IL MINISTRO DELLA SANITÀ
VISTO il decreto legislativo 29 aprile 1998, n.124, avente ad oggetto "Ridefinizione del sistema di partecipazione al costo delle prestazioni sanitarie e del regime delle esenzioni, a norma dell'articolo 59, comma 50, della legge 27 dicembre 1997, n. 449", pubblicato nella Gazzetta Ufficiale n. 99 del 30 aprile 1998, e in particolare l'articolo 5, comma 1, lettera b) e comma 5, che prevede che il Ministro della sanità, con distinti regolamenti da emanarsi ai sensi dell'articolo 17, comma 3, della legge 23 agosto 1988, n.400, individui, rispettivamente, le condizioni di malattia croniche o invalidanti e le malattie rare che danno diritto all'esenzione dalla partecipazione per le prestazioni di assistenza sanitaria indicate dai medesimi regolamenti;
VISTO il decreto ministeriale 1 febbraio 1991 avente concerning "Reassessment of these diseases, entitlement to the exemption from health costs" and subsequent amendments and additions; VISTA
the Law of 31 December 1996, no 675 and subsequent amendments and the enactment May 11, 1999, No 135 and July 30, 1999, No 282, concerning the confidentiality of personal data;
CONSIDERING the decree of the President July 28, 1999, No 318, laying down rules for the identification of minimum security measures for the processing of personal data in accordance with Article 15, paragraph 2 of law No. 675 of 1996, as amended;
After consulting the Board of Health at its meeting on 25 November 1998; VISA
the opinion of the Permanent Conference for Relations between State, Regions and Autonomous Provinces of Trento and Bolzano, made at its meeting on May 27, 1999;
GIVEN the opinion of the Guarantor for the protection of personal data, made on October 27, 1999; INCORPORATED
that opinion on the measures to be taken for collection, processing, storage, preservation and security of data and in terms of characteristics and operating procedures of the National Register of Rare Diseases;
the VISA opinion of the Permanent Conference for Relations between State, Regions and Autonomous Provinces of Trento and Bolzano, made at its meeting on 1 February 2001, the amended text as a result of the findings Guarantor for the protection of personal data;
heard the opinion of the State Council, expressed by the advisory section for legal acts in the meeting of March 26, 2001;
VISTA note of communication to the President of the Council of Ministers no 100/SCPS/2153-G/2482 of May 2, 2001, pursuant to art. 17, paragraph 3 of Law August 23, 1988, No 400;
CONSIDERED predict the entry into force of this Regulation as from the date of its publication in the Official Gazette of the Italian Republic, in view of the long and complex process required for its approval
adopted the following rules
Art.1 Aims and scope
1. The presente regolamento disciplina le modalità di esenzione dalla partecipazione al costo delle malattie rare per le correlate prestazioni di assistenza sanitaria incluse nei livelli essenziali di assistenza, in attuazione dell'articolo 5 del decreto legislativo 29 aprile 1998, n.124 , e individua specifiche forme di tutela per i soggetti affetti dalle suddette malattie.
Art. 2 Rete nazionale per la prevenzione, la sorveglianza, la diagnosi e la terapia delle malattie rare
1. Al fine di assicurare specifiche forme di tutela ai soggetti affetti da malattie rare è istituita la Rete nazionale per la prevenzione, la sorveglianza, la diagnosi e la terapia delle malattie rare. The network consists of principals credited the designated regions. Under these safeguards, preferably hospital by the Minister of Health on a proposal from the region concerned, in consultation with the Permanent Conference for relations between the state, regions and autonomous provinces of Trento and Bolzano on the basis of criteria for identifying and updating were conducted with the same conference, identifying the inter-regional Centres of Reference for rare diseases. The regions shall identify the principals and the formulation of proposals, for the first time, respectively, within forty-five to sixty days from the date of entry into force of this Regulation. In the next ninety days, the Minister of Health of the Centers shall identify interregional riferimento.2. Principals of the network are identified from among those in possession of documented experience in diagnostic or therapeutic activity for specific diseases or groups of rare diseases, as well as provision of appropriate support structures and complementary services, including, for diseases that require, for the emergency services and diagnostic biochemical and genetic - molecolare.3. The centers provide inter-related, each to the territorial area of \u200b\u200bcompetence, the performance of the following functions: a) the management of inter-registry of rare diseases, with matching records and the local National Register referred to in Article 3, b) the exchange of information and documentation on rare diseases with other centers and inter relevant international bodies; c) the coordination of principals of the Network in order to ensure early diagnosis and the ' appropriate therapy, if any, through the adoption of specific protocols agreed d) advice and support to the National Health Service doctors in order to rare diseases and the availability of appropriate drugs for their treatment, e) collaboration with training of health professionals and voluntary initiatives and preventive f) information to citizens and associations of patients and their families in order rare diseases and the availability of farmaci.4. The tools included in the network operate according to clinical protocols agreed with the centers of inter-related and work with local services and family doctors to the detection and management of trattamento.5. The Minister of Health to ensure the dissemination of the national list of medical devices in the network and report on its activities in the Report on the health status of the country referred to in Article 1, paragraph 6 of Legislative Decree No 30 December 1992 502, as amended. Article 3
National Register
1. In order to allow national and regional programs of action to alla tutela dei soggetti affetti da malattie rare e di attuare la sorveglianza delle stesse è istituito presso l'Istituto Superiore di Sanità il Registro nazionale delle malattie rare.2. Il Registro raccoglie dati anagrafici, anamnestici, clinici, strumentali, laboratoristici e relativi ai fattori di rischio e agli stili di vita dei soggetti affetti da malattie rare, a fini di studio e di ricerca scientifica in campo epidemiologico, medico e biomedico.3. Il Registro nazionale è funzionalmente collegato con i registri interregionali e territoriali e, ove esistenti, con i registri internazionali.4. La raccolta dei dati e il loro trattamento, consistente nelle operazioni di validazione, analisi statistico-epidemiologica, valutazione delle associazioni tra risk factors and lifestyle-related etiology and prognosis, updating, integration and eventual cancellation, shall be made in accordance with the existing legislation on data protection personali.5. The access and processing of data is permitted in accordance with applicable regulations regarding the protection of personal data and the adoption of security measures in the decree of the President July 28, 1999, No 318. Data access is also permitted operators of the centers of reference specifically authorized for the purposes of article 2, paragraph 3.6. The health data are stored in paper files and computer separately from any other personal data are processed and con tecniche di cifratura o codici identificativi che consentano di identificare gli interessati solo in caso di necessità.7. La comunicazione e la diffusione dei dati del Registro nazionale è consentita per le finalità e nei limiti di cui all'art. 21, comma 4, lettera a), della legge 31 dicembre 1996 n. 675, e successive modificazioni.8. Il trasferimento all'estero dei dati del Registro nazionale è consentito ai sensi dell' art. 28, comma 4, lettera g-bis, della legge 31 dicembre 1996 n. 675 e successive modificazioni e integrazioni.9. Le disposizioni del presente articolo si applicano anche ai registri interregionali tenuti dai Centri di riferimento di cui all'articolo 2, comma 3.
Art. 4 Individuazione
a rare disease. Annex 1, which forms an integral part of this Regulation, a list of diseases and groups of rare diseases for which it is entitled to exemption from participation in the cost of the related health care benefits and a statement the most frequently used synonyms diagnosed illnesses. To allow the unique identification of rare diseases for the purposes of the exemption, each disease or group of diseases is associated with a specific identification code. Article 5
Diagnosis of the disease and recognition of the right of exemption
1. The medium for which it was formulated by a medical specialist in the Health Service the national suspected diagnosis of a rare disease listed in Annex 1 is directed by the same physician, according to the information center of the appropriate inter-reference to the principals of the network can guarantee the detection of specific disease or group of malattie.2 . Principals ensure the delivery of the Network pursuant to an exemption from participation in the cost of benefits for the diagnosis and, if necessary for the diagnosis of rare hereditary disease, the genetic testing on family members assisted. The related charges are the sole responsibility of the local health unit of residence of the assisted .3. Principals Network report any new case of rare disease known at the center reference jurisdiction, as stipulated in special technical specifications prepared by the Superior Sanità.4. The medium that has been established by a garrison of the network a rare disease listed in Annex 1 may apply for recognition of exemption law firm local public health unit of residence, attaching a certificate issued by the garrison stesso.5. At the time of issuance of the certificate of exemption, the company provides to the interested local health information in accordance with Articles 10 and 23 of Law No 31 December 1996 675, as amended, and acquires the written consent to the processing of data by providers of services, public agreement or accredited by the National Health Service, with regard to prescribing and dispensing of medical services under the esenzione.6. The collection and processing of data, consisting of the registration operations, validation, updating, integration and eventual cancellation, shall be made in accordance with the existing legislation on data protection personali.7. Access and data processing companies are allowed to the operators of local health units authorized for that purpose, in accordance with applicable regulations regarding the protection of personal data and the adoption of security measures in the decree of the President of the Republic 28 July 1999, no 318, for the recognition of the right exemption and the control of the exemptions granted, for administrative-accounting for the control of its expenditure from the national health service and the quality and appropriateness of care erogata.8. The health data are stored in paper files and computer separately from all other personal and are treated with encryption techniques or identification codes that allow identifying data subjects only if necessità.9. The communication and dissemination of information referred to in this Article shall be subject to the provisions of Art. 27 of Law No 31 December 1996 675, as amended. Article 6
delivery mechanisms delle prestazioni
1. L'assistito riconosciuto esente ha diritto alle prestazioni di assistenza sanitaria, prescritte con le modalità previste dalla normativa vigente, incluse nei livelli essenziali di assistenza, efficaci ed appropriate per il trattamento ed il monitoraggio della malattia dalla quale è affetto e per la prevenzione degli ulteriori aggravamenti.2. Gli assistiti esenti dalla partecipazione al costo ai sensi del presente regolamento e ai sensi del decreto ministeriale 28 maggio 1999, n. 329, sono altresì esentati dalla partecipazione al costo delle prestazioni necessarie per l'inclusione nelle liste di attesa per trapianto.3. Ferme restando le competenze della Commissione unica del farmaco di cui all'articolo 7 del decreto legislativo 30 June 1993 No 266, as amended, the regions, based on the needs of its population, establish procedures for the acquisition and distribution to interested parties of certain drugs, including the direct provision of pharmaceutical services by the public. Article 7
prescribing performance
1. The limitation of health benefits payable pursuant to an exemption from participation in the cost under this regulation, shall be designated, only in coded form in accordance with Article 4 of the rare disease for which he is entitled to exemption. 2. Except to the extent of prescribing under the current regulations, ciascuna ricetta non può contestualmente recare la prescrizione di prestazioni erogabili in regime di esenzione dalla partecipazione al costo e di altre prestazioni.3. La prescrizione delle prestazioni erogabili in esenzione dalla partecipazione al costo è effettuata secondo criteri di efficacia e di appropriatezza rispetto alle condizioni cliniche individuali, con riferimento ai protocolli, ove esistenti, definiti dai Centri di riferimento e in collaborazione con i presidi della Rete.
Art. 8 Aggiornamento
1. I contenuti del presente regolamento sono aggiornati, con cadenza almeno triennale, con riferimento all'evoluzione delle conoscenze scientifiche e tecnologiche, ai dati epidemiologici relativi alle malattie rare and development of diagnostic and therapeutic referred to in Article 1, paragraph 28 of the Law of 23 December 1996 662, as amended and supplemented. Article 9
and Provisional Rules
1. From the entry into force of this regulation subjects recognized exempt under Ministerial Decree of 28 May 1999, no 329 , with: Budd-Chiari syndrome, hereditary anemia, mixed connective tissue, primary immunodeficiencies, with Lennox-Gastaut syndrome, congenital disorders of lipoprotein metabolism (except: heterozygous familial hypercholesterolemia type IIa and IIb primary hypercholesterolaemia polygenic, Hypercholesterolemia family combined hyperlipoproteinemia type III), hereditary coagulation defects, Huntington's Disease, Polyarteritis nodosa, included in Annex 1 to this Regulation, are entitled to exemption from participation in the cost of benefits provided for in Article 6 of this Regulation .2. Annex 1 to Ministerial Decree of 28 May 1999, no 329 , is amended as set out in Annex 2, which form an integral part of this regolamento.3. From the entry into force of this Regulation who are already exempt under the Ministerial Decree of February 1, 1991, published in the Official Gazette of February 7, 1991, as amended and supplemented, for hereditary angioedema, dermatomyositis, pemphigus and pemphigoid, congenital anemia, and inborn errors of metabolism, phenylketonuria, congenital myopathies, Hansen's disease, Turner syndrome, and spasticity from cerebrovascular Retinitis pigmentosa, are entitled to exemption from participation in the cost of benefits under Article 6 of this regolamento.4. Companies local health units, notwithstanding the provisions of Article 5, adjust the claims of exemption relating to the diseases referred to in paragraphs 1 and 3 as provided for in this Regulation for diseases corrispondenti.5. From the entry into force of this Regulation shall cease to have effect to the provisions of Articles 1, 2, 3 and 4 decreto ministeriale 1° febbraio 1991, pubblicato sulla Gazzetta Ufficiale del 7 febbraio 1991, e successive modifiche e integrazioni.6. Le aziende unità sanitarie locali provvedono a comunicare ai medici di medicina generale ed ai pediatri di libera scelta i contenuti del presente regolamento e le specifiche modalità di applicazione.7. Le disposizioni del presente regolamento saranno adeguate sulla base della disciplina da emanarsi ai sensi dell'articolo 6 del decreto legislativo 29 aprile 1998, n. 124, ove venga meno la sospensione dell'efficacia fissata dall'articolo 84 della legge 23 dicembre 2000, n. 388, nonché della disciplina da emanarsi ai sensi dell'articolo 23 della legge 31 dicembre 1996, n. 675, come modificata dal decreto legislativo 30 luglio 1999, n. 282.8. Il presente regolamento entra in vigore a decorrere dalla data di pubblicazione nella Gazzetta Ufficiale della Repubblica Italiana.
Il presente regolamento, munito del sigillo dello Stato, sarà inserito nella Raccolta ufficiale degli atti normativi della Repubblica Italiana. E' fatto obbligo a chiunque spetti di osservarlo e di farlo osservare.
Elenco alfabetico delle malattie incluse nei gruppi
Definizione malattia e/o gruppo (comprende i sinonimi)
Codice Esenzione
AARSKOG SINDROME DI
RN0790
AASE-SMITH SINDROME DI
RN1340
ACALASIA
RI0010
ACERULOPLASMINEMIA CONGENITA
RC0120
ACROCEFALOSINDATTILIA
RNG030
ACRODERMATITE ENTEROPATICA
RC0070
Acrodysostosis
RN0280
ADAMS-OLIVER SYNDROME
RN0340
ADIPOSE PAINFUL
RC0090 RF0120
adrenoleukodystrophy
Agenesis CEREBELLAR
RN0030 RN1350
Alagille Syndrome Alpers Disease
RF0010
Alport Syndrome Alström Syndrome
RN1360
RN1370
congenital OF IRON METABOLISM
RCG100
congenital abnormalities of lipoprotein metabolism included: heterozygous familial hypercholesterolemia type IIa and IIb primary polygenic hypercholesterolemia, familial combined hypercholesterolemia, hyperlipoproteinemia type III.
RCG070
OTHER MULTIPLE CONGENITAL ANOMALIES WITH MENTAL RETARDATION
RNG100
PRIMARY AMYLOIDOSIS AND FAMILY
RCG130
ANEMIAS HEREDITARY
RDG010
Angelman Syndrome
RN1300
ANGIOEDEMA CROWN RC0190
aniridia
RN0110 RN0190
imperforate anus
CONGENITAL ANOMALIES OF SKULL AND / OR BONE FACE
RNG040
Antley -Bixler Syndrome
RN0800 RN0640 aplasia cutis congenita
INFANTILE APNEA
RP0050
Arnold-Chiari Syndrome
RN0010
giant cell arteritis
RG0080
arthrogryposis multiplex congenita
RNG020
asplenia with cardiovascular anomalies
RN0740
ATRANSFERRINEMIA CONGENITAL
RC0130
biliary atresia
RN0210 Atresia FASTING
RN0170
esophageal atresia and / or fistula Tracheoesophageal atresia or stenosis
RN0160 RN0180 DUODENAL
ATROPHY TOOTHED RUBROPALLIDOLUYSIANA
RF0050
hemifacial ATROPHY PROGRESSIVE ESSENTIAL ATROPHY OF THE IRIS
RN0650
RF0240 RF0300 Leber optic atrophy
spinal muscular atrophies
RFG050
Axenfeld-Rieger FAULT
RN0090
Baller-Gerold Syndrome
RN0810
Bardet-Biedl Syndrome
RN1380
BECKWITH-WIEDEMANN SYNDROME
RN0820
Behcet Disease
RC0210
BEHR SYNDROME
RF0220
Bloch-Sulzberger DISEASE
RN1480 RN0830
BLOOM SYNDROME
BLUE RUBBER BLEB NEVUS
RN0150
BORJESON SINDROME DI
RN0840
BUDD-CHIARI SINDROME DI
RG0110
CAMPTODATTILIA FAMILIARE
RN0290
CARENZA CONGENITA DI ALFA1 ANTITRIPSINA
RC0200
CAROLI MALATTIA DI
RN0220
CARPENTER SINDROME DI
RN1390
CEROIDO-LIPOFUSCINOSI
RFG020
CHARGE ASSOCIAZIONE
RN0850
CHAVANY-MARIE SINDROME DI
RN0070
CHEDIAK-HIGASHI MALATTIA DI
RD0060
CHERATITE-ITTIOSI-SORDITA'
RN1500
CHERATOCONO
RF0280
CHERATOSI FOLLICOLARE ACUMINATA
RN0530
CHIRAY FOIX SINDROME DI
RN0070
CHURG-STRAUSS SINDROME DI
RG0050
CICLITE ETEROCROMICA DI FUCH
RF0230
Interstitial Cystitis
RJ0030
COATS DISEASE
RF0200
COCKAYNE SYNDROME
RN1400
COFFIN-LOWRY SYNDROME Coffin-Siris
RN0350
RN0360
COGAN SYNDROME SYNDROME
RF0270
cholangitis PRIMITIVE SCLEROSING
RI0050
Coloboma CONGENITAL OPTICAL DISC
RN0120
chondrodystrophy CONGENITAL
RNG050
ligneous conjunctivitis
RF0290 RM0030
mixed connective undifferentiated
RMG010
Huntington
RF0080
CORNELIA DE LANGE SYNDROME
RN1410
craniosynostosis - midfacial hypoplasia - foot anomalies
RN0400 CRI DU CHAT DISEASE
RN0670
Crigler-Najjar Syndrome
mixed cryoglobulinemia
RC0180 RC0110
CRISWICK-SCHEPENS SYNDROME
RF0200
Cronkhite-Canada Disease
RB0030
Telangiectases CONGENITAL SKIN MARBLE
cutis laxa
RN0540 RN0500 RN0550
Darier Disease
DE Morsier SYNDROME
RN0860
De Sanctis Cacchione DISEASE
RN1420
CONGENITAL DEFICIENCY OF ZINC
ACTH deficiency
RC0070 RC0010 RC0100
ceramidase deficiency
deformations' Sprengel
RN0270
DEGENERATION hepatocerebral
RC0150
LENTICULAR DEGENERATION OR FAMILY PUTAMINALE
RC0150
DEGENERATION OF THE CORNEA
RFG130
Denys-Drash Syndrome
RN1430
DERCUM DISEASE
RC0090
dermatitis herpetiformis Dermatomyositis
RL0020 RM0010
nephrogenic diabetes insipidus
RJ0010
DEFECTS HEREDITARY COAGULATION
RDG020
familial dysautonomia
RN0080 RN0560
dyskeratosis congenita
DISFAGOCITOSI CHRONIC
RD0050
Metabolism of purine and pyrimidine
RCG120
dysplasia oculo-DIGITO-DENTAL DYSPLASIA
RN1440 RN0860
septo-optic dysplasia spondyloepiphyseal dysplasia
spondylocostal
RN0410 RN1450
dystonia
CONGENITAL IDIOPATHIC TORSION
RF0090
DYSTROPHIES HEREDITARY CORNEAL
RFG140
DYSTROPHIES HEREDITARY choroidal
RFG120
DYSTROPHIES MYOTONIC
RFG090
muscular dystrophies
RFG080
Hereditary retinal dystrophies
RFG110
DISORDERS lipid storage
RCG080
urea cycle disorders
RCG050
DISORDERS OF METABOLISM AND THE amino acid transport
RCG040
DISORDERS OF THE METABOLISM AND TRANSPORT OF CARBOHYDRATES Excluded: diabetes mellitus
RCG060
DONHOUE SYNDROME DOWN SYNDROME
RC0050
RN0660 RN0870
Dubowitz Syndrome
Dyggve-Melchior-Clausen (DMC) SYNDROME
RN0370
Eales Disease
RF0210
EATON-LAMBERT SYNDROME
RF0190
ECTRODATTILIA - DISPLASIA ECTODERMICA - PALATOSCHISI
RN0880
EDEMA ANGIONEUROTICO EREDITARIO
RC0190
EEC SINDROME
RN0880
EHLERS-DANLOS SINDROME DI
RN0330
EMBRIOFETOPATIA RUBEOLICA
RP0010
EMERALOPIA CONGENITA
RF0250
EMOGLOBINURIA PAROSSISTICA NOTTURNA
RD0020
ENDOCARDITE REUMATICA
RG0010
EPIDERMOLISI BOLLOSA
RN0570
EPILESSIA MIOCLONICA E FIBRE ROSSE IRREGOLARI
RN0720
EPILESSIA MIOCLONICA PROGRESSIVA
RF0060
ERITROCHERATODERMIA SIMMETRICA PROGRESSIVA
RN0580
ERITROCHERATODERMIA VARIABILE
RN0590
ERITROCHERATOLISI HIEMALIS
RL0010
ERITRODERMA ITTIOSIFORME CONGENITO True Hermaphroditism
Bullosa
RN0600 RN0240
phacomatosis
RN0750
FARBER DISEASE
RC0100
fasciitis eosinophilic fasciitis
RM0050 RM0040
congenital hepatic fibrosis
RP0070
fibrosis
RJ0020
FILIPPI SYNDROME
Phocomelia
RN0380 RN0260
FOSFOETILAMINURIA
RC0160
FRASER SYNDROME
RN1460
FREEMAN-SHELDON SYNDROME SYNDROME Fryns
RN0890 RN0900
Ganglioside
RFG030
GARDNER'S SYNDROME
GIANT HYPERTROPHIC GASTRITIS RB0040
RI0020 RI0030
eosinophilic gastroenteritis
gastroschisis
RN0320
GERSTMANN SYNDROME SYNDROME
RQ0010
GOLDENHAR
RN0910
Goodpasture Syndrome Wegener's granulomatosis
RG0060 RG0070
GREIG'S SYNDROME, cephalopolysyndactyly
RN0390
HANSEN'S DISEASE
RA0010
HAY-WELLS SYNDROME
RN1470
Hermansky-Pudlak Syndrome Hirschsprung Disease
RN0920 RN0200
HOLT-ORAM SYNDROME
RN0930
HORTON'S DISEASE
RG0080
IDIOCY xeroderma
RN1420
PRIMARY IMMUNODEFICIENCY
RCG160
Incontinentia pigmenti
RN0510
primary aldosteronism
RCG010
epidermolytic hyperkeratosis
RN0600
hypophosphatasia
RC0160
Hypogonadism CON ANOSMIA
RC0020
IPOMELANOSI DI ITO
RN1480
IPOPLASIA FOCALE DERMICA
RN0610
ISAACS SINDROME DI
RN1490
ISTIOCITOSI CRONICHE
RCG150
ITTIOSI CONGENITE
RNG070
IVEMARK SINDROME DI
RN0740
JACKSON-WEISS SINDROME DI
RN0400
JARCHO-LEVIN SINDROME DI
RN0410
JOUBERT SINDROME DI
RN0040
KABUKI SINDROME DELLA MASCHERA
RN0940
KALLMANN SINDROME DI
RC0020
KARTAGENER SINDROME DI
RN0950
KAWASAKI SINDROME DI
RG0040
KEARNS-SAYRE SINDROME DI
RF0020
KERNITTERO
RP0060
KID SINDROME
RN1500
KLINEFELTER SINDROME DI
RN0690
KLIPPEL-FEIL SYNDROME
RN0310
Klippel-Trenaunay Syndrome
RN1510
Landau-Kleffner Syndrome
RN1520
LAWRENCE-MOON SYNDROME
RN1380
LEIGH DISEASE
LENNOX RF0030 RF0130
Gastaut Syndrome LEOPARD SYNDROME
RN1530
leprechaunism
RC0050
LEUKODYSTROPHY
RFG010
HOLLISTER-LEVY SYNDROME
RN1540
LICHEN sclerosus ET ATROPHICUS
RL0060
intestinal lymphangiectasia
RI0080
LINFOANGIOLEIOMATOSI PULMONARY
RB0060 RB0060
LINFOANGIOLEIOMIOMATOSI
Lipodystrophy Lipodystrophy
TOTAL INTESTINAL
RA0020 RC0080
Lissencephaly
RN0050
LYME DISEASE OF
RA0030
MAFFUCCI SINDROME DI
RN0960
MALATTIA DA INCLUSIONE DEI MICROVILLI
RI0070
MALATTIA DEL FEGATO POLICISTICO
RN0230
MALATTIA GRANULOMATOSA CRONICA
RD0050
MALATTIE SPINOCEREBELLARI
RFG040
MARCHIAFAVA-MICHELI SINDROME DI
RD0020
MARFAN SINDROME DI
RN1320
MARSHALL SINDROME DI
RN0970
MARSHALL-SMITH SINDROME DI
RN1550
MECKEL SINDROME DI
RN0980
MELAS SINDROME
RN0710
MELKERSSON-ROSENTHAL SINDROME DI
RF0160
MERRF SINDROME
RN0720
MICROANGIOPATIE TROMBOTICHE
RGG010
MICROCEFALIA
RN0020
MIOCLONO ESSENZIALE EREDITARIO
RF0070
MIOPATIA MITOCONDRIALE - ENCEPHALOPATHY - Lactic acid - STROKE
RN0710
MYOPATHY CONGENITAL HEREDITARY
RFG070
MOEBIUS SYNDROME MORNING GLORY
RN0990 RN0130 FAULT
MUCOLIPIDOSI
RCG090
MUCOPOLYSACCHARIDOSES
RCG140
Nager Syndrome
RN1000
narcolepsy
RF0150
nephroblastoma
RB0010 NEU-
Laxova SYNDROME
RN1560 RN1570
neuroacanthocytosis
neurofibromatosis
RBG010
hereditary optic neuropathy
RF0300
HEREDITARY NEUROPATHY
RFG060
cyclic neutropenia
RD0040
NOONAN SYNDROME
Norra RN1010 RN1580
Oguchi
DISEASE SYNDROME
RF0260
holoprosencephaly
RN0060
ONICOOSTEODISPLASIA EREDITARIA
RN1190
OPITZ SINDROME DI
RN1020
OSTEODISTROFIE CONGENITE
RNG060
PACHIDERMOPERIOSTOSI
RN0620
PALLISTER- HALL SINDROME DI
RN1030
PALLISTER-KILLIAN SINDROME DI
RN1590
PALLISTER-W SINDROME DI
RN0420
PARALISI NORMOKALIEMICHE, IPO E IPERKALIEMICHE
RFG100
PARALISI SOPRANUCLEARE PROGRESSIVA
RF0170
PARRY-ROMBERG SINDROME DI
RN0650
PEARSON SINDROME DI
RN1600
PEMFIGO
RL0030
PEMFIGOIDE BENIGNO DELLE MUCOSE
RL0050
PEMFIGOIDE BOLLOSO
RL0040
PENA-SHOKEIR I SINDROME DI
RN1110
PENA-SHOKEIR II SINDROME DI
RN1640
PERSISTENZA DELLA MEMBRANA PUPILLARE
RN0140
PETER ANOMALIA DI
RN0100
PEUTZ-JEGHERS SINDROME DI
RN0760
PFEIFFER SINDROME DI
RN1040
PIASTRINOPATIE EREDITARIE
RDG030
POEMS SINDROME
RN1610
POLAND SINDROME DI
RN0430
POLIANGIOITE MICROSCOPICA
RG0020
POLIARTERITE MICROSCOPICA
RG0020
POLIARTERITE NODOSA
RG0030
POLICONDRITE
RM0060
POLIENDOCRINOPATIE AUTOIMMUNI
RCG030
POLIMIOSITE
RM0020
POLINEUROPATIA CRONICA INFIAMMATORIA DEMIELINIZZANTE
RF0180
POLIPOSI FAMILIARE
RB0050
PORFIRIE
RCG110
PORPORA DI HENOCH-SCHONLEIN RICORRENTE
RD0030
Prader-Willi Syndrome
RN1310
pseudohermaphroditism
RNG010
pseudoxanthoma elasticum
RN0630
PUBERTY 'EARLY IDIOPATHIC
RC0040
hypophosphatemic rickets vitamin D-resistant
RC0170 RC0030
Reifenstein Syndrome Rendu-Osler-Weber
RG0100
KIDNEY DISEASE medullary sponge
RN0250
retinoblastoma
RB0020
RETT SYNDROME
RF0040
RIEGER SYNDROME
RN1050
RILEY-DAY SYNDROME
ROBERTS SYNDROME
RN0080 RN1060 RN1070
Robinow Syndrome Rubinstein-Taybi Syndrome
RN1620 RUSSELL-SILVER SYNDROME
RN1080
Schilder Disease
RF0120
Schinzel-Giedion Syndrome
RN1090
AMYOTROPHIC LATERAL SCLEROSIS PRIMARY LATERAL SCLEROSIS
RF0100 RF0110
SCLEROSIS TUBEROSA
RN0750 RN1100
Seckel Syndrome
SEQUENCE OF FETAL hypokinesia
SEQUENCE sirenomelia
RN1110 RN0440 RN0730
SHORT SYNDROME Simpson-Golabi-Behmel Syndrome
RN1120 RN1630
Acrocallosal
SYNDROME FETAL ALCOHOL SYNDROME SYNDROME FLOCKS
RP0040-oculo-Facial Syndrome FLOCKS
RN1130-RN1140
Oto-Renal Syndrome Cardio-Facio-Cutaneous
RN1150
BRAIN SYNDROME -COST-MANDIBULAR SYNDROME
RN0450
Cerebro-oculo-facio-skeletal
RN1640
insensitivity syndrome 'Partial Androgen
RC0030
SYNDROME intestinal pseudo-obstruction
RI0040
caudal regression syndrome
RN0300 RN1330
FRAGILE X SYNDROME
nevus syndrome Dysplastic
RN1650 RN1660
Epidermal nevus syndrome
SYNDROME RED NUCLEUS OF HIGHER
RN0070
hemolytic uremic syndrome
RD0010
femoral FACIAL SYNDROME
RN0460
Foetal VPA
RP0020 RP0030 fetal hydantoin syndrome
SYNDROME tears-headset-Dent-DIGITAL SYNDROME OCULO
RN1540-BRAIN
RN1160-SKIN SYNDROME
OTO-PALATE-DIGITAL SYNDROME
RN0470 PROTEO
RN1170
SINDROME PTERIGIO MULTIPLO
RN1670
SINDROME TRICO-DENTO-OSSEA
RN1680
SINDROME TRICO-RINO-FALANGEA
RN1180
SINDROME TRISMA PSEUDOCAMPTODATTILIA
RN0480
SINDROME TROMBOCITOPENICA CON ASSENZA DI RADIO
RN1690
SINDROME UNGHIA-ROTULA
RN1190
SINDROMI ADRENOGENITALI CONGENITE
RCG020
SINDROMI DA ANEUPLOIDIA CROMOSOMICA
RNG080
SINDROMI DA DUPLICAZIONE/DEFICIENZA CROMOSOMICA
RNG090
SJÖGREN-LARSSON SINDROME DI
RN1700
SMITH-LEMLI-OPITZ, TIPO 1 SINDROME DI
RN1200
SMITH-MAGENIS SINDROME DI
RN1210
SPRUE CELIACA
RI0060
STEELE-RICHARDSON-OLSZEWSKI SINDROME DI
RF0170
RN1220
Stickler Syndrome Sturge-Weber Syndrome
SUMMIT RN0770 RN1230
TAKAYASU
SYNDROME DISEASE
RG0090
TAY SYNDROME
RN1710
Telangiectases HEREDITARY HEMORRHAGIC
RG0100
TOURAINE-salento-GROOVES 'SYNDROME
RN0620 Townes-Brocks Syndrome
RN1240
PRIMARY HEREDITARY THROMBOCYTOPENIA
RDG040
Wilms tumor - aniridia - disorders GENITO - MENTAL RETARDATION
RN1730
Wilms' tumor and pseudohermaphroditism
TURNER SYNDROME
RN1430 RN0680 RN1250
VACTERL ASSOCIATION
vitreoretinopathy EXUDATIVE FAMILY
RF0200
Vogt-Koyanagi-Harada Syndrome
RN1720
von Hippel-Lindau Syndrome WAGR SYNDROME
RN0780 RN1730
WALDMANN DISEASE
RC0140
WALKER-WARBURG SYNDROME
RN1740 RN0490
WEAVER SYNDROME
MARCHESANI-WEILL SYNDROME
RN1750
WERNER SYNDROME
RC0060
WEST SYNDROME
RF0140
Whipple Disease
RA0020
WILDERVANCK SYNDROME WILLIAMS SYNDROME
RN1260 RN1270
WILMS TUMOR WILSON'S DISEASE
RB0010 RC0150
WINCHESTER SYNDROME
RN1280
Wolf-Hirschhorn Syndrome
RN0700
WOLFRAM SYNDROME
RN1290 RN0520
xeroderma pigmentosum
ZELLWEGER SYNDROME
RN1760
Alphabetical list of rare diseases, including disease-free
Definition Code Exemption
Synonym
abetalipoproteinemia
RCG070
Bassen KORNZWEIG ORGANIC SYNDROME
acidemia and lactic acid PRIMITIVE
RCG040
achondrogenesis
RNG050
ACHONDROPLASIA
RNG050
agammaglobulinemia
RCG160
ALANINEMIA
RCG040
ALBINI
RCG040
alkaptonuria
RCG040
ALEXANDER DISEASE
RFG010
Leber congenital amaurosis
RFG110
sickle cell disease
RDG010
sideroblastic anemia
RDG010
OPEN
SYNDROME
RNG030
HEREDITARY CEREBELLAR ATAXIA OF MARIE
RFG040
CEREBELLAR DEGENERATION OF MARIE
FA
RFG040
-LIKE ATAXIA Friedreich
RFG040
FAMILIAL DEFICIENCY OF VITAMIN E
RFG040
PERIODIC ATAXIA ATAXIA ATAXIA VESTIBULOCEREBELLARE
telangiectases
RFG040
LOUIS BAR SYNDROME
Bartter Syndrome
RCG010
BATTEN DISEASE
RFG020
BECKER DYSTROPHY OF
RFG080
BERNARD SOULIER SYNDROME
RDG030
Blackfan-Diamond anemia
RDG010
ANEMIA CONGENITAL hypoplastic
C SYNDROME
RNG040
CANAVAN DISEASE
RFG010
Charcot Marie Tooth Disease
RFG060
peroneal muscular atrophy
CYSTINE
RCG040
CITRULLINEMIA
RCG050
COGAN DYSTROPHY OF CORNEAL DYSTROPHY
RFG140
FRONT COMPLEX
THROMBOCYTOPENIC thrombotic-hemolytic uremic syndrome
RGG010
CONN SYNDROME
RCG010
Conradi-Hunermann SYNDROME
RNG060
cornea guttata
RFG140
craniosynostosis PRIMARY
RNG040
Crouzon Disease
RNG040
congenital deficiency of coagulation factors
RDG020
DEFICIT OF LECITINCOLESTEROLOACILTRANSFERASI
RCG070
DEFICIENCY FAMILY lipoprotein lipase
RCG070
SUBACUTE CEREBELLAR DEGENERATION
RFG040
RFG130
Terrien marginal degeneration
DEGENERATION SYNDROME NODULE NODULES OF DEGENERATION
RFG130
SALZMANN
CORTICAL CEREBELLAR DEGENERATION medullary
RFG040
spinocerebellar degeneration HOLMES
RFG040
cerebellar atrophy OLIVAR
Dejerine SOTTAS DISEASE
RFG060
hereditary peripheral neuropathies TYPE OF GEORGE III
SYNDROME
RCG160
DISCONDROSTEOSI
RNG060
hereditary thrombophilia
RDG020
Maxillofacial dysostosis
RNG040
DYSPLASIA CRANIOMETAFISARIA
RNG060
OSTEOCONDROPLASIA
diastrophic dysplasia and PSEUDODIASTROFICA
RNG060
epiphyseal dysplasia hemimelia
RNG050
FIBROUS DYSPLASIA DYSPLASIA
RNG060
FRONT-facio-nasal dysplasia
RNG040
MAXILLONASALE
RNG040
spondyloepiphyseal dysplasia LATE
RNG060
Myoclonic Hunt dyssynergia CEREBELLAR ATROPHY
RFG040
SPINODENTATA
COMBINED CORNEAL DYSTROPHY
RFG140
ENDOTHELIAL CORNEAL DYSTROPHY REAR POLYMORPHISMS
RFG140
GRANULAR CORNEAL DYSTROPHY
RFG140
corneal dystrophy GROENOUW TIPO I; DISTROFIA CORNEALE PUNCTATA O NODULARE DI REIS-BUCKLER
DISTROFIA CORNEALE MACULARE
RFG140
DISTROFIA CORNEALE DI GROENOUW TIPO II
DISTROFIA CORNEALE RETICOLARE
RFG140
DISTROFIA LATTICE; AMILOIDOSI CORNEALE
DISTROFIA DEI CONI
RFG110
DISTROFIA IALINA DELLA RETINA
RFG110
GOLMAN-FAVRE MALATTIA DI
DISTROFIA MUSCOLARE OCULO-GASTRO-INTESTINALE
RFG080
DISTROFIA TORACICA ASFISSIANTE
RNG050
DISTROFIA VITELLIFORME DI BEST
RFG110
FUNDUS FLAVIMACULATUS
DISTROFIA VITREO RETINICA
RFG110
RETINOSCHISI GIOVANILE
DISTROFIE STROMALI DELLA CORNEA
RFG140
DISTURBI DEL METABOLISMO INTERMEDIATE OF FATTY ACIDS AND MITOCHONDRIA
RCG070
Duchenne dystrophy
RFG080
ELLIS-Van Creveld Syndrome
RNG060
hereditary hemochromatosis hemochromatosis
RCG100
FAMILY
haemophilia A haemophilia B
RDG020
RDG020
Engelmann Disease OF
RNG060
ERB dystrophy
RFG080
multiple exostoses
RNG050
FABRY DISEASE
RCG080
Fairbank Disease
RNG060
multiple epiphyseal dysplasia
Fanconi anemia Fanconi Pancytopenia
RDG010
favism
RDG010
FRUTTOSEMIA
RCG060
FUCHS ENDOTHELIAL DYSTROPHY OF
RFG140
galactosemia
RCG060
Gaucher Disease
RCG080
GLYCOGENOSIS
RCG060
GOODMAN SYNDROME
RNG030
HALLERMAN-STREIFF SYNDROME
RNG040
dysostosis OCULOMANDIBOLARE
Hartnup Disease
RCG040
HUNTER SYNDROME
RCG140
Hurler Syndrome
RCG140
IMINOACIDEMIA
RCG040
hyperammonemia HEREDITARY
RCG050
Homozygous familial hypercholesterolaemia TYPE IIa
RCG070
Homozygous familial hypercholesterolaemia TYPE IIb
RCG070
IPERISTIDINEMIA
RCG040
congenital adrenal hyperplasia
RCG020
familial hypertriglyceridemia
RCG070
IPERVALINEMIA
RCG040
hypobetalipoproteinemia
RCG070
hypoplasia megakaryocytic IDIOPATHIC
RDG040
Histiocytosis X
RCG150
congenital ichthyosis
RNG070
ICHTHYOSIS hystrix, Curth-Macklin TYPE
RNG070
lamellar ichthyosis RECESSIVE
RNG070
Bullosa Erythroderma ichthyosiform congenital
ICHTHYOSIS HARLEQUIN TYPE
RNG070
X-linked ichthyosis
RNG070
KENNEDY DISEASE
RFG050
Kniest dysplasia
RNG050
DYSPLASIA METATROPICA
KRABBE DISEASE
RFG010
KUFS DISEASE
RFG020
Kugelberg-Welander Disease
RFG050
Landouzy-Dejerine dystrophy
RFG080
Lesch-Nyhan Disease
RCG120
metachromatic leukodystrophy
RFG010
Malabsorption CONGENITAL sucrose, and isomaltose
RCG060
urine disease maple syrup
RCG040
Marinesco-Sjogren Syndrome
RFG040
Maroteaux-Lamy Syndrome
RCG140
McCune-Albright Syndrome
RNG060
BARS DISSEMINATION
MEESMANN FIBROUS DYSTROPHY
OF JUVENILE EPITHELIAL CORNEAL DYSTROPHY RFG140
MIOPATIA CENTRAL CORE
RFG070
MIOPATIA CENTRONUCLEARE
RFG070
MIOPATIA DESMIN STORAGE
RFG070
MIOPATIA NEMALINICA
RFG070
MORQUIO MALATTIA DI
RCG140
NETHERTON SINDROME DI
RNG070
NEUROPATIA ASSONALE GIGANTE
RFG060
NEUROPATIA CONGENITA IPOMIELINIZZANTE
RFG060
NEUROPATIA SENSORIALE EREDITARIA
RFG060
NEUROPATIA TOMACULARE
RFG060
POLINEUROPATIA RICORRENTE FAMILIARE
NEZELOF SINDROME DI
RCG160
NIEMANN PICK MALATTIA DI
RCG080
OMOCISTINURIA
RCG040
OSTEOGENESI IMPERFETTA
RNG060
osteopetrosis
RNG060
hereditary spastic paraplegia
RFG040
STRUMPEL-LORRAINE'S DISEASE
Pelizaeus-Merzbacher Disease
RFG010
PIERRE ROBIN SYNDROME
RNG040
thrombotic THROMBOCYTOPENIC
RGG010
Moschowitz SYNDROME
Refsum Disease
RFG060
EREDOPATIA ATAXIA POLINEURITIFORME
Retinitis Pigmentosa
RFG110
retinal pigment
RETINAL DYSTROPHY Punct ALBESCENS
RFG110
fundus ALBIPUNCTATUS
CHUTORIAN-ROSENBERG SYNDROME
RFG060
ROUSSY-LEVY SYNDROME
RFG060
SANFILIPPO SYNDROME
RCG140
Scheie SYNDROME OF
RCG140
SCHMIDT SYNDROME
RCG030
Autoimmune polyendocrinopathy TYPE II
hereditary spherocytosis
RDG010
campomelic syndrome
RNG050
malabsorption METHIONINE
RCG040
hyperferritinemia-SYNDROME CONGENITAL CATARACT
RCG100
Stargardt Disease
RFG110
STEINERT DISEASE
RFG090
STORAGE POOL DEFICIENCY
RDG030
THALASSEMIA
RDG010
TANGIER DISEASE
RCG070
ALFALIPOPROTEINA
THOMSEN FAMILY OF DEFICIENCY DISEASE
RFG090
Treacher Collins Syndrome
RNG040
thrombasthenia
RDG030
von Eulenburg Disease
RFG090
VON WILLEBRAND DISEASE
RDG020
Werdnig-Hoffman Disease
RFG050
xanthinuria
RCG120
xanthomatosis CEREBROTENDINEA
RCG070
