| 疾病名称 |
别名 |
|
| Lacrimoauriculodentodigital Syndrome |
|
Ladd Syndrome
|
Levy-Hollister Syndrome
|
|
Lacrimo-Auriculo-Dento-Digital Syndrome
|
LADD
|
|
Lacrimoauriculodento-Digital Syndrome
|
Levy Hollister Syndrome
|
|
Lard Syndrome
|
Lacrimoauriculoradiodental Syndrome
|
|
LADDS
|
Congenital Duodenal Obstruction Due To Malrotation Of Intestine
|
|
|
| Aplasia Of Lacrimal And Salivary Glands |
|
ALSG
|
Congenital Absence Of Lacrimal Puncta And Salivary Glands
|
|
Xerostomia
|
Absence Of Salivary Glands
|
|
Parotid Aplasia Or Hypoplasia
|
Congenital Absence Of Lacrimal Puncta Or Salivary Glands
|
|
Alsg - [Aplasia Of Lacrimal Or Salivary Glands]
|
|
|
| Pulmonary Hypoplasia, Primary |
|
Pulmonary Agenesis
|
Lung Agenesis
|
|
Primary Pulmonary Hypoplasia
|
Congenital Absence Of Lung
|
|
Congenital Lung Agenesis
|
Unilateral Lobar Pulmonary Agenesis
|
|
Unilateral Lung Agenesis
|
Absence Of Lung
|
|
Aplasia Of Lung
|
Apulmonism
|
|
Congenital Aplasia Of Lung
|
Agenesis Of Lobe Of Lung
|
|
Absence Of Lobe Of Lung
|
Congenital Absence Of Lobe Of Lung
|
|
|
| Pulmonary Hypoplasia, Familial Primary |
|
Familial Primary Pulmonary Hypoplasia
|
|
|
| Apert Syndrome |
|
Acrocephalosyndactyly Type I
|
Acs1
|
|
Acrocephalosyndactylia
|
Acrocephalosyndactyly
|
|
Acs I
|
Apert-Crouzon Disease
|
|
Acrocephalosyndactyly Type 1
|
Acrocephalosyndactyly, Type I
|
|
Acs 1
|
Acrocephalo-Syndactyly Type 1
|
|
Syndactylic Oxycephaly
|
Apert'S Syndrome
|
|
Type I Acrocephalosyndactyly
|
APRS
|
|
|
| Craniosynostosis |
|
Premature Closure Of Cranial Sutures
|
Craniostenosis
|
|
Craniosynostosis Syndrome
|
Cso
|
|
Craniosynostoses
|
Congenital Ossification Of Cranial Sutures
|
|
Congenital Ossification Of Sutures Of Skull
|
Craniostosis
|
|
Imperfect Fusion Of Skull
|
Congenital Imperfect Closure Skull
|
|
Imperfect Closure Skull
|
Premature Closure Cranium Sutures
|
|
Deficiency Of Craniofacial Axis
|
|
|
| Acanthoma |
|
|
| Pfeiffer Syndrome |
|
Infectious Mononucleosis
|
Acs5
|
|
Craniofacial-Skeletal-Dermatologic Dysplasia
|
Acs V
|
|
Noack Syndrome
|
Gammaherpesviral Mononucleosis
|
|
Acrocephalosyndactyly Type 5
|
Pfeiffer Syndrome Type 3
|
|
Acrocephalosyndactyly, Type V
|
Glandular Fever
|
|
Pfeiffer Type Acrocephalosyndactyly
|
Pfeiffer Syndrome Type 2
|
|
Acrocephalosyndactylia Type V
|
Filatov'S Disease
|
|
Monocytic Angina
|
Mononucleosis
|
|
Pfeiffer'S Disease
|
Acsv
|
|
Acrocephalosyndactyly, Type 5
|
Craniofacial-Skeletal-Dermatologic Syndrome
|
|
Pfeiffer Syndrome Type 1
|
Classic Pfeiffer Syndrome
|
|
PS
|
Pfeiffer Syndrome Variant
|
|
Dysplasia, Craniofacial-Skeletal-Dermatologic
|
Pfeiffer
|
|
Kissing Disease
|
Infectious Adenitis
|
|
Pfeiffer Disease
|
|
|
| Blastoma |
|
|
| Hypospadias |
|
Hypospadias Familial
|
Familial Hypospadias
|
|
|
| Bronchopulmonary Dysplasia |
|
|
| Cleft Lip |
|
Cheiloschisis
|
Labium Leporinum
|
|
Cleft Lip, Unilateral, Complete
|
Complete Unilateral Cleft Lip
|
|
Hare Lip
|
Congenital Fissure Of Lip
|
|
Isolated Cleft Lip
|
Cleft Lip Without Cleft Palate
|
|
Cleft Lip Without Cleft Palate, Unilateral
|
Isolated Cleft Lip, Unilateral
|
|
Cleft Lip Without Cleft Palate, Bilateral
|
Isolated Cleft Lip, Bilateral
|
|
|
| Tracheomalacia |
|
Congenital Tracheomalacia
|
Congenital Major Airway Collapse
|
|
Tracheomalacia, Congenital
|
Type 1 Tracheomalacia
|
|
|
| Duodenal Atresia |
|
Duodenal Stenosis
|
Familial Duodenal Atresia
|
|
|
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Small Patella Syndrome
|
Ischiopatellar Dysplasia
|
|
Coxopodopatellar Syndrome
|
Scott-Taor Syndrome
|
|
Sps
|
Ischiocoxopodopatellar Syndrome
|
|
Patella Aplasia, Coxa Vara, And Tarsal Synostosis
|
ICPPS
|
|
Congenital Coxa Vara, Patella Aplasia And Tarsal Synostosis
|
Coxo-Podo-Patellar Syndrome
|
|
Patella Aplasia, Coxa Vara, Tarsal Synostosis
|
Coxopodipatellar Syndrome
|
|
|
| Exudative Vitreoretinopathy 7 |
|
EVR7
|
Vitreoretinopathy, Exudative 7
|
|
Vitreoretinopathy Exudative, Type 7
|
|
|
| Cataract 23, Multiple Types |
|
Cataract 23
|
CTRCT23
|
|
Lamellar Cataract 23
|
Cataract 23, Multiple Types, With Or Without Microcornea
|
|
Isolated Microphthalmia With Cataract 4
|
Mcopct4
|
|
Cataract, Type 23
|
Microphthalmia, Isolated, With Cataract 4
|
|
|
| Chronic Inflammation Of Lacrimal Passage |
|
|
| Dacryocystocele |
|
|
| Muenke Syndrome |
|
Muenke Nonsyndromic Coronal Craniosynostosis
|
Fgfr3-Related Craniosynostosis
|
|
Fgfr3-Associated Coronal Synostosis
|
Coronal Craniosynostosis
|
|
MNKES
|
Syndrome Of Coronal Craniosynostosis
|
|
MNKS
|
Fgfr3-Related Isolated Coronal Synostosis
|
|
Muenke Non-Syndromic Coronal Craniosynostosis
|
|
|
| Mucositis |
|
Inflammatory Disease Of Mucous Membrane
|
Gastrointestinal Mucositis
|
|
|
| Mesenteric Vascular Occlusion |
|
|
| Tracheal Stenosis |
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Intestinal Atresia |
|
|
| Ectodermal Dysplasia |
|
Congenital Ectodermal Defect
|
Congenital Ectodermal Dysplasia
|
|
Ectodermal Dysplasia Syndrome
|
Dysplasia, Ectodermal
|
|
|
| Diaphragm Disease |
|
Abnormality Of The Diaphragm
|
Disease Of Diaphragm
|
|
Diaphragmatic Disorder
|
Disorder Of Diaphragm
|
|
|
| Crouzon Syndrome |
|
Crouzon Craniofacial Dysostosis
|
Craniofacial Dysostosis
|
|
Cfd1
|
Craniofacial Dysostosis Type 1
|
|
Crouzon Disease
|
Crouzon'S Disease
|
|
Craniofacial Dysostosis, Type I
|
Craniofacial Dysarthrosis
|
|
Craniofacial Dysostosis Syndrome
|
CS
|
|
Craniofacial Dysostosis Type I
|
Vogt Cephalosyndactyly
|
|
|
| Neonatal Respiratory Failure |
|
Respiratory Failure Of Newborn
|
Inadequate Pulmonary Ventilation Of Newborn
|
|
Newborn Lung Insufficiency
|
Newborn Pulmonary Function Inadequate
|
|
Newborn Pulmonary Insufficiency
|
Newborn Respiration Failure
|
|
Newborn Respiratory Insufficiency
|
Respiratory Insufficiency Syndrome Of Newborn
|
|
|
| Tracheal Disease |
|
Tracheal Diseases
|
Tracheal Anomaly
|
|
Tracheal Disorders
|
|
|
| Granulomatous Endometritis |
|
|
| Ectopic Thymus |
|
|
| Holt-Oram Syndrome |
|
HOS
|
Atriodigital Dysplasia
|
|
Heart-Hand Syndrome
|
Atrio-Digital Syndrome
|
|
Cardiac-Limb Syndrome
|
Heart-Hand Syndrome, Type 1
|
|
Ventriculo-Radial Syndrome
|
Hos1
|
|
Heart Hand Syndrome
|
Atrio Digital Syndrome
|
|
Hos 1
|
Atriodigital Dysplasia Type 1
|
|
Heart-Hand Syndrome Type 1
|
Holt Oram Syndrome
|
|
|
| Jackson-Weiss Syndrome |
|
JWS
|
Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities
|
|
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome
|
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
|
|
|
| Renal Hypodysplasia/Aplasia 1 |
|
Renal Agenesis
|
Renal Adysplasia
|
|
Renal Aplasia
|
RHDA1
|
|
Hereditary Renal Aplasia
|
Hra
|
|
Hereditary Urogenital Adysplasia
|
Hypodysplasia/Aplasia, Renal, Type 1
|
|
Congenital Absence Of Kidneys Syndrome
|
Congenital Absence Of Kidney
|
|
Aplastic Kidney
|
|
|
| Orofacial Cleft |
|
|
| Diaphragmatic Hernia, Congenital |
|
Congenital Diaphragmatic Hernia
|
Diaphragmatic Hernia
|
|
Cdh
|
Congenital Diaphragmatic Defect
|
|
Hernia, Diaphragmatic
|
Dih
|
|
Hernia, Congenital Diaphragmatic
|
Hcd
|
|
Diaphragmatic Defect, Congenital
|
Diaphragm, Unilateral Agenesis Of
|
|
Hemidiaphragm, Agenesis Of
|
Diaphragmatic Hernia 1
|
|
Agenesis Of Hemidiaphragm
|
Unilateral Agenesis Of Diaphragm
|
|
Hernia Diaphragmatic
|
Hernia Diaphragmatic Congenital
|
|
Hernia, Diaphragmatic, Type 1
|
Hiatus Hernia
|
|
Oesophageal Hiatus Hernia
|
Paraoesophageal Hernia
|
|
Sliding Hiatus Hernia
|
Congenital Diaphragm Hernia
|
|
Congenital Diaphragm Defect With Hernia
|
Gross Congenital Diaphragm Defect
|
|
|
| Developmental And Epileptic Encephalopathy 24 |
|
DEE24
|
Epileptic Encephalopathy, Early Infantile, 24
|
|
Eiee24
|
Developmental And Epileptic Encephalopathy, 24
|
|
Early Infantile Epileptic Encephalopathy 24
|
Encephalopathy, Epileptic, Early Infantile, Type 24
|
|
|
| Myopia |
|
Near-Sightedness
|
Short-Sightedness
|
|
Nearsightedness
|
Nearsighted
|
|
Near Vision
|
Close Sighted
|
|
Myopic
|
Short-Sighted
|
|
Near Sighted
|
|
|
| Breast Cancer |
|
Breast Carcinoma
|
Male Breast Cancer
|
|
Breast Cancer, Familial
|
Malignant Neoplasm Of Breast
|
|
Breast Cancer, Susceptibility To
|
Breast Cancer, Early-Onset
|
|
Malignant Tumor Of Breast
|
Carcinoma Of Male Breast
|
|
Breast Cancer, Invasive Ductal
|
Breast Cancer, Protection Against
|
|
Breast Cancer, Somatic
|
Breast Cancer, Male
|
|
Breast Cancer, Lobular, Somatic
|
Breast Tumor
|
|
Mammary Cancer
|
Mammary Tumor
|
|
Malignant Neoplasm Of Male Breast
|
Mammary Carcinoma
|
|
Male Breast Carcinoma
|
Familial Cancer Of Breast
|
|
Invasive Ductal Breast Carcinoma
|
Breast Cancer Susceptibility
|
|
Breast Cancer, Male, Susceptibility To
|
Breast Cancer, Early-Onset, Susceptibility To
|
|
Malignant Tumor Of The Breast
|
Mammary Neoplasm
|
|
Primary Breast Cancer
|
Neoplasm Of Male Breast
|
|
Carcinoma Of Breast
|
Breast Cancer In Men
|
|
Familial Breast Cancer
|
Cancer Of Breast
|
|
BC
|
Breast Cancer Familial
|
|
Breast Cancer Familial Male
|
Breast Cancer, Familial Male
|
|
Breast Male Carcinoma
|
Breast Neoplasms
|
|
Breast Neoplasms, Male
|
Mammary Tumors
|
|
Mammary Carcinomas
|
Cancer, Breast
|
|
Cancer, Breast, Susceptibility
|
Invasive Breast Ductal Carcinoma
|
|
Breast Neoplasm
|
Susceptibility To Breast Cancer
|
|
Mammary Neoplasms
|
Animal Mammary Neoplasms
|
|
Primary Malignant Neoplasm Of Breast
|
Infiltrating Ductal Carcinoma Of Breast
|
|
Infiltrating Duct Carcinoma Of Unspecified Site
|
Infiltrating Ductular Carcinoma Of Unspecified Site
|
|
Invasive Breast Carcinoma Of No Special Type
|
Microinvasive Carcinoma Of Breast
|
|
Carcinoma With Apocrine Differentiation
|
|
|
| Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Hypohidrotic Ectodermal Dysplasia
|
Hed
|
|
Anhidrotic Ectodermal Dysplasia
|
Ectodermal Dysplasia, Hypohidrotic
|
|
Eda
|
Christ-Siemens-Touraine Syndrome
|
|
ECTD10B
|
Ectodermal Dysplasia Anhidrotic
|
|
Ectodermal Dysplasia, Anhidrotic
|
Cst Syndrome
|
|
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive
|
Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive
|
|
Dysplasia, Ectodermal, Hypohidrotic
|
Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
|
|
Ectodermal Dysplasia 3, Anhidrotic
|
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
|
|
|
| Double Outlet Right Ventricle |
|
Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect
|
Taussig-Bing Syndrome
|
|
Dextrotransposition Of Aorta
|
Taussig-Bing Syndrome Or Defect
|
|
Dorv
|
Dorv With Subpulmonary Vsd
|
|
Dorv-Tga
|
Double Outlet Right Ventricle With Transposition Of The Great Arteries
|
|
Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type
|
Taussig-Bing Heart
|
|
Taussig-Bing Malformation
|
Taussig-Bing Complex
|
|
Taussig-Bing Defect
|
Taussig-Bing
|
|
Double Outlet Right Ventricle With Remote Ventricular Septal Defect
|
Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect
|
|
Double Outlet Right Ventricle With Non-Committed Interventricular Communication
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis
|
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
|
|
|
| Branchiooculofacial Syndrome |
|
Branchio-Oculo-Facial Syndrome
|
BOFS
|
|
Bof Syndrome
|
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
|
|
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
|
Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging
|
|
Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging
|
Bofs Syndrome
|
|
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
|
|
|
| Tooth Agenesis |
|
Oligodontia
|
Hypodontia
|
|
Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
|
Familial Tooth Agenesis
|
Anodontia
|
|
Congenital Absence Of One Tooth
|
|
|
| Esophageal Atresia |
|
Tracheoesophageal Fistula
|
Congenital Atresia Of Esophagus
|
|
Congenital Imperforate Esophagus
|
Imperforate Esophagus
|
|
Oesophageal Atresia
|
Te Fistula
|
|
Tef
|
Tracheoesophageal Fistula With Or Without Esophageal Atresia
|
|
|
| Tetralogy Of Fallot |
|
TOF
|
Fallot Tetralogy
|
|
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle
|
Tetrad Of Fallot
|
|
Fallot Tetrad
|
Fallot Disease
|
|
Fallot Complex
|
Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
|
|
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle
|
Interventricular Septal Defect, In Tetralogy Of Fallot
|
|
Ventricular Septal Defect With Obstructed Right Ventricular Outflow
|
Tof - [Tetralogy Of Fallot]
|
|
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]
|
Pulmonary Atresia, Ventricular Septal Defect And Mapcas
|
|
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
|
|
|
| Interstitial Lung Disease 2 |
|
Idiopathic Pulmonary Fibrosis
|
Ipf
|
|
Fibrocystic Pulmonary Dysplasia
|
Pulmonary Fibrosis, Idiopathic
|
|
Pulmonary Fibrosis, Idiopathic, Susceptibility To
|
Cryptogenic Fibrosing Alveolitis
|
|
ILD2
|
Idiopathic Pulmonary Fibrosis, Familial
|
|
Fibrosing Alveolitis, Cryptogenic
|
Uip
|
|
Fibrosing Alveolitis
|
Interstitial Pneumonitis, Usual
|
|
Familial Idiopathic Pulmonary Fibrosis
|
Idiopathic Fibrosing Alveolitis, Chronic Form
|
|
Usual Interstitial Pneumonia
|
Fibrosing Alveolitis Cryptogenic
|
|
Hamman-Rich Disease
|
Idiopathic Pulmonary Fibrosis Familial
|
|
Interstitial Pneumonitis Usual
|
Fibrosis Idiopathic Pulmonary
|
|
Fibrosis, Pulmonary, Idiopathic
|
Hamman-Rich Syndrome
|
|
Chronic Idiopathic Pulmonary Fibrosis
|
Acute Interstitial Pneumonia
|
|
Interstitial Pulmonary Fibrosis
|
Ipf - [Idiopathic Pulmonary Fibrosis]
|
|
Idiopathic Lung Fibrosis
|
Fibrosing Lung Disease
|
|
Pulmonary Fibrosis Nos
|
Fibrosing Pneumonitis
|
|
|
