SE-ATLAS

PEHO-Syndrom Promyelozytenleukämie, akute Immundefekt, primärer Epilepsie, seltene Beckwith-Wiedemann-Syndrom Multiple intestinale Atresie Skelettdysplasie mit verkürzten Extremitäten und schwerem kombinierten Immundefekt Schwartz-Jampel-Syndrom Moynahan-Syndrom Hämophilie B, schwere Glomerulopathie Miller-Dieker-Syndrom Graft versus host-Krankheit Hämophilie B, milde Genetische Prädisposition für Infektionen durch spezifische Pathogene Kleefstra-Syndrom durch Mikrodeletion 9q34 Hämophilie A, schwere Lupus-Pannikulitis Osteopoikilose, isolierte Hämophilie B Hämophilie A Hämophilie A, mittelschwere Lupus erythematodes, kutaner, chronischer Akute myeloische Leukämie mit Translokation t(8;16)(p11;p13) Autoimmun-Polyendokrinopathie Typ 2 Hyperoxalurie, primäre Wolf-Hirschhorn-Syndrom Dysosteosklerose CNTNAP2-assoziierte entwicklungsbedingte und epileptische Enzephalopathie Okulo-zerebro-kutanes Syndrom Oligoastrozytom Rasmussen-Enzephalitis Akute myeloische Leukämie mit Translokation t(8;21)(q22;q22) Dendritisches Zell-Sarkom, andernorts nicht klassifiziert Akute lymphoblastische T-Vorläuferzell-Leukämie Zeckenenzephalitis Immundefekt, kombinierter schwerer, T- B+, durch IL-7Ralpha-Mangel Hypophosphatasie DEND-Syndrom Immundefekt, primärer, mit Prädisposition zur schweren Virusinfektion Melorheostose Sonstiges Immundefekt-Syndrom durch Störung der adaptiven Immunität Inversion/Duplikation Chromosom 15 Akute myeloische Leukämie, vererbte Isovalerianazidämie Epilepsie, benigne familiäre infantile Infantile Krampfanfälle - breite Daumen Astroblastom Epilepsie, familiäre partielle Krampfanfälle, benigne familiäre neonatal-infantile Hämoglobinurie, nächtliche paroxysmale Gray-platelet-Syndrom Hämophilie Zystische Fibrose Epilepsie-Teleangiektasie-Syndrom Immundefekt, kombinierter schwerer, durch DNA-PKcs-Mangel Osteomesopyknose Astrozytom, hochgradiges Osteopathia striata - kraniale Sklerose Epilepsie-Syndrom, neonatales Xanthogranulom, juveniles Dent-Krankheit Typ 1 Epilepsie-Syndrom, im Kindesalter beginnend Epilepsie-Syndrom, infantiles Bronchialkarzinom, kleinzelliges Epilepsie-Syndrom, im Erwachsenenalter beginnend Syndrome mit kombiniertem Immundefekt Alport-Syndrom Primärer Immundefekt durch Störung der adaptiven Immunität Hyperinsulinismus, familiärer Tetrasomie 12p Epileptische Syndrome Chromosomenanomalie mit Epilepsie als Hauptmerkmal Symptomatische Form der Hämophilie A bei weiblichen Anlageträgerinnen Neurokutanes Syndrom mit Epilepsie Angelman-Syndrom Kimura-Krankheit Anhidrotische ektodermale Dysplasie-Immundefekt-Osteopetrose-Lymphödem-Syndrom W-Syndrom Ringchromosom-14-Syndrom Monogene Krankheit mit Epilepsie Retikuläre Dysgenesie Riesenzell-Glioblastom Symptomatische Form der Hämophilie B bei weiblichen Anlageträgerinnen Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Buschke-Ollendorff-Syndrom Zerebrale Fehlbildung mit Epilepsie Ringchromosom-20-Syndrom Familiäres Epilepsiesyndrom, idiopathisches oder kryptogenes, mit bekanntem Gen/-ort Pyknodysostose Graft versus host-Krankheit, chronische Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Acute graft versus host disease Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent Aromatase excess syndrome Anaplastic astrocytoma PHACE syndrome Dermatomyositis Von Willebrand disease Acute myeloid leukemia with 11q23 abnormalities Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor Acute undifferentiated leukemia Combined T and B cell immunodeficiency Cerebral diseases of vascular origin with epilepsy Von Willebrand disease type 1 Unclassified acute myeloid leukemia Acute biphenotypic leukemia Familial glucocorticoid deficiency Bilineal acute leukemia Low-grade astrocytoma Infectious disease with epilepsy Fragile X syndrome Von Willebrand disease type 2 Protoplasmic astrocytoma Immunodeficiency predominantly affecting antibody production Astrocytoma Fibrillary astrocytoma Acute panmyelosis with myelofibrosis Rhabdomyosarcoma Ependymoblastoma Ataxia-telangiectasia Acute myeloid leukemia and myelodysplastic syndromes related to radiation Simpson-Golabi-Behmel syndrome Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome Immune dysregulation disease with immunodeficiency Therapy related acute myeloid leukemia and myelodysplastic syndrome Quantitative and/or qualitative congenital phagocyte defect Gemistocytic astrocytoma Acute basophilic leukemia Acute monoblastic/monocytic leukemia Primary immunodeficiency due to a defect in innate immunity Acute leukemia of ambiguous lineage Medulloepithelioma of the central nervous system Melorheostosis with osteopoikilosis PEHO-like syndrome Left sided atrial isomerism Transposition of the great arteries Levocardia Patent arterial duct Hypoplastic left heart syndrome Congenital tricuspid stenosis Mitral valve agenesis Aneurysm of sinus of Valsalva Rare pulmonary hypertension Coronary artery congenital malformation Tricuspid valve agenesis Congenital mitral valve insufficiency and/or stenosis Congenital mitral stenosis Congenital coronary artery aneurysm Congenital anomaly of superior vena cava Atrial septal defect, sinus venosus type Atrial septal defect, coronary sinus type Atrial septal defect, ostium primum type Persistent left superior vena cava connecting to the roof of left-sided atrium Agenesis of the superior vena cava Congenital total pulmonary venous return anomaly Truncus arteriosus Congenital renal artery stenosis Uhl anomaly Ebstein malformation of the tricuspid valve Congenitally uncorrected transposition of the great arteries Pulmonary artery/pulmonary branch anomaly Bockenheimer syndrome Congenital aortopulmonary window Scimitar syndrome Congenital aortic valve atresia Bicuspid aortic valve Tetralogy of Fallot Right sided atrial isomerism Cor triatriatum sinister Infective endocarditis Heart position anomaly Idiopathic recurrent pericarditis Aorta coarctation Eisenmenger syndrome Interatrial communication Pulmonary valve agenesis Pulmonary arteriovenous malformation Dextrocardia Double outlet right ventricle Double outlet left ventricle Propionic acidemia Medium chain acyl-CoA dehydrogenase deficiency Metabolic diseases with epilepsy Supravalvular pulmonary stenosis Very long chain acyl-CoA dehydrogenase deficiency Phenylketonuria Valvular pulmonary stenosis Atrial septal defect, ostium secundum type Galactosemia Glycogen storage disease Disorder of purine or pyrimidine metabolism Disorder of carnitine cycle and carnitine transport Hypoplastic right heart syndrome Hereditary fructose intolerance Maple syrup urine disease Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Congenital pulmonary venous return anomaly Glutaryl-CoA dehydrogenase deficiency Congenital aortic valve stenosis Immunodeficiency due to a complement cascade protein anomaly Supravalvular aortic stenosis Congenital heart block Congenital aortic valve insufficiency Persistent left superior vena cava connecting through coronary sinus to left-sided atrium Glioblastoma Ventricular septal defect Unspecified juvenile idiopathic arthritis Vasculitis Marfan syndrome Juvenile idiopathic arthritis Polyarticular juvenile idiopathic arthritis Spondyloepiphyseal dysplasia tarda Periodic fever syndrome Von Willebrand disease type 3 Autosomal dominant polycystic kidney disease Autosomal recessive polycystic kidney disease Congenital anomaly of the inferior vena cava Azygos continuation of the inferior vena cava Congenital partial pulmonary venous return anomaly Moderate hemophilia B Mild hemophilia A Oligoarticular juvenile idiopathic arthritis Systemic-onset juvenile idiopathic arthritis Psoriasis-related juvenile idiopathic arthritis Enthesitis-related juvenile idiopathic arthritis Acute myeloid leukemia with CEBPA somatic mutations