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Malformations et maladies congénitales, héréditaires et néonatales
Malformations et maladies congénitales, héréditaires et néonatales : Questions médicales fréquentes
Diagnostic
5
Malformations congénitales
Diagnostic prénatal
Tests génétiques
Anomalies chromosomiques
Dépistage néonatal
Maladies héréditaires
Signes cliniques
Retard de développement
Échographie
Malformations congénitales
Symptômes
5
Malformations cardiaques
Cyanose
Maladies héréditaires
Troubles cognitifs
Malformations du tube neural
Troubles neurologiques
Maladies métaboliques
Retard de croissance
Malformations congénitales
Asymptomatique
Prévention
5
Dépistage prénatal
Mesures préventives
Antécédents familiaux
Suivi médical
Traitements
5
Chirurgie
Thérapie médicamenteuse
Thérapie génique
Interventions chirurgicales
Intervention précoce
Complications
Malformations orthopédiques
Physiothérapie
Efficacité des traitements
Malformations
Complications
5
Complications
Retards de développement
Problèmes psychologiques
Estime de soi
Qualité de vie
Soins médicaux
Complications
Surveillance médicale
Mortalité infantile
Malformations graves
Facteurs de risque
5
Facteurs de risque
Toxines
Syndrome d'alcoolisme fœtal
Consommation d'alcool
Infections maternelles
Rubéole
Diabète maternel
Malformations congénitales
Médicaments
Malformations congénitales
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"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."
}
}
]
}
]
}
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
└─
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
└─└─└─└─└─└─
Foramen ovale perméable
Foramen Ovale, Patent
D054092
-
C16.131.240.400.560.375.258
└─└─└─└─└─└─
Syndrome de Lutembacher
Lutembacher Syndrome
D008185
-
C16.131.240.400.560.375.518
└─└─└─└─└─└─
Syndrome de Goldenhar
Goldenhar Syndrome
D006053
-
C16.131.621.207.231.576.410
└─└─└─└─└─└─
Pied bot
Talipes
D000070558
-
C16.131.621.585.512.500.681
└─└─└─└─└─└─
Hémimégalencéphalie
Hemimegalencephaly
D065705
-
C16.131.666.507.400.249.500
└─└─└─└─└─└─
Lissencéphalie pavimenteuse
Cobblestone Lissencephaly
D054222
-
C16.131.666.507.450.499.249
└─└─└─└─└─└─
Fluorose dentaire
Fluorosis, Dental
D009050
-
C16.131.850.800.295.500.500
└─└─└─└─└─└─
Hypominéralisation des molaires
Molar Hypomineralization
D000094604
-
C16.131.850.800.295.500.750
└─└─└─└─└─└─└─
Pied bot varus équin congénital
Clubfoot
D003025
-
C16.131.621.585.512.500.681.063
└─└─└─└─└─└─└─
Pied bot équin
Equinus Deformity
D004863
-
C16.131.621.585.512.500.681.125
└─└─└─└─└─└─└─
Pied plat
Flatfoot
D005413
-
C16.131.621.585.512.500.681.250
└─└─└─└─└─└─└─
Pied creux
Talipes Cavus
D000070589
-
C16.131.621.585.512.500.681.500
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" :
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" :
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" :
2 publications dans cette catégorie
Affiliations :
Departamento de Dermatología, Hospital Miguel Servet, Zaragoza, Spain.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :
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" :
2 publications dans cette catégorie
Affiliations :
Departamento de Dermatología, Hospital Miguel Servet, Zaragoza, Spain.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :
2 publications dans cette catégorie
Affiliations :
Departamento de Dermatología, Consulta Castellana 179, Madrid, Spain.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :
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" :
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" :
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" :
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" :
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" :
2 publications dans cette catégorie
Affiliations :
7 Department of Computer Science and Centre for Medical Image Computing University College London London United Kingdom.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :
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" :
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" :
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" :
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" :
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" :
2 publications dans cette catégorie
Affiliations :
CHOC Children's Hospital, Orange, California.
Publications dans "Malformations et maladies congénitales, héréditaires et néonatales" :
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" :
Nail disorders in newborns can show independently or as components of systemic illnesses or genodermatoses. The examination of these abnormalities is complex and sometimes challenging. However, famili...
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...
Nail disorders in newborns can show independently or as components of systemic illnesses or genodermatoses. The examination of these abnormalities is complex and sometimes challenging. However, famili...
Airway abnormalities are important but sometimes overlooked problems in children with congenital heart disease. It is often difficult to separate symptoms related to cardiac disease from those associa...
Newborns with congenital heart disease often require interventions linked to high morbidity and mortality rates. In the last few decades, many transcatheter interventions have become the first-line tr...
The ductus arteriosus (DA) has a paradoxical biological role in neonates with congenital heart disease (CHD) and can present with significant management challenges. Critical congenital cardiac lesions...
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...
Congenital heart disease is associated with impaired early brain development and adverse neurodevelopmental outcomes. This study investigated how individualized measures of preoperative cortical gyrif...
Pregabalin is frequently prescribed for neuropathic pain, generalized anxiety disorder and, to a lesser extent, epilepsy. On the basis of the analysis of a study conducted in 4 European countries, the...
Neonates with congenital heart disease (CHD) display delayed brain development, predisposing them to impaired cerebrovascular autoregulation (CAR) and ischemic brain injury. For this paper, we analyze...