Lista Bolilor Rare înregistrate în Republica Moldova (draft)
Nr.Denumirea boliiDenumirea interna
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ional
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OMIMICD-10
Deregl
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rile metabolismului aminoacizilor/ Disorders of Amino Acids
1.Fenilcetonuria/ Hiperfenilalaninemia/ Fenilcetonuria matern
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Phenylketonuria (PKU)/ Hyperphenylalaninemia/ Maternal PKU261600E70.02.Boala urinii cu miros de sirop de ar
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ar MSUD tip Ia, Ib, II248600E71.03Hiperglicinemie non-ketotic
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Non-Ketotic Hyperglycinemia (NKH)605899E72.514.AlcaptonuriaAlkaptonuria203500E70.295.Atrofia girat
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a retinei
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i coroideiGyrate Atrophy of retina and choroidea258870H31.236.Dereglarea ciclului de Sintez
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a UreeiUrea Cycle Disorders (UCD)311250E72.20Altele
Acidurii organice/ Organic Acidurias
7.Acidurie metilmalonic
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Methylmalonic Aciduria (MMA)251000E71.1208.Acidurie propionic
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Propionic Aciduria (PA)606054E71.1219.Acidurie Glutaric
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tip 1Glutaric Aciduria type 1 (GA1)231670E72.310. Acidurie isovalerianic
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Isovaleric Aciduria (IVA)243500E71.11011.Acidurie Argininsuccinic
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Argininisuccinic Aciduria207900E72.22AlteleMaladii de stocaj al glicogenului/Glycogen Storage Disorders12.Glicogenoz
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tip 0 Glycogen Storage Disorders 0611556E74.0913.Glicogenoz
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tip IGlycogen Storage Disorders I232200E74.0114.Glicogenoz
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tip II (Boala Pompe)Glycogen storage disease II (Pompe Disease)232300E74.0215.Glicogenoz
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tip IIIGlycogen Storage Disorders III232400E74.0316.Glicogenoz
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tip VGlycogen Storage Disorders V232600E74.04
17.Glicogenoz
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tip VIIIGlycogen Storage Disorders VIIIE74.0918.Glicogenoz
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tip IVGlycogen Storage Disorders IV232500E74.0919.Glicogenoz
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tip VIGlycogen Storage Disorders VI232700E74.0920.Glicogenoz
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tip VIIGlycogen Storage Disorders VII232800E74.0921.Glicogenoz
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tip IXGlycogen Storage Disorders IX306000E74.0922.Glicogenoz
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tip XIGlycogen storage disease XI612933E74.0923.Glicogenoz
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tip XIIGlycogen storage disease XII611881E74.0924.Glicogenoz
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de etiologie nedeterminat
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Glycogen storage disease, unspecified?E74.00
Dereglarea metabolismului carbohidra
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ilor
25.FructozemiaHereditary Fructose Intolerance229600E74.1226.GalactozemiaGalactosemia230400E74.21
Maladii mitocondriale/ Mitochondrial Disorders
27.Sindromul LeighLeigh Syndrom256000E 31.8228..Sindromul LHON,LHON Syndrom535000H 47.2229.Sindromul MIDDMIDD Syndrom520000E 13.630.Sindromul NARPNARP Syndrom551500E88.4931.Sindromul MERRFMERRF Syndrom545000E88.4232.Sindromul MEGDELMEGDEL Syndrom614739E71.11133.Sindromul CPEOCPEO Syndrom157640H49.4334.Sindromul Kearn-Sazre)Kearn-Sayre Syndrom530000H49.8135.Sindromul Senger,Senger Syndrom21235036.Sindromul MELAS,MELAS Syndrom540000E88.4441Altele
Maladii monogenice/ Monogenic diseases
37.Fibroza Cistic
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Cystic Fibrosis (CF)219700E 84.939.Maladia WilsonWilson Disease 277900E83.01Altele
Abera
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ii cromosomiale/ Chromosomal Abnormality
40.Anomalii cromozomiale (unele) Chromosomal Abnormality609625Q99.941.Sindrom Di-GeorgeDi George's syndrome188400D82.1
Altele
Defecte de oxidare a acizilor gra
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i/Fatty Acid Oxydation Defects (FAOD)
42.Deficien
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a transportului de carnitin
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Carnitine transporter deficiency 212140E71.4143.Deficien
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a carnitine palmitoyltransferazei tip ICarnitine palmitoyl transferase deficiency, type 1 255120E71.31444.Deficien
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a carnitintranslocazeiCarnitine translocase deficiency212138E71.4245.Deficien
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a carnitine palmitoyl transferazei de tip II Carnitine palmitoyl transferase deficiency, type II 600650E71.31446.Deficien
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a acizilor gra
%
i cu catena foarte lung
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Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)201475E71.31047.Deficien
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a acizilor gra
%
i cu catena medieMedium chain acyl CoA dehydrogenase deficiency201450E71.31148.Deficien
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a acizilor gra
%
i cu catena foarte lung
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Short chain acyl CoA dehydrogenase deficiency201470E71.31249.Deficien
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a proteinei trifunc
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ionale mitocondriale Mitochondrial trifunctional protein deficiency609015E71.31850.Acidurie glutaric
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tip IIGlutaric aciduria type II231680E71.31351.Acidurie 3-methylglutaconic
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3-hydroxy-3-methylglutaryl-Co-A synthase deficiency600234E71.111152.Deficien
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a HMG-CoA liazei HMG-CoA lyase deficiency246450E71.31
Boli lisosomale, Sfingolipidoze/ Lysosomal Disorders, Sphingolipidoses
53.Maladia Gaucher tip IGaucher Disease type I230800E75.2254.Maladia Gaucher tip IIGaucher Disease type II230900E75.2255.Maladia Gaucher tip IIIGaucher Disease type III231000E75.2256.Maladia Gaucher tip IIICGaucher Disease type IIIC231005E75.2257.GM-1- Gangliozidoz
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tip I, GM-1-Gangliosidosis type 1 230500E75.0- E75.158.GM-1- Gangliozidoz
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tip II GM-1-Gangliosidosis type II230600E75.1959.GM-1- Gangliozidoz
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tip III GM-1-Gangliosidosis type III230560E75.1960.GM-2- Gangliozidoz
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tip A (Boala Tay-Sachs)GM-2-Gangliosidosis type A (Tay-Sachs Disease)272800E75.02