Lista Bolilor Rare înregistrate în Republica Moldova (draft)

Nr. Denumirea bolii Denumirea internaţională OMIM ICD-10

Dereglările metabolismului aminoacizilor/ Disorders of Amino Acids
1. Fenilcetonuria/ Phenylketonuria (PKU)/ 261600 E70.0
Hiperfenilalaninemia/ Hyperphenylalaninemia/
Fenilcetonuria maternă Maternal PKU
2. Boala urinii cu miros de sirop MSUD tip Ia, Ib, II 248600 E71.0
de arțar
3 Hiperglicinemie non-ketotică Non-Ketotic Hyperglycinemia 605899 E72.51
(NKH)
4. Alcaptonuria Alkaptonuria 203500 E70.29
5. Atrofia girată a retinei şi Gyrate Atrophy of retina and 258870 H31.23
coroidei choroidea
6. Dereglarea ciclului de Sinteză Urea Cycle Disorders (UCD) 311250 E72.20
a Ureei
Altele
Acidurii organice/ Organic Acidurias
7. Acidurie metilmalonică Methylmalonic Aciduria (MMA) 251000 E71.120
8. Acidurie propionică Propionic Aciduria (PA) 606054 E71.121
9. Acidurie Glutarică tip 1 Glutaric Aciduria type 1 (GA1) 231670 E72.3
10. Acidurie isovalerianică Isovaleric Aciduria (IVA) 243500 E71.110
11. Acidurie Argininsuccinică Argininisuccinic Aciduria 207900 E72.22
Altele
Maladii de stocaj al glicogenului/Glycogen Storage Disorders
12. Glicogenoză tip 0 Glycogen Storage Disorders 0 611556 E74.09
13. Glicogenoză tip I Glycogen Storage Disorders I 232200 E74.01
14. Glicogenoză tip II (Boala Glycogen storage disease II 232300 E74.02
Pompe) (Pompe Disease)
15. Glicogenoză tip III Glycogen Storage Disorders III 232400 E74.03
16. Glicogenoză tip V Glycogen Storage Disorders V 232600 E74.04
17. Glicogenoză tip VIII Glycogen Storage Disorders VIII E74.09
18. Glicogenoză tip IV Glycogen Storage Disorders IV 232500 E74.09
19. Glicogenoză tip VI Glycogen Storage Disorders VI 232700 E74.09
20. Glicogenoză tip VII Glycogen Storage Disorders VII 232800 E74.09
21. Glicogenoză tip IX Glycogen Storage Disorders IX 306000 E74.09
22. Glicogenoză tip XI Glycogen storage disease XI 612933 E74.09
23. Glicogenoză tip XII Glycogen storage disease XII 611881 E74.09
24. Glicogenoză de etiologie Glycogen storage disease, ? E74.00
nedeterminată unspecified
Dereglarea metabolismului carbohidraților
25. Fructozemia Hereditary Fructose Intolerance 229600 E74.12
26. Galactozemia Galactosemia 230400 E74.21
Maladii mitocondriale/ Mitochondrial Disorders
27. Sindromul Leigh Leigh Syndrom 256000 E 31.82
28.. Sindromul LHON, LHON Syndrom 535000 H 47.22
29. Sindromul MIDD MIDD Syndrom 520000 E 13.6
30. Sindromul NARP NARP Syndrom 551500 E88.49
31. Sindromul MERRF MERRF Syndrom 545000 E88.42
32. Sindromul MEGDEL MEGDEL Syndrom 614739 E71.111
33. Sindromul CPEO CPEO Syndrom 157640 H49.43
34. Sindromul Kearn-Sazre) Kearn-Sayre Syndrom 530000 H49.81
35. Sindromul Senger, Senger Syndrom 212350
36. Sindromul MELAS, MELAS Syndrom 540000 E88.4441
Altele
Maladii monogenice/ Monogenic diseases
37. Fibroza Cistică Cystic Fibrosis (CF) 219700 E 84.9
39. Maladia Wilson Wilson Disease 277900 E83.01
Altele
Aberații cromosomiale/ Chromosomal Abnormality
40. Anomalii cromozomiale Chromosomal Abnormality 609625 Q99.9
(unele)
41. Sindrom Di-George Di George's syndrome 188400 D82.1
 Altele
Defecte de oxidare a acizilor graşi/Fatty Acid Oxydation Defects (FAOD)
42. Deficiența transportului de Carnitine transporter deficiency 212140 E71.41
carnitină
43. Deficiența carnitine Carnitine palmitoyl transferase 255120 E71.314
palmitoyltransferazei tip I deficiency, type 1
44. Deficiența carnitintranslocazei Carnitine translocase deficiency 212138 E71.42
45. Deficiența carnitine palmitoyl Carnitine palmitoyl transferase 600650 E71.314
transferazei de tip II deficiency, type II
46. Deficiența acizilor grași cu Very long-chain acyl-CoA 201475 E71.310
catena foarte lungă dehydrogenase deficiency
(VLCAD)
47. Deficiența acizilor grași cu Medium chain acyl CoA 201450 E71.311
catena medie dehydrogenase deficiency
48. Deficiența acizilor grași cu Short chain acyl CoA 201470 E71.312
catena foarte lungă dehydrogenase deficiency
49. Deficiența proteinei Mitochondrial trifunctional protein 609015 E71.318
trifuncționale mitocondriale deficiency
50. Acidurie glutarică tip II Glutaric aciduria type II 231680 E71.313
51. Acidurie 3-methylglutaconică 3-hydroxy-3-methylglutaryl-Co- 600234 E71.111
A synthase deficiency 1
52. Deficiența HMG-CoA liazei HMG-CoA lyase deficiency 246450 E71.31
Boli lisosomale, Sfingolipidoze/ Lysosomal Disorders, Sphingolipidoses
53. Maladia Gaucher tip I Gaucher Disease type I 230800 E75.22
54. Maladia Gaucher tip II Gaucher Disease type II 230900 E75.22
55. Maladia Gaucher tip III Gaucher Disease type III 231000 E75.22
56. Maladia Gaucher tip IIIC Gaucher Disease type IIIC 231005 E75.22
57. GM-1- Gangliozidoză tip I, GM-1-Gangliosidosis type 1 230500 E75.0-
E75.1
58. GM-1- Gangliozidoză tip II GM-1-Gangliosidosis type II 230600 E75.19

59. GM-1- Gangliozidoză tip III GM-1-Gangliosidosis type III 230560 E75.19

60. GM-2- Gangliozidoză tip A GM-2-Gangliosidosis type A (Tay- 272800 E75.02

(Boala Tay-Sachs) Sachs Disease)
61. GM-2- Gangliozidoză tip O GM-2-Gangliosidosis type O 268800 E75.0
(Boala Sandhoff) (Sandhoff Disease)
62. GM-2- Gangliozidoză tip AB GM-2-Gangliosidosis type AB 272750 E75.00
(deficitul GM2-activatorului) (GM2- activator deficiency)
63. Maladia Nieman-Pick tip A Nieman-Pick disease type A 275200 E75.240
64. Maladia Nieman-Pick tip B Nieman-Pick disease type B 607616 E75.241
607608
65. Maladia Nieman-Pick tip C Nieman-Pick disease type C 257220 E75.242
607625
66. Maladia Nieman-Pick tip D Nieman-Pick disease type D 275220 E75.243
67. Boala Fabry Fabry Disease 301500 E75.21
68. Adrenoleucodistrofie X- X-linked Adrenoleucodystrophy 300100 E71.529
linkata (X-ALD)
69. Maladia Krabbe Krabbe disease 245200 E75.23
70. Leucodistrofie metacromatică Metachromatic leukodystrophy 250100 E75.25
Altele
Boli lisosomale, Lipofuscinoze / Lysosomal Disorders, Lipofuscinoses
71. Lipofuscinoza ceroid Infantile Neuronal Ceroid 256730 E75.4
neuronală infantilă (Boala Lipofuscinosis (Santavuori-Haltia
Santavuori-Haltia) Disease)
72. Lipofuscinoza ceroid Late Infantile Neuronal Ceroid 204500 E75.4
neuronală tardiv infantilă Lipofuscinosis (Jansky-
(Boala Jansky-Bielschowschy) Bielschowschy Disease)
73. Lipofuscinoza ceroid Juvenile Neuronal Ceroid 204200 E75.4
neuronală juvenilă (Boala Lipofuscinosis (Batten Disease)
Batten)
74. Lipofuscinoza ceroid Adult Neuronal Ceroid 204300 E75.4
neuronală forma adultă (Boala Lipofuscinosis (Kufs Disease)
Kufs)
Boli lisosomale, Mucopolizaharidoze/Lysosomal Disorders, Mucopolysaccharidoses
75. Mucopolizaharidoza tip I Mucopolysaccharidoses (MPS) 607016 E 76.0
type I
76. Mucopolizaharidoza tip II MPS type II 309900 E76.1
77. Mucopolizaharidoza tip III A MPS type III A 252900 E76.22
78. Mucopolizaharidoza tip III B MPS type III B 252920 E76.22
79. Mucopolizaharidoza tip III C MPS type III C 252930 E76.22
80. Mucopolizaharidoza tip III D MPS type III D 252940 E76.22
81. Mucopolizaharidoza tip IVA MPS type IV A 253000 E76.210
82. Mucopolizaharidoza tip IVB MPS type IV B 253010 E76.211
83. Mucopolizaharidoza tip VI MPS type VI 253200 E76.29
84. Mucopolizaharidoza tip VII MPS type VII 253220 E76.29
85. Mucopolizaharidoza tip IX MPS type IX 601492 E76.3
Maladii scheletale/ Skeletal disease
86. Fibrodisplazia Osificanta Fibrodisplasia Ossificans 135100 M61.1
Progresiva Progressiva (FOP)
Altele
Tulburări ale proceselor de Glicozilare /Congenital Disorders of Glycosylation (CDG)
87. Tulburări ale proceselor de CDG type Ia 212065 E74.8
Glicozilare tip Ia
88. Tulburări ale proceselor de CDG Ib 602579 E74.8
Glicozilare Ib
89. Tulburări ale proceselor de CDG Ic 603147 E74.8
Glicozilare Ic
90. Tulburări ale proceselor de CDG Ig 607143 E74.8
Glicozilare Ig
91. Tulburări ale proceselor de CDG Ie 608799 E74.8
Glicozilare Ie
92. Tulburări ale proceselor de CDG Ik 608540 E74.8
Glicozilare Ik
93. Tulburări ale proceselor de CDG Id 601110 E74.8
Glicozilare Id
94. Tulburări ale proceselor de CDG It 614920 E74.8
Glicozilare It
95. Tulburări ale proceselor de CDG If 618005 E74.8
Glicozilare If
96. Tulburări ale proceselor de CDG In 612015 E74.8
Glicozilare In
97. Tulburări ale proceselor de CDG IIa 212066 E74.8
Glicozilare IIa
98. Tulburări ale proceselor de CDG IIc 266265 E74.8
Glicozilare IIc
Altele
 Imunodeficiențe/immunodeficiencies
99. Febra mediteraneană Mediterranean fever 249100 M04.1
100. Sindrom Wiskot-Aldrich Wiskot-Aldrich Syndrom 301000 D82.0
101. Imunodisregulare
Altele
Maladii endocrine/ endocrine disorders
102. Disfuncția corticosuprarenală Congenital adrenal hyperplasia 201910 E25.0
congenitală
103. Nanism hipofizar Pituitary dwarfism
- Sindrom Noonan - Noonan Syndrome 163950 Q87.19
- Sindrom Prader-Willi - Prader-Willi syndrome 176270 Q87.11
- Sindrom Russel-Sylver
- Sindrom Turner - Russel Silver Syndrome 180860 Q87.19

- Turner Syndrome 309590 Q 96

104. Sindrom McCune-Albright McCune-Albright Syndrom 174800 Q78.1
105. Pubertate precoce Central precocious puberty 176400 E22.8
106. MODY diabet Type 2 diabetes mellitus without E11.9
complications
107. Hiperinsulinism congenital Congenital Hyperinsulinism 601820 E16.1
108. Acromegalia/Gigantism Acromegaly and pituitary 102200 E22.0
gigantism
109. Maladia Cushing Pituitary-dependent Cushing's E24.0
disease
110. Sindromul Nelson Nelson's syndrome 125530 E24.1
111. Maladia Cushing indusa de Drug-induced Cushing's syndrome E24.2
medicamente
112. Sindrom ACTH ectopic Ectopic ACTH syndrome E24.3
113. Maladia pseudo-Cushing Alcohol-induced pseudo- E24.4
indusa de alcool Cushing's syndrome
114. Sindromul Cushing de alta Other Cushing's syndrome E24.8
etiologie
115. Maladia Cushing nespecific Cushing's syndrome, unspecified E24.9
116. Hiperprolactinemie Hyperprolactinemia E22.1

117. Prolactinomul Benign neoplasm of pituitary 102200 D35.2

gland
118. Alte maladii endocrine Other specified endocrine E34.8
disorders

119. Diabet insipid Diabetes insipidus E23.2

120. Insuficiența corticosuprarenală Primary adrenocortical 610489 E27.1
insufficiency
121. Hiperaldosteronism primar Primary hyperaldosteronism 103900 E26.0
122. Feocromacitom Malignant neoplasm of medulla of C74.1
adrenal gland
123. Feocromacitom Malignant neoplasm of aortic C75.5
body and other paraganglia

124. Feocromacitom Benign neoplasm of adrenal gland D35.0

125. Feocromacitom Benign neoplasm of aortic body D35.6
and other paraganglia
126. Hipoparatiroidism Hypoparathyroidism idiopathic E20.0
127. Pseudohipoparatiroidism tip IA Pseudohypoparathyroidism Type 103580 E20.1
IA
128. Pseudohipoparatiroidism tip IB Pseudohypoparathyroidism Type 603233 E20.1
IB
129. Pseudohipoparatiroidism tip IC Pseudohypoparathyroidism type 612462 E20.1
IC
130. Pseudohipoparatiroidism tip II Pseudohypoparathyroidism type II 203330 E20.1
131. Alte tipuri de Other hypoparathyroidism E20.8
hipoparatiroidism
132. Hipoparatiroidism nespecificat Hypoparathyroidism, unspecified E20.9
133. Hipoparatiroidism Postprocedural hypoparathyroidis E89.2
postprocedural m

134. Insulinom Insulinoma-Associated 2 614027 E16.8

135. Sindromul neoplaziei multiple MEN-1 Disease
Altele
Afectări hematologice/Hematological disorders
136. αThalassemia Alpha Thalassemia 604131 D56.0
137. βThalassemia Thalassemia minor 613985 D56.3,
138. Alte talasemii Other thalassemias D56.8
139. Hemoglobinuria nocturna Paroxysmal nocturnal 300818/6153 D59.5
paroxistica (Maladia hemoglobinuria [Marchiafava- 99
Marchiafava Micheli) Micheli, 1/2
140. Anemie aplastică Aplastic anemia 609135 D 60.
141. Anemie aplastică Transient acquired pure red cell 609135 D60.1
aplasia
142. Anemie aplastică Other acquired pure red cell 609135 D60.8
aplasias
143. Boala von Willebrandt von Willebrandt disease 193400 D68.0
144. Hemofilia A Haemophilia A 306700 D66
145. Hemofilia B Haemophilia B 306900 D67
Facomatoze/Phakomatosis
146. Limfangioleiomiomatoza Sporadic 606690 J84.81
sporadică lymphangioleiomyomatosis
147. Biry-Hogg-Dube
148. Neurofibromatoza de tip 1(cu Neurofibromatosis type 1 (with 162200 Q85.01
implicare pulmonară) pulmonary involvement)
149. Forme moștenite de emfizem Inherited forms of emphysema 130700 J43
150. Deficit de antitripsină alfa-1 Deficiency of antitrypsin alpha-1 613490 E88.01
151. Mutații de elastină Mutations of elastin
152. Boala Salla Salla disease 604369
Altele
Boli vasculare pulmonare/Vascular pulmonary diseases
153. Hipertensiune arterială Familial pulmonary arterial 178600 I27.0
pulmonară familială hypertension
154. Boala veno-ocluzivă Veno-occlusive pulmonary disease 265450 K76.5
pulmonară tipI type 1
155. Boala veno-ocluzivă Veno-occlusive pulmonary disease 234810 K76.5
pulmonară tip II type 2
156. Teleangiectazie hemoragică Hereditary hemorrhagic 600376 I78.0
ereditară (cu implicare telangiectasis (with pulmonary
pulmonară) involvement)
Canalopatii/Channelopathy
157. Microlitiază alveolară Pulmonary alveolar microlithiasis 265100 J84.02
pulmonară
Tulburări ciliare/ Ciliary disorders
158. Dischinezia ciliară primară Ciliary dyskinesia primary 244400
Tulburări ale driver-ului respirator/ Respiratory driver disorders
159. Hipoventilația alveolară Central alveolar hypoventilation 209880 G47.35
centrală
160. Narcolepsia 1 Narcolepsy1 161400 G47.41
161. Narcolepsia 2 Narcolepsy 2 605841 G47.41
162. Narcolepsia 3 Narcolepsy 3 609039 G47.41
163. Narcolepsia 4 Narcolepsy 4 612417 G47.41
164. Narcolepsia 5 Narcolepsy 5 612851 G47.41
165. Narcolepsia 6 Narcolepsy 6 614223 G47.41
166. Narcolepsia 7 Narcolepsy 7 614250 G47.41
Tulburările ale matricei țesutului conjunctiv/ Disorders of the connective tissue matrix
167. Sindrom Marfan cu manifestări Marfan syndrome with pulmonary 154700 Q87.43
pulmonare manifestations
168. Sindrom Ehler-Danlos (cu Ehler-Danlos syndrome (with 130000 Q79.6
manifestări pulomonare) pulmonary manifestations)
Sindroame hemoragice alveolare/Alveolar hemorrhagic syndromes

169. Granulomatoza cu poliangeită Granulomatosis with polyangiitis 608710 M31.30

170. Sindromul GOODPASTURE GOODPASTURE Syndrome 233450 M31.0
171. Poliangeită microscopică Microscopic polyangiitis 608710 M31.7
172. Sindromul Churg-Strauss Churg-Strauss Syndrome M30.1
173. Hemosideroză pulmonară Idiopathic pulmonary 178550 J84.03
idiopatică hemosiderosis
174. Endometrioză pulmonară Pulmonary endometriosis
175. Malformație chistică Adenomatous cystic malformation
adenomatoidă
176. Sechestrul pulmonar
177. Hiperplazia celulelor endocrine Hyperplasia of endocrine cells
Boli neuromusculare/neuromuscular disorders
178. Miodistrofia Duchenne Duchenne Myodystrophy 310200 G71.01
179. Amiotrofia spinală Spinal Amyotrophy (SMA) 253300 G12.9
180. Miastenia gravis Myasthenia gravis 254200 G70.00
181. Miastenia gravis cu hiperplazia Myasthenia gravis with thymus 254210 G70.00
timusului hyperplasia
182. Dermatomiozită Dermatomyositis M33.1
183. Polimiozită Polymyositis 160750 M33.22
184. Scleroză laterală amiotrofică Amyotrophic lateral sclerosis type 105400 G12.21
tip 1-25 1-25 205100
614696
612069
608030
611895
616437
606070
602433
608627
614373
617892
602099
617839
615515
614808
617921
616208
300857
615426
613435
613954
185. Sarcoidoza 1, 2, 3 Sarcoidosis, susceptibility to 1, 2, 181000 D86.9
3 612387
612388
186. Histiocitoza Langerhans la Langerhans histiocytosis in adults 604856 J84.82
adult
187. Pneumopatiile interstițiale Idiopathic interstitial J84.111
idiopatice pneumopathies
188. Fibroză pulmonară idiopatică Idiopathic pulmonary fibrosis 178500 J84.112
189. Pneumonită interstițială Decimal Interstitial Pneumonitis
descuamativă (DIP) (DIP)
190. Bronșiolită respiratorie boală Respiratory bronchiolitis J84.115
pulmonară interstițială interstitial pulmonary disease
191. Pneumonită interstițială acută Acute interstitial pneumonitis J84.114
192. Pneumonită interstițială Non-specific interstitial J84.113
nespecifică pneumonitis
193. Pneumonită cu organizare Pneumonitis with cryptogenic J84.116
criptogenă organization
194. Pneumonită interstițială Lymphoid interstitial pneumonia J84.2
limfoidă
195. Fibroelastoza Pleuroparenchymal fibroelastosis
pleuroparenchimatoasă
196. Proteinoză alveolară Alveolar Proteinosis 610910 J84.01
197. Pneumonită de Rare cause of hypersensitivity 145300 J67.9
hipersensibilitate de cauză rară pneumonitis
198. Bronșiolită obliterantă (la Obliterative bronchiolitis (in J42
pacienții fără transplant) patients without transplant)
199. Pneumonitele eozinofilice Eosinophilic pneumonitis J82
200. Traheopatiile idiopatice Idiopathic tracheopathies
201. Angioedemul ereditar tip I Hereditary angioedema type I 106100 D84.1
202. Angioedemul ereditar tip III Hereditary angioedema type III 610618 D84.1
203. Agamaglobulinemie X-linkată Agamaglobulinemia X-linked 300755 D80.0
Boala Bruton Bruton Disease
204. Sindromul Budd-Chiari Budd-Chiari Syndrom 600880 I82.0