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Added the EDRD csv Data files
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RanadheerRG committed Jan 3, 2025
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95 changes: 95 additions & 0 deletions EDRD-Data/CodeSet.csv
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Name,Code,CodeSetType,IsActive
Atypical hemolytic uremic syndrome,789660001,SNOMED ID,TRUE
Hemolytic anemia (disorder),61261009,SNOMED ID,TRUE
Paroxysmal nocturnal hemoglobinuria (disorder),1963002,SNOMED ID,TRUE
Cystic fibrosis (disorder),190905008,SNOMED ID,TRUE
Spinal muscular atrophy (disorder),5262007,SNOMED ID,TRUE
Juvenile neuronal ceroid lipofuscinosis (disorder),61663001,SNOMED ID,TRUE
Mucopolysaccharidosis (disorder),11380006,SNOMED ID,TRUE
Morquio syndrome (disorder),378007,SNOMED ID,TRUE
Infantile hypophosphatasia (disorder),55236002,SNOMED ID,TRUE
Hypophosphatemia (disorder),4996001,SNOMED ID,TRUE
Cystinosis (disorder),190681003,SNOMED ID,TRUE
Fabry's disease (disorder),16652001,SNOMED ID,TRUE
Mucopolysaccharidosis type I-S (disorder),73123008,SNOMED ID,TRUE
Mucopolysaccharidosis type I (disorder),75610003,SNOMED ID,TRUE
Mucopolysaccharidosis type II (disorder),70737009,SNOMED ID,TRUE
"Niemann-Pick disease, type C",66751000,SNOMED ID,TRUE
Glucosylceramide beta-glucosidase deficiency (disorder),190794006,SNOMED ID,TRUE
"Glycogen storage disease, type II (disorder)",274864009,SNOMED ID,TRUE
Multisystem inflammatory syndrome in children (disorder),895448002,SNOMED ID,TRUE
Familial amyloid nephropathy with urticaria AND deafness (disorder),15123008,SNOMED ID,TRUE
Urticaria caused by cold (disorder),74774004,SNOMED ID,TRUE
"Chronic infantile neurological, cutaneous and articular syndrome (disorder)",239826001,SNOMED ID,TRUE
Amyloidosis (disorder),17602002,SNOMED ID,TRUE
Polyneuropathy (disorder),42345000,SNOMED ID,TRUE
Angioedema (disorder),41291007,SNOMED ID,TRUE
Cardiomyopathy (disorder),85898001,SNOMED ID,TRUE
Retinitis pigmentosa (disorder),28835009,SNOMED ID,TRUE
Retinal dystrophy (disorder),314407005,SNOMED ID,TRUE
Retinal disorder (disorder),29555009,SNOMED ID,TRUE
Disorder of lipid metabolism (disorder),267431006,SNOMED ID,TRUE
Lipid Storage disease (disorder),10741005,SNOMED ID,TRUE
Carnitine palmitoyltransferase I deficiency (disorder),238001003,SNOMED ID,TRUE
Carnitine palmitoyltransferase II deficiency (disorder),238002005,SNOMED ID,TRUE
Carnitine palmitoyltransferase deficiency (disorder),90500005,SNOMED ID,TRUE
Very long chain acyl-coenzyme A dehydraogenase deficiency (disorder),237997005,SNOMED ID,TRUE
Mitochondrial trifunctional protein deficiency (disorder),237999008,SNOMED ID,TRUE
Long chain acyl-coenzyme A dehydrogenease deficiency (disorder),237996001,SNOMED ID,TRUE
Acute intermittent porphyria (disorder),234422006,SNOMED ID,TRUE
Primary hyperoxaluria (disorder),17901006,SNOMED ID,TRUE
Growth retardation (disorder),444896005,SNOMED ID,TRUE
Thrombotic microangiopathy,M311,ICD-10,TRUE
"Hereditary haemolytic anaemia, unspecified",D589,ICD-10,TRUE
Paroxysmal nocturnal haemoglobinuria [Marchiafava-Micheli],D595,ICD-10,TRUE
"Cystic fibrosis, unspecified",E849,ICD-10,TRUE
"Spinal muscular atrophy, unspecified",G129,ICD-10,TRUE
Neuronal ceroid lipofuscinosis,E754,ICD-10,TRUE
"Mucopolysaccharidosis, unspecified",E763,ICD-10,TRUE
Other mucopolysaccharidoses,E762,ICD-10,TRUE
Disorders of phosphorus metabolism and phosphatases,E833,ICD-10,TRUE
Disorders of amino-acid transport,E720,ICD-10,TRUE
Other sphingolipidosis,E752,ICD-10,TRUE
"Mucopolysaccharidosis, type I",E760,ICD-10,TRUE
"Mucopolysaccharidosis, type II",E761,ICD-10,TRUE
Glycogen storage disease,E740,ICD-10,TRUE
Multisystem inflammatory syndrome associated with COVID-19,U073,ICD-10,TRUE
Non-neuropathic heredofamilial amyloidosis,E850,ICD-10,TRUE
Urticaria due to cold and heat (ICD-10),L502,ICD-10,TRUE
"Amyloidosis, unspecified",E859,ICD-10,TRUE
"Polyneuropathy, unspecified",G629,ICD-10,TRUE
Angioneurotic oedema (ICD-10),T783,ICD-10,TRUE
"Cardiomyopathy, unspecified",I429,ICD-10,TRUE
Hereditary retinal dystrophy,H355,ICD-10,TRUE
"Retinal disorder, unspecified",H359,ICD-10,TRUE
"Disorder of lipoprotein metabolism, unspecified",E789,ICD-10,TRUE
"Lipid storage disorder, unspecified",E756,ICD-10,TRUE
Disorders of fatty-acid metabolism,E713,ICD-10,TRUE
Other porphyria,E802,ICD-10,TRUE
Other specified disorders of carbohydrate metabolism,E748,ICD-10,TRUE
"Short stature, not elsewhere classified",E343,ICD-10,TRUE
Thrombotic microangioapathy,4446,ICD-9,TRUE
"Hereditary haemolytic anaemias, unspecified",2829,ICD-9,TRUE
Hemoglobinuria due to hemolysis from external causes,2832,ICD-9,TRUE
Cystic fibrosis,2770,ICD-9,TRUE
Spinal muscular atrophy,3351,ICD-9,TRUE
Cerebral lipidoses,3301,ICD-9,TRUE
Mucopolysaccharidosis,2775,ICD-9,TRUE
Disorders of phosphorus metabolism,2753,ICD-9,TRUE
Disturbances of amino-acid transport,2700,ICD-9,TRUE
Lipidoses,2727,ICD-9,TRUE
Glycogenosis,2710,ICD-9,TRUE
"Viral infection in conditions classified elsewhere, other",798,ICD-9,TRUE
Amyloidosis,2773,ICD-9,TRUE
Urticaria due to cold and heat (ICD-9),7082,ICD-9,TRUE
Other specified congenital anomalies,7598,ICD-9,TRUE
"Hereditary and idiopathic peripheral neuropathy, unspecified",3569,ICD-9,TRUE
Angioneurotic oedema (ICD-9),9951,ICD-9,TRUE
Other primary cardiomyopathies,4254,ICD-9,TRUE
Hereditary retinal dystrophies,3627,ICD-9,TRUE
Unspecified retinal disorders,3629,ICD-9,TRUE
"Disorders of lipoid metabolism, unspecified disorders of lipoid metabolism",2729,ICD-9,TRUE
Other specified disorders of metabolism,2778,ICD-9,TRUE
Disorders of porphyrin metabolism,2771,ICD-9,TRUE
Lack of expected normal physiological development,7834,ICD-9,TRUE
Other specified disorders of carbohydrate transport and metabolism,2718,ICD-9,TRUE
27 changes: 27 additions & 0 deletions EDRD-Data/CodeSetBundle.csv
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RecordType,Name,CodeSet1.Name,CodeSet2.Name,CodeSet3.Name,CodeSet4.Name,CodeSet5.Name,CodeSet6.Name,CodeSet7.Name,CodeSet8.Name,CodeSet9.Name,CodeSet10.Name,CodeSet11.Name
EDRD Code Set Bundle,atypical hemolytic uremic syndrome - aHUS,Atypical hemolytic uremic syndrome,Hemolytic anemia (disorder),Thrombotic microangiopathy,"Hereditary haemolytic anaemia, unspecified",Thrombotic microangioapathy,"Hereditary haemolytic anaemias, unspecified",,,,,
EDRD Code Set Bundle,paroxysmal nocturnal hemoglobinuria - PNH,Paroxysmal nocturnal hemoglobinuria (disorder),Paroxysmal nocturnal haemoglobinuria [Marchiafava-Micheli],Hemoglobinuria due to hemolysis from external causes,,,,,,,,
EDRD Code Set Bundle,cystic fibrosis - CF,Cystic fibrosis (disorder),"Cystic fibrosis, unspecified",Cystic fibrosis,,,,,,,,
EDRD Code Set Bundle,spinal muscular atrophy - SMA,Spinal muscular atrophy (disorder),"Spinal muscular atrophy, unspecified",Spinal muscular atrophy,,,,,,,,
EDRD Code Set Bundle,neuronal ceroid lipofuscinosis type 2 - NCL,Juvenile neuronal ceroid lipofuscinosis (disorder),Neuronal ceroid lipofuscinosis,Cerebral lipidoses,,,,,,,,
EDRD Code Set Bundle,mucopolysaccharidosis 4 - MPS4,Mucopolysaccharidosis (disorder),Morquio syndrome (disorder),"Mucopolysaccharidosis, unspecified",Other mucopolysaccharidoses,Mucopolysaccharidosis,,,,,,
EDRD Code Set Bundle,hypophosphatasia - HPP,Infantile hypophosphatasia (disorder),Hypophosphatemia (disorder),Disorders of phosphorus metabolism and phosphatases,Disorders of phosphorus metabolism,,,,,,,
EDRD Code Set Bundle,nephropathic cystinosis - cystinosis,Cystinosis (disorder),Disorders of amino-acid transport,Disturbances of amino-acid transport,,,,,,,,
EDRD Code Set Bundle,Fabry disease - Fabry,Fabry's disease (disorder),Other sphingolipidosis,Lipidoses,,,,,,,,
EDRD Code Set Bundle,severe primary insulin-like growth factor-1 deficiency - SPIGFD,Growth retardation (disorder),"Short stature, not elsewhere classified",Lack of expected normal physiological development,,,,,,,,
EDRD Code Set Bundle,acute hepatic prophyria - AHP,Acute intermittent porphyria (disorder),Other porphyria,Disorders of porphyrin metabolism,,,,,,,,
EDRD Code Set Bundle,lysosomal acid lipase deficiency - LAL-D,Disorder of lipid metabolism (disorder),Lipid Storage disease (disorder),"Disorder of lipoprotein metabolism, unspecified","Lipid storage disorder, unspecified","Disorders of lipoid metabolism, unspecified disorders of lipoid metabolism",Lipidoses,,,,,
EDRD Code Set Bundle,transthyretin-mediated amyloidosis - cardiomyopathy - ATTR-CM,Amyloidosis (disorder),"Amyloidosis, unspecified",Amyloidosis,Cardiomyopathy (disorder),"Cardiomyopathy, unspecified",Other primary cardiomyopathies,,,,,
EDRD Code Set Bundle,hereditary transthyretin-mediated amyloidosis - hATTR,Amyloidosis (disorder),Polyneuropathy (disorder),"Amyloidosis, unspecified","Polyneuropathy, unspecified",Amyloidosis,"Hereditary and idiopathic peripheral neuropathy, unspecified",,,,,
EDRD Code Set Bundle,x-linked hypophosphataemia - XLH,Hypophosphatemia (disorder),Disorders of phosphorus metabolism and phosphatases,Disorders of phosphorus metabolism,,,,,,,,
EDRD Code Set Bundle,hereditary angioedema - HAE,Angioedema (disorder),Angioneurotic oedema (ICD-9),Angioneurotic oedema (ICD-10),,,,,,,,
EDRD Code Set Bundle,mucopolysaccharidosis II - MPS2,Mucopolysaccharidosis (disorder),Mucopolysaccharidosis type II (disorder),"Mucopolysaccharidosis, unspecified",Mucopolysaccharidosis,"Mucopolysaccharidosis, type II",,,,,,
EDRD Code Set Bundle,mucopolysaccharidosis 6 - MPS6,Mucopolysaccharidosis (disorder),"Mucopolysaccharidosis, unspecified",Mucopolysaccharidosis,,,,,,,,
EDRD Code Set Bundle,Niemann-Pick type C disease - NPC,"Niemann-Pick disease, type C",Other sphingolipidosis,Lipidoses,,,,,,,,
EDRD Code Set Bundle,Gaucher disease type 1 - Gaucher,Glucosylceramide beta-glucosidase deficiency (disorder),Other sphingolipidosis,Lipidoses,,,,,,,,
EDRD Code Set Bundle,Pompe disease - Pompe,"Glycogen storage disease, type II (disorder)",Glycogen storage disease,Glycogenosis,,,,,,,,
EDRD Code Set Bundle,mucopolysaccharidosis I - MPS1,Mucopolysaccharidosis type I-S (disorder),Mucopolysaccharidosis (disorder),Mucopolysaccharidosis type I (disorder),"Mucopolysaccharidosis, type I","Mucopolysaccharidosis, unspecified",Mucopolysaccharidosis,,,,,
EDRD Code Set Bundle,cryopyrin-associated periodic syndromes - CAPS,Multisystem inflammatory syndrome in children (disorder),Familial amyloid nephropathy with urticaria AND deafness (disorder),Urticaria caused by cold (disorder),"Chronic infantile neurological, cutaneous and articular syndrome (disorder)",Multisystem inflammatory syndrome associated with COVID-19,Non-neuropathic heredofamilial amyloidosis,Urticaria due to cold and heat (ICD-9),"Viral infection in conditions classified elsewhere, other",Amyloidosis,Urticaria due to cold and heat (ICD-10),Other specified congenital anomalies
EDRD Code Set Bundle,inherited retinal dystrophy (RPE65 mutations) - IRD,Retinitis pigmentosa (disorder),Retinal dystrophy (disorder),Retinal disorder (disorder),Hereditary retinal dystrophy,"Retinal disorder, unspecified",Hereditary retinal dystrophies,Unspecified retinal disorders,,,,
EDRD Code Set Bundle,long-chain fatty acid oxidation disorders - LC-FAOD,Carnitine palmitoyltransferase I deficiency (disorder),Carnitine palmitoyltransferase II deficiency (disorder),Carnitine palmitoyltransferase deficiency (disorder),Very long chain acyl-coenzyme A dehydraogenase deficiency (disorder),Mitochondrial trifunctional protein deficiency (disorder),Long chain acyl-coenzyme A dehydrogenease deficiency (disorder),Disorders of fatty-acid metabolism,Other specified disorders of metabolism,,,
EDRD Code Set Bundle,primary hyperoxaluria type 1 - PH1,Primary hyperoxaluria (disorder),Other specified disorders of carbohydrate metabolism,Other specified disorders of carbohydrate transport and metabolism,,,,,,,,
19 changes: 19 additions & 0 deletions EDRD-Data/Manufacturer Account.csv
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Account Name,RecordType
Akcea Therapeutics Inc.,Manufacturer
Alexion Pharma GMBH,Manufacturer
Alnylam Netherlands B.V.,Manufacturer
Amicus Therapeutics Canada Inc.,Manufacturer
Biogen Canada Inc.,Manufacturer
BioMarin International Limited,Manufacturer
Hoffmann-La Roche Limited,Manufacturer
Horizon Therapeutics Ireland Dac,Manufacturer
Ipsen Biopharmaceuticals Canada Inc.,Manufacturer
Kyowa Kirin Inc.,Manufacturer
Novartis Pharmaceuticals Canada Inc.,Manufacturer
Pfizer Canada ULC,Manufacturer
Sandoz Canada Incorporated,Manufacturer
Sanofi-Aventis Canada Inc.,Manufacturer
Takeda Canada Inc.,Manufacturer
Ultragenyx Pharmaceutical Inc.,Manufacturer
Vertex Pharmaceuticals (Canada) Incorporated,Manufacturer
Swedish Orphan Biovitrum AB (Publ),Manufacturer
36 changes: 36 additions & 0 deletions EDRD-Data/MedicalDiagnosis.csv
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HealthcareDiagnosis,Medication
acute hepatic prophyria - AHP,givosiran
atypical hemolytic uremic syndrome - aHUS,eculizumab-aHUS
cryopyrin-associated periodic syndromes - CAPS,canakinumab
cystic fibrosis - CF,ivacaftor
cystic fibrosis - CF,elexacaftor/tezacaftor/ivacaftor
Fabry disease - Fabry,migalastat
Fabry disease - Fabry,agalsidase alfa
Fabry disease - Fabry,agalsidase beta
Gaucher disease type 1 - Gaucher,velaglucerase alfa
Gaucher disease type 1 - Gaucher,miglustat-Gaucher
hereditary angioedema - HAE,lanadelumab
hereditary transthyretin-mediated amyloidosis - hATTR,patisiran
hereditary transthyretin-mediated amyloidosis - hATTR,inotersen
hypophosphatasia - HPP,asfotase alfa
inherited retinal dystrophy (RPE65 mutations) - IRD,voretigene neparvovec
long-chain fatty acid oxidation disorders - LC-FAOD,triheptanoin
lysosomal acid lipase deficiency - LAL-D,sebelipase alfa
mucopolysaccharidosis 4 - MPS4,elosulfase alfa
mucopolysaccharidosis 6 - MPS6,galsulfase
mucopolysaccharidosis I - MPS1,laronidase
mucopolysaccharidosis II - MPS2,idursulfase
nephropathic cystinosis - cystinosis,cysteamine
neuronal ceroid lipofuscinosis type 2 - NCL,cerliponase alfa
Niemann-Pick type C disease - NPC,miglustat-NPC
paroxysmal nocturnal hemoglobinuria - PNH,eculizumab-PNH
Pompe disease - Pompe,alglucosidase alfa
severe primary insulin-like growth factor-1 deficiency - SPIGFD,mecasermin
spinal muscular atrophy - SMA,nusinersen
spinal muscular atrophy - SMA,risdiplam
spinal muscular atrophy - SMA,onasemnogene abeparvovec
transthyretin-mediated amyloidosis - cardiomyopathy - ATTR-CM,tafamidis - Vyndamax
transthyretin-mediated amyloidosis - cardiomyopathy - ATTR-CM,tafamidis - Vyndaqel
x-linked hypophosphataemia - XLH,burosumab
primary hyperoxaluria type 1 - PH1,lumasiran
paroxysmal nocturnal hemoglobinuria - PNH,pegcetacoplan
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