| 疾病名称 |
别名 |
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| Congenital Heart Defects, Multiple Types, 4 |
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CHTD4
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Complete Atrioventricular Septal Defect-Tetralogy Of Fallot
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Cavc-Tetralogy Of Fallot
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Complete Avsd-Tetralogy Of Fallot
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Complete Atrioventricular Canal Defect-Tetralogy Of Fallot
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Complete Atrioventricular Septal Defect With Ventricular Hypoplasia
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Cavc With Ventricular Hypoplasia
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Complete Avsd With Ventricular Hypoplasia
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Complete Atrioventricular Canal Defect With Ventricular Hypoplasia
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Complete Atrioventricular Septal Defect With Ventricular Imbalance
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Unbalanced Complete Atrioventricular Canal
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Heart Defects, Congenital, Multiple Types, Type 4
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| 46,Xx Sex Reversal 5 |
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| Right Atrial Isomerism |
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Ivemark Syndrome
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Asplenia With Cardiovascular Anomalies
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RAI
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Asplenia Syndrome
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Asplenia
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Right Isomerism
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Splenic Agenesis Syndrome
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Bilateral Right-Sidedness Sequence
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Right Sided Atrial Isomerism
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Isomerism Of Right Atrial Appendage
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Heterotaxy, Visceroatrial, Autosomal Recessive
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Polyasplenia
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Vah, Autosomal Recessive
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Atrial Isomerism, Right
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Congenital Absence Of Spleen
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Bilateral Right-Sidedness
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| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
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BBSOAS
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Optic Atrophy-Intellectual Disability Syndrome
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| 46,Xx Sex Reversal |
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46,Xx Testicular Disorder Of Sex Development
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46,Xx Testicular Dsd
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De La Chapelle Syndrome
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Srxx
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Xx, Male Syndrome
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46, Xx Testicular Disorders Of Sex Development
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| Chromosome 20q11-Q12 Deletion Syndrome |
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Intellectual Developmental Disorder, Autosomal Dominant 11
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Autosomal Dominant Non-Syndromic Intellectual Disability 11
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MRD11
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Intellectual Developmental Disorder, Autosomal Dominant 11, Included
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Mrd11, Included
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Mental Retardation, Autosomal Dominant 11, Included
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Autosomal Dominant Intellectual Developmental Disorder 11
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Autosomal Dominant Mental Retardation 11
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Mental Retardation, Autosomal Dominant, Type 11
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| Diaphragm Disease |
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Abnormality Of The Diaphragm
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Disease Of Diaphragm
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Diaphragmatic Disorder
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Disorder Of Diaphragm
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| Ventricular Septal Defect |
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Ventricular Septal Defects
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Interventricular Septal Defect
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Heart Septal Defects, Ventricular
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Ventricular Septal Abnormality
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Interventricular Septum Defect
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Ventricular Septum Defect
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Vsd - [Ventricular Septum Defect]
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Congenital Ventricular Septal Defect
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Single Ventricular Septal Defect
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| Endometriosis |
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Endometriosis, Site Unspecified
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Endometrial Ectopia
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| Fallopian Tube Clear Cell Adenocarcinoma |
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Clear Cell Carcinoma Of The Fallopian Tube
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| Pulmonic Stenosis |
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Valvular Pulmonic Stenosis
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Congenital Pulmonary Valvar Stenosis
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Congenital Stenosis Of Pulmonary Valve
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Pulmonary Valve Stenosis
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Pulmonary Stenosis
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Congenital Pulmonary Valve Stricture
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Congenital Pulmonary Valve Stenosis
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| Lymphangioleiomyomatosis |
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Lymphangiomyomatosis
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LAM
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Lung Lymphangioleiomyomatosis
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Pulmonary Lymphangioleiomyomatosis
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Lymphangioleiomyomatosis, Somatic
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Lymphangio-Myomatosis
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| Tetralogy Of Fallot |
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TOF
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Fallot Tetralogy
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Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle
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Tetrad Of Fallot
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Fallot Tetrad
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Fallot Disease
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Fallot Complex
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Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
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Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle
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Interventricular Septal Defect, In Tetralogy Of Fallot
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Ventricular Septal Defect With Obstructed Right Ventricular Outflow
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Tof - [Tetralogy Of Fallot]
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Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]
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Pulmonary Atresia, Ventricular Septal Defect And Mapcas
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Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
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| Blepharophimosis |
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| Mucocele Of Appendix |
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Appendicele Mucocele
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Appendicular Mucocele
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Appendiceal Mucocele
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| Diaphragmatic Hernia, Congenital |
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Congenital Diaphragmatic Hernia
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Diaphragmatic Hernia
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Cdh
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Congenital Diaphragmatic Defect
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Hernia, Diaphragmatic
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Dih
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Hernia, Congenital Diaphragmatic
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Hcd
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Diaphragmatic Defect, Congenital
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Diaphragm, Unilateral Agenesis Of
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Hemidiaphragm, Agenesis Of
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Diaphragmatic Hernia 1
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Agenesis Of Hemidiaphragm
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Unilateral Agenesis Of Diaphragm
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Hernia Diaphragmatic
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Hernia Diaphragmatic Congenital
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Hernia, Diaphragmatic, Type 1
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Hiatus Hernia
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Oesophageal Hiatus Hernia
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Paraoesophageal Hernia
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Sliding Hiatus Hernia
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Congenital Diaphragm Hernia
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Congenital Diaphragm Defect With Hernia
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Gross Congenital Diaphragm Defect
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| Diaphragmatic Eventration |
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| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
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HLTS
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Hypotrichosis Lymphedema Telangiectasia Syndrome
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Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome
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Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
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| Cerebral Cavernous Malformations |
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Cerebral Cavernous Malformation
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Cavernous Malformations Of Cns And Retina
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Cerebral Cavernous Malformation 1
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Cavernous Angiomatous Malformations
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Cerebral Capillary Malformations
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CCM
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Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations
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Familial Cavernous Angioma
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Cavernous Angioma
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Familial Cerebral Cavernous Malformation
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Cerebral Cavernous Malformations 1
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Cavernous Angioma, Familial
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Cam
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Cerebral Cavernous Malformations-1
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Cavernoma
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Central Nervous System Cavernous Hemangioma
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Cerebral Cavernous Hemangioma
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Familial Cavernous Hemangioma
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Familial Cavernous Malformation
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Familial Cerebral Cavernous Angioma
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Intracerebral Cavernous Hemangioma
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CCM1
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Cavernous Hemangioma Of The Brain
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Cerebral Cavernoma
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Cerebral Cavernous Malformations, Type 1
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Hemangioma, Cavernous, Central Nervous System
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Hemangioma, Cavernous
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Angioma, Cavernous
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| Heart Disease |
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Heart Failure
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Congenital Heart Disease
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Heart Diseases
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Congenital Heart Defects
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Congenital Heart Defect
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Heart Malformation
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Congenital Anomaly Of Heart
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Heart Defect
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Heart-Congenital Defect
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Congenital Heart Disorder
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Heart Defects Congenital
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Heart Defects, Congenital
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Heart Defects
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Heart Disease, Congenital
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Disease, Heart, Congenital
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Congestive Heart Failure
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| Hereditary Lymphedema I |
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Lymphedema
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Hereditary Lymphedema Type I
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Congenital Primary Lymphedema
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Lmph1
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Milroy Disease
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Nonne-Milroy Lymphedema
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Pcl
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Lymphedema Hereditary Type 1
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| Atrioventricular Septal Defect |
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AVSD
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Atrioventricular Canal Defect
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Avcd
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Endocardial Cushion Defect
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Ecd
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Avc Defect
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Atrioventricular Septal Defect, Susceptibility To, 1
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Atrioventricular Septal Defect 1
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Endocardial Cushion Defects
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Septal Defect, Atrioventricular
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Atrioventricular Defect With Atrial Shunting Only
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Incomplete Atrioventricular Septal Defect With Isolated Atrial Component
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Incomplete Atrioventricular Canal Defect With Isolated Atrial Component
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Primum Atrial Septal Defect
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Partial Atrioventricular Canal Defect With Isolated Atrial Component
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Partial Atrioventricular Septal Defect, Ostium Primum Type
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Ostium Primum Atrial Septal Defect
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Partial Atrioventricular Canal Defect
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Partial Atrioventricular Septal Defect
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Atrial Septum Primum Defect
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Atrioventricular Canal Defect With Isolated Ventricular Component
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Atrioventricular Canal Defect With Isolated Ventricular Communication
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Atrioventricular Septal Defect With Isolated Ventricular Component
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Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting
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Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve
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Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves
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Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect
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Intermediate Atrioventricular Canal Defect
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Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices
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Intermediate Atrioventricular Septal Defect
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Transitional Atrioventricular Canal Defect
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Transitional Atrioventricular Septal Defect
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Complete Atrioventricular Canal With Atrial And Ventricular Components
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Complete Atrioventricular Canal Defect
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Complete Atrioventricular Septal Defect
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| Ptosis |
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Blepharoptosis
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Drooping Eyelid
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Droopy Eyelid
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Ptosis Of Eyelid
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Paralysis Of Levator Palpebrae Superioris
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| Arteriovenous Malformation |
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Arteriovenous Malformations
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Arteriovenous Hemangioma
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Cirsoid Aneurysm
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Racemose Aneurysm
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Racemose Angioma
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Racemose Hemangioma
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Congenital Arteriovenous Malformation
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| Hypoplastic Left Heart Syndrome |
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Hlhs
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Heart, Hypoplastic Left, Syndrome
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Hypoplasia Of The Left Heart
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Left Heart Hypoplasia Syndrome
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Hlhs - [Hypoplastic Left Heart Syndrome]
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Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome
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Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome
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Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle
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Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia
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Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome
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Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
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| Double Outlet Right Ventricle |
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Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect
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Taussig-Bing Syndrome
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Dextrotransposition Of Aorta
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Taussig-Bing Syndrome Or Defect
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Dorv
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Dorv With Subpulmonary Vsd
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Dorv-Tga
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Double Outlet Right Ventricle With Transposition Of The Great Arteries
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Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type
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Taussig-Bing Heart
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Taussig-Bing Malformation
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Taussig-Bing Complex
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Taussig-Bing Defect
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Taussig-Bing
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Double Outlet Right Ventricle With Remote Ventricular Septal Defect
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Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect
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Double Outlet Right Ventricle With Non-Committed Interventricular Communication
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Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis
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Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
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| 46,Xy Sex Reversal |
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Swyer Syndrome
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Pure Gonadal Dysgenesis 46,Xy
|
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Gonadal Dysgenesis, Xy Female Type
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Gonadal Dysgenesis, 46,Xy
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46,Xy Cgd
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46,Xy Complete Gonadal Dysgenesis
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46,Xy Pure Gonadal Dysgenesis
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46 Xy Gonadal Dysgenesis
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46, Xy Cgd
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46, Xy Complete Gonadal Dysgenesis
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46, Xy Pure Gonadal Dysgenesis
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Xy Pure Gonadal Dysgenesis
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Female With 46,Xy Karyotype
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Xy Females
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| Wolf-Hirschhorn Syndrome |
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Pitt-Rogers-Danks Syndrome
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WHS
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Chromosome 4p16.3 Deletion Syndrome
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Wittwer Syndrome
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4p- Syndrome
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Pitt Syndrome
|
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4p Deletion Syndrome
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Distal Deletion 4p
|
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Distal Monosomy 4p
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Telomeric Deletion 4p
|
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Prds
|
4p Syndrome
|
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Chromosome 4p Syndrome
|
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
|
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Wolf Syndrome
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Chromosome 4p Deletion Syndrome
|
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Chromosome 4p Monosomy
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Del Syndrome
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Monosomy 4p
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Partial Monosomy 4p
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Chromosome 4 Short Arm Deletion
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