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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 |
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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,,,,,,,, |
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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 |
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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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