| 疾病名称 |
别名 |
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| Schwannomatosis 2 |
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SWNTS2
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Schwannomatosis-2, Susceptibility To
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Schwannomatosis-2
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| Noonan Syndrome 10 |
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NS10
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Noonan Syndrome, Type 10
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| Noonan Syndrome 2 |
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NS2
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Noonan Syndrome, Autosomal Recessive
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Noonan Syndrome 2, Autosomal Recessive
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Noonan Syndrome, Type 2
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| Nuchal Bleb, Familial |
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Fetal Cystic Hygroma
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Cystic Hygroma, Fetal
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Fch
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Lymphangioma, Cystic
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| Noonan Syndrome And Noonan-Related Syndrome |
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| Giant Cell Glioblastoma |
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| Rasopathy |
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Ras/Mitogen-Activated Protein Kinase Syndrome
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| Gliosarcoma |
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Glioblastoma With Sarcomatous Component
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Sarcomatous Glioblastoma
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| Glioma Susceptibility 1 |
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Astrocytoma
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GLM1
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Glioma, Susceptibility To, Somatic
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Glioblastoma, Somatic
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Glioma
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Glioblastoma Multiforme
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Oligodendroglioma
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Glioma Somatic
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Astrocytic Tumor
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GLM
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Familial Glioma Of Brain
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Gbm
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Glioma 1
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Glioma, Susceptibility, Type 1
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Cerebral Astrocytoma
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Glioblastoma
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Well Differentiated Oligodendroglioma
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| Neurilemmomatosis |
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Schwannomatosis
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Neurofibromatosis Type 3
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Nf3
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Neurilemmomatosis Congenital Cutaneous
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Neurinomatosis
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Congenital Cutaneous Neurilemmomatosis
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Multiple Neurilemmomas
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Multiple Schwannomas
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Neurilemmomatosis, Congenital Cutaneous
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Schwannomatosis 1
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Neurofibromatosis 3
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Mixed Central And Peripheral Neurofibromatosis
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Nf3 - [Neurofibromatosis Type 3]
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| Noonan Syndrome 1 |
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Noonan Syndrome
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NS1
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Male Turner Syndrome
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Female Pseudo-Turner Syndrome
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Turner Phenotype With Normal Karyotype
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Noonan Syndrome With Pigmented Villonodular Synovitis
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Turner'S Phenotype, Karyotype Normal
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Familial Turner Syndrome
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Noonan'S Syndrome
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Noonan-Ehmke Syndrome
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Ns
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Pseudo-Ullrich-Turner Syndrome
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Turner Syndrome In Female With X Chromosome
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Turner-Like Syndrome
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Ullrich-Noonan Syndrome
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Noonan-Like/Multiple Giant Cell Lesion Syndrome
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Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
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Pterygium Colli Syndrome
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Noonan Syndrome, Type 1
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Turner Syndrome, Male
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| Digeorge Syndrome |
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Chromosome 22q11.2 Deletion Syndrome
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DGS
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Hypoplasia Of Thymus And Parathyroids
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Third And Fourth Pharyngeal Pouch Syndrome
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22q11.2 Deletion Syndrome
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Digeorge Sequence
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Digeorge'S Syndrome
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Pharyngeal Pouch Syndrome
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Di-George Syndrome
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Shprintzen Syndrome
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| Pseudo-Turner Syndrome |
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| Bladder Exstrophy |
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Exstrophy Of The Bladder
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Classic Exstrophy Of The Bladder
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| Peripheral Nerve Schwannoma |
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| Optic Nerve Sheath Meningioma |
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Meningioma Of Optic Nerve Sheath
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| Hypertrophic Cardiomyopathy |
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Hypertrophic Obstructive Cardiomyopathy
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Cardiomyopathy, Hypertrophic
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Cardiomyopathy Hypertrophic Obstructive
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Cardiomyopathy, Hypertrophic, Familial
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Idiopathic Myocardial Hypertrophy
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Idiopathic Hypertrophic Cardiomyopathy
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Obstructive Idiopathic Hypertrophic Cardiomyopathy
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Obstructive Cardiomyopathy
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Idiopathic Hypertrophic Subaortic Stenosis
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Muscular Subaortic Stenosis
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Hypertrophic Obstructive Subaortic Stenosis
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| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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Noonan-Like Syndrome With Loose Anagen Hair
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Mazzanti Syndrome
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Ns/Lah
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| Optic Nerve Neoplasm |
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Optic Nerve Neoplasms
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Neoplasm Of Optic Nerve
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Tumor Of Second Cranial Nerve
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Tumour Of Optic Nerve
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| Juvenile Myelomonocytic Leukemia |
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Leukemia, Juvenile Myelomonocytic
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JMML
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Leukemia, Juvenile Myelomonocytic, Somatic
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Juvenile Chronic Myelomonocytic Leukemia
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Juvenile Chronic Myelogenous Leukemia
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Leukemia, Myelomonocytic, Juvenile
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Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
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| Spinal Meningioma |
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Spinal Cord Meningioma
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Meningioma, Spine
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Meningioma
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Meningioma, Benign, No Icd-O Subtype
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| Spinal Canal And Spinal Cord Meningioma |
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| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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| Pulmonary Valve Disease |
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| Pulmonary Valve Stenosis |
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Valvular Pulmonary Stenosis
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Heart Valve Pulmonary Stenosis
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Valvar Pulmonary Stenosis
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Valvate Pulmonary Stenosis
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Pulmonary Stenosis
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Pulmonary Valve Stricture
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Pulmonic Valve Stenosis
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Ps - [Pulmonary Valve Stenosis]
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Pvs - [Pulmonary Valve Stenosis]
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Pulmonary Valvular Stricture
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Pulmonary Valvular Stenosis
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Pulmonary Valvular Obstruction
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Pulmonary Valve Obstruction
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Obstructed Pulmonary Valve
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| Spinal Cancer |
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Spinal Cord Neoplasm
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Spinal Cord Neoplasms
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Spinal Neoplasms
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Intraspinal Tumor
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Malignant Tumor Of The Spinal Cord
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Spinal Cord Cancer
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Spinal Neoplasm
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Tumor Of The Spinal Cord
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Tumors Spinal Cord
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Intraspinal Neoplasm
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Spinal Cord--Cancer
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| Acoustic Neuroma |
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Neurofibromatosis Type 2
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Vestibular Schwannoma
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Acoustic Neurinoma
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Bilateral Acoustic Neurofibromatosis
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Nf2
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Acoustic Neurilemoma
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Cerebellopontine Angle Tumor
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Neurofibromatosis Central Type
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Neurofibromatosis Type Ii
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Vestibular Neurilemmoma
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Acoustic Tumor
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Neurinoma Of The Acoustic Nerve
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Acoustic Neurinoma Bilateral
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Acoustic Schwannomas Bilateral
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Banf
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Central Neurofibromatosis
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Familial Acoustic Neuromas
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Neurofibromatosis 2
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Neurofibromatosis Type 2 Merlin
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Schwannoma, Acoustic, Bilateral
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Neuroma Acoustic
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Neuroma, Acoustic
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Familial Acoustic Neuroma
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Familial Vestibular Schwannoma
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Neurofibromatosis, Central Type
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Nf2 - [Neurofibromatosis Type 2]
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| Plexiform Schwannoma |
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Plexiform Neurilemmoma
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Plexiform Neurinoma
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| Chromosome 22q11.2 Duplication Syndrome |
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Chromosome 22q11.2 Microduplication Syndrome
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22q11.2 Microduplication Syndrome
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22q11.2 Duplication Syndrome
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Duplication 22q11.2
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Trisomy 22q11.2
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22q11.2 Duplication
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Dup(22)(Q11)
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| Noonan Syndrome With Multiple Lentigines |
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Leopard Syndrome
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Multiple Lentigines Syndrome
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Moynahan Syndrome
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Cardiomyopathic Lentiginosis
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Progressive Cardiomyopathic Lentiginosis
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Cardio-Cutaneous Syndrome
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Lentiginosis Profusa
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Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome
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Generalized Lentiginosis
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Gorlin Syndrome Ii
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Lentiginosis Profusa Syndrome
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Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes
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Diffuse Lentiginosis
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Nsml
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Familial Multiple Lentigines Syndrome
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Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type
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Progressive Cardiomyopathic Lentiginosis Syndrome
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Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan
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| Neurilemmoma |
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Schwannoma
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Benign Schwannoma
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Neurilemoma
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Peripheral Fibroblastoma
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Psammomatous Schwannoma
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Neurolemmoma
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Schwannomas
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| Cardiofaciocutaneous Syndrome 1 |
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Cardiofaciocutaneous Syndrome
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Cfc Syndrome
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Cardio-Facio-Cutaneous Syndrome
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CFC1
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Cfcs
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Cardio-Facial-Cutaneous Syndrome
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Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure
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Cardiofaciocutaneous Syndrome, Type 1
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| Plexiform Neurofibroma |
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Neurofibroma Plexiform
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Neurofibroma, Plexiform
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| Neurofibromatosis-Noonan Syndrome |
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NFNS
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Neurofibromatosis Type 1
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Neurofibromatosis With Noonan Phenotype
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Nf1
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Von Recklinghausen Disease
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Neurofibromatosis Type 1-Noonan Syndrome
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Noonan Neurofibromatosis Syndrome
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Recklinghausen'S Disease
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Noonan-Neurofibromatosis Syndrome
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Fibromatosis Multiple Non Ossifying
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Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots
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Jaffe Campanacci Syndrome
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Type 1 Neurofibromatosis
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Neurofibromatosis 1
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Peripheral Neurofibromatosis
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Recklinghausen Disease, Nerve
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Jaffe-Campanacci Syndrome
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| Van Den Ende-Gupta Syndrome |
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VDEGS
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Blepharophimosis, Arachnodactyly, And Congenital Contractures
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Marden-Walker-Like Syndrome
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Marden-Walker-Like Syndrome Without Psychomotor Retardation
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Marden Walker Like Syndrome
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Marden-Walker-Like Syndrome Without Psychmotor Retardation
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Van Den Ende Gupta Syndrome
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Marden Walker Like Syndrome Without Psychomotor Retardation
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Blepharophimosis Arachnodactyly And Congenital Contractures
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| Costello Syndrome |
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Faciocutaneoskeletal Syndrome
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Fcs Syndrome
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Congenital Myopathy With Excess Of Muscle Spindles
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CSTLO
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CMEMS
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Fcss
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Myopathy, Congenital, With Excess Of Muscle Spindles
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| Intracranial Meningioma |
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| Atypical Neurofibroma |
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| Neuroma |
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| Neurofibromatosis, Type Ii |
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Neurofibromatosis 2
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Neurofibromatosis, Type 2
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NF2
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Neurofibromatosis Type Ii
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Bilateral Acoustic Neurofibromatosis
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Banf
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Acn
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Central Neurofibromatosis
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Neurofibromatosis, Central Type
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Acoustic Schwannomas, Bilateral
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Acoustic Neurinoma, Bilateral
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Bilateral Acoustic Neurinoma
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Bilateral Acoustic Schwannomas
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Familial Acoustic Neuromas
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| Cystic Lymphangioma |
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Cystic Hygroma
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Cavernous Lymphangioma
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Macrocystic Lymphatic Malformation
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Cavernous Lymphatic Malformation
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Macrocystic Lymphangioma
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Lymphangioma, Cystic
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| Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex |
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Exstrophy-Epispadias Complex
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Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex
|
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Beec
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Eec
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Exstrophy Of The Bladder
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Bladder Exstrophy
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Bladder Exstrophy And Epispadias Complex
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| Chromosome 22q11.2 Deletion Syndrome, Distal |
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22q11.2 Deletion Syndrome
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Autosomal Dominant Opitz G/Bbb Syndrome
|
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Catch22
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Cayler Cardiofacial Syndrome
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Conotruncal Anomaly Face Syndrome
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Digeorge Syndrome
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Sedlackova Syndrome
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Shprintzen Syndrome
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Velocardiofacial Syndrome
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22q11.2 Distal Deletion Syndrome
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Distal 22q11.2 Microdeletion Syndrome
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22q11.2ds
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Vcfs
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Velo-Cardio-Facial Syndrome
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Distal Chromosome 22q11.2 Deletion Syndrome
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Chromosome 22q11.2 Deletion Syndrome Distal
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Chromosome 22q11.2 Deletion Syndrome
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Deletion 22q11.2 Syndrome
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22q11ds
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Catch 22
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Digeorge Sequence
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Microdeletion 22q11.2
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Monosomy 22q11
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Takao Syndrome
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Distal Del(22)(Q11.2)
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Distal Monosomy 22q11.2
|
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Catch 22 Syndrome
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Chromosome Deletion Syndrome 22q11.2, Distal
|
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| Atrial Heart Septal Defect |
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Atrial Septal Defect
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Atrial Septal Defects
|
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Atrioseptal Defect
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Auricular Septal Defect
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Congenital Atrial Septal Defect
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Interatrial Septal Defect
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Interauricular Septal Defect
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Heart Septal Defects, Atrial
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Septal Defect, Atrial
|
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| Velocardiofacial Syndrome |
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Shprintzen Syndrome
|
VCFS
|
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Chromosome 22q11.2 Deletion Syndrome
|
Vcf Syndrome
|
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Shprintzen Vcf Syndrome
|
Vcf-Velocardiofacial Syndrome
|
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Velo-Cardio-Facial Syndrome
|
Digeorge Syndrome
|
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22q11 Deletion Syndrome
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Conotruncal Anomaly Face Syndrome
|
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| Meningioma, Familial |
|
Meningioma
|
Familial Meningioma
|
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Meningioma, Familial, Susceptibility To
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Meningeal Neoplasm
|
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Meningeal Neoplasms
|
Meningiomas
|
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Meningioma, Nf2-Related, Somatic
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Meningioma, Sis-Related
|
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Meningothelial Cell Tumor
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Neoplasm Of The Meninges
|
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Primary Meningeal Tumor
|
Familial Multiple Meningioma
|
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MNGMA
|
Meningioma, Benign, No Icd-O Subtype
|
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Intracranial Meningioma
|
Meningothelial Cell Neoplasm
|
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Supratentorial Meningioma
|
Primary Neoplasm Of Spinal Meninges
|
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Benign Intracranial Meningioma
|
Benign Meningioma
|
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Meningeal Tumours
|
Meningeal Sarcoma Of Unspecified Site
|
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Meningothelial Sarcoma Of Unspecified Site
|
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| Tetralogy Of Fallot |
|
TOF
|
Fallot Tetralogy
|
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Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle
|
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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