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DYSMORPHIE [19 records]
Record 1 - internal organization data 2024-12-24
Record 1, English
Record 1, Subject field(s)
- Psychology
- Finance
Record 1, Main entry term, English
- money dysmorphia
1, record 1, English, money%20dysmorphia
correct, noun
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Money dysmorphia is a psychological condition where individuals have distorted perceptions of their financial status, often leading to unhealthy behaviors and attitudes toward money. 1, record 1, English, - money%20dysmorphia
Record 1, French
Record 1, Domaine(s)
- Psychologie
- Finances
Record 1, Main entry term, French
- dysmorphie financière
1, record 1, French, dysmorphie%20financi%C3%A8re
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
[...] la dysmorphie financière se manifeste par une perception déformée et souvent négative de sa propre situation économique, même en l'absence de problèmes financiers réels. 1, record 1, French, - dysmorphie%20financi%C3%A8re
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2023-01-17
Record 2, English
Record 2, Subject field(s)
- Neuroses
- Clinical Psychology
Record 2, Main entry term, English
- body dysmorphic disorder
1, record 2, English, body%20dysmorphic%20disorder
correct
Record 2, Abbreviations, English
- BDD 2, record 2, English, BDD
correct
Record 2, Synonyms, English
- body dysmorphia 3, record 2, English, body%20dysmorphia
correct
- dysmorphia 3, record 2, English, dysmorphia
correct
- dysmorphophobia 4, record 2, English, dysmorphophobia
correct, obsolete
Record 2, Textual support, English
Record number: 2, Textual support number: 1 CONT
Individuals with body dysmorphic disorder (formerly known as dysmorphophobia) are preoccupied with one or more perceived defects or flaws in their physical appearance, which they believe look ugly, unattractive, abnormal or deformed ... Excessive repetitive behaviors or mental acts (e.g., comparing) are performed in response to the preoccupation ... 5, record 2, English, - body%20dysmorphic%20disorder
Record 2, French
Record 2, Domaine(s)
- Névroses
- Psychologie clinique
Record 2, Main entry term, French
- trouble de dysmorphie corporelle
1, record 2, French, trouble%20de%20dysmorphie%20corporelle
correct, masculine noun
Record 2, Abbreviations, French
- TDC 2, record 2, French, TDC
correct, masculine noun
Record 2, Synonyms, French
- obsession d’une dysmorphie corporelle 3, record 2, French, obsession%20d%26rsquo%3Bune%20dysmorphie%20corporelle
correct, feminine noun
- dysmorphie corporelle 4, record 2, French, dysmorphie%20corporelle
correct, feminine noun
- dysmorphophobie 5, record 2, French, dysmorphophobie
correct, feminine noun
- peur d’une dysmorphie corporelle 6, record 2, French, peur%20d%26rsquo%3Bune%20dysmorphie%20corporelle
avoid, see observation, feminine noun, obsolete
Record 2, Textual support, French
Record number: 2, Textual support number: 1 CONT
[...] le trouble de dysmorphie corporelle(TDC) se caractérise par la présence de préoccupations excessives et récurrentes concernant l'apparence physique [...] Ces préoccupations sont habituellement imaginées, mais peuvent se baser sur un handicap présent et léger. [...] L'individu qui souffre d’un TDC fait plusieurs rituels : cacher ou masquer son handicap, se regarder constamment dans le miroir, se nettoyer excessivement, rechercher du réconfort et décider de passer au bistouri. 2, record 2, French, - trouble%20de%20dysmorphie%20corporelle
Record number: 2, Textual support number: 1 OBS
peur d’une dysmorphie corporelle : Cette désignation est à éviter, car elle ne décrit pas adéquatement le trouble. En effet, les personnes atteintes ne craignent pas de présenter un défaut physique, mais ont plutôt une perception déformée de leur apparence. 7, record 2, French, - trouble%20de%20dysmorphie%20corporelle
Record 2, Spanish
Record 2, Textual support, Spanish
Record 3 - internal organization data 2020-04-17
Record 3, English
Record 3, Subject field(s)
- Medicine and Health
Record 3, Main entry term, English
- dysmorphia
1, record 3, English, dysmorphia
correct
Record 3, Abbreviations, English
Record 3, Synonyms, English
Record 3, Textual support, English
Record number: 3, Textual support number: 1 DEF
A condition in which part of the body is a different shape from normal. 1, record 3, English, - dysmorphia
Record number: 3, Textual support number: 1 CONT
The disorder is characterized by distinctive facial dysmorphia and cardiac defects. 1, record 3, English, - dysmorphia
Record 3, French
Record 3, Domaine(s)
- Médecine et santé
Record 3, Main entry term, French
- dysmorphie
1, record 3, French, dysmorphie
correct, feminine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
- dysmorphose 1, record 3, French, dysmorphose
correct, feminine noun
Record 3, Textual support, French
Record number: 3, Textual support number: 1 DEF
Anomalie de la forme d’un organe ou autre partie du corps. 2, record 3, French, - dysmorphie
Record 3, Spanish
Record 3, Textual support, Spanish
Record 4 - internal organization data 2019-12-05
Record 4, English
Record 4, Subject field(s)
- Human Diseases - Various
- Genetics
Record 4, Main entry term, English
- Mowat–Wilson syndrome
1, record 4, English, Mowat%26ndash%3BWilson%20syndrome
correct
Record 4, Abbreviations, English
- MWS 1, record 4, English, MWS
correct
Record 4, Synonyms, English
Record 4, Textual support, English
Record number: 4, Textual support number: 1 CONT
Mowat–Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. 2, record 4, English, - Mowat%26ndash%3BWilson%20syndrome
Record 4, French
Record 4, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 4, Main entry term, French
- syndrome de Mowat-Wilson
1, record 4, French, syndrome%20de%20Mowat%2DWilson
correct, masculine noun
Record 4, Abbreviations, French
- SMW 1, record 4, French, SMW
correct, masculine noun
Record 4, Synonyms, French
Record 4, Textual support, French
Record number: 4, Textual support number: 1 CONT
Le syndrome de Mowat-Wilson(SMW) est un syndrome congénital associant une dysmorphie faciale, une maladie de Hirschsprung, des anomalies urogénitales, des malformations cardiaques, une agénésie du corps calleux et des anomalies ophtalmologiques. [...] Le SMW est dû à des mutations ou délétions du gène ZEB2. 2, record 4, French, - syndrome%20de%20Mowat%2DWilson
Record 4, Spanish
Record 4, Textual support, Spanish
Record 5 - internal organization data 2019-11-18
Record 5, English
Record 5, Subject field(s)
- Human Diseases - Various
- Genetics
Record 5, Main entry term, English
- Cohen syndrome
1, record 5, English, Cohen%20syndrome
correct
Record 5, Abbreviations, English
- CS 2, record 5, English, CS
correct
Record 5, Synonyms, English
- Pepper syndrome 3, record 5, English, Pepper%20syndrome
- Cervenka syndrome 4, record 5, English, Cervenka%20syndrome
Record 5, Textual support, English
Record number: 5, Textual support number: 1 CONT
Cohen syndrome (CS) is an autosomal recessive disorder with variability in the clinical manifestations, characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in the gene COH1 have been found in an ethnically diverse series of patients. 5, record 5, English, - Cohen%20syndrome
Record 5, French
Record 5, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 5, Main entry term, French
- syndrome de Cohen
1, record 5, French, syndrome%20de%20Cohen
correct, masculine noun
Record 5, Abbreviations, French
- SC 2, record 5, French, SC
correct, masculine noun
Record 5, Synonyms, French
Record 5, Textual support, French
Record number: 5, Textual support number: 1 DEF
[...] trouble génétique rare du développement[, à transmission autosomique récessive, ] caractérisé par une microcéphalie, une dysmorphie faciale, une hypotonie, une déficience intellectuelle non progressive, une myopie, une dystrophie rétinienne, une neutropénie et une obésité tronculaire. 3, record 5, French, - syndrome%20de%20Cohen
Record 5, Spanish
Record 5, Textual support, Spanish
Record 6 - internal organization data 2018-09-26
Record 6, English
Record 6, Subject field(s)
- Mental Disorders
- Cognitive Psychology
- Nervous System
- Drugs and Drug Addiction
Record 6, Main entry term, English
- neurobehavioral disorder associated with prenatal alcohol exposure
1, record 6, English, neurobehavioral%20disorder%20associated%20with%20prenatal%20alcohol%20exposure
correct
Record 6, Abbreviations, English
- ND-PAE 1, record 6, English, ND%2DPAE
correct
Record 6, Synonyms, English
Record 6, Textual support, English
Record number: 6, Textual support number: 1 CONT
Neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE) is a new clarifying term intended to encompass the full range of developmental disabilities associated with exposure to alcohol in utero. The current diagnostic guidelines allow ND-PAE to be diagnosed both in the absence and in the presence of the physical effects of prenatal alcohol exposure (e.g., facial dysmorphology required for a diagnosis of fetal alcohol syndrome). 1, record 6, English, - neurobehavioral%20disorder%20associated%20with%20prenatal%20alcohol%20exposure
Record 6, Key term(s)
- neurobehavioural disorder associated with prenatal alcohol exposure
- neuro-behavioral disorder associated with prenatal alcohol exposure
- neuro-behavioural disorder associated with prenatal alcohol exposure
Record 6, French
Record 6, Domaine(s)
- Troubles mentaux
- Psychologie cognitive
- Système nerveux
- Drogues et toxicomanie
Record 6, Main entry term, French
- trouble neurocomportemental associé à l’exposition prénatale à l’alcool
1, record 6, French, trouble%20neurocomportemental%20associ%C3%A9%20%C3%A0%20l%26rsquo%3Bexposition%20pr%C3%A9natale%20%C3%A0%20l%26rsquo%3Balcool
correct, masculine noun
Record 6, Abbreviations, French
- TN-EPA 1, record 6, French, TN%2DEPA
correct, masculine noun
Record 6, Synonyms, French
Record 6, Textual support, French
Record number: 6, Textual support number: 1 CONT
Le trouble neurocomportemental associé à l'exposition prénatale à l'alcool(TN-EPA) est une nouvelle appellation plus claire, destinée à englober l'éventail complet des incapacités développementales associées à l'exposition à l'alcool in utero. Les règles diagnostiques actuelles permettent de diagnostiquer le TN-EPA que ce soit en l'absence ou en la présence de manifestations physiques de l'exposition prénatale à l'alcool(p. ex. dysmorphie faciale requise pour un diagnostic de syndrome d’alcoolisation fœtale). 1, record 6, French, - trouble%20neurocomportemental%20associ%C3%A9%20%C3%A0%20l%26rsquo%3Bexposition%20pr%C3%A9natale%20%C3%A0%20l%26rsquo%3Balcool
Record 6, Key term(s)
- trouble neuro-comportemental associé à l’exposition prénatale à l’alcool
Record 6, Spanish
Record 6, Textual support, Spanish
Record 7 - internal organization data 2017-12-08
Record 7, English
Record 7, Subject field(s)
- Drugs and Drug Addiction
- Pregnancy
Record 7, Main entry term, English
- alcohol fetal effect
1, record 7, English, alcohol%20fetal%20effect
correct
Record 7, Abbreviations, English
Record 7, Synonyms, English
Record 7, Textual support, English
Record 7, Key term(s)
- alcohol foetal effect
Record 7, French
Record 7, Domaine(s)
- Drogues et toxicomanie
- Grossesse
Record 7, Main entry term, French
- effet de l’alcoolisation fœtale
1, record 7, French, effet%20de%20l%26rsquo%3Balcoolisation%20f%26oelig%3Btale
correct, masculine noun
Record 7, Abbreviations, French
Record 7, Synonyms, French
- effet de l’alcoolisation du fœtus 1, record 7, French, effet%20de%20l%26rsquo%3Balcoolisation%20du%20f%26oelig%3Btus
correct, masculine noun
Record 7, Textual support, French
Record number: 7, Textual support number: 1 CONT
Embryofoetopathie alcoolique. L'EFA ou SAF des Anglo-Saxons, encore connu sous la dénomination de syndrome de Lemoine et Jones, est l'expression la plus étendue des effets de l'alcoolisation du fœtus avec une dysmorphie craniofaciale associée à un syndrome malformatif, à un retard de croissance et à des troubles neurocomportementaux. 1, record 7, French, - effet%20de%20l%26rsquo%3Balcoolisation%20f%26oelig%3Btale
Record 7, Spanish
Record 7, Textual support, Spanish
Record 8 - internal organization data 2017-12-07
Record 8, English
Record 8, Subject field(s)
- Human Diseases - Various
- Drugs and Drug Addiction
- Pregnancy
Record 8, Main entry term, English
- fetal alcohol syndrome
1, record 8, English, fetal%20alcohol%20syndrome
correct
Record 8, Abbreviations, English
Record 8, Synonyms, English
Record 8, Textual support, English
Record number: 8, Textual support number: 1 DEF
A syndrome of altered prenatal growth and morphogenesis occurring in infants born of women who are chronically alcoholic during pregnancy. 1, record 8, English, - fetal%20alcohol%20syndrome
Record 8, Key term(s)
- foetal alcohol syndrome
- alcohol fetal sydrome
- alcohol foetal sydrome
- fetal alcoholic syndrome
- foetal alcoholic syndrome
Record 8, French
Record 8, Domaine(s)
- Maladies humaines diverses
- Drogues et toxicomanie
- Grossesse
Record 8, Main entry term, French
- syndrome d’alcoolisation fœtale
1, record 8, French, syndrome%20d%26rsquo%3Balcoolisation%20f%26oelig%3Btale
correct, see observation, masculine noun
Record 8, Abbreviations, French
Record 8, Synonyms, French
- syndrome d’intoxication fœtale à l’alcool 2, record 8, French, syndrome%20d%26rsquo%3Bintoxication%20f%26oelig%3Btale%20%C3%A0%20l%26rsquo%3Balcool
correct, see observation, masculine noun
- embryofœtopathie alcoolique 3, record 8, French, embryof%26oelig%3Btopathie%20alcoolique
correct, feminine noun
- EFA 4, record 8, French, EFA
correct, feminine noun
- EFA 4, record 8, French, EFA
- syndrome d’alcoolisme fœtal 5, record 8, French, syndrome%20d%26rsquo%3Balcoolisme%20f%26oelig%3Btal
see observation, masculine noun
- SAF 6, record 8, French, SAF
masculine noun
- SAF 6, record 8, French, SAF
- syndrome d’alcoolisme embryo-fœtal 7, record 8, French, syndrome%20d%26rsquo%3Balcoolisme%20embryo%2Df%26oelig%3Btal
avoid, see observation, masculine noun
- syndrome de Lemoine et Jones 3, record 8, French, syndrome%20de%20Lemoine%20et%20Jones
masculine noun
Record 8, Textual support, French
Record number: 8, Textual support number: 1 CONT
Embryofœtopathie alcoolique. L'EFA ou SAF des Anglo-Saxons, encore connu sous la dénomination de syndrome de Lemoine et Jones, est l'expression la plus étendue des effets de l'alcoolisation du fœtus avec une dysmorphie craniofaciale associée à un syndrome malformatif, à un retard de croissance et à des troubles neurocomportementaux. 3, record 8, French, - syndrome%20d%26rsquo%3Balcoolisation%20f%26oelig%3Btale
Record number: 8, Textual support number: 2 CONT
[La mère] était intoxiquée à l’accouchement et le nouveau-né avait de l’alcool dans le sang, il présentait des symptômes de sevrage à l’alcool et était traité pour le syndrome d’intoxication fœtale à l’alcool. 2, record 8, French, - syndrome%20d%26rsquo%3Balcoolisation%20f%26oelig%3Btale
Record number: 8, Textual support number: 1 OBS
L’expression «FAS» fut d’abord traduite en français par «syndrome d’alcoolisme fœtal». Le pédiatre français Dehaene, aujourd’hui retraité, suggère plutôt l’appellation «syndrome d’alcoolisation fœtale» plus juste en effet, le fœtus n’étant pas alcoolique, mais soumis à un processus d’alcoolisation. 1, record 8, French, - syndrome%20d%26rsquo%3Balcoolisation%20f%26oelig%3Btale
Record number: 8, Textual support number: 2 OBS
L’expression «syndrome d’intoxication fœtale à l’alcool» est moins répandue que l’expression «syndrome d’alcoolisme fœtal», mais cette dernière n’est pas à privilégier, car le syndrome dont souffre le fœtus est attribuable à l’éthylisme de la mère et non à celui de l’enfant à naître qui lui, est intoxiqué. 8, record 8, French, - syndrome%20d%26rsquo%3Balcoolisation%20f%26oelig%3Btale
Record number: 8, Textual support number: 3 OBS
L’expression «syndrome d’alcoolisme fœtal» est d’usage à Santé Canada. 9, record 8, French, - syndrome%20d%26rsquo%3Balcoolisation%20f%26oelig%3Btale
Record 8, Spanish
Record 8, Campo(s) temático(s)
- Enfermedades humanas varias
- Drogas y toxicomanía
- Embarazo
Record 8, Main entry term, Spanish
- síndrome alcohólico fetal
1, record 8, Spanish, s%C3%ADndrome%20alcoh%C3%B3lico%20fetal
correct, masculine noun
Record 8, Abbreviations, Spanish
- SAF 2, record 8, Spanish, SAF
correct, masculine noun
Record 8, Synonyms, Spanish
Record 8, Textual support, Spanish
Record number: 8, Textual support number: 1 DEF
Estado que se produce en fetos o recién nacidos, debido a la exposición intrauterina a etanol cuando la madre ha consumido alcohol durante el embarazo. 3, record 8, Spanish, - s%C3%ADndrome%20alcoh%C3%B3lico%20fetal
Record number: 8, Textual support number: 1 OBS
Se caracteriza por un conjunto de defectos congénitos irreversibles, incluyendo las anomalías en el desarrollo físico, mental y del comportamiento (como retardo del crecimiento fetal, retraso mental, déficit de la atención y trastornos de conducta disruptiva) con grados variables de gravedad en los individuos. 3, record 8, Spanish, - s%C3%ADndrome%20alcoh%C3%B3lico%20fetal
Record 9 - internal organization data 2017-10-17
Record 9, English
Record 9, Subject field(s)
- Neuroses
- Psychology (General)
Record 9, Main entry term, English
- muscle dysmorphia
1, record 9, English, muscle%20dysmorphia
correct
Record 9, Abbreviations, English
- MDM 2, record 9, English, MDM
correct
Record 9, Synonyms, English
- bigorexia 3, record 9, English, bigorexia
correct
- reverse anorexia 2, record 9, English, reverse%20anorexia
correct
- muscle dysmorphic disorder 4, record 9, English, muscle%20dysmorphic%20disorder
correct
- MDD 4, record 9, English, MDD
correct
- MDD 4, record 9, English, MDD
Record 9, Textual support, English
Record number: 9, Textual support number: 1 DEF
... a form of body dysmorphic disorder occurring almost exclusively in males [that] consists of preoccupation with the idea that one's body is too small or insufficiently lean or muscular. 5, record 9, English, - muscle%20dysmorphia
Record number: 9, Textual support number: 1 OBS
Individuals with this form of the disorder actually have a normal-looking body or are even very muscular. 5, record 9, English, - muscle%20dysmorphia
Record 9, French
Record 9, Domaine(s)
- Névroses
- Psychologie (Généralités)
Record 9, Main entry term, French
- dysmorphie musculaire
1, record 9, French, dysmorphie%20musculaire
correct, feminine noun
Record 9, Abbreviations, French
Record 9, Synonyms, French
- bigorexie 1, record 9, French, bigorexie
correct, feminine noun
- anorexie inversée 2, record 9, French, anorexie%20invers%C3%A9e
correct, feminine noun
Record 9, Textual support, French
Record number: 9, Textual support number: 1 DEF
Trouble de dysmorphie corporelle touchant principalement les hommes qui est caractérisé par une préoccupation concernant l'idée que son corps n’ est pas suffisamment mince ou musclé. 3, record 9, French, - dysmorphie%20musculaire
Record 9, Spanish
Record 9, Textual support, Spanish
Record 10 - internal organization data 2017-05-12
Record 10, English
Record 10, Subject field(s)
- Genetics
Record 10, Main entry term, English
- Rieger syndrome
1, record 10, English, Rieger%20syndrome
correct
Record 10, Abbreviations, English
Record 10, Synonyms, English
Record 10, Textual support, English
Record number: 10, Textual support number: 1 CONT
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. 1, record 10, English, - Rieger%20syndrome
Record number: 10, Textual support number: 2 CONT
IOWA CITY, Iowa -- University of Iowa College of Medicine investigators have identified the gene behind Rieger syndrome, a rare condition that causes glaucoma and other health problems. They hope the findings, reported in the December issue of Nature Genetics, will shed light on the causes of other, more common disorders. 2, record 10, English, - Rieger%20syndrome
Record 10, French
Record 10, Domaine(s)
- Génétique
Record 10, Main entry term, French
- syndrome de Rieger
1, record 10, French, syndrome%20de%20Rieger
correct, masculine noun
Record 10, Abbreviations, French
Record 10, Synonyms, French
Record 10, Textual support, French
Record number: 10, Textual support number: 1 CONT
Le syndrome de Rieger est une maladie autosomique dominante connue depuis une centaine d’années [...] caractérisée par des anomalies de la chambre antérieure de l'œil, une hypoplasie dentaire, une dysmorphie crânio-faciale caractéristique et une hernie ombilicale. Des signes secondaires et inconstants vinrent compléter le tableau clinique : sténose anale, atrésie des choanes, retard de croissance et, plus rarement, retard mental. 1, record 10, French, - syndrome%20de%20Rieger
Record 10, Spanish
Record 10, Textual support, Spanish
Record 11 - internal organization data 2012-07-05
Record 11, English
Record 11, Subject field(s)
- Genetics
- Visual Disorders
Record 11, Main entry term, English
- ocular hypertelorism
1, record 11, English, ocular%20hypertelorism
correct
Record 11, Abbreviations, English
Record 11, Synonyms, English
- orbital hypertelorism 1, record 11, English, orbital%20hypertelorism
Record 11, Textual support, English
Record number: 11, Textual support number: 1 DEF
An abnormal increase in the intraorbital distance. 1, record 11, English, - ocular%20hypertelorism
Record 11, French
Record 11, Domaine(s)
- Génétique
- Troubles de la vision
Record 11, Main entry term, French
- hypertélorisme oculaire
1, record 11, French, hypert%C3%A9lorisme%20oculaire
correct, masculine noun
Record 11, Abbreviations, French
Record 11, Synonyms, French
Record 11, Textual support, French
Record number: 11, Textual support number: 1 DEF
Élargissement anormal de l’espace interoculaire, d’origine congénitale ou acquise. 2, record 11, French, - hypert%C3%A9lorisme%20oculaire
Record number: 11, Textual support number: 1 CONT
Dysmorphie crâniofaciale : l'hypertélorisme, l'épicanthus, le prognathisme, le strabisme sont signalés dans le mosaïcisme où prédomine la lignée XXXXY et très rares dans les observations où prédomine la lignée XXXY. 2, record 11, French, - hypert%C3%A9lorisme%20oculaire
Record 11, Spanish
Record 11, Campo(s) temático(s)
- Genética
- Trastornos de la visión
Record 11, Main entry term, Spanish
- hipertelorismo ocular
1, record 11, Spanish, hipertelorismo%20ocular
correct, masculine noun
Record 11, Abbreviations, Spanish
Record 11, Synonyms, Spanish
- hipertelorismo orbitario 1, record 11, Spanish, hipertelorismo%20orbitario
correct, masculine noun
Record 11, Textual support, Spanish
Record number: 11, Textual support number: 1 DEF
Aumento de la distancia interorbitaria generalmente en asociación con disostosis cleidocraneal o craneofacial y posible déficit mental. 1, record 11, Spanish, - hipertelorismo%20ocular
Record 12 - internal organization data 2011-07-11
Record 12, English
Record 12, Subject field(s)
- Symptoms (Medicine)
- Musculoskeletal System
Record 12, Main entry term, English
- craniostenosis
1, record 12, English, craniostenosis
correct
Record 12, Abbreviations, English
Record 12, Synonyms, English
Record 12, Textual support, English
Record number: 12, Textual support number: 1 DEF
Deformity of the skull caused by premature fusion of the cranial sutures, with consequent cessation of growth. The nature of the deformity depends on the sutures involved in the process. 2, record 12, English, - craniostenosis
Record 12, French
Record 12, Domaine(s)
- Symptômes (Médecine)
- Appareil locomoteur (Médecine)
Record 12, Main entry term, French
- craniosténose
1, record 12, French, craniost%C3%A9nose
correct, feminine noun
Record 12, Abbreviations, French
Record 12, Synonyms, French
- craniosynostose 2, record 12, French, craniosynostose
correct, feminine noun
Record 12, Textual support, French
Record number: 12, Textual support number: 1 DEF
Malformation crânienne due à la fermeture prématurée des sutures, entraînant une dysmorphie craniofaciale variable selon la suture atteinte(la croissance osseuse étant arrêtée dans le sens perpendiculaire à la suture), et une hypertension intracrânienne responsable de troubles psychiques et oculaires. 1, record 12, French, - craniost%C3%A9nose
Record 12, Spanish
Record 12, Campo(s) temático(s)
- Síntomas (Medicina)
- Sistema musculoesquelético (Medicina)
Record 12, Main entry term, Spanish
- craneostenosis
1, record 12, Spanish, craneostenosis
correct, feminine noun
Record 12, Abbreviations, Spanish
Record 12, Synonyms, Spanish
Record 12, Textual support, Spanish
Record 13 - internal organization data 2011-03-22
Record 13, English
Record 13, Subject field(s)
- Genetics
Record 13, Main entry term, English
- turtle-like upper lip 1, record 13, English, turtle%2Dlike%20upper%20lip
Record 13, Abbreviations, English
Record 13, Synonyms, English
Record 13, Textual support, English
Record number: 13, Textual support number: 1 DEF
Mouth, the lower lip of which is straight and the upper lip of which stands at an acute angle so that the mouth seems to be triangular. 1, record 13, English, - turtle%2Dlike%20upper%20lip
Record number: 13, Textual support number: 1 CONT
(Trisomy 10p) The triangularly shaped mouth with a "turtle-like" upper lip observed in case 1, is a sign to have in mind for further patients. 1, record 13, English, - turtle%2Dlike%20upper%20lip
Record 13, French
Record 13, Domaine(s)
- Génétique
Record 13, Main entry term, French
- bouche en tortue
1, record 13, French, bouche%20en%20tortue
feminine noun
Record 13, Abbreviations, French
Record 13, Synonyms, French
Record 13, Textual support, French
Record number: 13, Textual support number: 1 DEF
Bouche dont la lèvre inférieure est droite, et la lèvre supérieure réalise un angle aigu de telle façon que la bouche apparaît triangulaire. 1, record 13, French, - bouche%20en%20tortue
Record number: 13, Textual support number: 1 CONT
(Deux cas de trisomie 10p partielle) Malgré cette divergence cytologique, il existe, chez les patients, un ensemble morbide commun associant : une dysmorphie crânio-faciale : trop grand développement de la loge antérieure du crâne par rapport à la face : front haut, bombé et recouvert de duvet; ensellure nasale saillante; implantation basse des oreilles; bouche triangulaire «en tortue». 1, record 13, French, - bouche%20en%20tortue
Record 13, Spanish
Record 13, Textual support, Spanish
Record 14 - internal organization data 2010-04-20
Record 14, English
Record 14, Subject field(s)
- Genetics
Record 14, Main entry term, English
- Williams syndrome 1, record 14, English, Williams%20syndrome
Record 14, Abbreviations, English
- WS 2, record 14, English, WS
correct
Record 14, Synonyms, English
Record 14, Textual support, English
Record number: 14, Textual support number: 1 DEF
Williams syndrome is a rare genetic condition (estimated to occur in 1/20,000 births) which cause medical and developmental problems. 3, record 14, English, - Williams%20syndrome
Record 14, French
Record 14, Domaine(s)
- Génétique
Record 14, Main entry term, French
- syndrome de Williams
1, record 14, French, syndrome%20de%20Williams
correct, masculine noun
Record 14, Abbreviations, French
Record 14, Synonyms, French
Record 14, Textual support, French
Record number: 14, Textual support number: 1 CONT
Le syndrome de Williams, WS est un trouble du développement [...] qui associe habituellement un dysmorphie faciale caractéristique, une cardiopathie congénitale(sténose aortique supravalvulaire ou SVAS), un comportement jovial et une atteinte très spécifique des fonctions cognitives visuospatiales, associée en général à une déficience mentale plus globale. 1, record 14, French, - syndrome%20de%20Williams
Record 14, Spanish
Record 14, Textual support, Spanish
Record 15 - internal organization data 1998-03-03
Record 15, English
Record 15, Subject field(s)
- Nervous System
Record 15, Main entry term, English
- progeria
1, record 15, English, progeria
correct
Record 15, Abbreviations, English
Record 15, Synonyms, English
- Hutchinson-Gilford disease 1, record 15, English, Hutchinson%2DGilford%20disease
correct
- Hutchinson-Gilford syndrome 1, record 15, English, Hutchinson%2DGilford%20syndrome
correct
- premature senile syndrome 1, record 15, English, premature%20senile%20syndrome
correct
Record 15, Textual support, English
Record number: 15, Textual support number: 1 DEF
A condition in which normal development in the first year is followed by gross retardation of growth, with a senile appearance characterized by dry wrinkled skin, total alopecia, and bird-like facies. 1, record 15, English, - progeria
Record 15, French
Record 15, Domaine(s)
- Système nerveux
Record 15, Main entry term, French
- progeria
1, record 15, French, progeria
correct, feminine noun
Record 15, Abbreviations, French
Record 15, Synonyms, French
- progérie 1, record 15, French, prog%C3%A9rie
correct, feminine noun
- syndrome de Gilford 1, record 15, French, syndrome%20de%20Gilford
correct, masculine noun
- syndrome d’Hutchinson-Gilford 1, record 15, French, syndrome%20d%26rsquo%3BHutchinson%2DGilford
correct, masculine noun
Record 15, Textual support, French
Record number: 15, Textual support number: 1 DEF
Variété rare de nanisme essentiel, s’accompagnant d’un aspect sénile dès les premières années de la vie(calvitie, hypotricose, atrophie cutanée et des phanères, dénutrition) associé à une dysmorphie faciale en «tête d’oiseau», une cyphoscoliose, une atrophie des organes génitaux externes, et une athérosclérose précoce, entraînant la mort vers l'âge de 15 ans. 1, record 15, French, - progeria
Record 15, Spanish
Record 15, Campo(s) temático(s)
- Sistema nervioso
Record 15, Main entry term, Spanish
- progeria
1, record 15, Spanish, progeria
correct, feminine noun
Record 15, Abbreviations, Spanish
Record 15, Synonyms, Spanish
Record 15, Textual support, Spanish
Record number: 15, Textual support number: 1 DEF
Envejecimiento prematuro acompañado de un cuadro de arteriosclerosis precoz y acelerada, que se hereda de manera autosómica recesiva. 1, record 15, Spanish, - progeria
Record 16 - internal organization data 1990-06-21
Record 16, English
Record 16, Subject field(s)
- Symptoms (Medicine)
- Musculoskeletal System
Record 16, Main entry term, English
- bird-headed dwarfism
1, record 16, English, bird%2Dheaded%20dwarfism
correct
Record 16, Abbreviations, English
Record 16, Synonyms, English
- Seckel's syndrome 2, record 16, English, Seckel%27s%20syndrome
correct
Record 16, Textual support, English
Record number: 16, Textual support number: 1 DEF
A congenital disorder, possibly due to various causes, characterized by low birth weight, marked but proportionate shortness of stature, a proportionately small head, hypoplasia of the maxilla and mandible with beak-like protrusion of the nose, mental retardation, and a variety of other skeletal, cutaneous and genital anomalies. 1, record 16, English, - bird%2Dheaded%20dwarfism
Record 16, French
Record 16, Domaine(s)
- Symptômes (Médecine)
- Appareil locomoteur (Médecine)
Record 16, Main entry term, French
- nanisme à tête d’oiseau
1, record 16, French, nanisme%20%C3%A0%20t%C3%AAte%20d%26rsquo%3Boiseau
correct, masculine noun
Record 16, Abbreviations, French
Record 16, Synonyms, French
Record 16, Textual support, French
Record number: 16, Textual support number: 1 DEF
Variété rare du nanisme essentiel à début intra-utérin, caractérisée par une dysmorphie faciale particulière en "tête d’oiseau"(microcéphalie, hypoplasie des maxillaires, rétrognathisme, nez "en bec d’oiseau", implantation basse des oreilles). Il peut s’y associer des anomalies du palais, des dents, des doigts, et un retard mental. 1, record 16, French, - nanisme%20%C3%A0%20t%C3%AAte%20d%26rsquo%3Boiseau
Record 16, Spanish
Record 16, Campo(s) temático(s)
- Síntomas (Medicina)
- Sistema musculoesquelético (Medicina)
Record 16, Main entry term, Spanish
- enanismo en cabeza de pájaro
1, record 16, Spanish, enanismo%20en%20cabeza%20de%20p%C3%A1jaro
correct, masculine noun
Record 16, Abbreviations, Spanish
Record 16, Synonyms, Spanish
- enanismo de Seckel 1, record 16, Spanish, enanismo%20de%20Seckel
correct, masculine noun
Record 16, Textual support, Spanish
Record 17 - internal organization data 1990-06-21
Record 17, English
Record 17, Subject field(s)
- Symptoms (Medicine)
- Musculoskeletal System
Record 17, Main entry term, English
- leprechaunism
1, record 17, English, leprechaunism
correct
Record 17, Abbreviations, English
Record 17, Synonyms, English
- Donohue's syndrome 2, record 17, English, Donohue%27s%20syndrome
correct
Record 17, Textual support, English
Record number: 17, Textual support number: 1 DEF
An exceedingly rare and lethal familial condition marked by slow development both physically and mentally, by elfin facies (wide-set eyes and low-set ears, with hirsutism), as suggested by the name, and by severe endocrine disorders, as indicated by enlargement of the clitoris and breasts in females and of the phallus in males. 1, record 17, English, - leprechaunism
Record 17, French
Record 17, Domaine(s)
- Symptômes (Médecine)
- Appareil locomoteur (Médecine)
Record 17, Main entry term, French
- lepréchaunisme
1, record 17, French, lepr%C3%A9chaunisme
correct, masculine noun
Record 17, Abbreviations, French
Record 17, Synonyms, French
- syndrome de Donohue 2, record 17, French, syndrome%20de%20Donohue
correct, masculine noun
- nanisme à tête de gnome 2, record 17, French, nanisme%20%C3%A0%20t%C3%AAte%20de%20gnome
correct, masculine noun
Record 17, Textual support, French
Record number: 17, Textual support number: 1 DEF
Variété de nanisme essentiel associant une dysmorphie caractéristique("faciès de gnome" : aspect de vieillard, nez épaté et retroussé, hypertélorisme, proéminence des arcades orbitaires, implantation basse des oreilles, macroglossie), une cachexie extrême, un retard mental, un hirsutisme, parfois une hypertrophie des mamelons et des organes génitaux externes, une hypoglycémie et des calcifications viscérales. La nature génétique de l'affection est probable, mais non élucidée. 1, record 17, French, - lepr%C3%A9chaunisme
Record 17, Spanish
Record 17, Campo(s) temático(s)
- Síntomas (Medicina)
- Sistema musculoesquelético (Medicina)
Record 17, Main entry term, Spanish
- leprechaunismo
1, record 17, Spanish, leprechaunismo
correct, masculine noun
Record 17, Abbreviations, Spanish
Record 17, Synonyms, Spanish
- síndrome de Donohue 1, record 17, Spanish, s%C3%ADndrome%20de%20Donohue
correct, masculine noun
Record 17, Textual support, Spanish
Record 18 - internal organization data 1990-02-05
Record 18, English
Record 18, Subject field(s)
- Symptoms (Medicine)
- Musculoskeletal System
Record 18, Main entry term, English
- hurloid facies
1, record 18, English, hurloid%20facies
correct
Record 18, Abbreviations, English
Record 18, Synonyms, English
- gargoyle appearance 2, record 18, English, gargoyle%20appearance
correct
Record 18, Textual support, English
Record number: 18, Textual support number: 1 DEF
The coarse gargoyle-like facial appearance characteristically seen in the mucopolysaccharidoses and mucolipidoses. 1, record 18, English, - hurloid%20facies
Record number: 18, Textual support number: 1 OBS
The head is large with frontal bossing, and due to maldevelopment of nasal passages, there is stertorous breathing and chronic upper respiratory infection with developing deafness. 3, record 18, English, - hurloid%20facies
Record 18, French
Record 18, Domaine(s)
- Symptômes (Médecine)
- Appareil locomoteur (Médecine)
Record 18, Main entry term, French
- faciès en gargouille
1, record 18, French, faci%C3%A8s%20en%20gargouille
correct, masculine noun
Record 18, Abbreviations, French
Record 18, Synonyms, French
- faciès de gargouille 2, record 18, French, faci%C3%A8s%20de%20gargouille
correct, masculine noun
Record 18, Textual support, French
Record number: 18, Textual support number: 1 CONT
[...] la maladie de Hurler ou gargoylisme est caractérisée par une dysmorphie faciale(faciès en gargouille), diverses altérations morphologiques des membres et du rachis [...] réalisant un nanisme dysostosique et une idiotie. 1, record 18, French, - faci%C3%A8s%20en%20gargouille
Record number: 18, Textual support number: 1 OBS
Les anomalies du crâne et de la face, dont l’aspect rappelle celui des gargouilles moyenâgeuses, consistent en : gros crâne déformé, faciès grotesque avec front très saillant, sourcils épais, nez large et aplati, lèvres épaisses, bajoues. 2, record 18, French, - faci%C3%A8s%20en%20gargouille
Record 18, Spanish
Record 18, Campo(s) temático(s)
- Síntomas (Medicina)
- Sistema musculoesquelético (Medicina)
Record 18, Main entry term, Spanish
- facies de gárgola
1, record 18, Spanish, facies%20de%20g%C3%A1rgola
feminine noun
Record 18, Abbreviations, Spanish
Record 18, Synonyms, Spanish
Record 18, Textual support, Spanish
Record 19 - internal organization data 1990-02-05
Record 19, English
Record 19, Subject field(s)
- Symptoms (Medicine)
- Musculoskeletal System
Record 19, Main entry term, English
- fetal face
1, record 19, English, fetal%20face
correct
Record 19, Abbreviations, English
Record 19, Synonyms, English
Record 19, Textual support, English
Record number: 19, Textual support number: 1 DEF
A face characterized by a disproportionately large neurocranium, hypertelorism and a short up-turned nose, seen in Robinow's syndrome 2, record 19, English, - fetal%20face
Record number: 19, Textual support number: 1 OBS
Definition from WYSKE, 1985, p. 220. 3, record 19, English, - fetal%20face
Record 19, French
Record 19, Domaine(s)
- Symptômes (Médecine)
- Appareil locomoteur (Médecine)
Record 19, Main entry term, French
- faciès foetal
1, record 19, French, faci%C3%A8s%20foetal
correct, masculine noun
Record 19, Abbreviations, French
Record 19, Synonyms, French
Record 19, Textual support, French
Record number: 19, Textual support number: 1 CONT
Dans le syndrome de Robinow [...] les os de l'avant-bras sont surtout intéressés et des troubles de la segmentation rachidienne sont présents. D'autre part, les enfants ainsi atteints ont une dysmorphie du visage :"faciès foetal" et une hypoplasie de la verge. 1, record 19, French, - faci%C3%A8s%20foetal
Record 19, Spanish
Record 19, Campo(s) temático(s)
- Síntomas (Medicina)
- Sistema musculoesquelético (Medicina)
Record 19, Main entry term, Spanish
- facies fetal
1, record 19, Spanish, facies%20fetal
feminine noun
Record 19, Abbreviations, Spanish
Record 19, Synonyms, Spanish
Record 19, Textual support, Spanish
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