Titre : Malformations et maladies congénitales, héréditaires et néonatales

Malformations et maladies congénitales, héréditaires et néonatales : Questions médicales fréquentes

Questions fréquentes et termes MeSH associés

Diagnostic 5

#1

Comment diagnostiquer une malformation congénitale ?

Le diagnostic se fait par échographie prénatale, examens cliniques et tests génétiques.
Malformations congénitales Diagnostic prénatal
#2

Quels tests génétiques sont utilisés ?

Les tests incluent l'analyse chromosomique et le séquençage de l'ADN pour détecter des anomalies.
Tests génétiques Anomalies chromosomiques
#3

Quand effectuer un dépistage néonatal ?

Le dépistage néonatal est recommandé dans les premiers jours de vie pour identifier des maladies.
Dépistage néonatal Maladies héréditaires
#4

Quels signes cliniques indiquent une maladie congénitale ?

Des signes comme des malformations physiques, des retards de développement ou des troubles métaboliques.
Signes cliniques Retard de développement
#5

L'échographie peut-elle détecter toutes les malformations ?

Non, certaines malformations peuvent ne pas être visibles à l'échographie standard.
Échographie Malformations congénitales

Symptômes 5

#1

Quels sont les symptômes d'une malformation cardiaque congénitale ?

Les symptômes incluent cyanose, essoufflement, fatigue et difficultés d'alimentation.
Malformations cardiaques Cyanose
#2

Comment se manifestent les maladies héréditaires ?

Elles peuvent se manifester par des symptômes variés comme des douleurs, des troubles cognitifs ou des anomalies physiques.
Maladies héréditaires Troubles cognitifs
#3

Quels symptômes sont associés aux malformations du tube neural ?

Les symptômes incluent des anomalies de la colonne vertébrale et des troubles neurologiques.
Malformations du tube neural Troubles neurologiques
#4

Quels signes indiquent une maladie métabolique congénitale ?

Des signes comme des vomissements, une hypoglycémie ou un retard de croissance peuvent apparaître.
Maladies métaboliques Retard de croissance
#5

Les malformations congénitales peuvent-elles être asymptomatiques ?

Oui, certaines malformations peuvent ne pas présenter de symptômes visibles à la naissance.
Malformations congénitales Asymptomatique

Prévention 5

#1

Comment prévenir les malformations congénitales ?

La prévention inclut une bonne nutrition, la prise d'acide folique et l'évitement de substances nocives.
Prévention Acide folique
#2

Le dépistage prénatal aide-t-il à prévenir les malformations ?

Oui, le dépistage permet d'identifier les risques et de prendre des mesures préventives.
Dépistage prénatal Mesures préventives
#3

Les vaccinations peuvent-elles prévenir des maladies congénitales ?

Certaines vaccinations, comme celle contre la rubéole, peuvent réduire le risque de malformations.
Vaccinations Rubéole
#4

Quel rôle joue l'environnement dans la prévention ?

Éviter les toxines environnementales et les infections peut réduire le risque de malformations.
Environnement Toxines
#5

Les antécédents familiaux influencent-ils la prévention ?

Oui, des antécédents familiaux de maladies génétiques peuvent nécessiter un suivi médical accru.
Antécédents familiaux Suivi médical

Traitements 5

#1

Quels traitements existent pour les malformations congénitales ?

Les traitements varient de la chirurgie à la thérapie médicamenteuse, selon la malformation.
Chirurgie Thérapie médicamenteuse
#2

Comment traiter une maladie génétique ?

Le traitement peut inclure des médicaments, des thérapies géniques ou des interventions chirurgicales.
Thérapie génique Interventions chirurgicales
#3

Les malformations peuvent-elles nécessiter une intervention précoce ?

Oui, certaines malformations nécessitent une intervention précoce pour éviter des complications.
Intervention précoce Complications
#4

Quelles sont les options pour les malformations orthopédiques ?

Les options incluent la physiothérapie, les orthèses et parfois la chirurgie corrective.
Malformations orthopédiques Physiothérapie
#5

Les traitements sont-ils toujours efficaces ?

L'efficacité des traitements dépend de la malformation et de la rapidité de l'intervention.
Efficacité des traitements Malformations

Complications 5

#1

Quelles complications peuvent survenir avec les malformations congénitales ?

Les complications incluent des infections, des retards de développement et des problèmes respiratoires.
Complications Retards de développement
#2

Les malformations peuvent-elles entraîner des problèmes psychologiques ?

Oui, les enfants avec des malformations peuvent développer des problèmes d'estime de soi et d'anxiété.
Problèmes psychologiques Estime de soi
#3

Comment les malformations affectent-elles la qualité de vie ?

Elles peuvent limiter les activités quotidiennes et nécessiter des soins médicaux constants.
Qualité de vie Soins médicaux
#4

Les complications sont-elles toujours évitables ?

Non, certaines complications peuvent survenir malgré un traitement approprié et une surveillance.
Complications Surveillance médicale
#5

Les malformations congénitales augmentent-elles le risque de mortalité ?

Certaines malformations graves peuvent augmenter le risque de mortalité infantile.
Mortalité infantile Malformations graves

Facteurs de risque 5

#1

Quels sont les facteurs de risque pour les malformations congénitales ?

Les facteurs incluent des antécédents familiaux, l'âge maternel avancé et l'exposition à des toxines.
Facteurs de risque Toxines
#2

L'alcool pendant la grossesse est-il un facteur de risque ?

Oui, la consommation d'alcool peut entraîner des malformations congénitales, comme le syndrome d'alcoolisme fœtal.
Syndrome d'alcoolisme fœtal Consommation d'alcool
#3

Les infections maternelles influencent-elles le risque ?

Certaines infections, comme la rubéole, peuvent augmenter le risque de malformations congénitales.
Infections maternelles Rubéole
#4

Le diabète maternel est-il un facteur de risque ?

Oui, le diabète mal contrôlé peut augmenter le risque de malformations congénitales chez le fœtus.
Diabète maternel Malformations congénitales
#5

Les médicaments peuvent-ils être des facteurs de risque ?

Oui, certains médicaments pris pendant la grossesse peuvent entraîner des malformations congénitales.
Médicaments Malformations congénitales
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sont utilisés ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Les tests incluent l'analyse chromosomique et le séquençage de l'ADN pour détecter des anomalies." } }, { "@type": "Question", "name": "Quand effectuer un dépistage néonatal ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Le dépistage néonatal est recommandé dans les premiers jours de vie pour identifier des maladies." } }, { "@type": "Question", "name": "Quels signes cliniques indiquent une maladie congénitale ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Des signes comme des malformations physiques, des retards de développement ou des troubles métaboliques." } }, { "@type": "Question", "name": "L'échographie peut-elle détecter toutes les malformations ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Non, certaines malformations peuvent ne pas être visibles à l'échographie standard." } }, { "@type": "Question", "name": "Quels sont les symptômes d'une malformation cardiaque congénitale ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent cyanose, essoufflement, fatigue et difficultés d'alimentation." } }, { "@type": "Question", "name": "Comment se manifestent les maladies héréditaires ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Elles peuvent se manifester par des symptômes variés comme des douleurs, des troubles cognitifs ou des anomalies physiques." } }, { "@type": "Question", "name": "Quels symptômes sont associés aux malformations du tube neural ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des anomalies de la colonne vertébrale et des troubles neurologiques." } }, { "@type": "Question", "name": "Quels signes indiquent une maladie métabolique congénitale ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Des signes comme des vomissements, une hypoglycémie ou un retard de croissance peuvent apparaître." } }, { "@type": "Question", "name": "Les malformations congénitales peuvent-elles être asymptomatiques ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines malformations peuvent ne pas présenter de symptômes visibles à la naissance." } }, { "@type": "Question", "name": "Comment prévenir les malformations congénitales ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "La prévention inclut une bonne nutrition, la prise d'acide folique et l'évitement de substances nocives." } }, { "@type": "Question", "name": "Le dépistage prénatal aide-t-il à prévenir les malformations ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage permet d'identifier les risques et de prendre des mesures préventives." } }, { "@type": "Question", "name": "Les vaccinations peuvent-elles prévenir des maladies congénitales ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Certaines vaccinations, comme celle contre la rubéole, peuvent réduire le risque de malformations." } }, { "@type": "Question", "name": "Quel rôle joue l'environnement dans la prévention ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Éviter les toxines environnementales et les infections peut réduire le risque de malformations." } }, { "@type": "Question", "name": "Les antécédents familiaux influencent-ils la prévention ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des antécédents familiaux de maladies génétiques peuvent nécessiter un suivi médical accru." } }, { "@type": "Question", "name": "Quels traitements existent pour les malformations congénitales ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements varient de la chirurgie à la thérapie médicamenteuse, selon la malformation." } }, { "@type": "Question", "name": "Comment traiter une maladie génétique ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement peut inclure des médicaments, des thérapies géniques ou des interventions chirurgicales." } }, { "@type": "Question", "name": "Les malformations peuvent-elles nécessiter une intervention précoce ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines malformations nécessitent une intervention précoce pour éviter des complications." } }, { "@type": "Question", "name": "Quelles sont les options pour les malformations orthopédiques ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Les options incluent la physiothérapie, les orthèses et parfois la chirurgie corrective." } }, { "@type": "Question", "name": "Les traitements sont-ils toujours efficaces ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "L'efficacité des traitements dépend de la malformation et de la rapidité de l'intervention." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec les malformations congénitales ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des infections, des retards de développement et des problèmes respiratoires." } }, { "@type": "Question", "name": "Les malformations peuvent-elles entraîner des problèmes psychologiques ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les enfants avec des malformations peuvent développer des problèmes d'estime de soi et d'anxiété." } }, { "@type": "Question", "name": "Comment les malformations affectent-elles la qualité de vie ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Elles peuvent limiter les activités quotidiennes et nécessiter des soins médicaux constants." } }, { "@type": "Question", "name": "Les complications sont-elles toujours évitables ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Non, certaines complications peuvent survenir malgré un traitement approprié et une surveillance." } }, { "@type": "Question", "name": "Les malformations congénitales augmentent-elles le risque de mortalité ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Certaines malformations graves peuvent augmenter le risque de mortalité infantile." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque pour les malformations congénitales ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent des antécédents familiaux, l'âge maternel avancé et l'exposition à des toxines." } }, { "@type": "Question", "name": "L'alcool pendant la grossesse est-il un facteur de risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la consommation d'alcool peut entraîner des malformations congénitales, comme le syndrome d'alcoolisme fœtal." } }, { "@type": "Question", "name": "Les infections maternelles influencent-elles le risque ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Certaines infections, comme la rubéole, peuvent augmenter le risque de malformations congénitales." } }, { "@type": "Question", "name": "Le diabète maternel est-il un facteur de risque ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le diabète mal contrôlé peut augmenter le risque de malformations congénitales chez le fœtus." } }, { "@type": "Question", "name": "Les médicaments peuvent-ils être des facteurs de risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains médicaments pris pendant la grossesse peuvent entraîner des malformations congénitales." } } ] } ] }
Dr Olivier Menir

Contenu validé par Dr Olivier Menir

Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale


Validation scientifique effectuée le 12/11/2024

Contenu vérifié selon les dernières recommandations médicales

Sous-catégories

407 au total
└─

Malformations

Congenital Abnormalities D000013 - C16.131
└─

Maladies foetales

Fetal Diseases D005315 - C16.300
└─

Maladies génétiques congénitales

Genetic Diseases, Inborn D030342 - C16.320
└─

Maladies néonatales

Infant, Newborn, Diseases D007232 - C16.614
└─└─

Malformations dues aux médicaments et aux drogues

Abnormalities, Drug-Induced D000014 - C16.131.042
└─└─

Malformations multiples

Abnormalities, Multiple D000015 - C16.131.077
└─└─

Malformations graves

Abnormalities, Severe Teratoid D009008 - C16.131.085
└─└─

Malformations cardiovasculaires

Cardiovascular Abnormalities D018376 - C16.131.240
└─└─

Microtie congénitale

Congenital Microtia D065817 - C16.131.287
└─└─

Malformations de l'appareil digestif

Digestive System Abnormalities D004065 - C16.131.314
└─└─

Malformations oculaires

Eye Abnormalities D005124 - C16.131.384
└─└─

Malformations lymphatiques

Lymphatic Abnormalities D044148 - C16.131.482
└─└─

Malformations de l'appareil locomoteur

Musculoskeletal Abnormalities D009139 - C16.131.621
└─└─

Malformations du système nerveux

Nervous System Malformations D009421 - C16.131.666
└─└─

Malformations de l'appareil respiratoire

Respiratory System Abnormalities D015619 - C16.131.740
└─└─

Situs inversus

Situs Inversus D012857 - C16.131.810
└─└─

Malformations du système stomatognathique

Stomatognathic System Abnormalities D018640 - C16.131.850
└─└─

Malformations urogénitales

Urogenital Abnormalities D014564 - C16.131.939
└─└─

Chorioamnionite

Chorioamnionitis D002821 - C16.300.030
└─└─

Intestin échogène

Echogenic Bowel D058535 - C16.300.050
└─└─

Circulaire du cordon ombilical

Nuchal Cord D053589 - C16.300.790
└─└─

Pyélectasie

Pyelectasis D058536 - C16.300.895
└─└─

Syndrome d'Alagille

Alagille Syndrome D016738 - C16.320.051
└─└─

Anémie hémolytique congénitale

Anemia, Hemolytic, Congenital D000745 - C16.320.070
└─└─

Anémie hypoplasique congénitale

Anemia, Hypoplastic, Congenital D029502 - C16.320.077
└─└─

Troubles héréditaires de la coagulation sanguine

Blood Coagulation Disorders, Inherited D025861 - C16.320.099
└─└─

Syndrome de Brugada

Brugada Syndrome D053840 - C16.320.100
└─└─

Syndrome de Camurati-Engelmann

Camurati-Engelmann Syndrome D003966 - C16.320.144
└─└─

Cardiomyopathie hypertrophique familiale

Cardiomyopathy, Hypertrophic, Familial D024741 - C16.320.160
└─└─

Chérubinisme

Cherubism D002636 - C16.320.170
└─└─

Maladies chromosomiques

Chromosome Disorders D025063 - C16.320.180
└─└─

Ciliopathies

Ciliopathies D000072661 - C16.320.184
└─└─

Syndrome de Costello

Costello Syndrome D056685 - C16.320.188
└─└─

Maladies héréditaires de l'oeil

Eye Diseases, Hereditary D015785 - C16.320.290
└─└─

Déficience en GATA2

GATA2 Deficiency D000077428 - C16.320.314
└─└─

Maladies génétiques liées au chromosome X

Genetic Diseases, X-Linked D040181 - C16.320.322
└─└─

Maladies génétiques liées au chromosome Y

Genetic Diseases, Y-Linked D050174 - C16.320.338
└─└─

Syndrome de Hajdu-Cheney

Hajdu-Cheney Syndrome D031845 - C16.320.355
└─└─

Hémoglobinopathies

Hemoglobinopathies D006453 - C16.320.365
└─└─

Maladies neurodégénératives héréditaires

Heredodegenerative Disorders, Nervous System D020271 - C16.320.400
└─└─

Syndrome de Kartagener

Kartagener Syndrome D007619 - C16.320.480
└─└─

Laminopathies

Laminopathies D000083083 - C16.320.488
└─└─

Syndrome de Lennox-Gastaut

Lennox Gastaut Syndrome D065768 - C16.320.495
└─└─

Syndrome de Loeys-Dietz

Loeys-Dietz Syndrome D055947 - C16.320.510
└─└─

Dystrophies musculaires

Muscular Dystrophies D009136 - C16.320.577
└─└─

Syndromes myasthéniques congénitaux

Myasthenic Syndromes, Congenital D020294 - C16.320.590
└─└─

Syndromes néoplasiques héréditaires

Neoplastic Syndromes, Hereditary D009386 - C16.320.700
└─└─

Syndromes oro-facio-digitaux

Orofaciodigital Syndromes D009958 - C16.320.714
└─└─

Pachydermopériostose

Osteoarthropathy, Primary Hypertrophic D010004 - C16.320.718
└─└─

Ostéochondrodysplasies

Osteochondrodysplasias D010009 - C16.320.728
└─└─

Analgésie congénitale

Pain Insensitivity, Congenital D000699 - C16.320.775
└─└─

Anomalie de Pelger-Huët

Pelger-Huet Anomaly D010381 - C16.320.784
└─└─

Maladie des brides amniotiques

Amniotic Band Syndrome D000652 - C16.614.042
└─└─

Anémie néonatale

Anemia, Neonatal D000751 - C16.614.053
└─└─

Asphyxie néonatale

Asphyxia Neonatorum D001238 - C16.614.092
└─└─

Colique

Colic D003085 - C16.614.166
└─└─

Insuffisances médullaires congénitales

Congenital Bone Marrow Failure Syndromes D000080984 - C16.614.183
└─└─

Mucoviscidose

Cystic Fibrosis D003550 - C16.614.213
└─└─

Épilepsie bénigne néonatale

Epilepsy, Benign Neonatal D020936 - C16.614.258
└─└─

Hydrophtalmie

Hydrophthalmos D006871 - C16.614.438
└─└─

Hyperostose corticale infantile

Hyperostosis, Cortical, Congenital D006958 - C16.614.465
└─└─

Maladies du prématuré

Infant, Premature, Diseases D007235 - C16.614.521
└─└─

Syndrome d'aspiration méconiale

Meconium Aspiration Syndrome D008471 - C16.614.580
└─└─

Syndrome de Moebius

Mobius Syndrome D020331 - C16.614.595
└─└─

Nystagmus congénital

Nystagmus, Congenital D020417 - C16.614.643
└─└─

Conjonctivite du nouveau-né

Ophthalmia Neonatorum D009878 - C16.614.677
└─└─

Persistance de la circulation foetale

Persistent Fetal Circulation Syndrome D010547 - C16.614.694
└─└─

Syphilis congénitale

Syphilis, Congenital D013590 - C16.614.868
└─└─

Dysplasie thanatophore

Thanatophoric Dysplasia D013796 - C16.614.890
└─└─

Thrombocytopénie néonatale allo-immune

Thrombocytopenia, Neonatal Alloimmune D054098 - C16.614.899
└─└─

Toxoplasmose congénitale

Toxoplasmosis, Congenital D014125 - C16.614.909
└─└─└─

Syndrome de Laurence-Moon

Laurence-Moon Syndrome D007849 - C16.131.077.509
└─└─└─

Naevus sébacé de Jadassohn

Nevus, Sebaceous of Jadassohn D054000 - C16.131.077.633
└─└─└─

Syndrome de Prune Belly

Prune Belly Syndrome D011535 - C16.131.077.745
└─└─└─

Syndrome de rubéole congénitale

Rubella Syndrome, Congenital D012410 - C16.131.077.790
└─└─└─

Syndrome de Waardenburg

Waardenburg Syndrome D014849 - C16.131.077.938
└─└─└─

Enfants siamois

Twins, Conjoined D014428 - C16.131.085.806
└─└─└─

Cardiopathies congénitales

Heart Defects, Congenital D006330 - C16.131.240.400
└─└─└─

Anomalies vasculaires

Vascular Malformations D054079 - C16.131.240.850
└─└─└─

Malformations anorectales

Anorectal Malformations D000071056 - C16.131.314.047
└─└─└─

Imperforation anale

Anus, Imperforate D001006 - C16.131.314.094
└─└─└─

Atrésie des voies biliaires

Biliary Atresia D001656 - C16.131.314.125
└─└─└─

Kyste du cholédoque

Choledochal Cyst D015529 - C16.131.314.184
└─└─└─

Éventration diaphragmatique

Diaphragmatic Eventration D003965 - C16.131.314.244
└─└─└─

Atrésie de l'oesophage

Esophageal Atresia D004933 - C16.131.314.330
└─└─└─

Maladie de Hirschsprung

Hirschsprung Disease D006627 - C16.131.314.439
└─└─└─

Atrésie intestinale

Intestinal Atresia D007409 - C16.131.314.466
└─└─└─

Pancréas divisum

Pancreas Divisum D000092142 - C16.131.314.667
└─└─└─

Anomalie de jonction biliopancréatique

Pancreaticobiliary Maljunction D000080222 - C16.131.314.778
└─└─└─

Anophtalmie

Anophthalmos D000853 - C16.131.384.159
└─└─└─

Blépharophimosis

Blepharophimosis D016569 - C16.131.384.190
└─└─└─

Colobome

Coloboma D003103 - C16.131.384.282
└─└─└─

Ectopie du cristallin

Ectopia Lentis D004479 - C16.131.384.405
└─└─└─

Microphtalmie

Microphthalmos D008850 - C16.131.384.666
└─└─└─

Persistance et hyperplasie du vitré primitif

Persistent Hyperplastic Primary Vitreous D054514 - C16.131.384.725
└─└─└─

Lymphangiectasie intestinale

Lymphangiectasis, Intestinal D008201 - C16.131.482.500
└─└─└─

Arthrogrypose

Arthrogryposis D001176 - C16.131.621.077
└─└─└─

Dysplasie campomélique

Campomelic Dysplasia D055036 - C16.131.621.142
└─└─└─

Syndrome de la côte cervicale

Cervical Rib Syndrome D002573 - C16.131.621.174
└─└─└─

Malformations crâniofaciales

Craniofacial Abnormalities D019465 - C16.131.621.207
└─└─└─

Dysplasie développementale de hanche

Developmental Dysplasia of the Hip D000082602 - C16.131.621.297
└─└─└─

Thorax en entonnoir

Funnel Chest D005660 - C16.131.621.386
└─└─└─

Luxation congénitale de la hanche

Hip Dislocation, Congenital D006618 - C16.131.621.449
└─└─└─

Syndrome de Klippel-Feil

Klippel-Feil Syndrome D007714 - C16.131.621.551
└─└─└─

Anomalies morphologiques congénitales des membres

Limb Deformities, Congenital D017880 - C16.131.621.585
└─└─└─

Synostose

Synostosis D013580 - C16.131.621.906
└─└─└─

Kystes du système nerveux central

Central Nervous System Cysts D020863 - C16.131.666.142
└─└─└─

Malformations vasculaires du système nerveux central

Central Nervous System Vascular Malformations D020785 - C16.131.666.190
└─└─└─

Troubles de dysinnervation crânienne congénitale

Congenital Cranial Dysinnervation Disorders D000093922 - C16.131.666.198
└─└─└─

Syndrome de Dandy-Walker

Dandy-Walker Syndrome D003616 - C16.131.666.205
└─└─└─

Hydranencéphalie

Hydranencephaly D006832 - C16.131.666.450
└─└─└─

Malformations corticales

Malformations of Cortical Development D054220 - C16.131.666.507
└─└─└─

Anomalies du tube neural

Neural Tube Defects D009436 - C16.131.666.680
└─└─└─

Kyste bronchogénique

Bronchogenic Cyst D001994 - C16.131.740.195
└─└─└─

Séquestration bronchopulmonaire

Bronchopulmonary Sequestration D001998 - C16.131.740.214
└─└─└─

Atrésie des choanes

Choanal Atresia D002754 - C16.131.740.271
└─└─└─

Malformation congénitale kystique adénomatoïde du poumon

Cystic Adenomatoid Malformation of Lung, Congenital D015615 - C16.131.740.290
└─└─└─

Laryngocèle

Laryngocele D059608 - C16.131.740.650
└─└─└─

Laryngosténose

Laryngostenosis D007829 - C16.131.740.658
└─└─└─

Syndrome du cimeterre

Scimitar Syndrome D012587 - C16.131.740.815
└─└─└─

Trachéobronchomégalie

Tracheobronchomegaly D014137 - C16.131.740.830
└─└─└─

Dextrocardie

Dextrocardia D003914 - C16.131.810.250
└─└─└─

Lévocardie

Levocardia D007979 - C16.131.810.700
└─└─└─

Complexe de Carney

Carney Complex D056733 - C16.131.831.108
└─└─└─

Malformations maxillofaciales

Maxillofacial Abnormalities D019767 - C16.131.850.500
└─└─└─

Malformations de la bouche

Mouth Abnormalities D009056 - C16.131.850.525
└─└─└─

Malformations dentaires

Tooth Abnormalities D014071 - C16.131.850.800
└─└─└─

Exstrophie vésicale

Bladder Exstrophy D001746 - C16.131.939.132
└─└─└─

Épispadias

Epispadias D004842 - C16.131.939.374
└─└─└─

Syndrome de Fraser

Fraser Syndrome D058497 - C16.131.939.410
└─└─└─

Reins fusionnés

Fused Kidney D000069337 - C16.131.939.445
└─└─└─

Hypospadias

Hypospadias D007021 - C16.131.939.516
└─└─└─

Dysplasie rénale multikystique

Multicystic Dysplastic Kidney D021782 - C16.131.939.629
└─└─└─

Uretère rétrocave

Retrocaval Ureter D064749 - C16.131.939.915
└─└─└─

Utérus double

Uterine Duplication Anomalies D000093662 - C16.131.939.957
└─└─└─

Anémie dysérythropoïétique congénitale

Anemia, Dyserythropoietic, Congenital D000742 - C16.320.070.095
└─└─└─

Anémie hémolytique congénitale non sphérocytaire

Anemia, Hemolytic, Congenital Nonspherocytic D000746 - C16.320.070.100
└─└─└─

Elliptocytose héréditaire

Elliptocytosis, Hereditary D004612 - C16.320.070.365
└─└─└─

Sphérocytose héréditaire

Spherocytosis, Hereditary D013103 - C16.320.070.785
└─└─└─

Anémie de Blackfan-Diamond

Anemia, Diamond-Blackfan D029503 - C16.320.077.090
└─└─└─

Résistance à la protéine C activée

Activated Protein C Resistance D020016 - C16.320.099.037
└─└─└─

Afibrinogénémie

Afibrinogenemia D000347 - C16.320.099.056
└─└─└─

Déficit en antithrombine III

Antithrombin III Deficiency D020152 - C16.320.099.075
└─└─└─

Syndrome de Bernard-Soulier

Bernard-Soulier Syndrome D001606 - C16.320.099.080
└─└─└─

Déficit en facteur V

Factor V Deficiency D005166 - C16.320.099.300
└─└─└─

Déficit en facteur VII

Factor VII Deficiency D005168 - C16.320.099.310
└─└─└─

Déficit en facteur X

Factor X Deficiency D005171 - C16.320.099.320
└─└─└─

Déficit en facteur XI

Factor XI Deficiency D005173 - C16.320.099.325
└─└─└─

Déficit en facteur XII

Factor XII Deficiency D005175 - C16.320.099.330
└─└─└─

Déficit en facteur XIII

Factor XIII Deficiency D005177 - C16.320.099.335
└─└─└─

Syndrome des plaquettes grises

Gray Platelet Syndrome D055652 - C16.320.099.417
└─└─└─

Hémophilie A

Hemophilia A D006467 - C16.320.099.500
└─└─└─

Hypoprothrombinémies

Hypoprothrombinemias D007020 - C16.320.099.550
└─└─└─

Déficit en protéine C

Protein C Deficiency D020151 - C16.320.099.690
└─└─└─

Thrombasthénie

Thrombasthenia D013915 - C16.320.099.820
└─└─└─

Maladies de von Willebrand

von Willebrand Diseases D014842 - C16.320.099.920
└─└─└─

Syndrome d'Angelman

Angelman Syndrome D017204 - C16.320.180.040
└─└─└─

Syndrome de Beckwith-Wiedemann

Beckwith-Wiedemann Syndrome D001506 - C16.320.180.080
└─└─└─

Syndrome branchio-oto-rénal

Branchio-Oto-Renal Syndrome D019280 - C16.320.180.090
└─└─└─

Maladie du cri du chat

Cri-du-Chat Syndrome D003410 - C16.320.180.190
└─└─└─

Syndrome de Cornelia de Lange

De Lange Syndrome D003635 - C16.320.180.210
└─└─└─

Syndrome de Down

Down Syndrome D004314 - C16.320.180.260
└─└─└─

Holoprosencéphalie

Holoprosencephaly D016142 - C16.320.180.380
└─└─└─

Syndrome de Jacobsen

Jacobsen Distal 11q Deletion Syndrome D054868 - C16.320.180.440
└─└─└─

Syndrome de Rubinstein-Taybi

Rubinstein-Taybi Syndrome D012415 - C16.320.180.790
└─└─└─

Maladies liées aux chromosomes sexuels

Sex Chromosome Disorders D025064 - C16.320.180.830
└─└─└─

Syndrome de Smith-Magenis

Smith-Magenis Syndrome D058496 - C16.320.180.887
└─└─└─

Syndrome de Sotos

Sotos Syndrome D058495 - C16.320.180.905
└─└─└─

Syndrome de Patau

Trisomy 13 Syndrome D000073839 - C16.320.180.923
└─└─└─

Syndrome d'Edwards

Trisomy 18 Syndrome D000073842 - C16.320.180.932
└─└─└─

Syndrome de Williams

Williams Syndrome D018980 - C16.320.180.970
└─└─└─

Syndrome de Wolf-Hirschhorn

Wolf-Hirschhorn Syndrome D054877 - C16.320.180.985
└─└─└─

Syndrome de Bardet-Biedl

Bardet-Biedl Syndrome D020788 - C16.320.184.125
└─└─└─

Maladie de Caroli

Caroli Disease D016767 - C16.320.184.250
└─└─└─

Troubles de la motilité ciliaire

Ciliary Motility Disorders D002925 - C16.320.184.500
└─└─└─

Polykystoses rénales

Polycystic Kidney Diseases D007690 - C16.320.184.625
└─└─└─

Maladie de von Hippel-Lindau

von Hippel-Lindau Disease D006623 - C16.320.184.750
└─└─└─

Achondroplasie

Achondroplasia D000130 - C16.320.240.500
└─└─└─

Nanisme MULIBREY

Mulibrey Nanism D050336 - C16.320.240.875
└─└─└─

Syndrome de Silver-Russell

Silver-Russell Syndrome D056730 - C16.320.240.937
└─└─└─

Aniridie

Aniridia D015783 - C16.320.290.078
└─└─└─

Dystrophies des cônes et des batonnets

Cone-Rod Dystrophies D000071700 - C16.320.290.152
└─└─└─

Dystrophies héréditaires de la cornée

Corneal Dystrophies, Hereditary D003317 - C16.320.290.162
└─└─└─

Syndrome de rétraction de Duane

Duane Retraction Syndrome D004370 - C16.320.290.235
└─└─└─

Vitréorétinopathies exsudatives familiales

Familial Exudative Vitreoretinopathies D000080345 - C16.320.290.352
└─└─└─

Atrophie gyrée

Gyrate Atrophy D015799 - C16.320.290.468
└─└─└─

Hypoplasie du nerf optique

Optic Nerve Hypoplasia D000080344 - C16.320.290.612
└─└─└─

Dysplasie rétinienne

Retinal Dysplasia D015792 - C16.320.290.660
└─└─└─

Rétinite pigmentaire

Retinitis Pigmentosa D012174 - C16.320.290.684
└─└─└─

Maladie de Stargardt

Stargardt Disease D000080362 - C16.320.290.724
└─└─└─

Dystrophie maculaire vitelliforme

Vitelliform Macular Dystrophy D057826 - C16.320.290.763
└─└─└─

Syndrome d'Aicardi

Aicardi Syndrome D058540 - C16.320.322.030
└─└─└─

Choroïdérémie

Choroideremia D015794 - C16.320.322.092
└─└─└─

Hémophilie B

Hemophilia B D002836 - C16.320.322.235
└─└─└─

Non-compaction isolée du ventricule

Isolated Noncompaction of the Ventricular Myocardium D056830 - C16.320.322.370
└─└─└─

Drépanocytose

Anemia, Sickle Cell D000755 - C16.320.365.155
└─└─└─

Hémoglobinose C

Hemoglobin C Disease D006445 - C16.320.365.463
└─└─└─

Thalassémie

Thalassemia D013789 - C16.320.365.826
└─└─└─

Fièvre méditerranéenne familiale

Familial Mediterranean Fever D010505 - C16.320.382.625
└─└─└─

Amyotrophie bulbospinale liée à l'X

Bulbo-Spinal Atrophy, X-Linked D055534 - C16.320.400.100
└─└─└─

Dystonie musculaire déformante

Dystonia Musculorum Deformans D004422 - C16.320.400.330
└─└─└─

Syndrome de Gerstmann-Sträussler-Scheinker

Gerstmann-Straussler-Scheinker Disease D016098 - C16.320.400.350
└─└─└─

Neuropathie héréditaire motrice et sensitive

Hereditary Sensory and Motor Neuropathy D015417 - C16.320.400.375
└─└─└─

Neuropathies héréditaires sensitives et autonomes

Hereditary Sensory and Autonomic Neuropathies D009477 - C16.320.400.415
└─└─└─

Maladie de Lafora

Lafora Disease D020192 - C16.320.400.480
└─└─└─

Retard mental lié à l'X

Mental Retardation, X-Linked D038901 - C16.320.400.525
└─└─└─

Myotonie congénitale

Myotonia Congenita D009224 - C16.320.400.540
└─└─└─

Neuroacanthocytose

Neuroacanthocytosis D054546 - C16.320.400.550
└─└─└─

Atrophies optiques héréditaires

Optic Atrophies, Hereditary D015418 - C16.320.400.630
└─└─└─

Neurodégénérescence associée à la pantothénate kinase

Pantothenate Kinase-Associated Neurodegeneration D006211 - C16.320.400.650
└─└─└─

Amyotrophies spinales infantiles

Spinal Muscular Atrophies of Childhood D014897 - C16.320.400.765
└─└─└─

Dégénérescences spinocérébelleuses

Spinocerebellar Degenerations D013132 - C16.320.400.780
└─└─└─

Syndrome d'Unverricht-Lundborg

Unverricht-Lundborg Syndrome D020194 - C16.320.400.940
└─└─└─

Cardiomyopathie dilatée

Cardiomyopathy, Dilated D002311 - C16.320.488.750
└─└─└─

Myopathies distales

Distal Myopathies D049310 - C16.320.577.074
└─└─└─

Dystrophies musculaires des ceintures

Muscular Dystrophies, Limb-Girdle D049288 - C16.320.577.280
└─└─└─

Myopathie de Duchenne

Muscular Dystrophy, Duchenne D020388 - C16.320.577.300
└─└─└─

Dystrophie musculaire d'Emery-Dreifuss

Muscular Dystrophy, Emery-Dreifuss D020389 - C16.320.577.350
└─└─└─

Dystrophie musculaire facio-scapulo-humérale

Muscular Dystrophy, Facioscapulohumeral D020391 - C16.320.577.400
└─└─└─

Dystrophie musculaire oculopharyngée

Muscular Dystrophy, Oculopharyngeal D039141 - C16.320.577.450
└─└─└─

Dystrophie myotonique

Myotonic Dystrophy D009223 - C16.320.577.500
└─└─└─

Syndrome de Walker-Warburg

Walker-Warburg Syndrome D058494 - C16.320.577.750
└─└─└─

Polypose adénomateuse colique

Adenomatous Polyposis Coli D011125 - C16.320.700.100
└─└─└─

Naevomatose basocellulaire

Basal Cell Nevus Syndrome D001478 - C16.320.700.175
└─└─└─

Syndrome de Birt-Hogg-Dubé

Birt-Hogg-Dube Syndrome D058249 - C16.320.700.212
└─└─└─

Syndrome du naevus dysplasique

Dysplastic Nevus Syndrome D004416 - C16.320.700.305
└─└─└─

Maladie des exostoses multiples

Exostoses, Multiple Hereditary D005097 - C16.320.700.330
└─└─└─

Syndrome des hamartomes multiples

Hamartoma Syndrome, Multiple D006223 - C16.320.700.435
└─└─└─

Neurofibromatoses

Neurofibromatoses D017253 - C16.320.700.633
└─└─└─

Complexe de la sclérose tubéreuse

Tuberous Sclerosis D014402 - C16.320.700.700
└─└─└─

Tumeur de Wilms

Wilms Tumor D009396 - C16.320.700.900
└─└─└─

Maladie de Dent

Dent Disease D057973 - C16.320.831.271
└─└─└─

Syndrome de Fanconi

Fanconi Syndrome D005198 - C16.320.831.450
└─└─└─

Syndrome de Gitelman

Gitelman Syndrome D053579 - C16.320.831.491
└─└─└─

Syndrome de Liddle

Liddle Syndrome D056929 - C16.320.831.698
└─└─└─

Pseudohypoaldostéronisme

Pseudohypoaldosteronism D011546 - C16.320.831.770
└─└─└─

Aminoaciduries rénales

Renal Aminoacidurias D000608 - C16.320.831.885
└─└─└─

Protéinose lipoïde

Lipoid Proteinosis of Urbach and Wiethe D008065 - C16.320.850.595
└─└─└─

Déficit en prolidase

Prolidase Deficiency D056732 - C16.320.850.746
└─└─└─

Syndrome de transfusion foeto-foetale

Fetofetal Transfusion D005330 - C16.614.053.344
└─└─└─

Transfusion foetomaternelle

Fetomaternal Transfusion D005331 - C16.614.053.511
└─└─└─

Dysplasie bronchopulmonaire

Bronchopulmonary Dysplasia D001997 - C16.614.521.125
└─└─└─

Leucomalacie périventriculaire

Leukomalacia, Periventricular D007969 - C16.614.521.450
└─└─└─

Syndrome de détresse respiratoire du nouveau-né

Respiratory Distress Syndrome, Newborn D012127 - C16.614.521.563
└─└─└─

Rétinopathie du prématuré

Retinopathy of Prematurity D012178 - C16.614.521.731
└─└─└─└─

Coarctation aortique

Aortic Coarctation D001017 - C16.131.240.400.090
└─└─└─└─

Tunnel aorto-ventriculaire

Aortico-Ventricular Tunnel D000082903 - C16.131.240.400.118
└─└─└─└─

Dysplasie ventriculaire droite arythmogène

Arrhythmogenic Right Ventricular Dysplasia D019571 - C16.131.240.400.145
└─└─└─└─

Maladie de la valve aortique bicuspide

Bicuspid Aortic Valve Disease D000082882 - C16.131.240.400.186
└─└─└─└─

Coeur triatrial

Cor Triatriatum D003310 - C16.131.240.400.200
└─└─└─└─

Anomalies congénitales des vaisseaux coronaires

Coronary Vessel Anomalies D003330 - C16.131.240.400.210
└─└─└─└─

Coeur croisé

Crisscross Heart D003420 - C16.131.240.400.220
└─└─└─└─

Persistance du canal artériel

Ductus Arteriosus, Patent D004374 - C16.131.240.400.340
└─└─└─└─

Maladie d'Ebstein

Ebstein Anomaly D004437 - C16.131.240.400.395
└─└─└─└─

Ectopie cardiaque

Ectopia Cordis D054083 - C16.131.240.400.422
└─└─└─└─

Complexe d'Eisenmenger

Eisenmenger Complex D004541 - C16.131.240.400.450
└─└─└─└─

Malformations des cloisons cardiaques

Heart Septal Defects D006343 - C16.131.240.400.560
└─└─└─└─

Syndrome d'hétérotaxie

Heterotaxy Syndrome D059446 - C16.131.240.400.592
└─└─└─└─

Hypoplasie du coeur gauche

Hypoplastic Left Heart Syndrome D018636 - C16.131.240.400.625
└─└─└─└─

Valve aortique quadricuspide

Quadricuspid Aortic Valve D000082902 - C16.131.240.400.817
└─└─└─└─

Tétralogie de Fallot

Tetralogy of Fallot D013771 - C16.131.240.400.849
└─└─└─└─

Transposition des gros vaisseaux

Transposition of Great Vessels D014188 - C16.131.240.400.915
└─└─└─└─

Atrésie tricuspide

Tricuspid Atresia D018785 - C16.131.240.400.920
└─└─└─└─

Trilogie de Fallot

Trilogy of Fallot D014286 - C16.131.240.400.960
└─└─└─└─

Cœur univentriculaire

Univentricular Heart D000080039 - C16.131.240.400.975
└─└─└─└─

Syndrome de Wolff-Parkinson-White

Wolff-Parkinson-White Syndrome D014927 - C16.131.240.400.980
└─└─└─└─

Malformations artérioveineuses

Arteriovenous Malformations D001165 - C16.131.240.850.750
└─└─└─└─

Syndrome de May-Thurner

May-Thurner Syndrome D062108 - C16.131.240.850.890
└─└─└─└─

Syndrome du ligament arqué médian

Median Arcuate Ligament Syndrome D000074742 - C16.131.240.850.898
└─└─└─└─

Veine cave supérieure gauche persistante

Persistent Left Superior Vena Cava D000083402 - C16.131.240.850.902
└─└─└─└─

Atrésie pulmonaire

Pulmonary Atresia D018633 - C16.131.240.850.906
└─└─└─└─

Artère ombilicale unique

Single Umbilical Artery D058529 - C16.131.240.850.952
└─└─└─└─

Télangiectasie hémorragique héréditaire

Telangiectasia, Hereditary Hemorrhagic D013683 - C16.131.240.850.968
└─└─└─└─

Anneau vasculaire

Vascular Ring D000073872 - C16.131.240.850.984
└─└─└─└─

Dysostose cleido-crânienne héréditaire

Cleidocranial Dysplasia D002973 - C16.131.621.207.207
└─└─└─└─

Dysostose craniofaciale

Craniofacial Dysostosis D003394 - C16.131.621.207.231
└─└─└─└─

Plagiocéphalie

Plagiocephaly D059041 - C16.131.621.207.707
└─└─└─└─

Platybasie

Platybasia D010985 - C16.131.621.207.720
└─└─└─└─

Arachnodactylie

Arachnodactyly D054119 - C16.131.621.585.174
└─└─└─└─

Brachydactylie

Brachydactyly D059327 - C16.131.621.585.262
└─└─└─└─

Ectromélie

Ectromelia D004480 - C16.131.621.585.350
└─└─└─└─

Anomalies morphologiques congénitales du membre inférieur

Lower Extremity Deformities, Congenital D038061 - C16.131.621.585.512
└─└─└─└─

Polydactylie

Polydactyly D017689 - C16.131.621.585.600
└─└─└─└─

Syndrome de Protée

Proteus Syndrome D016715 - C16.131.621.585.620
└─└─└─└─

Anomalies morphologiques congénitales du membre supérieur

Upper Extremity Deformities, Congenital D038062 - C16.131.621.585.988
└─└─└─└─

Craniosynostoses

Craniosynostoses D003398 - C16.131.621.906.364
└─└─└─└─

Syndactylie

Syndactyly D013576 - C16.131.621.906.819
└─└─└─└─

Coalition tarsienne

Tarsal Coalition D000070604 - C16.131.621.906.909
└─└─└─└─

Syndrome acrocalleux

Acrocallosal Syndrome D055673 - C16.131.666.034.500
└─└─└─└─

Kystes arachnoïdiens

Arachnoid Cysts D016080 - C16.131.666.142.100
└─└─└─└─

Kystes colloïdes

Colloid Cysts D056364 - C16.131.666.142.200
└─└─└─└─

Angiome veineux du système nerveux central

Central Nervous System Venous Angioma D020787 - C16.131.666.190.100
└─└─└─└─

Hémangiome caverneux du système nerveux central

Hemangioma, Cavernous, Central Nervous System D020786 - C16.131.666.190.200
└─└─└─└─

Malformations artérioveineuses intracrâniennes

Intracranial Arteriovenous Malformations D002538 - C16.131.666.190.500
└─└─└─└─

Sinus pericranii

Sinus Pericranii D020779 - C16.131.666.190.800
└─└─└─└─

Malformations corticales du groupe I

Malformations of Cortical Development, Group I D065703 - C16.131.666.507.400
└─└─└─└─

Malformations corticales du groupe II

Malformations of Cortical Development, Group II D054081 - C16.131.666.507.450
└─└─└─└─

Malformations corticales du groupe III

Malformations of Cortical Development, Group III D065704 - C16.131.666.507.500
└─└─└─└─

Anencéphalie

Anencephaly D000757 - C16.131.666.680.196
└─└─└─└─

Malformation d'Arnold-Chiari

Arnold-Chiari Malformation D001139 - C16.131.666.680.291
└─└─└─└─

Myéloméningocèle

Meningomyelocele D008591 - C16.131.666.680.610
└─└─└─└─

Pentalogie de Cantrell

Pentalogy of Cantrell D058502 - C16.131.666.680.705
└─└─└─└─

Dysraphie spinale

Spinal Dysraphism D016135 - C16.131.666.680.800
└─└─└─└─

Dysplasie septo-optique

Septo-Optic Dysplasia D025962 - C16.131.666.763.500
└─└─└─└─

Difformités dento-faciales

Dentofacial Deformities D063169 - C16.131.850.500.229
└─└─└─└─

Malformations de la mâchoire

Jaw Abnormalities D007569 - C16.131.850.500.460
└─└─└─└─

Bec-de-lièvre

Cleft Lip D002971 - C16.131.850.525.164
└─└─└─└─

Fente palatine

Cleft Palate D002972 - C16.131.850.525.185
└─└─└─└─

Fibromatose gingivale

Fibromatosis, Gingival D005351 - C16.131.850.525.304
└─└─└─└─

Macrostomie

Macrostomia D008265 - C16.131.850.525.480
└─└─└─└─

Microstomie

Microstomia D008865 - C16.131.850.525.520
└─└─└─└─

Insuffisance vélopharyngée

Velopharyngeal Insufficiency D014681 - C16.131.850.525.955
└─└─└─└─

Anodontie

Anodontia D000848 - C16.131.850.800.100
└─└─└─└─

Dens in dente

Dens in Dente D003719 - C16.131.850.800.250
└─└─└─└─

Dysplasie de la dentine

Dentin Dysplasia D003805 - C16.131.850.800.260
└─└─└─└─

Dentinogenèse imparfaite

Dentinogenesis Imperfecta D003811 - C16.131.850.800.270
└─└─└─└─

Anomalies de développement de l'émail

Developmental Defects of Enamel D000094602 - C16.131.850.800.295
└─└─└─└─

Diastème

Diastema D003970 - C16.131.850.800.320
└─└─└─└─

Dents fusionnées

Fused Teeth D005671 - C16.131.850.800.370
└─└─└─└─

Odontodysplasie

Odontodysplasia D018126 - C16.131.850.800.600
└─└─└─└─

Dent surnuméraire

Tooth, Supernumerary D014096 - C16.131.850.800.850
└─└─└─└─

Maladie de von Willebrand de type 1

von Willebrand Disease, Type 1 D056725 - C16.320.099.920.100
└─└─└─└─

Maladie de von Willebrand de type 2

von Willebrand Disease, Type 2 D056728 - C16.320.099.920.200
└─└─└─└─

Maladie de von Willebrand de type 3

von Willebrand Disease, Type 3 D056729 - C16.320.099.920.300
└─└─└─└─

Polykystose rénale autosomique dominante

Polycystic Kidney, Autosomal Dominant D016891 - C16.320.184.625.500
└─└─└─└─

Polykystose rénale autosomique récessive

Polycystic Kidney, Autosomal Recessive D017044 - C16.320.184.625.510
└─└─└─└─

Dystrophie cornéenne de Meesmann

Corneal Dystrophy, Juvenile Epithelial of Meesmann D053559 - C16.320.290.162.204
└─└─└─└─

Dystrophie endothéliale de Fuchs

Fuchs' Endothelial Dystrophy D005642 - C16.320.290.162.410
└─└─└─└─

Lissencéphalies classiques et hétérotopies laminaires sous-corticales

Classical Lissencephalies and Subcortical Band Heterotopias D054221 - C16.320.322.500.186
└─└─└─└─

Syndrome thoracique aigu

Acute Chest Syndrome D056586 - C16.320.365.155.219
└─└─└─└─

Drépanocytose SC

Hemoglobin SC Disease D006450 - C16.320.365.155.440
└─└─└─└─

Trait drépanocytaire

Sickle Cell Trait D012805 - C16.320.365.155.668
└─└─└─└─

alpha-Thalassémie

alpha-Thalassemia D017085 - C16.320.365.826.100
└─└─└─└─

bêta-Thalassémie

beta-Thalassemia D017086 - C16.320.365.826.150
└─└─└─└─

delta-Thalassémie

delta-Thalassemia D055538 - C16.320.365.826.575
└─└─└─└─

Syndrome d'Alström

Alstrom Syndrome D056769 - C16.320.400.375.099
└─└─└─└─

Maladie de Charcot-Marie-Tooth

Charcot-Marie-Tooth Disease D002607 - C16.320.400.375.200
└─└─└─└─

Neuropathie à axones géants

Giant Axonal Neuropathy D056768 - C16.320.400.375.490
└─└─└─└─

Paraplégie spasmodique héréditaire

Spastic Paraplegia, Hereditary D015419 - C16.320.400.375.820
└─└─└─└─

Dysautonomie familiale

Dysautonomia, Familial D004402 - C16.320.400.415.309
└─└─└─└─

Syndrome de Coffin-Lowry

Coffin-Lowry Syndrome D038921 - C16.320.400.525.249
└─└─└─└─

Syndrome du chromosome X fragile

Fragile X Syndrome D005600 - C16.320.400.525.500
└─└─└─└─

Syndrome de Rett

Rett Syndrome D015518 - C16.320.400.525.937
└─└─└─└─

Dyssynergie cérébelleuse myoclonique

Myoclonic Cerebellar Dyssynergia D002527 - C16.320.400.780.500
└─└─└─└─

Atrophies olivo-ponto-cérébelleuses

Olivopontocerebellar Atrophies D009849 - C16.320.400.780.750
└─└─└─└─

Ataxies spinocérébelleuses

Spinocerebellar Ataxias D020754 - C16.320.400.780.875
└─└─└─└─

Sarcoglycanopathies

Sarcoglycanopathies D058088 - C16.320.577.280.500
└─└─└─└─

Dystrophie musculaire d'Emery-Dreifuss autosomique

Autosomal Emery-Dreifuss Muscular Dystrophy D000083144 - C16.320.577.350.250
└─└─└─└─

Dystrophie musculaire d'Emery-Dreifuss liée à l'X

X-Linked Emery-Dreifuss Muscular Dystrophy D000083143 - C16.320.577.350.500
└─└─└─└─

Syndrome de Gardner

Gardner Syndrome D005736 - C16.320.700.100.393
└─└─└─└─

Syndrome de Lynch de type II

Lynch Syndrome II D055847 - C16.320.700.250.500
└─└─└─└─

Neurofibromatose de type 1

Neurofibromatosis 1 D009456 - C16.320.700.633.650
└─└─└─└─

Neurofibromatose de type 2

Neurofibromatosis 2 D016518 - C16.320.700.633.655
└─└─└─└─

Cystinurie

Cystinuria D003555 - C16.320.831.885.250
└─└─└─└─

Maladie des membranes hyalines

Hyaline Membrane Disease D006819 - C16.614.521.563.475
└─└─└─└─└─

Anomalie de l'artère coronaire gauche

Anomalous Left Coronary Artery D000080038 - C16.131.240.400.210.125
└─└─└─└─└─

Pont myocardique

Myocardial Bridging D054084 - C16.131.240.400.210.500
└─└─└─└─└─

Communication aortopulmonaire

Aortopulmonary Septal Defect D001028 - C16.131.240.400.560.098
└─└─└─└─└─

Canal atrioventriculaire

Endocardial Cushion Defects D004694 - C16.131.240.400.560.350
└─└─└─└─└─

Communications interauriculaires

Heart Septal Defects, Atrial D006344 - C16.131.240.400.560.375
└─└─└─└─└─

Communications interventriculaires

Heart Septal Defects, Ventricular D006345 - C16.131.240.400.560.540
└─└─└─└─└─

Syndrome de Jervell et Lange Nielsen

Jervell-Lange Nielsen Syndrome D029593 - C16.131.240.400.715.440
└─└─└─└─└─

Transposition congénitalement corrigée des gros vaisseaux

Congenitally Corrected Transposition of the Great Arteries D000080041 - C16.131.240.400.915.150
└─└─└─└─└─

Ventricule droit à double issue

Double Outlet Right Ventricle D004310 - C16.131.240.400.915.300
└─└─└─└─└─

Syndrome d'Hallermann-Streiff-François

Hallermann's Syndrome D006210 - C16.131.621.207.231.427
└─└─└─└─└─

Hypertélorisme

Hypertelorism D006972 - C16.131.621.207.231.480
└─└─└─└─└─

Dysostose mandibulofaciale

Mandibulofacial Dysostosis D008342 - C16.131.621.207.231.576
└─└─└─└─└─

Plagiocéphalie positionnelle

Plagiocephaly, Nonsynostotic D049068 - C16.131.621.207.707.624
└─└─└─└─└─

Anomalies morphologiques congénitales du pied

Foot Deformities, Congenital D005532 - C16.131.621.585.512.500
└─└─└─└─└─

Syndrome de Pallister-Hall

Pallister-Hall Syndrome D054975 - C16.131.621.585.600.374
└─└─└─└─└─

Syndrome des côtes courtes-polydactylie

Short Rib-Polydactyly Syndrome D012779 - C16.131.621.585.600.750
└─└─└─└─└─

Anomalies morphologiques congénitales de la main

Hand Deformities, Congenital D006228 - C16.131.621.585.988.500
└─└─└─└─└─

Acrocéphalosyndactylie

Acrocephalosyndactylia D000168 - C16.131.621.906.819.100
└─└─└─└─└─

Syndrome de Poland

Poland Syndrome D011045 - C16.131.621.906.819.756
└─└─└─└─└─

Malformations de la veine de Galien

Vein of Galen Malformations D054080 - C16.131.666.190.500.500
└─└─└─└─└─

Dysplasie corticale focale

Focal Cortical Dysplasia D000092222 - C16.131.666.507.400.125
└─└─└─└─└─

Sclérose de l'hippocampe

Hippocampal Sclerosis D000092223 - C16.131.666.507.400.187
└─└─└─└─└─

Mégalencéphalie

Megalencephaly D058627 - C16.131.666.507.400.249
└─└─└─└─└─

Microcéphalie

Microcephaly D008831 - C16.131.666.507.400.500
└─└─└─└─└─

Lissencéphalie

Lissencephaly D054082 - C16.131.666.507.450.499
└─└─└─└─└─

Hétérotopie nodulaire périventriculaire

Periventricular Nodular Heterotopia D054091 - C16.131.666.507.450.750
└─└─└─└─└─

Polymicrogyrie

Polymicrogyria D065706 - C16.131.666.507.500.500
└─└─└─└─└─

Porencéphalie

Porencephaly D065708 - C16.131.666.507.500.625
└─└─└─└─└─

Schizencéphalie

Schizencephaly D065707 - C16.131.666.507.500.750
└─└─└─└─└─

Spina bifida cystica

Spina Bifida Cystica D016137 - C16.131.666.680.800.730
└─└─└─└─└─

Spina bifida occulta

Spina Bifida Occulta D016136 - C16.131.666.680.800.750
└─└─└─└─└─

Micrognathisme

Micrognathism D008844 - C16.131.850.500.460.457
└─└─└─└─└─

Syndrome de Pierre Robin

Pierre Robin Syndrome D010855 - C16.131.850.500.460.606
└─└─└─└─└─

Prognathisme

Prognathism D011378 - C16.131.850.500.460.655
└─└─└─└─└─

Rétrognathie

Retrognathia D063173 - C16.131.850.500.460.827
└─└─└─└─└─

Amélogenèse imparfaite

Amelogenesis Imperfecta D000567 - C16.131.850.800.295.250
└─└─└─└─└─

Hypominéralisation de l'émail dentaire

Dental Enamel Hypomineralization D000094603 - C16.131.850.800.295.500
└─└─└─└─└─

Hypoplasie de l'émail dentaire

Dental Enamel Hypoplasia D003744 - C16.131.850.800.295.625
└─└─└─└─└─

Maladie de Machado-Joseph

Machado-Joseph Disease D017827 - C16.320.400.780.875.500
└─└─└─└─└─└─

Tronc artériel commun

Truncus Arteriosus, Persistent D014339 - C16.131.240.400.560.098.500
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Foramen ovale perméable

Foramen Ovale, Patent D054092 - C16.131.240.400.560.375.258
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Syndrome de Lutembacher

Lutembacher Syndrome D008185 - C16.131.240.400.560.375.518
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Syndrome de Goldenhar

Goldenhar Syndrome D006053 - C16.131.621.207.231.576.410
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Pied bot

Talipes D000070558 - C16.131.621.585.512.500.681
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Hémimégalencéphalie

Hemimegalencephaly D065705 - C16.131.666.507.400.249.500
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Lissencéphalie pavimenteuse

Cobblestone Lissencephaly D054222 - C16.131.666.507.450.499.249
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Fluorose dentaire

Fluorosis, Dental D009050 - C16.131.850.800.295.500.500
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Hypominéralisation des molaires

Molar Hypomineralization D000094604 - C16.131.850.800.295.500.750
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Pied bot varus équin congénital

Clubfoot D003025 - C16.131.621.585.512.500.681.063
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Pied bot équin

Equinus Deformity D004863 - C16.131.621.585.512.500.681.125
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Pied plat

Flatfoot D005413 - C16.131.621.585.512.500.681.250
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Pied creux

Talipes Cavus D000070589 - C16.131.621.585.512.500.681.500

Auteurs principaux

Steven P Miller

4 publications dans cette catégorie

Affiliations :
  • Neurosciences and Mental Health, The Hospital for Sick Children Research Institute, Toronto ON M5G 0A4, Canada.
  • Department of Paediatrics, The Hospital for Sick Children, The University of Toronto, Toronto ON M5G 0A4, Canada.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Philip T Levy

3 publications dans cette catégorie

Affiliations :
  • Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Shabnam Peyvandi

3 publications dans cette catégorie

Affiliations :
  • Division of Pediatric Cardiology, University of California San Francisco Benioff Children's Hospital, USA. Electronic address: shabnam.peyvandi@ucsf.edu.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

L Bernal Masferrer

2 publications dans cette catégorie

Affiliations :
  • Departamento de Dermatología, Hospital Miguel Servet, Zaragoza, Spain.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

M Claudia Matei

2 publications dans cette catégorie

Affiliations :
  • Departamento de Dermatología, Hospital Miguel Servet, Zaragoza, Spain. Electronic address: marimatei.96@gmail.com.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Y Gilaberte Calzada

2 publications dans cette catégorie

Affiliations :
  • Departamento de Dermatología, Hospital Miguel Servet, Zaragoza, Spain.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

L Navarro Campoamor

2 publications dans cette catégorie

Affiliations :
  • Departamento de Dermatología, Consulta Castellana 179, Madrid, Spain.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Laurent Mandelbrot

2 publications dans cette catégorie

Affiliations :
  • Service de Gynécologie-Obstétrique, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes Cedex, France.
  • Université de Paris, Paris, France.
  • Inserm IAME-U1137, Paris, France.
  • Groupe de Recherche sur les Infections pendant la Grossesse (GRIG), Vélizy, France.
  • FHU Prema, Paris, France.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Jeanne Sibiude

2 publications dans cette catégorie

Affiliations :
  • Service de Gynécologie-Obstétrique, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes Cedex, France.
  • Université de Paris, Paris, France.
  • Inserm IAME-U1137, Paris, France.
  • Groupe de Recherche sur les Infections pendant la Grossesse (GRIG), Vélizy, France.
  • FHU Prema, Paris, France.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Olivier Picone

2 publications dans cette catégorie

Affiliations :
  • Service de Gynécologie-Obstétrique, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes Cedex, France.
  • Université de Paris, Paris, France.
  • Inserm IAME-U1137, Paris, France.
  • Groupe de Recherche sur les Infections pendant la Grossesse (GRIG), Vélizy, France.
  • FHU Prema, Paris, France.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Catherine Limperopoulos

2 publications dans cette catégorie

Affiliations :
  • Department of Pediatrics, George Washington University School of Medicine, Washington, DC, USA.
  • Division of Diagnostic Imaging & Radiology, Children's National Health System, Washington, DC, USA.
  • Department of Radiology, George Washington University School of Medicine, Washington, DC, USA.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Jonathan O'Muircheartaigh

2 publications dans cette catégorie

Affiliations :
  • 1 Centre for the Developing Brain School of Biomedical Engineering and Imaging Sciences King's College London St Thomas' Hospital London United Kingdom.
  • 3 Department of Forensic and Neurodevelopmental Sciences King's College London Institute of Psychiatry, Psychology and Neuroscience London United Kingdom.
  • 4 Department of Neuroimaging King's College London Institute of Psychiatry, Psychology and Neuroscience London United Kingdom.
  • 5 MRC Centre for Neurodevelopmental Disorders King's College London London United Kingdom.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Hui Zhang

2 publications dans cette catégorie

Affiliations :
  • 7 Department of Computer Science and Centre for Medical Image Computing University College London London United Kingdom.

John Simpson

2 publications dans cette catégorie

Affiliations :
  • 8 Paediatric Cardiology Department Evelina London Children's Hospital St Thomas' Hospital London United Kingdom.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Joseph V Hajnal

2 publications dans cette catégorie

Affiliations :
  • 1 Centre for the Developing Brain School of Biomedical Engineering and Imaging Sciences King's College London St Thomas' Hospital London United Kingdom.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

A David Edwards

2 publications dans cette catégorie

Affiliations :
  • 1 Centre for the Developing Brain School of Biomedical Engineering and Imaging Sciences King's College London St Thomas' Hospital London United Kingdom.
  • 5 MRC Centre for Neurodevelopmental Disorders King's College London London United Kingdom.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Serena J Counsell

2 publications dans cette catégorie

Affiliations :
  • 1 Centre for the Developing Brain School of Biomedical Engineering and Imaging Sciences King's College London St Thomas' Hospital London United Kingdom.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Molly K Ball

2 publications dans cette catégorie

Affiliations :
  • Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.
  • Division of Neonatology, The Ohio State University Wexner Medical Center, Columbus, OH.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Amir H Ashrafi

2 publications dans cette catégorie

Affiliations :
  • CHOC Children's Hospital, Orange, California.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Shawn Sen

2 publications dans cette catégorie

Affiliations :
  • Division of Neonatology and Pediatric Cardiology, Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :

Sources (10000 au total)

Fetal and neonatal abnormalities due to congenital syphilis: A literature review.

The recent recrudescence of syphilis among women of childbearing age is associated with an increasing number of cases of congenital syphilis. We aimed to summarize the fetal and neonatal abnormalities... Eligible studies were retrieved from the PubMed collection database. Articles focusing on postnatal and antenatal abnormalities covered the periods from 1969 to 2019 and 1975-2019, respectively. This ... A total of 432 cases of congenital syphilis infection were reported. Abnormalities were described antenatally in 161 cases, postnatally in 319 cases, and in both the antenatal and postnatal periods in... We found that no individual sonographic sign or pattern of signs is pathognomonic for fetal syphilis. In fetuses with ultrasound abnormalities suggestive of congenital infection, syphilis must be cons...

Assessment and management of neonates with unrepaired congenital heart disease.

To review preoperative assessment and management of neonates with congenital heart disease (CHD).... The spectrum for neonates with CHD can be wide and complex. An in-depth understanding of their physiology is the first step in assessing their hemodynamics and developing an effective therapeutic stra... There is significant heterogeneity in the anatomy and physiology in newborns with CHD. Their complex pathophysiology can be simplified into seven basic subtypes, which include systolic dysfunction, di...