| 疾病名称 |
别名 |
|
| Schinzel-Giedion Midface Retraction Syndrome |
|
Schinzel-Giedion Syndrome
|
Sgs
|
|
Schinzel Giedion Syndrome
|
Schinzel Giedion Midface-Retraction Syndrome
|
|
SGMFS
|
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
MRD29
|
Autosomal Dominant Non-Syndromic Intellectual Disability 29
|
|
Mental Retardation, Autosomal Dominant 29
|
Autosomal Dominant Intellectual Developmental Disorder 29
|
|
Autosomal Dominant Mental Retardation 29
|
Mental Retardation, Autosomal Dominant, Type 29
|
|
|
| Setbp1 Haploinsufficiency Disorder |
|
Setbp1 Disorder
|
Setbp1-Related Disorder
|
|
Setbp1 Related Developmental Delay
|
Setbp1-Related Intellectual Disability
|
|
Intellectual Disability, Autosomal Dominant 29
|
Autosomal Dominant Intellectual Disability 29
|
|
Mental Retardation, Autosomal Dominant 29
|
Mrd29
|
|
|
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Intellectual Disability-Loss Of Expressive Language-Facial Dysmorphism Syndrome
|
|
|
| Fetal Akinesia Deformation Sequence 1 |
|
Fetal Akinesia Deformation Sequence
|
Fads
|
|
Fetal Akinesia Sequence
|
FADS1
|
|
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia
|
Pena-Shokeir Syndrome Type 1
|
|
Fetal Akinesia Deformation Sequence Syndrome
|
Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
|
|
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia
|
Pena-Shokeir Syndrome, Type I
|
|
Foetal Akinesia Deformation Sequence Syndrome
|
Foetal Akinesia Sequence
|
|
Fetal Akinesia Deformation Sequence Syndrome 1
|
Pena-Shokeir Syndrome, Type 1
|
|
Pena Shokeir Syndrome, Type 1
|
Akinesia, Fetal, Deformation Sequence
|
|
Akinesia, Fetal, Deformation Sequence, Type 1
|
Pena-Shokeir Syndrome Type I
|
|
|
| Juvenile Myelomonocytic Leukemia |
|
Leukemia, Juvenile Myelomonocytic
|
JMML
|
|
Leukemia, Juvenile Myelomonocytic, Somatic
|
Juvenile Chronic Myelomonocytic Leukemia
|
|
Juvenile Chronic Myelogenous Leukemia
|
Leukemia, Myelomonocytic, Juvenile
|
|
Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
|
|
|
| Distal Arthrogryposis |
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
|
Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
|
Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
|
Otto Syndrome
|
Rocher-Sheldon Syndrome
|
|
Rossi Syndrome
|
Amc
|
|
Multiple Congenital Arthrogryposis
|
Arthrogryposis Syndrome
|
|
Arthrogryposis, Distal
|
Distal Arthrogryposis Syndrome
|
|
Freeman-Sheldon Syndrome
|
Arthrogryposis, Distal, Type 2b
|
|
Congenital Multiplex Arthrogryposis
|
Amyoplasia Congenita
|
|
Congenital Amyoplasia
|
Amc - [Arthrogryposis Multiplex Congenita]
|
|
|
| Leukemia, Chronic Myeloid |
|
Chronic Myeloid Leukemia
|
Chronic Myelogenous Leukemia
|
|
CML
|
Chronic Granulocytic Leukemia
|
|
Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib
|
Chronic Myeloid Leukaemia
|
|
Chronic Granulocytic Leukaemia
|
Chronic Myelogenous Leukaemia
|
|
Myeloid Leukemia, Chronic
|
Leukemia, Chronic Myelogenous
|
|
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic
|
Cml - Chronic Myelogenous Leukemia
|
|
Cgl
|
Chronic Myelocytic Leukemia
|
|
Leukemia, Chronic Myeloid, Atypical
|
ACML
|
|
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative
|
Myeloid Leukemia Chronic
|
|
Leukemia, Myeloid, Chronic
|
Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative
|
|
Cml- [Chronic Myeloid Leukaemia]
|
Cgl - [Chronic Granulocytic Leukaemia]
|
|
Chronic Myelocytic Leukaemia
|
|
|
| Myelodysplastic Syndrome |
|
Myelodysplastic Syndromes
|
Myelodysplasia
|
|
MDS
|
Myelodysplastic Syndrome Included
|
|
Myelodysplastic Syndrome, Susceptibility To, Included
|
Myelodysplastic Syndrome, Somatic
|
|
Myelodysplastic Syndrome, Susceptibility To
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Leukemia, Acute Myeloid |
|
Acute Myeloid Leukemia
|
Leukemia, Acute Myelogenous
|
|
Acute Myelogenous Leukemia
|
AML
|
|
Leukemia, Acute Myeloid, Susceptibility To
|
Acute Myeloblastic Leukemia
|
|
Leukemia, Acute Myeloid, Reduced Survival In, Somatic
|
Acute Myeloid Leukaemia
|
|
Leukemia, Myelocytic, Acute
|
Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
|
|
Secondary Aml
|
Acute Myelocytic Leukemia
|
|
Acute Myeloid Leukemia, Somatic
|
Leukemia, Acute Myeloid, Somatic
|
|
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic
|
Acute Myeloblastic Leukaemia
|
|
Acute Myelogenous Leukaemia
|
Aml - Acute Myeloid Leukemia
|
|
Acute Myeloid Leukemia With Cebpa Somatic Mutations
|
Aml With Cebpa Somatic Mutations
|
|
Inherited Acute Myeloid Leukemia
|
Familial Aml
|
|
Inherited Aml
|
Pure Familial Aml
|
|
Pure Familial Acute Myeloid Leukemia
|
Secondary Acute Myeloid Leukemia
|
|
Therapy-Related Aml And Myelodysplastic Syndrome
|
Acute Myeloid Leukemia, Secondary
|
|
Acute Non-Lymphoblastic Leukemia
|
Acute Non-Lymphocytic Leukemia
|
|
Acute Biphenotypic Leukemia
|
Acute Undifferentiated Leukemia
|
|
Acute Myeloblastic Leukaemia With Multilineage Dysplasia
|
Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
|
|
Acute Myeloid Leukaemia With Myelodysplasia-Related Features
|
|
|
| Hydronephrosis |
|
Stricture Of Ureteropelvic Junction With Hydronephrosis
|
Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified
|
|
|
| Nail Disease |
|
Nail Diseases
|
Abnormality Of The Nail
|
|
Nail Anomaly
|
|
|
| Cerebral Atrophy |
|
|
| Teratoma |
|
|
| Staphyloenterotoxemia |
|
Staphylococcal Food Poisoning
|
Staphylococcal Toxaemia Due To Food
|
|
Staphyloenterotoxicosis
|
|
|
| Atrial Heart Septal Defect |
|
Atrial Septal Defect
|
Atrial Septal Defects
|
|
Atrioseptal Defect
|
Auricular Septal Defect
|
|
Congenital Atrial Septal Defect
|
Interatrial Septal Defect
|
|
Interauricular Septal Defect
|
Heart Septal Defects, Atrial
|
|
Septal Defect, Atrial
|
|
|
| Chronic Myelomonocytic Leukemia |
|
Leukemia, Myelomonocytic, Chronic
|
Cmml
|
|
Leukemia Myelomonocytic Chronic
|
Cmml - [Chronic Myelomonocytic Leukaemia]
|
|
Chronic Myelomonocytic Leukaemia Without Mention Of Remission
|
Chronic Monocytic Leukaemia
|
|
Chronic Monocytoid Leukaemia
|
|
|
| Interatrial Communication |
|
Asd
|
Atrial Septal Defect
|
|
Interauricular Communication
|
|
|
| Refractory Anemia With Excess Blasts |
|
|
| Commensal Bacterial Infectious Disease |
|
|
| Refractory Cytopenia With Multilineage Dysplasia |
|
|
| Myelodysplastic/Myeloproliferative Neoplasm |
|
Myelodysplastic-Myeloproliferative Diseases
|
Myelodysplastic/Myeloproliferative Disease
|
|
Myelodysplastic Myeloproliferative Cancer
|
Myelodysplastic Myeloproliferative Disease
|
|
Myeloproliferative/Myelodysplastic Syndromes
|
|
|
| Lymphoma |
|
Lymphoid Cancer
|
Lymphomas
|
|
Lymphoid Cancers
|
Lymphoid Neoplasm
|
|
Lymphoma Nos
|
Nhl - [Non-Hodgkin Lymphoma]
|
|
Non-Hodgkin Lymphoma
|
Non-Hodgkin Lymphoma, Nos
|
|
Non-Hodgkin Malignant Lymphoma Nos
|
|
|
| Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative |
|
Atypical Chronic Myeloid Leukemia
|
Atypical Chronic Myeloid Leukaemia
|
|
Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative
|
Acml
|
|
Atypical Chronic Myeloid Leukaemia Bcr-Abl1 Negative
|
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative
|
|
Atypical Cml
|
Subacute Myeloid Leukemia
|
|
Subacute Myelogenous Leukaemia
|
Subacute Myeloid Leukaemia
|
|
Subacute Myelosis
|
Atypical Chronic Myeloid Leukaemia, Bcr-Abl-Negative Without Mention Of Remission
|
|
Subacute Monocytic Leukaemia Without Mention Of Remission
|
Subacute Monocytic Leukaemia
|
|
|
| Acute Leukemia |
|
Stem Cell Leukaemia
|
Stem Cell Leukemia
|
|
Acute Leukemias
|
Acute Undifferentiated Leukemia
|
|
Undifferentiated Leukemia
|
Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission
|
|
Blast Cell Leukaemia
|
Blast Leukaemia
|
|
Blastic Leukaemia
|
Undifferentiated Leukaemia
|
|
|
| Developmental And Epileptic Encephalopathy 60 |
|
DEE60
|
Epileptic Encephalopathy, Early Infantile, 60
|
|
Eiee60
|
Developmental And Epileptic Encephalopathy, 60
|
|
Early Infantile Epileptic Encephalopathy 60
|
|
|
| Chronic Neutrophilic Leukemia |
|
Cnl
|
Leukemia Neutrophilic Chronic
|
|
|
| Myeloid Leukemia |
|
Myeloid Leukaemia
|
Leukaemia Myelogenous
|
|
Leukemia Myelogenous
|
Myeloid Granulocytic Leukaemia
|
|
Myeloid Granulocytic Leukemia
|
Non-Lymphocytic Leukemia
|
|
Leukemia, Myeloid
|
Granulocytic Leukaemia
|
|
Myelogenous Leukaemia
|
Myeloid Leukaemia, Unspecified, Without Mention Of Remission
|
|
|
| Ritter'S Disease |
|
Staphylococcal Scalded Skin Syndrome
|
Pemphigus Neonatorum
|
|
Ritter Disease
|
Dermatitis Exfoliativa Neonatorum
|
|
Scalded Skin Syndrome
|
Toxic Epidermal Necrolysis, Subcorneal Type
|
|
Generalized Exfoliative Disease
|
Ssss
|
|
Ssss - [Staphylococcal Scalded Skin Syndrome]
|
|
|
| Chronic Leukemia |
|
Adult Chronic Leukemia
|
Cll
|
|
Cml
|
|
|
| Pyomyositis |
|
Tropical Pyomyositis
|
Myositis Tropicans
|
|
Myositis Purulenta Tropica
|
Pm
|
|
Suppurative Myositis
|
Purulent Myositis
|
|
|
| Myelofibrosis |
|
Primary Myelofibrosis
|
Agnogenic Myeloid Metaplasia
|
|
Idiopathic Myelofibrosis
|
Myeloid Metaplasia
|
|
Myelofibrosis With Myeloid Metaplasia
|
Osteomyelofibrosis
|
|
Megakaryocytic Myelosclerosis
|
Myelosclerosis
|
|
Chronic Idiopathic Myelofibrosis
|
Myelofibrosis, Idiopathic
|
|
Myelofibrosis With Myeloid Metaplasia, Somatic
|
Myelofibrosis, Somatic
|
|
Aleukemic Myelosis
|
Bone Marrow Fibrosis
|
|
MYELOF
|
MMM
|
|
Agnogenic Myeloid Metaplasia With Myelofibrosis
|
Ammm
|
|
Myelosclerosis With Myeloid Metaplasia
|
Myelofibrosis Nos
|
|
|
| Postaxial Acrofacial Dysostosis |
|
Miller Syndrome
|
POADS
|
|
Genee-Wiedemann Syndrome
|
Postaxial Acrodysostosis
|
|
Genee-Wiedemann Acrofacial Dysostosis
|
Acrofacial Dysostosis, Genee-Wiedmann Type
|
|
Mandibulfacial Dysostosis With Postaxial Limb Anomalies
|
Gwafd
|
|
Poads Syndrome
|
Postaxial Acrofacial Dysostosis Syndrome
|
|
Wildervanck-Smith Syndrome
|
Acrofacial Dysostosis, Genee-Wiedemann Type
|
|
Mandibulofacial Dysostosis With Postaxial Limb Anomalies
|
Genée-Wiedemann Syndrome
|
|
Chromosome 11p Deletion Syndrome
|
|
|
| Immunodeficiency 21 |
|
Monocytopenia And Mycobacterial Infection Syndrome
|
Monomac
|
|
Gata2 Deficiency
|
Monocytopenia With Susceptibility To Infections
|
|
Dcml
|
IMD21
|
|
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency
|
Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia
|
|
Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections
|
Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections
|
|
Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency
|
Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome
|
|
Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia
|
Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections
|
|
Monocyte - B - Natural Killer - Dendritic Cell Deficiency
|
Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections
|
|
Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency
|
Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia
|
|
|
| Scarlet Fever |
|
Scarlatina
|
Scarlatina Nos
|
|
|
| Granulomatous Disease, Chronic, X-Linked |
|
CGDX
|
Chronic Granulomatous Disease, X-Linked
|
|
X-Linked Chronic Granulomatous Disease
|
Cgd
|
|
Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked
|
Cdgx
|
|
X-Linked Chronic Cytochrome B-Negative Granulomatous Disease
|
Chronic Granulomatous Disease Cytochrome B-Negative X-Linked
|
|
Chronic Granulomatous Disease Cytochrome B-Positive X-Linked
|
Granulomatous Disease, Chronic, X-Linked, Variant
|
|
|
| Chronic Eosinophilic Leukemia |
|
Pdgfra-Associated Chronic Eosinophilic Leukemia
|
|
|
| Endocardium Disease |
|
|
| Developmental And Epileptic Encephalopathy 11 |
|
Epileptic Encephalopathy, Early Infantile, 11
|
DEE11
|
|
Eiee11
|
Developmental And Epileptic Encephalopathy, 11
|
|
Early Infantile Epileptic Encephalopathy 11
|
Encephalopathy, Developmental And Epileptic, Type 11
|
|
|
| Essential Thrombocythemia |
|
Essential Thrombocytosis
|
Familial Thrombocytosis
|
|
Hemorrhagic Thrombocythemia
|
Hereditary Thrombocythemia
|
|
Primary Thrombocytosis
|
Idiopathic Thrombocythemia
|
|
Primary Thrombocythemia
|
Thrombocythemia, Essential
|
|
Essential Thrombocythaemia
|
Et
|
|
Familial Thrombocythemia
|
Thrombocythemia Essential
|
|
|
| Rasopathy |
|
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
| West Syndrome |
|
Infantile Spasms
|
Infantile Spasms Syndrome
|
|
Infantile Spasm
|
X-Linked Infantile Spasm Syndrome
|
|
X-Linked Infantile Spasms
|
Epileptic Encephalopathy, Early Infantile, 1
|
|
Is
|
Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
|
|
West'S Syndrome
|
Spasms, Infantile
|
|
Is -[Infantile Spasm]
|
Salaam Spasm
|
|
Salaam Tic
|
|
|
| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
|
Turner Syndrome In Female With X Chromosome
|
Turner-Like Syndrome
|
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
