Rare Disease Registries in Europe

Size: px
Start display at page:

Download "Rare Disease Registries in Europe"

Transcription

1 January 2016 Methodology 3 List of rare diseases that are covered by the listed registries 4 Summary Distribution of registries by country Distribution of registries by coverage Distribution of registries by affiliation 14 Distribution of registries by country 15 European registries 38 International registries 41 Rare Disease Registries in Europe

2 Table of contents Methodology 3 List of rare diseases that are covered by the listed registries 4 Summary Distribution of registries by country Distribution of registries by coverage Distribution of registries by affiliation 14 Distribution of registries by country 15 European registries 39 International registries 41 2

3 Methodology Patient registries and databases constitute key instruments to develop clinical research in the field of rare diseases (RD), to improve patient care and healthcare planning. They are the only way to pool data in order to achieve a sufficient sample size for epidemiological and/or clinical research. They are vital to assess the feasibility of clinical trials, to facilitate the planning of appropriate clinical trials and to support the enrolment of patients. Registries of patients treated with orphan drugs are particularly relevant as they allow the gathering of evidence on the effectiveness of the treatment and on its possible side effects, keeping in mind that marketing authorization is usually granted at a time when evidence is still limited although already somewhat convincing. This report gathers the information collected by Orphanet so far, regarding systematic collections of data for a specific disease or a group of diseases. Cancer registries are listed only if they belong to the network RARECARE or focus on a rare form of cancer. The report includes data about EU countries and surrounding countries participating to the Orphanet consortium. The diseases covered by each register are provided with Orpha number which is their identifier in the Orphanet nomenclature. 3

4 List of rare diseases that are covered by the listed registries Orpha Number Disease name 7 3C ,XX disorder of sex development induced by androgens excess ,XY disorder of sex development due to 17-betahydroxysteroid dehydrogenase ,XY disorder of sex development due to 5-alphareductase ,XY disorder of sex development of endocrine origin 13 6-pyruvoyl-tetrahydropterin synthase 916 Aase-Smith 920 Ablepharon macrostomia 921 Abruzzo-Erickson 988 Absent tibia - polydactyly 926 Acatalasemia Aceruloplasminemia 15 Achondroplasia Achromatopsia 2561 Ackerman Acquired chronic primary adrenal insufficiency Acquired hemophilia 949 Acrocraniofacial dysostosis 37 Acrodermatitis enteropathica 1786 Acrofacial dysostosis, Catania type Acrofacial dysostosis, Kennedy-Teebi type 1787 Acrofacial dysostosis, Palagonia type 1788 Acrofacial dysostosis, Rodríguez type 952 Acrofacial dysostosis, Weyers type 1784 Acro-fronto-facio-nasal dysostosis Acrokeratoderma 965 Acromegaloid facial appearance 963 Acromegaly 969 Acromicric dysplasia 955 Acroosteolysis dominant type 971 Acrorenal 958 Acro-renal-mandibular ACTH-dependent Cushing 318 Acute erythroid leukemia Acute generalized exanthematous pustulosis Acute intermittent porphyria Acute interstitial pneumonia 513 Acute lymphoblastic leukemia 518 Acute megakaryoblastic leukemia 514 Acute monoblastic leukemia 519 Acute myeloid leukemia 517 Acute myelomonocytic leukemia Acute opioid poisoning 520 Acute promyelocytic leukemia Acyl-CoA dehydrogenase Adamantinoma Addison disease 2952 Adducted thumbsarthrogryposis, Christian type 45 Adenosine monophosphate deaminase Adrenal/paraganglial tumor 1501 Adrenocortical carcinoma 2666 Adult familial nephronophthisis - spastic quadriparesia 978 ADULT Adult T-cell leukemia/lymphoma 829 Adult-onset Still disease Agammaglobulinemiamicrocephalycraniosynostosis-severe dermatitis Agenesis of the corpus callosum-intellectual disabilitycoloboma-micrognathia Aggressive B-cell non- Hodgkin lymphoma Aggressive NK-cell leukemia 990 Agnathia-holoprosencephalysitus inversus 53 Albers-Schönberg osteopetrosis 1164 Allergic bronchopulmonary aspergillosis 1005 Alopecia-contracturesdwarfism-intellectual disability 1008 Alopecia-epilepsy-pyorrheaintellectual disability 60 Alpha-1-antitrypsin 61 Alpha-mannosidosis 846 Alpha-thalassemia 63 Alport 64 Alström 2131 Alternating hemiplegia of childhood 284 Alveolar echinococcosis 1946 Amelo-cerebro-hypohidrotic Amelogenesis imperfecta 1031 Amelogenesis imperfectanephrocalcinosis 1908 Aminopterin/methotrexate embryofetopathy 803 Amyotrophic lateral sclerosis 754 Androgen insensitivity ANE 72 Angelman 1071 Ankyloblepharon - ectodermal defects - cleft lip/palate 1094 Anonychia - microcephaly 1101 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies 1104 Anophthalmia plus Anorectal malformation 375 Anti-glomerular basement membrane disease 80 Antiphospholipid 2299 Aortic arch interruption 87 Apert 320 Apparent mineralocorticoid excess 1129 Arachnodactyly - abnormal ossification - intellectual disability 1130 Arachnodactyly - intellectual disability - dysmorphism 1133 AREDYLD 90 Argininemia 23 Argininosuccinic aciduria 4

5 35708 Aromatic L-amino acid decarboxylase 1134 Arrhinia 247 Arrhythmogenic right ventricular cardiomyopathy 3342 Arterial tortuosity 2697 Arthrogryposis - renal dysfunction - cholestasis 1037 Arthrogryposis multiplex congenita 1253 Ascher 94 Astrocytoma 100 Ataxia-telangiectasia 1201 Atresia of small intestine ATTRV30M amyloidosis 2134 Atypical hemolytic-uremic Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities Auriculoocular anomalies - cleft lip Autoimmune hemolytic anemia 3143 Autoimmune polyendocrinopathy type Autoimmune pulmonary alveolar proteinosis Autoimmune thrombocytopenia Autoinflammatory 99 Autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia type Autosomal dominant cerebellar ataxia type Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures 2314 Autosomal dominant hyper- IgE Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 2790 Autosomal dominant osteosclerosis, Worth type 730 Autosomal dominant polycystic kidney disease 486 Autosomal dominant severe congenital neutropenia 1797 Autosomal dominant spondylocostal dysostosis Autosomal erythropoietic protoporphyria 1172 Autosomal recessive cerebellar ataxia Autosomal recessive doparesponsive dystonia Autosomal recessive limbgirdle muscular dystrophy type 2I 731 Autosomal recessive polycystic kidney disease 2512 Autosomal recessive primary microcephaly 2311 Autosomal recessive spondylocostal dysostosis Axenfeld-Rieger 1226 Bamforth-Lazarus 1231 Barber-Say 110 Bardet-Biedl 111 Barth 1234 Bartsocas-Papas B-cell chronic lymphocytic leukemia B-cell prolymphocytic leukemia Becker muscular dystrophy 116 Beckwith-Wiedemann 1237 Beemer-Ertbruggen 117 Behçet disease 274 Bernard-Soulier 848 Beta-thalassemia 610 Bethlem myopathy Bilateral microtia - deafness - cleft palate Biliary atresia 179 Birdshot chorioretinopathy 124 Blackfan-Diamond anemia Blau 1997 Blepharo-cheilo-odontic 1252 Blepharonasofacial malformation 2057 Blepharophimosis - ptosis - esotropia - syndactyly - short stature 2728 Blepharophimosis-intellectual disability, Ohdo type 3047 Blepharophimosis-intellectual disability, SBBYS type 16 Blue cone monochromatism Bone sarcoma 1262 Böök 1267 Botulism 1270 Bowen-Conradi 1292 Brachymorphism - onychodysplasia - dysphalangism Brain demyelination due to methionine adenosyltransferase Brain dopamine-serotonin vesicular transport disease 1297 Branchio-oculo-facial 1299 Branchio-skeleto-genital Bronchial endocrine tumor 1303 Bronchiolitis obliterans with obstructive pulmonary disease Bronchopulmonary dysplasia 131 Budd-Chiari 703 Bullous pemphigoid 543 Burkitt lymphoma 1308 C C3 glomerulonephritis 136 CADASIL Calciphylaxis Capillary malformation - arteriovenous malformation 147 Carbamoyl-phosphate synthetase Cardiocranial, Pfeiffer type Cardiomyopathy 1358 Carey-Fineman-Ziter Carney-Stratakis Carpenter 160 Castleman disease 1387 Cataract - intellectual disability - hypogonadism 717 Catecholamine-producing tumor 1388 Catel-Manzke 195 Cat-eye 3027 Caudal regression sequence CD4+/CD56+ hematodermic neoplasm 597 Central core disease 595 Centronuclear myopathy 2081 Cerebral gigantism - jaw cysts 1393 Cerebro-costo-mandibular Char 166 Charcot-Marie-Tooth disease 138 CHARGE 184 Cherubism 3474 CHIME 1200 Choanal atresia-hearing losscardiac defects-craniofacial dysmorphism 1415 Cholestasis-pigmentary retinopathy-cleft palate Chondrosarcoma 180 Choroideremia Christianson Chromosomal anomaly 379 Chronic granulomatous disease 521 Chronic myeloid leukemia Chronic primary adrenal insufficiency

6 Citrullinemia type I CLAPO 391 Classic Hodgkin lymphoma 394 Classic homocystinuria 1991 Cleft lip with or without cleft palate 2001 Cleft lip/palate - intestinal malrotation - cardiopathy 2014 Cleft palate 2015 Cleft palate - short stature - vertebral anomalies 2010 Cleft palate - stapes fixation - oligodontia 2016 Cleft palate-lateral synechia 1452 Cleidocranial dysplasia 191 Cockayne 1458 CODAS 192 Coffin-Lowry 1466 COFS 193 Cohen Colchicine poisoning Cold-induced sweating 1198 Colonic atresia Combined of factor V and factor VIII 1572 Common variable immuno 1329 Complete atrioventricular canal 1872 Cone rod dystrophy 973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral 418 Congenital adrenal hyperplasia 2040 Congenital bronchobiliary fistula 2140 Congenital diaphragmatic hernia 137 Congenital disorder of glycosylation Congenital dyserythropoietic anemia type II 327 Congenital factor VII 329 Congenital factor XI 331 Congenital factor XIII 2020 Congenital fiber-type disproportion myopathy 335 Congenital fibrinogen 1023 Congenital generalized hypertrichosis, Ambras type Congenital heart malformation 442 Congenital hypothyroidism Congenital limb malformation 1928 Congenital lobar emphysema Congenital muscular dystrophy Congenital muscular dystrophy due to dystroglycanopathy Congenital myotonia 839 Congenital nephrotic, Finnish type Congenital non-bullous ichthyosiform erythroderma 2444 Congenital pulmonary airway malformation 2414 Congenital pulmonary lymphangiectasia 3161 Congenital pulmonary sequestration 3090 Congenital pulmonary venous return anomaly 3091 Congenital systemic veins anomaly Congenital thrombotic thrombocytopenic purpura Congenital vitamin K- dependent coagulation factors 860 Congenitally uncorrected transposition of the great arteries 2445 Conotruncal heart malformations Constitutional megaloblastic anemia with severe neurologic disease Constitutional neutropenia 1484 Contractures - ectodermal dysplasia - cleft lip/palate 199 Cornelia de Lange Corticosteroid-sensitive aseptic abscess 201 Cowden 1509 Coxopodopatellar 1513 Craniodiaphyseal dysplasia 1514 Craniodigital - intellectual disability 1515 Cranioectodermal dysplasia 1529 Craniofacial-deafness-hand Craniofacial-ulnar-renal Craniopharyngioma 1538 Craniosynostosis - Dandy- Walker malformation - hydrocephalus 206 Crohn disease 2935 Crossed polysyndactyly 207 Crouzon disease 553 Cushing Cutaneous neuroendocrine carcinoma 400 Cystic echinococcosis 586 Cystic fibrosis 213 Cystinosis 218 Darier disease 3220 Deafness - enamel hypoplasia - nail defects Deafness - intellectual disability, Martin-Probst type Deep dermatophytosis 1578 Dehydratase 1652 Dent disease 1653 Dentin dysplasia Dentin dysplasia type II Dentinogenesis imperfecta Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability 220 Denys-Drash 1266 Dermato-cardio-skeletal, Borrone type 221 Dermatomyositis 1657 Dermatoosteolysis, Kirghizian type 1660 Dermo-odonto dysplasia Desminopathy 873 Desmoid tumor Desmoplastic small round cell tumor 1666 Dextrocardia Diaphanospondylodysostosis 628 Diastrophic dwarfism 146 Differentiated thyroid carcinoma Diffuse alveolar hemorrhage 544 Diffuse large B-cell lymphoma Digitalis poisoning 226 Dihydropteridine reductase Disorder of amino acid absorption and transport Disorder of urea cycle metabolism and ammonia detoxification 602 Distal myopathy, Nonaka type 18 Distal renal tubular acidosis 230 Dopamine beta-hydroxylase 255 Dopa-responsive dystonia Dopa-responsive dystonia due to sepiapterin reductase 870 Down Drug rash with eosinophilia and systemic symptoms 235 Dubowitz 262 Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy 1203 Duodenal atresia 1775 Dyskeratosis congenita 6

7 1782 Dysosteosclerosis 303 Dystrophic epidermolysis bullosa 256 Early-onset generalized limbonset dystonia Early-onset non-syndromic cataract 2554 Ear-patella-short stature 1880 Ebstein malformation 1806 Ectodermal dysplasia - blindness Ectodermal dysplasia 1896 EEC 1897 EEM Ehlers-Danlos 289 Ellis Van Creveld 261 Emery-Dreifuss muscular dystrophy 877 Endocrine tumor Endosteal sclerosis - cerebellar hypoplasia Enlarged parietal foramina Enthesitis-related arthritis 301 Ependymal tumor 302 Epidermodysplasia verruciformis Erythrokeratoderma 1199 Esophageal atresia 3318 Essential thrombocythemia Ethylene glycol poisoning 1959 Evans 319 Ewing sarcoma 324 Fabry disease Facial cleft 269 Facioscapulohumeral dystrophy 733 Familial adenomatous polyposis Familial atypical multiple mole melanoma Familial cutaneous telangiectasia and oropharyngeal predisposition cancer 540 Familial hemophagocytic lymphohistiocytosis 656 Familial idiopathic steroidresistant nephrotic Familial idiopathic steroidresistant nephrotic with diffuse mesangial sclerosis Familial idiopathic steroidresistant nephrotic with focal segmental hyalinosis Familial juvenile hyperuricemic nephropathy type Familial Mediterranean fever Familial medullary thyroid carcinoma 618 Familial melanoma Familial ovarian cancer 1333 Familial pancreatic carcinoma Familial papillary or follicular thyroid carcinoma Familial platelet with predisposition to acute myelogenous leukemia Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement 1331 Familial prostate cancer Familial scaphocephaly, McGillivray type 84 Fanconi anemia 1987 Femoral agenesis/hypoplasia 1915 Fetal alcohol 2021 Fibrochondrogenesis 337 Fibrodysplasia ossificans progressiva 3255 Filippi 1272 Fine-Lubinsky 2044 Floating-Harbor 2047 Flynn-Aird 2092 Focal dermal hypoplasia Focal myositis 1866 Focal, segmental or multifocal dystonia 545 Follicular lymphoma Formiminoglutamic aciduria 3219 Fountain Frank-Ter Haar 2052 Fraser 347 Frasier 2053 Freeman-Sheldon 95 Friedreich ataxia 1826 Frontometaphyseal dysplasia Fundus albipunctatus 352 Galactosemia 2067 GAPO Gastric adenocarcinoma and proximal polyposis of the stomach Gastric linitis plastica Gastroenteropancreatic endocrine tumor Gastrointestinal stromal tumor 2368 Gastroschisis 355 Gaucher disease 3221 Generalized resistance to thyroid hormone Genetic chronic primary adrenal insufficiency Genetic neuromuscular disease 2025 Gingival fibromatosis - facial dysmorphism 2027 Gingival fibromatosis - progressive deafness 358 Gitelman 849 Glanzmann thrombasthenia 360 Glioblastoma Glossopalatine ankylosis 25 Glutaryl-CoA dehydrogenase 365 Glycogen storage disease due to acid maltase 367 Glycogen storage disease due to glycogen branching enzyme 366 Glycogen storage disease due to glycogen debranching enzyme Glycogen storage disease due to lactate dehydrogenase M- subunit Glycogen storage disease due to muscle and heart glycogen synthase Glycogen storage disease due to muscle beta-enolase 368 Glycogen storage disease due to muscle glycogen phosphorylase 371 Glycogen storage disease due to muscle phosphofructokinase 713 Glycogen storage disease due to phosphoglycerate kinase Glycogen storage disease due to phosphoglycerate mutase 370 Glycogen storage disease due to phosphorylase kinase Goldberg-Shprintzen megacolon 374 Goldenhar 376 Gordon 377 Gorlin 2095 Gorlin-Chaudhry-Moss GRACILE 900 Granulomatosis with polyangiitis 2102 GTP cyclohydrolase I Haddad 2342 Haim-Munk 2108 Hallermann-Streiff 457 Harlequin ichthyosis 7

8 2117 Hartsfield-Bixler-Demyer 2130 Hemimelia Hemochromatosis type Hemoglobinopathy Hemophagocytic 448 Hemophilia 2136 Hennekam 890 Hepatic veno-occlusive disease Hepatitis delta 449 Hepatoblastoma Hepatocellular carcinoma Hepatoportal sclerosis Hereditary angioedema 145 Hereditary breast and ovarian cancer Hereditary breast cancer 676 Hereditary chronic pancreatitis Hereditary coproporphyria Hereditary diffuse gastric cancer 2024 Hereditary gingival fibromatosis 774 Hereditary hemorrhagic telangiectasia 523 Hereditary leiomyomatosis and renal cell cancer Hereditary palmoplantar keratoderma Hereditary pheochromocytomaparaganglioma Hereditary pulmonary alveolar proteinosis Hereditary site-specific ovarian cancer 745 Hereditary thrombophilia due to congenital protein C 189 Hidrotic ectodermal dysplasia 1809 Hidrotic ectodermal dysplasia, Halal type 2153 Hirschsprung disease-nail hypoplasia-dysmorphism 2162 Holoprosencephaly 395 Homocystinuria due to methylene tetrahydrofolate reductase 622 Homocystinuria without methylmalonic aciduria 399 Huntington disease Hurler 2182 Hydrocephalus with stenosis of the aqueduct of Sylvius 2189 Hydrolethalus 927 Hyperammonemia due to N- acetylglutamate synthase Hypermethioninemia due to glycine N-methyltransferase Hypermethioninemia encephalopathy due to adenosine kinase 415 Hyperornithinemiahyperammonemiahomocitrullinuria 3416 Hyperostosis corticalis generalisata Hyperparathyroidism-jaw tumor Hyperphenylalaninemia Hypersensitivity pneumonitis 1519 Hypertelorism, Teebi type 2213 Hypertelorism-microtia-facial clefting 2222 Hypertrichosis lanuginosa congenita 989 Hypoglossia-hypodactyly 1790 Hypomandibular faciocranial dysostosis Hypomyelinationhypogonadotropichypogonadism-hypodontia 436 Hypophosphatasia 2248 Hypoplastic left heart 3332 Hypoplastic tibiae - postaxial polydactyly 2266 Hypotrichosis-intellectual disability, Lopes type Ichthyosis 930 Idiopathic achalasia Idiopathic bronchiectasis Idiopathic eosinophilic pneumonia Idiopathic hypersomnia Idiopathic inflammatory myopathy Idiopathic interstitial pneumonia 2032 Idiopathic pulmonary fibrosis Idiopathic pulmonary hemosiderosis 3002 Immune thrombocytopenic purpura 761 Immunoglobulin A vasculitis 611 Inclusion body myositis 464 Incontinentia pigmenti Indolent primary cutaneous B- cell lymphoma Infantile dystoniaparkinsonism 1186 Infantile onset spinocerebellar ataxia Inflammatory pseudotumor of the liver Inherited cancer-predisposing Inherited cancer-predisposing due to biallelic BRCA2 mutations Inherited epidermolysis bullosa Inherited nervous system cancer-predisposing Inherited renal cancerpredisposing 3044 Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus 1478 Interatrial communication Interstitial lung disease Interstitial lung disease specific to adulthood Intestinal polyposis 1048 Isolated anencephaly/exencephaly 2542 Isolated anophthalmia - microphthalmia 557 Isolated anorectal malformation Isolated congenital hypogonadotropic hypogonadism 718 Isolated Pierre Robin 823 Isolated spina bifida 2306 Isotretinoin-like 33 Isovaleric acidemia 2308 Jacobsen 1873 Jalili 474 Jeune 2315 Johanson-Blizzard 2316 Johnson neuroectodermal 475 Joubert 2754 Joubert with orofaciodigital defect Joubert with renal defect 2319 Juberg-Hayward Juvenile dermatomyositis Juvenile Huntington disease 2028 Juvenile hyaline fibromatosis 92 Juvenile idiopathic arthritis Juvenile polymyositis Juvenile rheumatoid factornegative polyarthritis Juvenile rheumatoid factorpositive polyarthritis 2322 Kabuki 478 Kallmann Kaposi sarcoma 2328 Kapur-Toriello 2331 Kawasaki disease 2332 KBG 477 KID 8

9 2908 Kindler Klatskin tumor Kleine-Levin 2351 Kousseff 2363 Lacrimoauriculodentodigital 313 Lamellar ichthyosis 389 Langerhans cell histiocytosis 626 Large congenital melanocytic nevus 1202 Larynx atresia Lathosterolosis 65 Leber congenital amaurosis Left ventricular noncompaction 549 Legionellosis Legius Lelis 2382 Lennox-Gastaut Leukocyte adhesion type III Leukoencephalopathy-ataxiahypodontia-hypomyelination 524 Li-Fraumeni 2369 Limb body wall complex 263 Limb-girdle muscular dystrophy Limb-mammary 538 Lymphangioleiomyomatosis 144 Lynch Lysosomal glycogen storage disease 592 Macrophagic myofasciitis Macrostomia - preauricular tags - external ophthalmoplegia 673 Malaria 679 Malignant atrophic papulosis 423 Malignant hyperthermia Malignant melanoma of the mucosa MALT lymphoma 2457 Mandibuloacral dysplasia Mantle cell lymphoma 2461 Marden-Walker 558 Marfan Marginal zone lymphoma 561 Marshall-Smith Mastocytosis 2470 Matthew-Wood 1248 Maxillonasal dysplasia 3097 Meacham 2006 Median cleft lip/mandibule 1332 Medullary thyroid carcinoma 616 Medulloblastoma Melanoma of soft parts 2484 Melnick-Needles Metaphyseal chondrodysplasia, Jansen type Methanol poisoning 2169 Methylcobalamin type cble 2170 Methylcobalamin type cblg 26 Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria type cblf Methylmalonic acidemia with homocystinuria, type cblc Methylmalonic acidemia with homocystinuria, type cblj Methylmalonic aciduria due to transcobalamin receptor defect 2511 Microbrachycephaly - ptosis - cleft lip 2521 Microcephaly - cleft palate Microcytic anemia with liver iron overload 2538 Microgastria - limb reduction defect 1083 Microlissencephaly 568 Microphthalmia, Lenz type Microtia Mitochondrial disease Mitochondrial disease with dilated cardiomyopathy Miyoshi myopathy 552 MODY 570 Moebius 3057 Monoamine oxidase A 281 Monosomy 5p Motor neuron disease 2152 Mowat-Wilson Mucopolysaccharidosis Muenke Multiple congenital anomalies/dysmorphic 652 Multiple endocrine neoplasia type Multiple endocrine neoplasia type Multiple myeloma 321 Multiple osteochondromas Multiple sclerosis variant 102 Multiple system atrophy 588 Muscle-eye-brain disease Muscular channelopathy MUTYH-related attenuated familial adenomatous polyposis 589 Myasthenia gravis Myelodysplastic 824 Myelofibrosis with myeloid metaplasia Myeloproliferative neoplasm MYH9-related disease 2588 Myhre Myotonic dystrophy Naegeli-Franceschetti- Jadassohn 245 Nager 627 Nance-Horan Narcolepsy without cataplexy 2073 Narcolepsy-cataplexy 2399 Nasopalpebral lipoma - coloboma - telecanthus 150 Nasopharyngeal carcinoma 607 Nemaline myopathy 654 Nephroblastoma 223 Nephrogenic diabetes insipidus Nephrogenic systemic fibrosis 655 Nephronophthisis 2671 Neu-Laxova 3388 Neural tube defect Neuroacanthocytosis 635 Neuroblastoma 2481 Neurocutaneous melanocytosis 385 Neurodegeneration with brain iron accumulation Neurodegenerative due to cerebral folate transport 2673 Neurofaciodigitorenal 636 Neurofibromatosis type Neurofibromatosis type Neurofibromatosis type Neurofibromatosis type Neuromuscular disease Neuromyelitis optica 216 Neuronal ceroid lipofuscinosis Niemann-Pick disease type A 9

10 77293 Niemann-Pick disease type B 646 Niemann-Pick disease type C 647 Nijmegen breakage Nodal marginal zone B-cell lymphoma 467 Non-acquired combined pituitary hormone 547 Non-Hodgkin lymphoma Non-Langerhans cell histiocytosis Non-secreting paraganglioma Non-specific interstitial pneumonia 648 Noonan Noonan and Noonan-related 3032 NPHP3-related Meckel-like 194 Ocular coloboma 1125 Ocular motor apraxia, Cogan type 1647 Oculocerebrocutaneous 2707 Oculocerebrofacial, Kaufman type 2709 Oculodental, Rutherfurd type 2710 Oculodentodigital dysplasia 1794 Oculomaxillofacial dysostosis 2713 Oculoosteocutaneous 2714 Oculo-palato-cerebral 2718 Oculotrichodysplasia Odontoleukodystrophy 2721 Odonto-onycho-dermal dysplasia 2723 Odontotrichomelic Odonto-tricho-ungual-digitopalmar 2729 Okamoto Oligodendroglial tumor 660 Omphalocele 661 Ondine 2741 Ophthalmomandibulomelic dysplasia 2086 Optic pathway glioma Organic aciduria 664 Ornithine transcarbamylase Orofacial clefting 2750 Orofaciodigital type Orofaciodigital type Orofaciodigital type Orofaciodigital type Orofaciodigital type Oromandibular-limb hypogenesis Ossification anomalies - psychomotor development delay 666 Osteogenesis imperfecta Osteonecrosis of the jaw 2780 Osteopathia striata - cranial sclerosis 2781 Osteopetrosis 2785 Osteopetrosis with renal tubular acidosis 668 Osteosarcoma 2791 Otodental 669 Otopalatodigital 1427 Otospondylomegaepiphyseal dysplasia Ovarian cancer Overgrowth 2309 Pachyonychia congenita 1993 Pai 677 Pancreatoblastoma 2807 Papilloma of choroid plexus 678 Papillon-Lefèvre Paraquat poisoning 143 Parathyroid carcinoma 447 Paroxysmal nocturnal hemoglobinuria 1330 Partial atrioventricular canal 706 Patent arterial duct Pauci-immune glomerulonephritis Pediatric hepatocellular carcinoma Pediatric systemic lupus erythematosus 704 Pemphigus vulgaris 1335 Pentalogy of Cantrell 2849 Perlman 709 Peters plus 2869 Peutz-Jeghers PFAPA 716 Phenylketonuria 2888 Pierre Robin - faciodigital anomaly Pituitary adenoma Pleural mesothelioma Pleuropulmonary blastoma Plummer-Vinson 2911 Poland 732 Polymyositis Porokeratosis 738 Porphyria Porphyria cutanea tarda Porphyria variegata 854 Portal vein thrombosis 246 Postaxial acrofacial dysostosis Postaxial polydactyly of fingers 739 Prader-Willi Preaxial polydactyly of fingers Precursor B-cell acute lymphoblastic leukemia 186 Primary biliary cirrhosis Primary central nervous system lymphoma 244 Primary ciliary dyskinesia 541 Primary cutaneous CD30+ T- cell lymphoproliferative disease 542 Primary cutaneous lymphoma 416 Primary hyperoxaluria Primary immuno Primary lateral sclerosis Primary malignant peritoneal tumor Primary membranoproliferative glomerulonephritis Primary peritoneal tumor 2420 Primary pulmonary lymphoma 171 Primary sclerosing cholangitis 172 Progressive familial intrahepatic cholestasis 35 Propionic acidemia 606 Proximal myotonic myopathy 70 Proximal spinal muscular atrophy 756 Pseudohypoaldosteronism type Pseudohypoaldosteronism type Pseudoxanthoma elasticum Psychomotor retardation due to S-adenosylhomocysteine hydrolase PTEN hamartoma tumor Pulmonary arterial hypertension 763 Pycnodysostosis 764 Pyomyositis Qualitative or quantitative defects of dystrophin Qualitative or quantitative defects of FKRP Qualitative or quantitative defects of sarcoglycan Radial hemimelia 3019 Ramon

11 Rare ataxia Rare pulmonary disease 3152 Sclerosteosis Rare bone disease Rare bone tumor Rare breast tumor Rare bronchopulmonary tumor Rare cardiac rhythm disease Rare constitutional anemia Rare developmental defect during embryogenesis Rare digestive tumor Rare disease Rare dyslipidemia Rare epilepsy Rare eye disease Rare gastroesophageal tumor Rare genetic deafness Rare genetic diabetes mellitus Rare genetic disease Rare genetic eye disease Rare genetic hematologic disease Rare genetic renal disease Rare hematologic disease Rare hemorrhagic disorder Rare hemorrhagic disorder due to a coagulation factors defect Rare hemorrhagic disorder due to a constitutional coagulation factors defect Rare hemorrhagic disorder due to a constitutional platelet anomaly Rare hemorrhagic disorder due to a constitutional thrombocytopenia Rare hepatic and biliary tract tumor Rare hereditary hemochromatosis Rare hereditary thrombophilia Rare inborn errors of metabolism Rare inflammatory bowel disease Rare malignant breast tumor Rare maxillo-facial surgical disease Rare nervous system tumor Rare neurologic disease Rare odontologic disease Rare otorhinolaryngologic tumor Rare parkinsonian disorder Rare primary hyperaldosteronism Rare pulmonary hypertension Rare renal disease Rare renal tubular disease Rare rheumatological disease of childhood Rare skin tumor or hamartoma Rare soft tissue tumor Rare systemic or rheumatologic disease Rare thrombotic disorder due to a constitutional coagulation factors defect Rare tumor Rare tumor of intestine Rare tumor of pancreas Rare urogenital tumor Rare vascular liver disease RAS-associated autoimmune leukoproliferative disease Recurrent respiratory papillomatosis Regional odontodysplasia 1848 Renal agenesis, bilateral 3242 Renpenning 1662 Restrictive dermopathy Retinal dystrophy 791 Retinitis pigmentosa 790 Retinoblastoma Retinopathy of prematurity 778 Rett Rhabdoid tumor Rheumatoid arthritis Rhombencephalosynapsis RHYNS 1444 Ring chromosome Robinow Rosselli-Gulienetti 2909 Rothmund-Thomson 783 Rubinstein-Taybi 3121 Ruvalcaba Saldino-Mainzer 797 Sarcoidosis 2353 Schilbach-Rott 799 Schizencephaly 800 Schwartz-Jampel 801 Scleroderma Segmental odontomaxillary dysplasia 3156 Senior-Loken 3157 Septo-optic dysplasia spectrum Severe congenital neutropenia 3162 Sézary 2649 Short stature - intellectual disability - eye anomalies - cleft lip/palate 3163 SHORT 811 Shwachman-Diamond 232 Sickle cell anemia Sickle cell disease and related diseases 373 Simpson-Golabi-Behmel Simpson-Golabi-Behmel type Singleton-Merten dysplasia 378 Sjögren 816 Sjögren-Larsson 818 Smith-Lemli-Opitz 820 Sneddon 821 Sotos Sparse hair - short stature - skin anomalies Spinocerebellar ataxia type Splenic marginal zone lymphoma 2440 Split hand-split foot malformation Sporadic idiopathic steroidresistant nephrotic Sporadic idiopathic steroidresistant nephrotic with diffuse mesangial sclerosis 826 Sporotrichosis Squamous cell carcinoma of head and neck SRD5A3-CDG 827 Stargardt disease 273 Steinert myotonic dystrophy 3194 Stern-Lubinsky-Durrie 3196 Steroid dehydrogenase - dental anomalies Stevens-Johnson Syndromic X-linked intellectual disability due to JARID1C mutation 188 Systemic capillary leak 536 Systemic lupus erythematosus 2467 Systemic mastocytosis Systemic non-langerhans cell histiocytosis

12 158 Systemic primary carnitine Systemic sclerosis 2731 Taurodontia - absent teeth - sparse hair T-cell large granular lymphocyte leukemia T-cell non-hodgkin lymphoma T-cell prolymphocytic leukemia 1777 Temtamy 883 Teratoma 842 Testicular seminomatous germ cell tumor 3303 Tetralogy of Fallot Therapy related acute myeloid leukemia and myelodysplastic Thiamine-responsive megaloblastic anemia 2405 Thickened earlobes - conductive deafness Thrombotic microangiopathy Thrombotic thrombocytopenic purpura Thymic tumor Thymoma Thyroid carcinoma Thyroid tumor 3329 Tibial aplasia - ectrodactyly Toxic epidermal necrolysis Transient neonatal diabetes mellitus Transmissible spongiform encephalopathy TRAPS 861 Treacher-Collins 863 Trichinellosis 3352 Tricho-dento-osseous Trichothiodystrophy 2947 Triphalangeal thumbs - brachyectrodactyly Trisomy 10p 1699 Trisomy 12p 3378 Trisomy Trisomy Truncus arteriosus 888 Van der Woude Vascular tumor Vasculitis 1480 Ventricular septal defect 28 Vitamin B12-responsive methylmalonic acidemia 27 Vitamin B12-unresponsive methylmalonic acidemia 892 Von Hippel-Lindau disease 903 Von Willebrand disease 893 WAGR 899 Walker-Warburg 3449 Weill-Marchesani 3455 Wiedemann-Rautenstrauch 904 Williams 905 Wilson disease 1667 Wolcott-Rallison 280 Wolf-Hirschhorn 3463 Wolfram 910 Xeroderma pigmentosum 43 X-linked adrenoleukodystrophy 2958 X-linked intellectual disability - dysmorphism - cerebral atrophy X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration X-linked intellectual disability, Armfield type X-linked intellectual disability, Cabezas type X-linked intellectual disability, Siderius type X-linked intellectual disability, Stevenson type X-linked intellectual disability, Vitale type 1131 X-linked mandibulofacial dysostosis 876 Yolk sac tumor 3471 Young 2828 Young-onset Parkinson disease 3472 Yunis-Varon 3473 Zimmermann-Laband Zygomycosis Tumor of hematopoietic and lymphoid tissues Typical hemolytic-uremic Urogenital tract malformation 886 Usher Uveal melanoma 12

13 Summary 1- Distribution of registries by country COUNTRY REGIONAL NATIONAL EUROPEAN GLOBAL TOTAL AT - Austria BE - Belgium BG - Bulgaria CH - Switzerland* CY - Cyprus CZ - Czech Republic DE - Germany DK - Denmark EE - Estonia ES - Spain FI - Finland FR - France GR - Greece HR - Croatia HU - Hungary IE - Ireland IL - Israel* IS - Iceland* IT - Italy LT - Lithuania LU - Luxembourg LV - Latvia MK - Republic of Macedonia* MT - Malta NL - Netherlands NO - Norway* PL - Poland PT - Portugal RO - Romania RS - Serbia* SE - Sweden SI - Slovenia SK - Slovakia TR - Turkey* UA - Ukraine* UK - United Kingdom TOTAL *surrounding countries participating to the Orphanet consortium

14 2- Distribution of registries by coverage COVERAGE NUMBER OF REGISTRIES Regional European 59 Global 74 TOTAL Distribution of registries by affiliation 7% 4% 8% Private non-for-profit Private for-profit Not defined 81% 14

15 Distribution of registries by country AT - AUSTRIA (36 registries) ENGLISH LABEL OF THE ACTIVITY AGMT (Arbeitsgemeinschaft medikamentöse Tumortherapie): ALL-Registry and Biobank AGMT (Arbeitsgemeinschaft medikamentöse Tumortherapie): Austrian Registry on Hypomethylating Agents in Myeloid Neoplasms AGMT (Arbeitsgemeinschaft medikamentöse Tumortherapie): Head and neck tumor registry Austria AGMT (Arbeitsgemeinschaft medikamentöse Tumortherapie): MBC-Registry (Metastatic breast cancer in Austria) AGMT (Arbeitsgemeinschaft medikamentöse Tumortherapie): PTCL registry (T-cell lymphoma in Austria) COVERAGE AFFILIATION Austrian acromegaly registry neant Austrian alpha-1 antitrypsin registry - contributes to the Alpha One International Registry (AIR) Austrian brain tumor registry Austrian cancer registry - contributes to the RARECARE project Austrian chronic myeloid leukemia registry neant Austrian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Austrian GIST registry Austrian Hemophilia Registry - Registry for patients with inborn coagulation defects Austrian Huntington disease registry Private for-profit Austrian myeloma registry neant Austrian registry for inborn errors of metabolism Austrian Registry on Acquired Hemophilia Austrian severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR) Central Austrian registry for histiocytic disorders in adults Central data registry of the European Competence Network on Mastocytosis (ECMN) European Ceprotin Treatment Registry EB Registry Austria Echinococcosis registry EMSA-SG: central patient registry of the European multiple system atrophy network Global ENRAH: European alternating hemiplegia and rare epilepsies registry in childhood Global Innsbruck registry for Adamantiades-Behcet disease: Retrospective and prospective data collection Regional International ahus registry European MDS: Austrian myelodysplastic s patient registry NF-10 - Prospective collection of potentially prognostically relevant data in patients with indolent non-follicular B-cell lymphoma Registry for Philadelphia chromosome-positive acute lymphoblastic leukemia in childhood and adolescence Registry for relapsing acute lymphoblastic leukemia in childhood and adolescence European Registry of the NHL-BFM study group for all subtypes of Non-Hodgkin lymphoma in children and adolescents European Skin cancer registry Graz Regional Styrian registry of congenital anomalies - contributes to the EUROCAT network Regional Thromboreductin-Registry European Private for-profit Upshaw-Schulman-Syndrome registry 15

16 BE - BELGIUM (21 registries) Antwerpen registry of congenital anomalies - contributes to the EUROCAT network Antwerpen registry of congenital anomalies - contributes to the EUROCAT network Belgian alpha-1 antitrypsin registry - contributes to the Alpha One International Registry (AIR) Regional Regional Private for-profit Private for-profit Belgian contribution to the international rare bleeding disorders registry (RBDD) Private for-profit Belgian cystic fibrosis patient registry (BMR-RBM) - contributes to the EUROCARE CF and the ECFS registries Belgian familial adenomatous polyposis registry Belgian Neuromuscular Disease Registry Belgian patient database for Wilson disease - contributes to the EuroWilson registry (terminated) Belgian registry of primary immunodeficiencies - contributes to the ESID European registry Private for-profit Belgian rituximab therapy registry for immune anemia and thrombocytopenia Belgian severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR) Belgian sickle cell anemia registry Belgian systemic sclerosis cohort Central Registry of Rare Diseases ENRAH: Belgian contribution to European registry for alternating hemiplegia in childhood EUNEFRON: registry of the European network for the study of orphan nephropathies EURECHINOREG: Belgian contribution to the European registry of human alveolar echinococcosis EUROGLYCANET - International patient registry and cohort for congenital disorders of glycosylation Global Global Private for-profit Haemoglobinopathies - database Private for-profit Hainault and Namur registry of congenital anomalies - contributes to the EUROCAT network Regional LCH: Belgian Langerhans cell histiocytosis registry Private for-profit Pediatric granulomatous arthritis international registry Global Private for-profit 16

17 BG - BULGARIA (11 registries) Bulgarian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient registries in Bulgaria - part of the TREAT-NMD network registry of adult patients with chronic myeloid leukemia - BG registry of patients with Crohn disease - BG registry of patients with Gaucher disease - BG registry of patients with mucopolysaccharidosis type II (MPS2) - BG registry of patients with phenylketonuria - BG registry of patients with primary immunodeficiencies (PID) - BG registry of patients with thalassaemia major - BG registry of patients with Wilson disease - BG The Bulgarian genetic registry of monogenic disorders Private for-profit CH - SWITZERLAND (15 registries) COST Action BM1105 Patient Registry - GnRH Network European EUROCAT (Switzerland, Vaud) - Registry of congenital malformations of canton Vaud Regional Paediatric registry for congenital pulmonary malformations Perihilar Cholangiocarcinoma International Registry Global PFAPA Registry: Periodic fever aphtous stomatitis, pharyngitis and adenopathy patient registry European Not defined PNH Registry: Paroxysmal Nocturnal Hemoglobinuria registry Global Private for-profit Swiss alpha-1 antitrypsin registry - contributes to the Alpha One International Registry (AIR) Swiss Childhood Cancer Registry Swiss Cleft Lip and Palate Registry Swiss cystic fibrosis patient registry - contributes to the EUROCARE CF registry Swiss patient registry for Duchenne/Becker Muscular Dystrophy and Spinal Muscular Atrophy - contributes to the TREAT - NMD network Swiss Primary Ciliary Dyskinesia Registry - contributing to the International PCD Registry Swiss registries for Interstitial and Orphan Lung Diseases (SIOLD Registries) Swiss registry of biliary atresia - contributes to the EBAR registry SwissNET - Registry for Neuroendocrine Tumours in Switzerland 17

18 CY - CYPRUS (2 registries) Cyprian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Private forprofit NMDcy: Cypriot Neuromuscular Diseases - contributes to TREAT-NMD Private forprofit ENGLISH LABEL OF THE ACTIVITY CZ - CZECH REPUBLIC (4 registries) COVERAGE AFFILIATION Czech cystic fibrosis patient registry - contributes to the EUROCARE CF registry Czech severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) Duchenne and Becker muscular dystrophy patient registry in the Czech Republic and Slovakia - contributes to the TREAT-NMD network Spinal muscular atrophy patient registry in the Czech Republic - part of the TREAT- NMD network Private for-profit Private for-profit DE - Germany (124 registries) ALS registry Nordrhein-Westfalen Regional ALS registry Rheinland-Pfalz Regional ALS registry swabia Regional AML-BFM Registry 2012: Clinical registry for children and adolescents with acute myeloid leukemia ARegPKD - an international registry study for autosomal recessive polycystic kidney disease Global Ataxia-Telangiectasia patient registry - contributes to the ESID Database Bayern population based cancer registry Blue cone monochromatism - Patient registry Bremen cancer registry CEDATA-GPGE: Registry of Children with Inflammatory Bowel Disease in Germany and Austria Global Central Cutaneous Lymphoma Registry Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network Regional Child liver tumor registry Childrens IBD registry in Saxony Regional CMMR: Central Malignant Melanoma Registry in germany Common cancer registry of Berlin, Brandenburg, Mecklenburg-Western Pomerania, Saxony-Anhalt and the free states Saxony and Thuringia Conn Registry: German registry of primary aldosteronism 18

19 Core documentation of rheumatic children in germany CPT-SIOP-Registry : International Registry for Choroid Plexus Tumors Global CURE-Net : registry for congenital uro-rectal malformations CUSTODES - Cushing registry: therapy and outcome in germany - contributes to the ERCUSYN - European Register on Cushing's Syndrome CWS-SoTiSaR: A registry for soft tissue sarcoma and other soft tissue tumours in children, adolescents, and young adults DCLLSG registry - Registry of the German CLL Study Group - Long term observation of patients with CLL, B-PLL, T-PLL, SLL, T/ NK-LGL and Richter transformation DÖSAK tumor registry for documentation of tumors of the face and jaws in germany, austria and switzerland Global Global Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient registries in Austria and Germany - part of the TREAT-NMD network EBAR: European Biliary Atresia Registry Global EHDN: European Huntington's disease registry Global EHDN: neuroacanthocytosis patient registry Global EIMD: European registry and network for intoxication type metabolic diseases Global EKRS: Saarland Cancer Registry - contributes to the RARECARE Project Regional ENETS: European Neuroendocrine Tumour Registry Global Epidemiological cancer registry Baden-Württemberg Regional ESID: European registry of primary immunodeficiencies Global ESNEK - Rare paediatric neurological disease registry Germany EU-RHAB: European Rhabdoid Tumor Registry Global euripfreg: European idiopathic pulmonary fibrosis registry Global EUROFA - EFACT: European Friedreich Ataxia Registry Global European child-registry and biobank of the european network for children's interstitial lung diseases (child-eu). Global EUROSCA-R: European patient registry on spinocerebellar ataxias Global EUTOS: European chronic myeloid leukemia patient registry (collaboration between the European LeukemiaNet and Novartis Europe) Global FACE - registry for Robin sequence FungiScope - Global Rare Fungal Infection Registry Global GeNeMove: German database for wilson disease German acromegaly registry German adrenal tumors registry German AID (Autoinflammatory disorders) registry - subproject AID-NET German alpha-1 antitrypsin registry - contributes to the Alpha One International Registry (AIR) German calciphylaxis registry -contributes to the international calciphylaxis registry EuCalNet 19

20 German central registry for Sickle cell disease German childhood cancer registry (Partner of ACCIS: Automated Childhood Cancer Information System) neant German cystic fibrosis registry - contributes to the EUROCARE CF registry German epilepsy registry European German Fanconi anemia registry German gastrointestinal stromal tumor registry German Haemophilia Registry (DHR) German marginal zone lymphoma registry German mucopolysaccharidosis patient registry German multiple endocrine neoplasia type 1 (MEN 1) registry German national case collection of familial pancreatic cancer German paroxysmal nocturnal hemoglobinuria registry German pituitary tumors registry German registry for congenital heart defects - part of the competence network for congenital heart defects German registry for congenital thrombocytopenia German registry for Morbus Adamantiades-Behçet e.v. Not defined German registry for papulosis atrophicans maligna German severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) German vasculitis registry Germany patient registry for membranoproliferative glomerulonephritis GMALL-registry: registry for adult patients with acute lymphoblastic leukemia or related diseases GOLDnet: Registry for Diffus Parenchymal Lung Disease GPOH-MET Registry: Registry for children and adolescents with malignant endocrine tumour Hamburg cancer registry Hepatitis Delta International Network - patient registry European Not defined HepNet: German hepatocellular carcinoma (HCC) registry intd (International Working Group on Neurotransmitter Related Disorders) Registry Global International pheochromocytoma and paraganglioma registry Global INVM (Isolated Noncompaction of Ventricular Myocardium) registry Private for-profit Kids Lung Register: International register and biobank for rare lung diseases Global KINDLERNET: Central patient registry Kindler Global LBL Registry: Registry for children with lymphoblastic lymphoma Lupus nephritis registry (established by the german paediatric nephrology association) Mainz registry of congenital anomalies - contributes to the EUROCAT network Regional MAISTHRO-Registry : multicentric thrombophilia registry (MAIn-ISar- THROmbose-Register) MCR - Munich cancer registry MDS: German myelodysplastic s patient registry 20

21 MEFOPA: registry for patients with rare Mendelian forms of Parkinson's Disease Global Mykke : German registry for children and adolescents with myocarditis Not defined Nationa CMT-patient registry germany - part of the TREAT-NMD network FKRP-patient registry germany - part of the TREAT-NMD network nephrogenic systemic fibrosis registry registry for Blackfan-Diamond disease NCL-Registry: International neuronal ceroid lipofuscinoses patient registry Global NeoExNET registry: patient registry for neuroendocrine tumors Nephronophthisis registry for patients in germany, austria and switzerland Global NET-Registry: German neuroendocrine gastrointestinal tumors Neuro-Heart-Registry: Registry for patients with heart involment in neurovascular diseases Neuromyelitis optica patient registry NHL-BFM Registry 2012: Registry of the NHL-BFM study group for all subtypes of Non-Hodgkin Lymphoma diagnosed in children and adolescents NIRK: national central registry for ichthyoses and related keratinization disorders Global NIRK: patient registry for autosomal recessive congenital ichthyosis NKR: German registry for adrenocortical carcinoma OSTEOPETR: International registry of patients suffering from osteopetrosis Global Patient registry for primary hyperoxaluria - contributes to the OxalEurope- Network Patient registry of the German Network for Systemic Scleroderma PID-NET: German Registry for Primary Immunodeficiencies (PID) PODONET: Registry for Steroid-Resistant Nephrotic Syndrome (SRNS) patients PROGNOSIS : The Prospective German Non-CF-Bronchiectasis Registry - contributes to EMBARC registry PSHN Registry - Purpura Schoenlein-Henoch-Nephritis registry of the German society for paediatric nephrology (GPN) Global European RAMEDIS : Rare Metabolic Diseases Database RegiSCAR: International registry of severe cutaneous adverse reactions (SCAR) to drugs and collection of biological samples - patient registry Global Register for rare myeloproliferative neoplasms Global Registry and biobank for rare thyroid and parathyroid carcinoma Registry for congenital melanocytic nevi and neurocutaneous melanocytosis Registry for Merkel Cell Carcinoma Registry for patients with mitochondrial diseases (mitoregister) - subproject of mitonet Registry for Patients with WT1 Mutation Associated Diseases RetDis Database: clinical descriptions of patients and families with inherited eye diseases ROMSE: German patient registry of orofacial manifestations in rare diseases Global Global Schleswig-Holstein cancer registry STEP Registry: Registry for rare tumors in children and adolescents STER: FVII treatment international registry Global 21

Co-pay assistance organizations offering assistance

Co-pay assistance organizations offering assistance Acromegaly Acute Exacerbations of Multiple Sclerosis Acute Porphyrias Advanced Idiopathic Parkinson' s Disease Age-Related Macular Degeneration www.theassistancefund.org Alcohol Dependence Alpha-1 Antitrypsin

More information

Cord blood Banking Transplant List for One USA Bank - StemCyte www.stemcyte.com/cordblood-banking-transplant-list

Cord blood Banking Transplant List for One USA Bank - StemCyte www.stemcyte.com/cordblood-banking-transplant-list Cells4Life is the oldest and largest cord blood storage company in the UK. We are governed by some of the world's most stringent medical laws, and are currently the only stem cell storage company in the

More information

CMS CLINICAL ELIGIBILITY ATTESTATION

CMS CLINICAL ELIGIBILITY ATTESTATION CMS CLINICAL ELIGIBILITY ATTESTATION Patient Name: DOB: Medicaid and/or KidCare ID: Parent/Legal Guardian Name: Phone number: Initial all that Apply: Initials ICD 10 Descriptor Certain infectious and parasitic

More information

Comprehensive List of Neuromuscular Disorders Covered by Muscular Dystrophy Canada

Comprehensive List of Neuromuscular Disorders Covered by Muscular Dystrophy Canada Comprehensive List of Neuromuscular Disorders Covered by Muscular Dystrophy Canada Neuromuscular disorders is a general term that refers to diseases that affect any part of the nerve and muscle. These

More information

www.assureimmune.com

www.assureimmune.com Stem Cell Bank Cord Blood Important facts for when you re expecting www.assureimmune.com Banking your baby s umbilical cord blood could be a potentially lifesaving decision. There s a brief moment of opportunity

More information

A Source of Hard- to- Find Pa3ents and Caregivers For Researchers. Peter Ziedins Peter.ziedins@mpiresearch.ca 514-426- 9295 www.rarepa;entvoice.

A Source of Hard- to- Find Pa3ents and Caregivers For Researchers. Peter Ziedins Peter.ziedins@mpiresearch.ca 514-426- 9295 www.rarepa;entvoice. A Source of Hard- to- Find Pa3ents and Caregivers For Researchers Peter Ziedins Peter.ziedins@mpiresearch.ca 514-426- 9295 www.rarepa;entvoice.com About RPV Rare Pa3ent Voice, LLC was formed to provide

More information

List of Qualifying Conditions

List of Qualifying Conditions List of Qualifying Conditions Cancer Conditions 1) Adrenal cancer 2) Bladder cancer 3) Bone cancer all forms 4) Brain cancer 5) Breast cancer 6) Cervical cancer 7) Colon cancer 8) Colorectal cancer 9)

More information

One (1) single qualifying condition of either HIV/AIDS or a Serious Mental Illness (SMI)

One (1) single qualifying condition of either HIV/AIDS or a Serious Mental Illness (SMI) Eligibility Criteria for Health Home Services: Chronic Conditions New York State s Health Home eligibility criteria is as follows: Medicaid eligible/active Medicaid; and Two (2) or more chronic conditions;

More information

European Research Council

European Research Council ERC Advanced Grants 2011 Outcome: Indicative Statistics Reproduction is authorised provided that the source ERC is acknowledged NB: In these graphs grantee refers to a candidate selected for ERC funding

More information

Diseases Treated by Blood Stem Cells

Diseases Treated by Blood Stem Cells Diseases Treated by Blood Stem Cells This is the only website to group hematopoietic (blood) stem cell treatments according to whether they are standard, in trial, or experimental. (Courtesy of Parents

More information

European Research Council

European Research Council ERC Starting Grant Outcome: Indicative statistics Reproduction is authorised provided the source ERC is acknowledged ERCEA/JH. ERC Starting Grant: call Submitted and selected proposals by domain Submitted

More information

Systemic Health: Pathology

Systemic Health: Pathology Page 1 Systemic Health: Pathology A. General Health 2. Detailed history with regards to differential diagnosis of fatigue, weight loss, fever, headache, dizziness, and malaise 3. Presentations involving

More information

Briefing Paper: Cross-border EU healthcare directive. Scotland

Briefing Paper: Cross-border EU healthcare directive. Scotland Briefing Paper: Cross-border EU healthcare directive Scotland Briefing Paper: Cross-border EU healthcare directive if you are entitled to it here, then you can get it there. Introduction The EU Directive

More information

MODERN IMMUNOHISTOCHEMISTRY

MODERN IMMUNOHISTOCHEMISTRY MODERN IMMUNOHISTOCHEMISTRY Cambridge Illustrated Surgical Pathology Peiguo G. Chu City of Hope National Medical Center, Duarte, California Lawrence M. Weiss City of Hope National Medical Center, Duarte,

More information

Neonatal Hypotonia. Clinical Approach to Floppy Baby

Neonatal Hypotonia. Clinical Approach to Floppy Baby Neonatal Hypotonia Clinical Approach to Floppy Baby Hypotonia in the newborn is a common presenting feature of systemic illness or neurologic dysfunction at any level of the central or peripheral nervous

More information

General Thoracic Surgery ICD9 to ICD10 Crosswalks. C34.11 Malignant neoplasm of upper lobe, right bronchus or lung

General Thoracic Surgery ICD9 to ICD10 Crosswalks. C34.11 Malignant neoplasm of upper lobe, right bronchus or lung ICD-9 Code ICD-9 Description ICD-10 Code ICD-10 Description 150.3 Malignant neoplasm of upper third of esophagus C15.3 Malignant neoplasm of upper third of esophagus 150.4 Malignant neoplasm of middle

More information

ICD-10 coding rules for rare diseases

ICD-10 coding rules for rare diseases October 2014 ICD-10 coding rules for rare diseases Procedural document www.orpha.net Table of contents Table of contents... 2 General points... 3 I. Purpose... 3 II. Reference documents... 3 III. Range

More information

Cord Cor Blood Banking Scott N. Furlan, MD Ellen S. Plummer, Plummer MD

Cord Cor Blood Banking Scott N. Furlan, MD Ellen S. Plummer, Plummer MD Cord Blood Banking Scott N. Furlan, MD Ellen S.Plummer, MD Overview Background Biology of Stem Cell Transplant Opportunities i at Parkland Logistics of Banking Potential Barriers Indications for HCT Cancer

More information

The Newborn With a Congenital Disorder. Chapter 14. Copyright 2008 Wolters Kluwer Health Lippincott Williams & Wilkins

The Newborn With a Congenital Disorder. Chapter 14. Copyright 2008 Wolters Kluwer Health Lippincott Williams & Wilkins The Newborn With a Congenital Disorder Chapter 14 Congenital Anomalies or Malformations May be caused by genetic or environmental factors Approximately 2% to 3% of all infants born have a major malformation

More information

With our cover you are more likely to get a payout. Serious Illness Cover. pruprotect.co.uk

With our cover you are more likely to get a payout. Serious Illness Cover. pruprotect.co.uk With our cover you are more likely to get a payout Serious Illness Cover pruprotect.co.uk Serious Illness Cover PruProtect s Serious Illness Cover offers protection against serious illnesses as well as

More information

ERMInE Database. Presentation by Nils Flatabø SINTEF Energy Research. ERMInE Workshop 2 - Northern Europe Oslo, 1. November 2006

ERMInE Database. Presentation by Nils Flatabø SINTEF Energy Research. ERMInE Workshop 2 - Northern Europe Oslo, 1. November 2006 ERMInE Database Presentation by Nils Flatabø SINTEF Energy Research ERMInE Workshop 2 - Northern Europe Oslo, 1. November 26 Overview Content of the Ermine Database Electronic Questionnaire RTD&D Data

More information

ACMG Practice Guideline

ACMG Practice Guideline June 2007 Vol. 9 No. 6 ACMG Practice Guideline Indications for genetic referral: a guide for healthcare providers Beth A. Pletcher, MD 1, Helga V. Toriello, PhD 2, Sarah J. Noblin, MS, CGC 3, Laurie H.

More information

The Compassionate Allowances Initiative (CAL)

The Compassionate Allowances Initiative (CAL) The Compassionate Allowances Initiative (CAL) CAL s objective is to quickly identify conditions that invariably meet Social Security disability standards CAL initiative began with a public outreach hearing

More information

Common Cancers & Hereditary Syndromes

Common Cancers & Hereditary Syndromes Common Cancers & Hereditary Syndromes Elizabeth Hoodfar, MS, LCGC Regional Cancer Genetics Coordinator Kaiser Permanente Northern California Detect clinical characteristics of hereditary cancer syndromes.

More information

STEM CELLS : A THERAPEUTIC REVOLUTION JACQUES KADOCH ROBERT HEMMINGS MARINELA MANDRA

STEM CELLS : A THERAPEUTIC REVOLUTION JACQUES KADOCH ROBERT HEMMINGS MARINELA MANDRA STEM CELLS : A THERAPEUTIC REVOLUTION JACQUES KADOCH ROBERT HEMMINGS MARINELA MANDRA OVO CLINIC I 8000 BLVD DECARIE, MONTREAL QC H4P 2S4 I 514.798.2000 I OVOCLINIC.COM 2 a therapeutic revolution As the

More information

The Patient Access Network (PAN) Foundation Eligibility Diseases Targeted Contact Information

The Patient Access Network (PAN) Foundation Eligibility Diseases Targeted Contact Information The Patient Access Network (PAN) Foundation is an independent non-profit organization that provides assistance to underinsured patients for their out-of-pocket expenses through more than 40 disease-specific

More information

Our patent and trade mark attorneys are here to help you protect and profit from your ideas, making sure they re working every bit as hard as you do.

Our patent and trade mark attorneys are here to help you protect and profit from your ideas, making sure they re working every bit as hard as you do. Our patent and trade mark attorneys are here to help you protect and profit from your ideas, making sure they re working every bit as hard as you do. Our people work with everyone from multi-nationals

More information

Systemic Lupus Erythematosus

Systemic Lupus Erythematosus Harvard-MIT Division of Health Sciences and Technology HST.021: Musculoskeletal Pathophysiology, IAP 2006 Course Director: Dr. Dwight R. Robinson Systemic Lupus Erythematosus A multi-system autoimmune

More information

Covers 60 major critical illnesses. Covers 11 minor critical illnesses. ManuMulti Care

Covers 60 major critical illnesses. Covers 11 minor critical illnesses. ManuMulti Care It s a difficult subject to think about, but part of planning for the future is being prepared for the unexpected. Critical illness can happen to anyone, at any time. And it s an unfortunate fact, but

More information

Oncology Best Practice Documentation

Oncology Best Practice Documentation Oncology Best Practice Documentation Click on the desired Diagnoses link or press Enter to view all information. Diagnoses: Solid Tumors Lymphomas Leukemias Myelodysplastic Syndrome Pathology Findings

More information

SURVEY ON THE TRAINING OF GENERAL CARE NURSES IN THE EUROPEAN UNION. The current minimum training requirements for general care nurses

SURVEY ON THE TRAINING OF GENERAL CARE NURSES IN THE EUROPEAN UNION. The current minimum training requirements for general care nurses SURVEY ON THE TRAINING OF GENERAL CARE NURSES IN THE EUROPEAN UNION This survey serves as a background document for the discussion of the Commission's legislative proposal to modernize the minimum requirements

More information

SUPER CARE CRITICAL ILLNESS PROTECTOR

SUPER CARE CRITICAL ILLNESS PROTECTOR SUPER CARE CRITICAL ILLNESS PROTECTOR At ACE Life, we are committed to helping our valued customers achieve financial security and have a peace of mind through our comprehensive range of life insurance

More information

Closed Sub-TOI: L08.000 Life - Other Co Tr Num: BANRD-01 State Status: Approved-Closed

Closed Sub-TOI: L08.000 Life - Other Co Tr Num: BANRD-01 State Status: Approved-Closed Project Name/Number: / 01 Filing at a Glance Company: Banner Life Insurance Company SERFF Tr Num: FNBL-126416557 State: Arkansas TOI: L08 Life - Other SERFF Status: Closed-Approved- State Tr Num: 44441

More information

ENTERING THE EU BORDERS & VISAS THE SCHENGEN AREA OF FREE MOVEMENT. EU Schengen States. Non-Schengen EU States. Non-EU Schengen States.

ENTERING THE EU BORDERS & VISAS THE SCHENGEN AREA OF FREE MOVEMENT. EU Schengen States. Non-Schengen EU States. Non-EU Schengen States. ENTERING THE EU BORDERS & VISAS THE SCHENGEN AREA OF FREE MOVEMENT An area without internal borders where EU citizens and non-eu nationals may move freely EU Schengen States Non-Schengen EU States IS Azores

More information

Georgia Department of Human Resources BACKGROUND INFORMATION FOR NON-STATE AGENCY CHILD

Georgia Department of Human Resources BACKGROUND INFORMATION FOR NON-STATE AGENCY CHILD Georgia Department of Human Resources BACKGROUND INFORMATION FOR NON-STATE AGENCY CHILD Responsible Party Telephone Number Date Name of Child Date of Birth Time of Birth Sex Resident County Placement County

More information

With our cover you are more likely to get a payout. Serious Illness Cover. pruprotect.co.uk

With our cover you are more likely to get a payout. Serious Illness Cover. pruprotect.co.uk With our cover you are more likely to get a payout Serious Illness Cover pruprotect.co.uk Serious Illness Cover PruProtect s Serious Illness Cover offers protection against serious illnesses as well as

More information

Neuromuscular diseases

Neuromuscular diseases Neuromuscular diseases Spinal muscular atrophy - SMA characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem. SMA type 1, is also known as Werdnig-

More information

Medicare Supplement Plans Underwriting and Administration Guide

Medicare Supplement Plans Underwriting and Administration Guide Medicare Supplement Plans Underwriting and Administration Guide 024227 (09-2011) Table of Contents Introduction....1 Underwriting Concepts...1 Coverage....1 Eligibility Requirements...1 Eligibility Considerations...1

More information

LCD for Erythrocyte Sedimentation Rate (ESR)

LCD for Erythrocyte Sedimentation Rate (ESR) LCD for Erythrocyte Sedimentation Rate (ESR) Applicable CPT Code(s): 85651 Sedimentation Rate, Erythrocyte; Non-Automated 85652 Sedimentation Rate, Erythrocyte; Automated ICD-9 Codes that Support Medical

More information

New Hampshire Childhood Cancer

New Hampshire Childhood Cancer Introduction: New Hampshire Childhood Cancer New Hampshire, Childhood Cancer, January 2009 Issue Brief Cancer in children is relatively uncommon, impacting fewer than twenty two of every 100,000 children

More information

INVESTING IN INTANGIBLES: ECONOMIC ASSETS AND INNOVATION DRIVERS FOR GROWTH

INVESTING IN INTANGIBLES: ECONOMIC ASSETS AND INNOVATION DRIVERS FOR GROWTH Flash Eurobarometer INVESTING IN INTANGIBLES: ECONOMIC ASSETS AND INNOVATION DRIVERS FOR GROWTH REPORT Fieldwork: January February 213 Publication: May 213 This survey has been requested by the European

More information

Section V RARE AND EXPENSIVE CASE MANAGEMENT (REM) PROGRAM

Section V RARE AND EXPENSIVE CASE MANAGEMENT (REM) PROGRAM Section V RARE AND EXPENSIVE CASE MANAGEMENT (REM) PROGRAM 84 RARE AND EXPENSIVE CASE MANAGEMENT (REM) PROGRAM Overview The Department of Health and Mental Hygiene (DHMH) administers a Rare and Expensive

More information

Service Definition with all Clinical Terms Service: Laprascopic Cholecystectomy Clinic (No Gallstones in bile duct)

Service Definition with all Clinical Terms Service: Laprascopic Cholecystectomy Clinic (No Gallstones in bile duct) Service Definition with all Clinical Terms Service: Laprascopic Cholecystectomy Clinic (No Gallstones in bile duct) Section 1 Service Details Service ID: 7540540 Service Comments: Referrer Alert: Service

More information

INNOBAROMETER 2015 - THE INNOVATION TRENDS AT EU ENTERPRISES

INNOBAROMETER 2015 - THE INNOVATION TRENDS AT EU ENTERPRISES Eurobarometer INNOBAROMETER 2015 - THE INNOVATION TRENDS AT EU ENTERPRISES REPORT Fieldwork: February 2015 Publication: September 2015 This survey has been requested by the European Commission, Directorate-General

More information

Description Code Recommendation Description Code. All natural death 001-799 IPH All natural death A00-R99

Description Code Recommendation Description Code. All natural death 001-799 IPH All natural death A00-R99 Natural death Description Code Recommendation Description Code All natural death 001-799 IPH All natural death A00-R99 Infectious and parasitic diseases 001-139 CDC, EUROSTAT, CBS & VG Infectious and parasitic

More information

THE ROLE OF PUBLIC SUPPORT IN THE COMMERCIALISATION OF INNOVATIONS

THE ROLE OF PUBLIC SUPPORT IN THE COMMERCIALISATION OF INNOVATIONS Flash Eurobarometer THE ROLE OF PUBLIC SUPPORT IN THE COMMERCIALISATION OF INNOVATIONS REPORT Fieldwork: January February 2014 Publication: May 2014 This survey has been requested by the European Commission,

More information

CO2 BASED MOTOR VEHICLE TAXES IN THE EU IN 2015

CO2 BASED MOTOR VEHICLE TAXES IN THE EU IN 2015 CO2 BASED MOTOR VEHICLE TAXES IN THE EU IN 2015 COUNTRY AT (AUSTRIA) BE (BELGIUM) BG (BULGARIA) CO2/FUEL CONSUMPTION TAXES A fuel consumption tax (Normverbrauchsabgabe or NoVA) is levied upon the first

More information

BIRTH DEFECTS IN MICHIGAN All Cases Reported and Processed by April 15, 2008

BIRTH DEFECTS IN MICHIGAN All Cases Reported and Processed by April 15, 2008 MICHIGAN DEPARTMENT OF COMMUNITY HEALTH Division for Vital Records and Health Statistics MICHIGAN BIRTH DEFECTS SURVEILLANCE REGISTRY BIRTH DEFECTS IN MICHIGAN All Cases Reported and Processed by April

More information

DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES

DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES Extracts from a review article by KN North and KJ Jones: Recent advances in diagnosis of the childhood muscular dystrophies Journal of Paediatrics and Child Health

More information

Please leave this space blank

Please leave this space blank Please leave this space blank REQUEST FORM EXOME SEQUENCING Radboudumc 848 Human Genetics / Genome diagnostics Postbus 9101 6500 HB Nijmegen, The Netherlands Laboratory head: Dr. H. Yntema Tel : 0031-(0)24-3613799

More information

Estimated New Cases of Leukemia, Lymphoma, Myeloma 2014

Estimated New Cases of Leukemia, Lymphoma, Myeloma 2014 ABOUT BLOOD CANCERS Leukemia, Hodgkin lymphoma (HL), non-hodgkin lymphoma (NHL), myeloma, myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPNs) are types of cancer that can affect the

More information

OVERVIEW OF PURCHASE AND TAX INCENTIVES FOR ELECTRIC VEHICLES IN THE EU

OVERVIEW OF PURCHASE AND TAX INCENTIVES FOR ELECTRIC VEHICLES IN THE EU 01.04.2014 OVERVIEW OF PURCHASE AND TAX INCENTIVES FOR ELECTRIC VEHICLES IN THE EU This table provides an overview of the incentives that are granted in the Member States of the European Union for the

More information

GDP per capita, consumption per capita and comparative price levels in Europe

GDP per capita, consumption per capita and comparative price levels in Europe Economy and finance Author: Lars SVENNEBYE Statistics in focus 2008 GDP per capita, consumption per capita and comparative price levels in Europe Final results for 2005 and preliminary results for 2006

More information

Finnish foreign trade 2014 Figures and diagrams. 27.2.2015 FINNISH CUSTOMS Statistics 1

Finnish foreign trade 2014 Figures and diagrams. 27.2.2015 FINNISH CUSTOMS Statistics 1 Finnish foreign trade 214 Figures and diagrams 27.2.215 FINNISH CUSTOMS Statistics 1 IMPORTS, EXPORTS AND TRADE BALANCE 199-214 7 billion e 6 5 4 3 2 1-1 9 91 92 93 94 95 96 97 98 99 1 2 3 4 5 6 7 8 9

More information

CONTENTS SECTION 1 FUNDAMENTALS 1 SECTION 2 DRUGS 75 SECTION 3 DIGESTIVE DISORDERS 109. A Guide for Readers Understanding Medical Terms

CONTENTS SECTION 1 FUNDAMENTALS 1 SECTION 2 DRUGS 75 SECTION 3 DIGESTIVE DISORDERS 109. A Guide for Readers Understanding Medical Terms CONTENTS A Guide for Readers xxxix Understanding Medical Terms xli SECTION 1 FUNDAMENTALS 1 1 The Human Body 2 2 Genetics 8 3 Making the Most of Health Care 17 4 Prevention 28 5 Exercise and Fitness 38

More information

Contents. 1. Introduction and Approach to Fine Needle Aspiration Cytology... 1. 2. Head, Neck, Orbit and Salivary Glands... 12

Contents. 1. Introduction and Approach to Fine Needle Aspiration Cytology... 1. 2. Head, Neck, Orbit and Salivary Glands... 12 Contents 1. Introduction and Approach to Fine Needle Aspiration Cytology... 1 Complications 1 Fine Needle Aspiration Technique 1 Evaluation of FNAC Smear 4 Cell Morphology 4 Nucleus 4 Cytoplasm 6 Background

More information

Mendelian inheritance and the

Mendelian inheritance and the Mendelian inheritance and the most common genetic diseases Cornelia Schubert, MD, University of Goettingen, Dept. Human Genetics EUPRIM-Net course Genetics, Immunology and Breeding Mangement German Primate

More information

95% of childhood kidney cancer cases are Wilms tumours. Childhood kidney cancer is extremely rare, with only 90 cases a year in

95% of childhood kidney cancer cases are Wilms tumours. Childhood kidney cancer is extremely rare, with only 90 cases a year in James Whale Fund for Kidney Cancer Childhood kidney cancer factsheet Kidney cancer rarely afflicts children and about 90 paediatric cases are diagnosed in the UK each year. About 75% of childhood kidney

More information

Dublin, March 2013. EPSO Network of Experts in the field of Personnel Selection 14th March 2013

Dublin, March 2013. EPSO Network of Experts in the field of Personnel Selection 14th March 2013 Dublin, March 2013 EPSO Network of Experts in the field of Personnel Selection 14th March 2013 On-going and upcoming competitions AD2012 by Citizenship AD2012 Citizenship %EU Population validated application

More information

Allied, Therapeutic and Psychology Extender Benefit

Allied, Therapeutic and Psychology Extender Benefit Allied, Therapeutic and Psychology Extender Benefit 2013 The Allied, Therapeutic and Psychology Extender Benefit is available on the Enhanced Option only. Overview This document tells you about the Allied,

More information

Allied, Therapeutic and Psychology Extender Benefit

Allied, Therapeutic and Psychology Extender Benefit Allied, Therapeutic and Psychology Extender Benefit 2015 Allied, Therapeutic and Psychology Extender Benefit The Allied, Therapeutic and Psychology Extender Benefit is available on the Executive and Comprehensive

More information

New Jersey Department of Children and Families Policy Manual. Date: Chapter: C Case Management and Oversight Subchapter: 2 Services

New Jersey Department of Children and Families Policy Manual. Date: Chapter: C Case Management and Oversight Subchapter: 2 Services New Jersey Department of Children and Families Policy Manual Manual: CP&P Child Protection and Permanency Effective Volume: III Case Management Date: Chapter: C Case Management and Oversight Subchapter:

More information

Pediatric Oncology for Otolaryngologists

Pediatric Oncology for Otolaryngologists Pediatric Oncology for Otolaryngologists Frederick S. Huang, M.D. Division of Hematology/Oncology Department of Pediatrics The University of Texas Medical Branch Grand Rounds Presentation to Department

More information

NORD Guides for Physicians #1. Physician s Guide to. Tyrosinemia. Type 1

NORD Guides for Physicians #1. Physician s Guide to. Tyrosinemia. Type 1 NORD Guides for Physicians #1 The National Organization for Rare Disorders Physician s Guide to Tyrosinemia Type 1 The original version of this booklet was made possible by donations in honor of Danielle

More information

Implementing the cooperation mechanisms of the RES directive current status and open questions

Implementing the cooperation mechanisms of the RES directive current status and open questions Implementing the cooperation mechanisms of the RES directive current status and open questions Corinna Klessmann, Ecofys Germany RE-SHAPING Workshop, Vilnius, 16.05.2011 Supported by Intelligent Energy

More information

INNOVATION IN THE PUBLIC SECTOR: ITS PERCEPTION IN AND IMPACT ON BUSINESS

INNOVATION IN THE PUBLIC SECTOR: ITS PERCEPTION IN AND IMPACT ON BUSINESS Flash Eurobarometer INNOVATION IN THE PUBLIC SECTOR: ITS PERCEPTION IN AND IMPACT ON BUSINESS REPORT Fieldwork: February-March 22 Publication: June 22 This survey has been requested by the European Commission,

More information

TERATOGENESIS ONTOGENESIS

TERATOGENESIS ONTOGENESIS TERATOGENESIS ONTOGENESIS Inborn developmental defects Occured during prenatal development Are present by delivery At about 3-5 % newborns are affected. Inborn developmental defects 1. CHROMOSOMAL ABERRATIONS

More information

CCS - Does CCS provide Counseling or Support Services? CCS - Are there any costs to me? CCS - What papers should I bring?

CCS - Does CCS provide Counseling or Support Services? CCS - Are there any costs to me? CCS - What papers should I bring? CCS - Does CCS provide Counseling or Support Services? CCS - Are there any costs to me? CCS - What papers should I bring? CCS - What are the steps to CCS services? CCS - How is my privacy protected? CCS

More information

SERIOUS ILLNESS COVER

SERIOUS ILLNESS COVER WITH OUR COVER YOU ARE MORE LIKELY TO GET A PAYOUT VITALITY.CO.UK/LIFE Vitality s Serious Illness Cover offers protection against serious illnesses as well as advanced or life threatening ones THE AVERAGE

More information

Leukemias and Lymphomas: A primer

Leukemias and Lymphomas: A primer Leukemias and Lymphomas: A primer Normal blood contains circulating white blood cells, red blood cells and platelets 700 red cells (oxygen) 1 white cell Neutrophils (60%) bacterial infection Lymphocytes

More information

Indications in Hepatology and Liver Diseases

Indications in Hepatology and Liver Diseases exclusively working in Health Care sananet GmbH Tilo Stolzke Breite Str. 6-8 23562 Lübeck Germany Telefon : +49 451 400 8301 Telefax : +49 451 400 8302 E-Mail : stolzke@sananet.com Internet : www.sananet.com

More information

National and International Childhood Cancer Incidence and Time Trends

National and International Childhood Cancer Incidence and Time Trends National and International Childhood Cancer Incidence and Time Trends Charles Stiller Childhood Cancer Research Group Department of Paediatrics University of Oxford UK Childhood Cancer 2012 Childhood Cancer

More information

Critical Illness with Term Assurance

Critical Illness with Term Assurance AIG Life Critical Illness with Term Assurance Our comprehensive Critical Illness with Term Assurance delivers more value and quality to the customer and their family than ever before. It is designed to

More information

User language preferences online. Analytical report

User language preferences online. Analytical report Flash Eurobarometer 313 The Gallup Organization Flash Eurobarometer European Commission User language preferences online Analytical report Fieldwork: January 2011 Publication: May 2011 This survey was

More information

Jennifer A. Defant, M.S., C.G.C. Certified Genetic Counselor Division of Genetics and Metabolism University of Florida

Jennifer A. Defant, M.S., C.G.C. Certified Genetic Counselor Division of Genetics and Metabolism University of Florida Jennifer A. Defant, M.S., C.G.C. Certified Genetic Counselor Division of Genetics and Metabolism University of Florida 60% of childhood hearing loss is genetic Syndromic Nonsyndromic 40% of childhood hearing

More information

4/25/2016. Transplant Journey. Objectives. Reason for Transplantation at Mayo Clinic. Mayo Clinic Model of Care

4/25/2016. Transplant Journey. Objectives. Reason for Transplantation at Mayo Clinic. Mayo Clinic Model of Care Transplant Journey Lynette Fix, RN, BAN, CCTC Objectives Identify key components of transplant evaluation process Identify the patient follow-up process Describe diseases indicated for transplantation

More information

Corporate Medical Policy Genetic Testing for Fanconi Anemia

Corporate Medical Policy Genetic Testing for Fanconi Anemia Corporate Medical Policy Genetic Testing for Fanconi Anemia File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_fanconi_anemia 03/2015 3/2016 3/2017 3/2016 Description

More information

Saving lives globally through mutual miracles. LifeCord is a public non-profit cord blood bank licensed by the FDA.

Saving lives globally through mutual miracles. LifeCord is a public non-profit cord blood bank licensed by the FDA. Saving lives globally through mutual miracles LifeCord is a public non-profit cord blood bank licensed by the FDA. Donating your baby s cord to a public cord blood bank can save lives globally. You can

More information

How To Study The Small Ruminant Population In The European Land Animals

How To Study The Small Ruminant Population In The European Land Animals 1 Joint Research Centre (JRC) Economic Analysis of Electronic Identification (EID) of Small Ruminants in Member States IPSC - Institute for the Protection and Security of the Citizen Ispra - Italy http://ipsc.jrc.ec.europa.eu/

More information

Muscular Dystrophy. By. Tina Strauss

Muscular Dystrophy. By. Tina Strauss Muscular Dystrophy By. Tina Strauss Story Outline for Presentation on Muscular Dystrophy What is Muscular Dystrophy? Signs & Symptoms Types When to seek medical attention? Screening and Diagnosis Treatment

More information

190.25 - Alpha-fetoprotein

190.25 - Alpha-fetoprotein Other Names/Abbreviations AFP 190.25 - Alpha-fetoprotein Alpha-fetoprotein (AFP) is a polysaccharide found in some carcinomas. It is effective as a biochemical marker for monitoring the response of certain

More information

Comparison of annuity markets (OECD National Annuity Markets: Features and Implications, Rusconi 2008) Mercer

Comparison of annuity markets (OECD National Annuity Markets: Features and Implications, Rusconi 2008) Mercer May 2009 Retirement Income/Annuities Around the World What US Policy Makers Might Learn Barbara Marder, Baltimore Global Defined Contribution Consulting Leader www.mercer.com 1 Comparison of annuity markets

More information

Prevalence and incidence of rare diseases: Bibilographic data

Prevalence and incidence of rare diseases: Bibilographic data 2 March 2016 Prevalence and incidence of rare diseases: Bibilographic data s listed by decreasing prevalence, incidence or number of published cases www.orpha.net www.orphadata.org Methodology Orphanet

More information

Medical Surgical Nursing (Elsevier)

Medical Surgical Nursing (Elsevier) 1 of 6 I. The Musculoskeletal System Medical Surgical Nursing (Elsevier) 1. Med/Surg: Musculoskeletal System: The Comprehensive Health History 2. Med/Surg: Musculoskeletal System: A Nursing Approach to

More information

Influences on Birth Defects

Influences on Birth Defects Influences on Birth Defects FACTS About 150,000 babies are born each year with birth defects. The parents of one out of every 28 babies receive the frightening news that their baby has a birth defect There

More information

Critical PROVIDER FIELD UNDERWRITING GUIDE & RATE BOOK

Critical PROVIDER FIELD UNDERWRITING GUIDE & RATE BOOK G T L Critical PROVIDER FIELD UNDERWRITING GUIDE & RATE BOOK 10 OR 20 YEAR RENEWABLE TERM LIFE INSURANCE WITH A CRITICAL ILLNESS ACCELERATED BENEFIT RIDER WHICH PROVIDES CASH BENEFITS FOR 18 CRITICAL CONDITIONS

More information

Tumour Markers. What are Tumour Markers? How Are Tumour Markers Used?

Tumour Markers. What are Tumour Markers? How Are Tumour Markers Used? Dr. Anthony C.H. YING What are? Tumour markers are substances that can be found in the body when cancer is present. They are usually found in the blood or urine. They can be products of cancer cells or

More information

MALE AND FEMALE PANEL CHARTS

MALE AND FEMALE PANEL CHARTS MALE AND FEMALE PANEL CHARTS Complete Blood Count (CBC) Test What this test measures What test results may indicate Red blood cell count Total number of red blood cells Blood loss High altitude per volume

More information

LCD for Viral Hepatitis Serology Tests

LCD for Viral Hepatitis Serology Tests LCD for Viral Hepatitis Serology Tests Applicable CPT Code(s): 86692 Antibody; Hepatitis, Delta Agent 86704 Hepatitis B Core Antibody (HBcAb); Total 86705 Hepatitis B Core Antibody (HBcAb); IgM Antibody

More information

Your health is an asset. Don t let critical illness turn it into a liability.

Your health is an asset. Don t let critical illness turn it into a liability. Your health is an asset. Don t let critical illness turn it into a liability. 100% lump sum payout for critical illness1 including early stage My Early Critical Illness Plan Be financially prepared for

More information

Phoenix Remembrance Life

Phoenix Remembrance Life Phoenix Remembrance Life W e You Asked New Printer- Friendly Design! D e l i v e r e d Field Underwriting Guide For agent use only. Not for distribution to the public as sales literature. Phoenix Remembrance

More information

IKHLASlink Comprehensive Critical Illness Benefit Secure Takaful Rider

IKHLASlink Comprehensive Critical Illness Benefit Secure Takaful Rider IKHLASlink Comprehensive Critical Illness Benefit Secure Takaful Rider 1. IKHLASlink Comprehensive Critical Illness Benefit Secure Takaful Rider Securing life uncertainties. With IKHLASlink Comprehensive

More information

Pathology of lung cancer

Pathology of lung cancer Pathology of lung cancer EASO COURSE ON LUNG CANCER AND MESOTHELIOMA DAMASCUS (SYRIA), MAY 3-4, 2007 Gérard ABADJIAN MD Pathologist Associate Professor, Saint Joseph University Pathology Dept. Hôtel-Dieu

More information

Taxation of tobacco products in the European Union. Frank Van Driessche DG Taxation and Customs Union May 2006

Taxation of tobacco products in the European Union. Frank Van Driessche DG Taxation and Customs Union May 2006 1 Taxation of tobacco products in the European Union Frank Van Driessche DG Taxation and Customs Union May 2006 2 Legislation on taxation Directive 92/79/EEC (Approximation of taxes on cigarettes) Directive

More information

HOW COMPANIES INFLUENCE OUR SOCIETY: CITIZENS VIEW

HOW COMPANIES INFLUENCE OUR SOCIETY: CITIZENS VIEW Flash Eurobarometer HOW COMPANIES INFLUENCE OUR SOCIETY: CITIZENS VIEW REPORT Fieldwork: October-November 2012 Publication: April 2013 This survey has been requested by the European Commission, Directorate-General

More information

Common types of congenital heart defects

Common types of congenital heart defects Common types of congenital heart defects Congenital heart defects are abnormalities that develop before birth. They can occur in the heart's chambers, valves or blood vessels. A baby may be born with only

More information

Limited Pay Policy (L-222B) - Underwriting Guidelines

Limited Pay Policy (L-222B) - Underwriting Guidelines Limited Pay Policy (L-222B) - Underwriting Guidelines 1 Addiction/Abuser Drug - Past or Present Presently Recovered - AA for last 2 years 2 Aids 3 Alcoholic Presently Recovered - AA for last 2 years 4

More information

Management in the pre-hospital setting

Management in the pre-hospital setting Management in the pre-hospital setting Inflammation of the joints Two main types: Osteoarthritis - cartilage loss from wear and tear Rheumatoid arthritis - autoimmune disorder Affects all age groups,

More information

Voluntary health insurance and health care reforms

Voluntary health insurance and health care reforms Voluntary health insurance and health care reforms Sarah Thomson Senior Research Fellow, European Observatory Deputy Director, LSE Health IMF conference, Paris, 21 st June 2011 Health financing policy

More information

Index. F Factor VIII-related antigen, see VWF FactorXIIIa, for dermatofibroma, 272-275 5-HT, see Serotonin

Index. F Factor VIII-related antigen, see VWF FactorXIIIa, for dermatofibroma, 272-275 5-HT, see Serotonin A Acantholytic squamous cell carcinoma vs epithelioid angiosarcoma, 56-57 Acinic cell carcinoma of pancreas, 76-77 vs ductal adenocarcinoma, 74-75 vs islet cell tumor, 78-81 Adenomatoid tumor vs hemangioma,

More information