| 疾病名称 |
别名 |
|
| Shwachman-Diamond Syndrome 1 |
|
Shwachman-Diamond Syndrome
|
Shwachman Syndrome
|
|
Shwachman-Bodian-Diamond Syndrome
|
Sds
|
|
Pancreatic Insufficiency And Bone Marrow Dysfunction
|
Shwachman-Bodian Syndrome
|
|
SDS1
|
Lipomatosis Of Pancreas, Congenital
|
|
Congenital Lipomatosis Of Pancreas
|
Shwachman-Diamond Type Metaphyseal Dysplasia
|
|
Metaphyseal Chondrodysplasia, Shwachman Type
|
Shwachman-Diamond-Oski Syndrome
|
|
|
| Aplastic Anemia |
|
Aplastic Anemia, Susceptibility To
|
Anemia Aplastic
|
|
Idiopathic Aplastic Anemia
|
Secondary Aplastic Anemia
|
|
Idiopathic Bone Marrow Failure
|
Aplastic Anemia Idiopathic
|
|
AA
|
Anemia, Aplastic
|
|
Aplastic Anemia, Idiopathic
|
Erythroid Aplasia
|
|
Aa - [Aplastic Anaemia]
|
Haematopoietic Aplasia
|
|
Aleukia Haemorrhagica
|
Anaemia Due To Decreased Red Cell Production
|
|
Aplasia Bone Marrow
|
Aplastic Bone Marrow
|
|
Hypoplastic Anaemia Nos
|
Myeloid Bone Marrow Aplasia
|
|
Pancytopenia
|
Panhaematopenia
|
|
Hypoproliferative Anaemia
|
Medullary Hypoplasia
|
|
Red Blood Cells Hypoplastic Anaemia
|
Panmyelophthisis
|
|
Panhemocytopenia
|
Refractive Hypoproliferative Anaemia
|
|
Toxic Anaemia
|
Toxic Aplastic Anaemia
|
|
Aplastic Anaemia Due To Toxic Cause
|
Idiopathic Aplastic Anaemia Nos
|
|
|
| Splenomegaly |
|
|
| Anodontia Of Permanent Dentition |
|
Teeth, Permanent, Absence Of
|
|
|
| Enophthalmos |
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Neutropenia |
|
|
| Metaphyseal Dysplasia |
|
Bakwin-Krida Syndrome
|
Pyle'S Disease
|
|
Pyle-Cohn Syndrome
|
|
|
| Myelodysplastic Syndrome |
|
Myelodysplastic Syndromes
|
Myelodysplasia
|
|
MDS
|
Myelodysplastic Syndrome Included
|
|
Myelodysplastic Syndrome, Susceptibility To, Included
|
Myelodysplastic Syndrome, Somatic
|
|
Myelodysplastic Syndrome, Susceptibility To
|
|
|
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Congenital Amegakaryocytic Thrombocytopenia
|
CAMT
|
|
Thrombocytopenia, Congenital Amegakaryocytic
|
Congenital Amegakaryocytic Thrombocytopenic Purpura
|
|
Thrombocytopenia Congenital Amegakaryocytic
|
Thrombocytopenia, Amegakaryocytic, Congenital
|
|
|
| Severe Congenital Neutropenia 8 |
|
Autosomal Dominant Severe Congenital Neutropenia 8 With Or Without Pancreatic Dysfunction And/Or Neurological Abnormalities
|
Scn8
|
|
Sdsl
|
Shwachman-Diamond Syndrome-Like
|
|
|
| Bowen-Conradi Syndrome |
|
BWCNS
|
Bowen Hutterite Syndrome
|
|
Bowen-Conradi Hutterite Syndrome
|
Bowen Syndrome, Hutterite Type
|
|
Bowen Hutterite Syndrome, Formerly
|
Hutterite Syndrome
|
|
Bowen Syndrome Hutterite Type
|
Fetal Growth Retardation
|
|
|
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Ane Syndrome
|
ANES
|
|
Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome
|
Alopecia-Progressive Neurological Defect-Endocrinopathy
|
|
Endocrine System Diseases
|
|
|
| Exocrine Pancreatic Insufficiency |
|
|
| Johanson-Blizzard Syndrome |
|
JBS
|
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, And Congenital Deafness
|
|
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia And Congenital Deafness
|
Johanson Blizzard Syndrome
|
|
|
| Hypomagnesemia 1, Intestinal |
|
Intestinal Hypomagnesemia 1
|
HOMG1
|
|
Hypomagnesemia With Secondary Hypocalcemia
|
Hsh
|
|
Hypomagnesemic Tetany
|
Intestinal Hypomagnesemia With Secondary Hypocalcemia
|
|
Homg
|
Hypomagnesemia Caused By Selective Magnesium Malabsorption
|
|
Hypomagnesemia Intestinal Type 1
|
Primary Hypomagnesemia With Secondary Hypocalcemia
|
|
Phsh
|
Hypomagnesemia, Intestinal, With Secondary Hypocalcemia
|
|
Familial Primary Hypomagnesemia With Hypocalcuria
|
Hypomagnesemia 1
|
|
Hypomagnesmic Tetany
|
|
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| Autosomal Dominant Severe Congenital Neutropenia |
|
Severe Congenital Neutropenia Autosomal Dominant
|
Neutropenia, Congenital, Severe, Autosomal Dominant
|
|
|
| Severe Congenital Neutropenia 4 |
|
Autosomal Recessive Severe Congenital Neutropenia Due To G6pc3 Deficiency
|
Scn4
|
|
Severe Congenital Neutropenia-Pulmonary Hypertension-Superficial Venous Angiectasis Syndrome
|
Dursun Syndrome
|
|
Severe Congenital Neutropenia Type 4
|
|
|
| Severe Congenital Neutropenia 3 |
|
Kostmann Syndrome
|
Infantile Agranulocytosis
|
|
Kostmann Disease
|
Scn3
|
|
Severe Congenital Neutropenia Type 3
|
|
|
| Common Variable Immunodeficiency |
|
Cvid
|
Common Variable Agammaglobulinemia
|
|
Common Variable Immune Deficiency
|
Acquired Hypogammaglobulinemia
|
|
Hypogamma-Globulinemia, Acquired
|
Idiopathic Immunoglobulin Deficiency
|
|
Primary Antibody Deficiency
|
Primary Hypogammaglobulinemia
|
|
Acquired Agammaglobulinemia
|
Sporadic Hypogammaglobulinemia
|
|
Common Variable Hypogamma-Globulinemia
|
Immunoglobulin Deficiency, Late-Onset
|
|
Common Variable Hypogammaglobulinemia
|
Immunodeficiency, Common Variable
|
|
|
| Cyclic Neutropenia |
|
Cyclic Hematopoiesis
|
Cyclical Neutropenia
|
|
Neutropenia Cyclic
|
Cyclic Hematopoesis
|
|
Neutropenia, Cyclic
|
Cyclic Agranulocytosis
|
|
Neutropenia, Periodic
|
Cyclic Leucopenia
|
|
Periodic Neutropenia
|
Cyclic Haematopoiesis
|
|
CH
|
Hematopoiesis, Cyclic
|
|
Neutropenia, Cyclical
|
|
|
| Dyskeratosis Congenita, X-Linked |
|
DKCX
|
X-Linked Dyskeratosis Congenita
|
|
Zinsser-Cole-Engman Syndrome
|
Hoyeraal-Hreidarsson Syndrome
|
|
Dyskeratosis Congenita X-Linked
|
HHS
|
|
Cerebellar Hypoplasia With Pancytopenia
|
Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia
|
|
Dyskeratosis Congenita
|
|
|
| Neutropenia, Severe Congenital, X-Linked |
|
X-Linked Severe Congenital Neutropenia
|
XLN
|
|
SCNX
|
Severe Congenital Neutropenia X-Linked
|
|
Neutropenia, Congenital, Severe, X-Linked
|
|
|
| Anauxetic Dysplasia 1 |
|
Anauxetic Dysplasia
|
Spondylometaepiphyseal Dysplasia, Menger Type
|
|
Spondylometaepiphyseal Dysplasia, Anauxetic Type
|
Spondyloepimetaphyseal Dysplasia, Anauxetic Type
|
|
ANXD1
|
Anxd
|
|
Spondylometaepiphyseal Dysplasia Anauxetic Type
|
Spondylometaepiphyseal Dysplasia Menger Type
|
|
Ad
|
Spondyloepimetaphyseal Dysplasia, Menger Type
|
|
Dysplasia, Anauxetic, Type 1
|
|
|
| Cartilage-Hair Hypoplasia |
|
Metaphyseal Chondrodysplasia, Mckusick Type
|
CHH
|
|
Mckusick Type Metaphyseal Chondrodysplasia
|
Metaphyseal Dysplasia Without Hypotrichosis
|
|
Cartilage Hair Hypoplasia Like Syndrome
|
Metaphyseal Chondrodysplasia Mckusick Type
|
|
Chhv
|
Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only
|
|
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency
|
Cartilage-Hair Syndrome
|
|
Mckusick'S Metaphyseal Chondrodysplasia Syndrome
|
Metaphyseal Chondrodysplasia, Recessive Type
|
|
Autosomal Recessive Metaphyseal Chondrodysplasia
|
|
|
| Severe Congenital Neutropenia |
|
Congenital Neutropenia
|
Neutropenia, Severe Congenital
|
|
Congenital Agranulocytosis
|
Infantile Genetic Agranulocytosis
|
|
Kostmann Disease
|
Kostmann'S Agranulocytosis
|
|
Kostmann'S Syndrome
|
Severe Infantile Genetic Neutropenia
|
|
|
| Diamond-Blackfan Anemia |
|
Congenital Pure Red Cell Aplasia
|
Aase Syndrome
|
|
Erythrogenesis Imperfecta
|
Anemia, Diamond-Blackfan
|
|
Congenital Hypoplastic Anemia
|
Aase-Smith Ii Syndrome
|
|
Bds
|
Blackfan-Diamond Anemia
|
|
Congenital Prca
|
Congenital Hypoplastic Anemia, Blackfan-Diamond Type
|
|
Dba
|
Blackfan - Diamond Syndrome
|
|
Chronic Constitutional Pure Red Cell Anaemia
|
Anemia Diamond Blackfan Type
|
|
Anemia Congenital Erythroid Hypoplastic
|
Aregenerative Anemia Chronic Congenital
|
|
Blackfan Diamond Syndrome
|
Red Cell Aplasia, Pure Hereditary
|
|
Aase-Smith Syndrome Ii
|
Bda
|
|
Blackfan Diamond Anemia
|
Blackfan-Diamond Disease
|
|
Blackfan-Diamond Syndrome
|
Chronic Congenital Agenerative Anemia
|
|
Congenital Erythroid Hypoplastic Anemia
|
Congenital Hypoplastic Anemia Of Blackfan And Diamond
|
|
Congenital Pure Red Cell Anemia
|
Hypoplastic Congenital Anemia
|
|
Inherited Erythroblastopenia
|
Pure Hereditary Red Cell Aplasia
|
|
Anemia, Hypoplastic, Congenital
|
Anemia Hypoplastic Congenital
|
|
Fanconi Anemia
|
Constitutional Aplastic Anemia
|
|
Diamond-Blackfan Anemia 1
|
Aase Smith Syndrome 2
|
|
Congenital Red Cell Aplasia
|
Red Cell Aplasia Of Infants
|
|
Pure Red Cell Aplasia Of Infants
|
Congenital Red Cell Aplastic Anaemia
|
|
Congenital Pure Red Cell Anaemia
|
Congenital Erythroid Hypoplasia
|
|
Pearson Marrow-Pancreas Syndrome
|
|
|
| Dyskeratosis Congenita |
|
Dyskeratosis Congenita Autosomal Dominant
|
Dc
|
|
Dkc
|
Zinsser-Engman-Cole Syndrome
|
|
Dyskeratosis Congenita, Autosomal Dominant
|
Autosomal Dominant Dyskeratosis Congenita
|
|
Dkca
|
Dyskeratosis Congenita Scoggins Type
|
|
Zinsser-Cole-Engman Syndrome
|
X-Linked Dyskeratosis Congenita
|
|
Hoyeraal-Hreidarsson Syndrome
|
|
|
| Thrombocytopenia |
|
Low Platelet Count
|
Low Platelets
|
|
Decreased Platelets
|
Platelet Dysfunction Nos
|
|
|
| Treacher Collins Syndrome 1 |
|
Treacher Collins Syndrome
|
Mandibulofacial Dysostosis
|
|
Treacher Collins-Franceschetti Syndrome
|
Tcof
|
|
Tcs
|
Mfd1
|
|
Franceschetti-Klein Syndrome
|
TCS1
|
|
Franceschetti Syndrome
|
Franceschetti-Zwahlen-Klein Syndrome
|
|
Zygoauromandibular Dysplasia
|
Treacher-Collins Syndrome
|
|
Mandibulofacial Dysostosis Without Limb Anomalies
|
Bilateral And Symmetric Oto-Mandibular Dysplasia
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Fanconi Anemia, Complementation Group A |
|
Fanconi Anemia
|
Fanconi Pancytopenia
|
|
Fanconi Anemia Complementation Group A
|
FANCA
|
|
Fa
|
Fanconi Panmyelopathy
|
|
Fanconi'S Anemia
|
Fanconi Anaemia
|
|
Fanconi'S Anaemia
|
Fanconi Hypoplastic Anemia
|
|
Estren-Dameshek Variant Of Fanconi Anemia
|
Estren-Dameshek Variant Of Fanconi Pancytopenia
|
|
Fanconi Anemia Estren-Dameshek Variant
|
Fanconis Anemia
|
|
|
