Spisak dijagnoza registrovanih u Savezu za rijetke bolesti RS
RB | Dijagnoze |
1 | Achondroplasia Q77.4 |
2 | Anomalia chromosomatica Q 99.9 |
3 | Anomaliea chromosomaticae aliae Q99 |
4 | Bolest sa mokraćom mirisa javorovog sirupa E71 |
5 | Bulozna epidermoliza |
6 | C49.9 Leiomyosarcoma gradus 3 Tm RP / paracavalis |
7 | CHARGE sindrom Q87.8 |
8 | Cistična fibroza E84 |
9 | Craniopharyngeoma C725, Obesitas E66 |
10 | Deficit piruvat dehidrogenaze E744 |
11 | Defitienio proximalis focalis femoris lat dex Q72 |
12 | Dišenova mišićna distrofija G710 |
13 | Dravet sindrom |
14 | Fenilketonurija 70.1 |
15 | G31.8 Mitochondrial encephalomyopathy due to combined oxidative phossphorylation deficiency 6 (COXPD6) Q92.3 1q21.1 microduplication syndrome |
16 | G360 Neuromyelitis optica (Devic) |
17 | Glikogenoza tip 1B E74 |
18 | Glutarna Acidurija Tip 1 E72.3 |
19 | Hemofilija |
20 | Hiperamonijemija E724 |
21 | Hiperfenilalaninemija E701 |
22 | Histiocytosis sellularum Langerhans D760 |
23 | Ichthyosis cong. Q660 |
24 | Insuff.renum chr.St.post cystectomam pp extrophiama v.urinarie. |
25 | Karolijeva bolest |
26 | Konatalni nefrotski sindrom N04 |
27 | Kongenitalna miopatija G71.2 |
28 | Kongenitalna miotonička distrofija G711 |
29 | Kongenitalni centralni hipoventilacioni sindrom |
30 | Lafora bolest |
31 | Lennox Gastaut G40 |
32 | Lymphoedema hereditarium Q82.0 |
33 | Mb Adison |
34 | Meningomyelocelam G82 |
35 | Methaemogloinemija congenita D740 |
36 | miotona distrofija- Steinertova bolest |
37 | Morbi degenerative sistematis nervosi G31 |
38 | Morbus Gaucher tip I |
39 | Morbus Pompe in obs. E74.0 |
40 | Morbus renalis chronicus N18 |
41 | Morbus von Willebrand tip III |
42 | Mucopolisacharidosis tip 1 E 76 |
43 | Mucopolysaccharidosis type 4A |
44 | Mukopolisaharidoza IIIA (Sanfilippo) E762 |
45 | Mukopolisaharidoza non specificata E763 |
46 | Multipla kongenitalna artrogripoza Q743 |
47 | Myeloma multiplex Bence Joness kappa tip IIIA C90.0 |
48 | Myopathia, non specificata G72.9 |
49 | Nail-patella sindrom Q872 |
50 | Nefrokalcinoza R83 |
51 | Nespecifična hromozomopatija (sindrom duplikacije 2q susp.) Q 999 |
52 | Neuromyelitis optica (Devic) G360 |
53 | Neuropatija sa neuromiotonijom G60 |
54 | Pelizeus Merzbaherov sindrom E75.2 |
55 | Perizestanka kloaka Q437 |
56 | Primarna hiperinzulinska hipoglikemija E16.1 |
57 | Progresivna mioklona epilepsija G40 |
58 | Rett sy F84.2 |
59 | Rijetko nasljedno oboljenje sa mentalnom zaostalosti i razvojnim anomalijama (neutvrđena etiologija) |
60 | C pinocerebralna ataksija |
61 | Scleroderma progressivum diffusim M34.0 |
62 | Sclerosis tuberosa |
63 | Sequestratio pulmonis Q33.2 |
64 | Sindrom Alport Q878 |
65 | Sindrom Angelman Q935 |
66 | Sindrom Beckwith-Wiedemann Q87.3 |
67 | Sindrom Cornelia de Lange Q 92.3 |
68 | Sindrom Di George D821 |
69 | Sindrom Edwards Q911 |
70 | Sindrom Noonan Q87.1 |
71 | Sindrom Prader Willi Q87 |
72 | Sindrom Williams Q878 |
73 | Skleroderma M34 |
74 | SMA tip III |
75 | pinalna mišićna, tip 1 |
76 | Still u odraslih. Hemofagocitni sindrom |
77 | Sy Goldendhar |
78 | Sy Sturge-Weber |
79 | Sy Wolf-Hirschorn Q 93.3 |
80 | Syndroma Di George |
81 | Syndroma netherton Q82.8 |
82 | Syndroma Turner |
83 | Syringomyelia et syringobulbia G950 |
84 | Tetralogia Fallot Q21.3 |
85 | Tuberozno sklerozni kompleks. Arterijska hipetenzija (obs renalnog porijekla) |
86 | Wilsonova bolest |
87 | Verheij syndrome |