2, record 2, English, - late%20diagnosis
Record 2, French
Record 2, Domaine(s)
- Méthodes diagnostiques (Médecine)
Record 2, Main entry term, French
- diagnostic tardif
1, record 2, French, diagnostic%20tardif
correct, masculine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 CONT
Ainsi, une maladie hépatique peut passer inaperçue de façon prolongée ou se révéler tardivement, uniquement au stade des complications (hémorragie digestive, ascite, encéphalopathie...). Cette particularité explique pour une part les diagnostics tardifs. 2, record 2, French, - diagnostic%20tardif
Record 2, Spanish
Record 2, Textual support, Spanish
Record 3 - internal organization data 2018-09-05
Record 3, English
Record 3, Subject field(s)
- Fungal Diseases (Mycoses)
- The Nose (Medicine)
Record 3, Main entry term, English
- isolated sphenoid sinus aspergillosis
1, record 3, English, isolated%20sphenoid%20sinus%20aspergillosis
correct
Record 3, Abbreviations, English
Record 3, Synonyms, English
Record 3, Textual support, English
Record 3, Key term(s)
- isolated aspergillosis of the sphenoid sinus
Record 3, French
Record 3, Domaine(s)
- Maladies fongiques (mycoses)
- Nez (Médecine)
Record 3, Main entry term, French
- aspergillose isolée du sinus sphénoïdal
1, record 3, French, aspergillose%20isol%C3%A9e%20du%20sinus%20sph%C3%A9no%C3%AFdal
correct, feminine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
Record 3, Textual support, French
Record number: 3, Textual support number: 1 CONT
L'aspergillose isolée du sinus sphénoïdal est une pathologie rare dont le diagnostic est souvent tardif compte-tenu du caractère varié et non spécifique des symptômes cliniques. 2, record 3, French, - aspergillose%20isol%C3%A9e%20du%20sinus%20sph%C3%A9no%C3%AFdal
Record 3, Spanish
Record 3, Textual support, Spanish
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