Rare diseases

[RN0790] Aarskog, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1340] Aase-smith, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RI0010] Acalasia isolata e acalasia associata a sindromi (Digestive system diseases)

[RC0120] Aceruloplasminemia congenita (Metabolic diseases)

[RN0280] Acrodisostosi (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0340] Adams-Oliver, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0120] Adrenoleucodistrofia (Metabolic diseases)

[RN0030] Agenesia cerebellare (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG150] Agenesia/disgenesia del corpo calloso in forma isolata o sindromica (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1350] Alagille, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0010] Alpers, malattia di (Metabolic diseases)

[RN1360] Alport, sindrome di (Diseases of the genitourinary system)

[RN1370] Alström, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG040] Altre anomalie congenite gravi ed invalidanti del cranio e/o delle ossa della faccia, dei tegumenti e delle mucose (escluso: schisi isolata dell'ugola e labioschisi isolata) (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG100] Altre anomalie congenite multiple gravi ed invalidanti con ritardo mentale (limitatamente a sindromi note) (Congenital malformations, chromosomopathies and genetic syndromes)

[RCG180] Altre malattie da accumulo lisosomiale (Metabolic diseases)

[RNG132] Altre malformazioni congenite gravi ed invalidanti della parete addominale (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG252] Altre malformazioni congenite gravi ed invalidanti dell'apparato digerente (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG264] Altre malformazioni congenite gravi ed invalidanti dell'apparato genito-urinario (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG131] Altre sindromi malformative congenite gravi ed invalidanti con alterazione degli arti come segno principale (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG011] Altre sindromi malformative congenite gravi ed invalidanti con prevalente alterazione del sistema nervoso (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG111] Altre sindromi malformative congenite gravi ed invalidanti con prevalente interessamento dell'apparato visivo (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG142] Altre sindromi malformative congenite gravi ed invalidanti dei vasi periferici (Congenital malformations, chromosomopathies and genetic syndromes)

[RCG103] Altri difetti congeniti del metabolismo e del trasporto di metalli (Metabolic diseases)

[RCG095] Altri difetti congeniti del metabolismo e del trasporto di vitamine e cofattori non proteici escluso: deficienza familiare di vitamina e (codice rfg040) (Metabolic diseases)

[RCG083] Altri difetti congeniti del metabolismo energetico mitocondriale (Metabolic diseases)

[RNG263] Altri difetti gravi ed invalidanti dello sviluppo sessuale con ambiguita' dei genitali e/o discordanza cariotipo/sviluppo gonadico e/o fenotipo (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG200] Amartomatosi multiple (Congenital malformations, chromosomopathies and genetic syndromes)

[RCG130] Amiloidosi sistemiche (Metabolic diseases)

[RD0070] Anemie aplastiche acquisite (escluso: forme midollari aplastiche transitorie) (Diseases of the blood and hematopoietic organs)

[RDG010] Anemie ereditarie (escluso: deficit di glucosio-6-fosfato deidrogenasi) (Diseases of the blood and hematopoietic organs)

[RN1300] Angelman, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RC0191] Angioedema acquisito da deficit di c1 inibitore (Malattie del sistema immunitario)

[RC0190] Angioedema ereditario (Malattie del sistema immunitario)

[RM0070] Angiomatosi cistica diffusa dell'osso (Musculoskeletal system and connective tissue diseases)

[RN0110] Aniridia (Congenital malformations, chromosomopathies and genetic syndromes)

[RFG150] Anoftalmia/microftalmia isolate o sindromiche (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0130] Anomalia (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0800] Antley-Bixler, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0640] Aplasia congenita della cute (Skin and subcutaneous tissue diseases)

[RP0050] Apnea infantile (Some morbid conditions of perinatal origin)

[RN0010] Arnold-Chiari, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RG0080] Arterite a cellule giganti (Diseases of the circulatory system)

[RN1250] Associazione vacterl/vater (Congenital malformations, chromosomopathies and genetic syndromes)

[RC0130] Atransferrinemia congenita (Metabolic diseases)

[RN0210] Atresia biliare (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0170] Atresia del digiuno (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0160] Atresia esofagea e/o fistola tracheoesofagea (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0180] Atresia o stenosi duodenale (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0050] Atrofia dentatorubro-pallidoluysiana (Central and peripheral nervous system diseases)

[RF0240] Atrofia essenziale dell'iride (Diseases of the visual apparatus)

[RF0081] Atrofia multisistemica (Central and peripheral nervous system diseases)

[RF0300] Atrofia ottica di leber (Metabolic diseases)

[RFG050] Atrofie muscolari spinali (Central and peripheral nervous system diseases)

[RN0090] Axenfeld-Rieger, anomalia di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1050] Axenfeld-Rieger, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0810] Baller-Gerold, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1380] Bardet-biedl, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0820] Beckwith-wiedemann, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RC0210] Behçet, malattia di (Diseases of the circulatory system)

[RF0220] Behr, sindrome di (Diseases of the visual apparatus)

[RN0830] Bloom, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0150] Blue rubber bleb nevus (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0840] Börjeson-Forssman-Lehmann, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RG0110] Budd-chiari, sindrome di (Diseases of the circulatory system)

[RF0310] Cadasil (Central and peripheral nervous system diseases)

[RC0230] Calcinosi tumorale (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RN0290] Camptodattilia familiare (Congenital malformations, chromosomopathies and genetic syndromes)

[RBG021] Cancro non poliposico ereditario del colon (Tumors)

[RC0200] Carenza congenita di alfa-1-antitripsina (Malattie del sistema immunitario)

[RN0220] Caroli, malattia di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1390] Carpenter, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RFG020] Ceroidolipofuscinosi (Metabolic diseases)

[RN1780] Char, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RD0060] Chediak-higashi, malattia di (Diseases of the blood and hematopoietic organs)

[RF0280] Cheratocono (Diseases of the visual apparatus)

[RNG130] Cheratodermie palmoplantari ereditarie (Skin and subcutaneous tissue diseases)

[RN0530] Cheratosi follicolare acuminata (Skin and subcutaneous tissue diseases)

[RJ0030] Cistite interstiziale (Diseases of the genitourinary system)

[RF0201] Coats, malattia di (Diseases of the visual apparatus)

[RN1400] Cockayne, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0350] Coffin-Lowry, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0360] Coffin-Siris, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0270] Cogan, sindrome di (Diseases of the visual apparatus)

[RN0401] Cohen, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RI0050] Colangite primitiva sclerosante (Digestive system diseases)

[RIG010] Colestasi intraepatiche progressive familiari (Digestive system diseases)

[RN0120] Coloboma congenito del disco ottico (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG101] Coloboma congenito oculare isolato o sindromico (Congenital malformations, chromosomopathies and genetic syndromes)

[RBG020] Complesso Carney (Tumors)

[RNG050] Condrodistrofie congenite (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0290] Congiuntivite lignea (Diseases of the visual apparatus)

[RM0030] Connettivite mista (Musculoskeletal system and connective tissue diseases)

[RF0080] Corea di huntington (Central and peripheral nervous system diseases)

[RN1410] Cornelia de lange, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0320] Coroidite multifocale (Diseases of the visual apparatus)

[RF0330] Coroidite serpiginosa (Diseases of the visual apparatus)

[RC0250] Costello, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RC0180] Crigler-Najjar, sindrome di (Metabolic diseases)

[RC0110] Crioglobulinemia mista (Diseases of the circulatory system)

[RB0030] Cronkhite-canada, malattia di (Tumors)

[RN0540] Cute marmorata teleangectasica congenita (Skin and subcutaneous tissue diseases)

[RN0500] Cutis laxa (Skin and subcutaneous tissue diseases)

[RN0550] Darier, malattia di (Skin and subcutaneous tissue diseases)

[RN1420] De sanctis-cacchione, malattia di (Congenital malformations, chromosomopathies and genetic syndromes)

[RC0070] Deficienza congenita di zinco (Metabolic diseases)

[RC0010] Deficienza di acth (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RC0021] Deficit congenito isolato di gh (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RN0270] Deformità di sprengel (Congenital malformations, chromosomopathies and genetic syndromes)

[RFG130] Degenerazioni della cornea (Diseases of the visual apparatus)

[RN1430] Denis-drash, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RC0090] Dercum, malattia di (Metabolic diseases)

[RM0010] Dermatomiosite (Musculoskeletal system and connective tissue diseases)

[RJ0010] Diabete insipido nefrogenico (Diseases of the genitourinary system)

[RCG085] Difetti congeniti del metabolismo dei neurotrasmettitori e dei piccoli peptidi (Metabolic diseases)

[RCG050] Difetti congeniti del metabolismo del ciclo dell'urea e iperammoniemie ereditarie (Metabolic diseases)

[RCG093] Difetti congeniti del metabolismo del metabolismo e del trasporto della cobalamina e del folato (Metabolic diseases)

[RCG076] Difetti congeniti del metabolismo del piruvato e del ciclo degli acidi tricarbossilici (Metabolic diseases)

[RCG102] Difetti congeniti del metabolismo del rame (Metabolic diseases)

[RCG070] Difetti congeniti del metabolismo delle lipoproteine (escluso: ipercolesterolemia familiare eterozigote tipo iia e iib; ipercolesterolemia primitiva poligenica; ipercolesterolemia familiare combinata; iperlipoproteinemia di tipo iii) (Metabolic diseases)

[RCG110] Difetti congeniti del metabolismo delle porfirine e dell'eme (Metabolic diseases)

[RCG120] Difetti congeniti del metabolismo delle purine e delle pirimidine (Metabolic diseases)

[RCG060] Difetti congeniti del metabolismo e del trasporto dei carboidrati escluso: diabete mellito (Metabolic diseases)

[RCG100] Difetti congeniti del metabolismo e del trasporto del ferro (Metabolic diseases)

[RCG094] Difetti congeniti del metabolismo e del trasporto della vitamina d (Metabolic diseases)

[RCG101] Difetti congeniti del metabolismo e del trasporto dello zinco (Metabolic diseases)

[RNG251] Difetti congeniti del tubo digerente: agenesia, atresie, fistole e duplicazioni (Congenital malformations, chromosomopathies and genetic syndromes)

[RCG075] Difetti congeniti della chetogenesi e della chetolisi (Metabolic diseases)

[RCG078] Difetti congeniti della fosforilazione ossidativa mitocondriale da alterazioni del dna mitocondriale (Metabolic diseases)

[RCG190] Difetti congeniti della glicosilazione proteica (cdgs) (Metabolic diseases)

[RCG074] Difetti congeniti della ossidazione mitocondriale degli acidi grassi (escluso: sindrome di zellweger codice rn1760) (Metabolic diseases)

[RCG072] Difetti congeniti della sintesi degli acidi biliari (Metabolic diseases)

[RCG073] Difetti congeniti della sintesi dei fosfolipidi e dei glicosfingolipidi (Metabolic diseases)

[RCG071] Difetti congeniti della sintesi del colesterolo (Metabolic diseases)

[RIG020] Difetti congeniti gravi ed invalidanti del trasporto intestinale (Digestive system diseases)

[RCG077] Difetti congeniti isolati di un complesso della fosforilazione ossidativa mitocondriale (Metabolic diseases)

[RCG092] Difetti congeniti responsivi alla biotina (Metabolic diseases)

[RCG080] Difetti da accumulo di lipidi (Metabolic diseases)

[RCG081] Difetti della fosforilazione ossidativa mitocondriale da alterazioni del dna nucleare (Metabolic diseases)

[RNG262] Difetti dello sviluppo sessuale con ambiguita' dei genitali e/o discordanza cariotipo/sviluppo gonadico e/o fenotipo (Congenital malformations, chromosomopathies and genetic syndromes)

[RDG020] Difetti ereditari della coagulazione (Diseases of the blood and hematopoietic organs)

[RN0560] Discheratosi congenita (Skin and subcutaneous tissue diseases)

[RNG110] Discinesie ciliari primarie (Respiratory diseases)

[RN1440] Displasia oculo-dento-digitale (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0860] Displasia setto-ottica (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1450] Displasia spondiloepifisaria congenita (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0090] Distonia di torsione idiopatica (Central and peripheral nervous system diseases)

[RFG160] Distonie primarie (Central and peripheral nervous system diseases)

[RFG140] Distrofie ereditarie della cornea (Diseases of the visual apparatus)

[RFG120] Distrofie ereditarie della coroide (Diseases of the visual apparatus)

[RFG090] Distrofie miotoniche (Central and peripheral nervous system diseases)

[RFG080] Distrofie muscolari (Central and peripheral nervous system diseases)

[RFG110] Distrofie retiniche ereditarie (Diseases of the visual apparatus)

[RCG040] Disturbi del metabolismo e del trasporto degli aminoacidi (Metabolic diseases)

[RF0061] Dravet, sindrome di (Central and peripheral nervous system diseases)

[RN0870] Dubowitz, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0370] Dyggve-Melchior-Clausen (dmc), sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0210] Eales, malattia di (Diseases of the visual apparatus)

[RF0190] Eaton-Lambert, sindrome di (Central and peripheral nervous system diseases)

[RN0880] Ectrodattilia - displasia ectodermica - palatoschisi (Skin and subcutaneous tissue diseases)

[RN0330] Ehlers-Danlos, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RP0010] Embriofetopatia rubeolica (Some morbid conditions of perinatal origin)

[RP0080] Embriopatia da iperfenilalaninemia (Some morbid conditions of perinatal origin)

[RF0250] Emeralopia congenita (Diseases of the visual apparatus)

[RF0350] Emicrania emiplegica familiare (Central and peripheral nervous system diseases)

[RF0360] Emiplegia alternante (Central and peripheral nervous system diseases)

[RD0020] Emoglobinuria parossistica notturna (Diseases of the blood and hematopoietic organs)

[RH0020] Emosiderosi polmonare idiopatica (Respiratory diseases)

[RG0010] Endocardite reumatica (Diseases of the circulatory system)

[RN0570] Epidermolisi bollosa ereditaria (Skin and subcutaneous tissue diseases)

[RF0060] Epilessia mioclonica progressiva (Central and peripheral nervous system diseases)

[RN0580] Eritrocheratodermia simmetrica progressiva (Skin and subcutaneous tissue diseases)

[RN0590] Eritrocheratodermia variabile (Skin and subcutaneous tissue diseases)

[RL0010] Eritrocheratolisi hiemalis (Skin and subcutaneous tissue diseases)

[RN0240] Ermafroditismo vero (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1810] Estrofia vescicale (Congenital malformations, chromosomopathies and genetic syndromes)

[RM0080] Eteroplasia ossea progressiva (Musculoskeletal system and connective tissue diseases)

[RF0370] Fahr, malattia di (Central and peripheral nervous system diseases)

[RC0100] Farber, malattia di (Metabolic diseases)

[RM0050] Fascite diffusa (Musculoskeletal system and connective tissue diseases)

[RM0040] Fascite eosinofila (Musculoskeletal system and connective tissue diseases)

[RC0241] Febbre mediterranea familiare (Malattie del sistema immunitario)

[RM0090] Fibrodisplasia ossificante progressiva (Musculoskeletal system and connective tissue diseases)

[RP0070] Fibrosi epatica congenita (Some morbid conditions of perinatal origin)

[RJ0020] Fibrosi retroperitoneale (Diseases of the genitourinary system)

[RN0380] Filippi, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1820] Fine-lubinsky, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0260] Focomelia (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0070] Foix-Chavany-Marie, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1460] Fraser, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0890] Freeman-Sheldon, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0900] Fryns, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RFG030] Gangliosidosi (Metabolic diseases)

[RB0040] Gardner, sindrome di (Tumors)

[RI0020] Gastrite ipertrofica gigante (Digestive system diseases)

[RI0030] Gastroenterite eosinofila (Digestive system diseases)

[RN0320] Gastroschisi (Congenital malformations, chromosomopathies and genetic syndromes)

[RQ0010] Gerstmann, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RJG020] Glomerulopatie primitive (escluso: glomerulopatia a lesioni minime) (Diseases of the genitourinary system)

[RN0201] Goldberg-Shprintzen, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0910] Goldenhar, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RG0060] Goodpasture, sindrome di (Diseases of the circulatory system)

[RG0070] Granulomatosi con poliangite (Diseases of the circulatory system)

[RG0050] Granulomatosi eosinofilica con poliangite (Diseases of the circulatory system)

[RF0183] Guillain-Barré, sindrome di (limitatamente alle forme croniche, gravi ed invalidanti) (Central and peripheral nervous system diseases)

[RA0010] Hansen, malattia di (Infectious and parasitic diseases)

[RN1470] Hay-wells, sindrome di (Skin and subcutaneous tissue diseases)

[RN0920] Hermansky-Pudlak, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0200] Hirschsprung, malattia di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0930] Holt-Oram, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RCG160] Immunodeficienze primarie (Malattie del sistema immunitario)

[RN0510] Incontinentia pigmenti (Skin and subcutaneous tissue diseases)

[RIG021] Insufficienza intestinale cronica benigna (Diseases of the genitourinary system)

[RCG010] Iperaldosteronismi primitivi (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RN0600] Ipercheratosi epidermolitica (Skin and subcutaneous tissue diseases)

[RCG061] Iperinsulinismi congeniti (Metabolic diseases)

[RG0120] Ipertensione polmonare arteriosa idiopatica (Respiratory diseases)

[RC0160] Ipofosfatasia (Metabolic diseases)

[RC0022] Ipogonadismo ipogonadotropo congenito (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RN1480] Ipomelanosi di ito (Skin and subcutaneous tissue diseases)

[RN0610] Ipoplasia focale dermica (Skin and subcutaneous tissue diseases)

[RF0230] Iridociclite eterocromica di fuchs (Diseases of the visual apparatus)

[RN1490] Isaacs, sindrome di (Central and peripheral nervous system diseases)

[RCG150] Istiocitosi croniche (Malattie del sistema immunitario)

[RNG070] Ittiosi congenite (escluso: forme non gravi di ittiosi volgare) (Skin and subcutaneous tissue diseases)

[RN0740] Ivemark , sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0400] Jackson-Weiss, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0410] Jarcho-levin, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0040] Joubert, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RC0020] Kallmann, sindrome di (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RN0950] Kartagener, sindrome di (Respiratory diseases)

[RF0020] Kearns-Sayre, sindrome di (Metabolic diseases)

[RC0300] Kenny-Caffey, sindrome di (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RP0060] Kernittero (Some morbid conditions of perinatal origin)

[RN1500] Kid, sindrome (Skin and subcutaneous tissue diseases)

[RN0310] Klippel-Feil , sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1510] Klippel-trenaunay, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1520] Landau-kleffner, sindrome di (Central and peripheral nervous system diseases)

[RF0030] Leigh, malattia di (Metabolic diseases)

[RF0130] Lennox-Gastaut, sindrome di (Central and peripheral nervous system diseases)

[RC0050] Leprecaunismo (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RFG010] Leucodistrofie (Central and peripheral nervous system diseases)

[RN1540] Levy-hollister, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0182] Lewis Sumner, sindrome di (Central and peripheral nervous system diseases)

[RL0060] Lichen sclerosus et atrophicus (Skin and subcutaneous tissue diseases)

[RI0080] Linfangectasia intestinale primitiva (Digestive system diseases)

[RGG020] Linfedemi primari cronici (Diseases of the circulatory system)

[RB0060] Linfoangioleiomiomatosi polmonare (Tumors)

[RC0080] Lipodistrofia totale (Metabolic diseases)

[RN0050] Lissencefalia isolata o sindromica (Congenital malformations, chromosomopathies and genetic syndromes)

[RC0270] Lowe, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RA0030] Lyme, malattia di (Infectious and parasitic diseases)

[RN0960] Maffucci, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1850] Mainzer-saldino, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RI0070] Malattia da inclusione dei microvilli (Digestive system diseases)

[RF0380] Malattia da inclusioni intranucleari neuronali (Central and peripheral nervous system diseases)

[RN0230] Malattia del fegato policistico (Congenital malformations, chromosomopathies and genetic syndromes)

[RD0050] Malattia granulomatosa cronica (Diseases of the blood and hematopoietic organs)

[RNG261] Malattia renale cistica genetica (escluso rene policistico autosomico dominante ) (Congenital malformations, chromosomopathies and genetic syndromes)

[RHG010] Malattie interstiziali polmonari primitive (Respiratory diseases)

[RCG084] Malattie perossisomiali (Metabolic diseases)

[RFG040] Malattie spinocerebellari (Central and peripheral nervous system diseases)

[RN0190] Malformazione ano-rettale in forma isolata o sindromica (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1320] Marfan, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0970] Marshall, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1550] Marshall-smith, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RD0081] Mastocitosi sistemica (Diseases of the blood and hematopoietic organs)

[RN0980] Meckel, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RB0071] Melanoma cutaneo familiare e/o multiplo (Tumors)

[RF0160] Melkersson-rosenthal, sindrome di (Central and peripheral nervous system diseases)

[RM0100] Meloreostosi (Musculoskeletal system and connective tissue diseases)

[RGG010] Microangiopatie trombotiche (Diseases of the circulatory system)

[RN0020] Microcefalia isolata o sindromica (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0070] Mioclono essenziale ereditario (Central and peripheral nervous system diseases)

[RFG070] Miopatie congenite ereditarie (Central and peripheral nervous system diseases)

[RM0110] Miosite a corpi inclusi (Musculoskeletal system and connective tissue diseases)

[RM0111] Miosite eosinofila idiopatica (Musculoskeletal system and connective tissue diseases)

[RCG090] Mucolipidosi (Metabolic diseases)

[RCG140] Mucopolisaccaridosi (Metabolic diseases)

[RN1000] Nager, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0150] Narcolessia (Central and peripheral nervous system diseases)

[RB0010] Nefroblastoma (Tumors)

[RN1560] Neu-laxova, sindrome di (Skin and subcutaneous tissue diseases)

[RN1570] Neuroacantocitosi (Congenital malformations, chromosomopathies and genetic syndromes)

[RFG041] Neurodegenerazione con accumulo cerebrale di ferro (Central and peripheral nervous system diseases)

[RBG010] Neurofibromatosi (Tumors)

[RF0181] Neuropatia motoria multifocale (Central and peripheral nervous system diseases)

[RFG060] Neuropatie ereditarie (Central and peripheral nervous system diseases)

[RD0040] Neutropenia ciclica (Diseases of the blood and hematopoietic organs)

[RDG051] Neutropenie congenite (Diseases of the blood and hematopoietic organs)

[RN1010] Noonan, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1580] Norrie, malattia di (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0260] Oguchi, sindrome di (Diseases of the visual apparatus)

[RCG091] Oligosaccaridosi (Metabolic diseases)

[RN0060] Oloprosencefalia isolata o sindromica (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0322] Onfalocele (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1020] Opitz, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG060] Osteodistrofie congenite isolate o in forma sindromica (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0620] Pachidermoperiostosi (Skin and subcutaneous tissue diseases)

[RN0420] Pallister w, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1030] Pallister-Hall, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1590] Pallister-killian, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0390] Paralisi bulbare progressiva con sordita' neurosensoriale (Central and peripheral nervous system diseases)

[RFG100] Paralisi normokaliemiche, ipo e iperkaliemiche (Central and peripheral nervous system diseases)

[RF0170] Paralisi sopranucleare progressiva (Central and peripheral nervous system diseases)

[RN0650] Parry-romberg, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1600] Pearson, sindrome di (Metabolic diseases)

[RL0030] Pemfigo (Skin and subcutaneous tissue diseases)

[RL0050] Pemfigoide benigno delle mucose (Skin and subcutaneous tissue diseases)

[RL0040] Pemfigoide bolloso (Skin and subcutaneous tissue diseases)

[RF0400] Pendred, sindrome di (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RN0140] Persistenza della membrana pupillare (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0100] Peters, anomalia di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0760] Peutz-Jeghers, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1040] Pfeiffer, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RDG031] Piastrinopatie autoimmuni primarie croniche (Diseases of the blood and hematopoietic organs)

[RDG030] Piastrinopatie ereditarie (Diseases of the blood and hematopoietic organs)

[RL0090] Pioderma gangrenoso cronico (Skin and subcutaneous tissue diseases)

[RN0430] Poland, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RG0020] Poliangioite microscopica (Diseases of the circulatory system)

[RG0030] Poliarterite nodosa (Diseases of the circulatory system)

[RM0060] Policondrite ricorrente (Musculoskeletal system and connective tissue diseases)

[RCG030] Poliendocrinopatie autoimmuni (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RM0020] Polimiosite (Musculoskeletal system and connective tissue diseases)

[RF0180] Polineuropatia cronica infiammatoria demielinizzante (Central and peripheral nervous system diseases)

[RB0050] Poliposi familiare (Tumors)

[RD0030] Porpora di henoch-schönlein ricorrente (Diseases of the circulatory system)

[RN1310] Prader-Willi, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RH0022] Proteinosi alveolare polmonare congenita (Respiratory diseases)

[RH0021] Proteinosi alveolare polmonare idiopatica (Respiratory diseases)

[RNG010] Pseudoermafroditismi (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0630] Pseudoxantoma elastico (Skin and subcutaneous tissue diseases)

[RC0040] Pubertà precoce idiopatica (esenzione di durata pari a 5 anni, rinnovabile) (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RC0170] Rachitismo ipofosfatemico vitamina d resistente (Metabolic diseases)

[RC0280] Refetoff, sindrome di (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RN0250] Rene con midollare a spugna (Congenital malformations, chromosomopathies and genetic syndromes)

[RJ0040] Rene policistico autosomico recessivo (Congenital malformations, chromosomopathies and genetic syndromes)

[RB0020] Retinoblastoma (attestato di esenzione rinnovabile dopo 5 anni) (Tumors)

[RF0040] Rett, sindrome di (Central and peripheral nervous system diseases)

[RN1060] Roberts, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1070] Robinow, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1620] Rubinstein-taybi, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1080] Russell-Silver, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RH0011] Sarcoidosi (esenzione da riconfermare dopo i primi 12 mesi, solo per le forme persistenti) (Respiratory diseases)

[RF0111] Schilder, malattia di (Central and peripheral nervous system diseases)

[RC0290] Schnitzler, sindrome di (Malattie del sistema immunitario)

[RL0080] Sclerosi cutanea diffusa ad alta gravità clinica (Skin and subcutaneous tissue diseases)

[RF0100] Sclerosi laterale amiotrofica (Central and peripheral nervous system diseases)

[RF0110] Sclerosi laterale primaria (Central and peripheral nervous system diseases)

[RM0120] Sclerosi sistemica progressiva (Musculoskeletal system and connective tissue diseases)

[RN0750] Sclerosi tuberosa (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1100] Seckel, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1110] Sequenza da ipocinesia fetale (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0440] Sequenza sirenomelica (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0730] Short sindrome (Congenital malformations, chromosomopathies and genetic syndromes)

[RD0080] Shwachman-diamond, sindrome di (Diseases of the blood and hematopoietic organs)

[RN1120] Simpson-Golabi-Behmel, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1630] Sindrome acrocallosa (Congenital malformations, chromosomopathies and genetic syndromes)

[RP0040] Sindrome alcolica fetale (Some morbid conditions of perinatal origin)

[RN1130] Sindrome branchio-oculo-facciale (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1140] Sindrome branchio-oto-renale (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1770] Sindrome cardiofacciale di cayler (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1150] Sindrome cardio-facio-cutanea (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0390] Sindrome cefalopolisindattilia di Greig (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0450] Sindrome cerebro-costo-mandibolare (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1640] Sindrome cerebro-oculo-facio-scheletrica (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0850] Sindrome Charge (Congenital malformations, chromosomopathies and genetic syndromes)

[RC0220] Sindrome da anticorpi antifosfolipidi (forma primitiva) (Malattie del sistema immunitario)

[RM0021] Sindrome da anticorpi antisintetasi (Musculoskeletal system and connective tissue diseases)

[RI0040] Sindrome da pseudo-ostruzione intestinale (Digestive system diseases)

[RN1670] Sindrome da pterigi multipli (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0300] Sindrome da regressione caudale (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0670] Sindrome del Cri du Chat (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1330] Sindrome del cromosoma x fragile (Congenital malformations, chromosomopathies and genetic syndromes)

[RB0070] Sindrome del nevo basocellulare (Tumors)

[RN1650] Sindrome del nevo displastico (Skin and subcutaneous tissue diseases)

[RN1660] Sindrome del nevo epidermico (Skin and subcutaneous tissue diseases)

[RF0411] Sindrome della persona rigida (Central and peripheral nervous system diseases)

[RD0010] Sindrome emolitico uremica (Diseases of the blood and hematopoietic organs)

[RN0460] Sindrome femoro-facciale (Congenital malformations, chromosomopathies and genetic syndromes)

[RP0020] Sindrome fetale da acido valproico (Some morbid conditions of perinatal origin)

[RP0030] Sindrome fetale da idantoina (Some morbid conditions of perinatal origin)

[RN1021] Sindrome fg (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0940] Sindrome Kabuki (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1530] Sindrome leopard (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1830] Sindrome megalocornea-ritardo mentale (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0710] Sindrome Melas (Metabolic diseases)

[RN0720] Sindrome Merrf (Metabolic diseases)

[RL0070] Sindrome Michelin Tire Baby (Skin and subcutaneous tissue diseases)

[RN1190] Sindrome nail-patella (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1160] Sindrome oculo-cerebro-cutanea (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0470] Sindrome oto-palato-digitale (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1610] Sindrome poems (Central and peripheral nervous system diseases)

[RN1170] Sindrome proteus (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0321] Sindrome Prune Belly (Congenital malformations, chromosomopathies and genetic syndromes)

[RM0121] Sindrome Sapho (Musculoskeletal system and connective tissue diseases)

[RC0243] Sindrome traps (Malattie del sistema immunitario)

[RN1680] Sindrome trico-dento-ossea (Skin and subcutaneous tissue diseases)

[RN1180] Sindrome trico-rino-falangea (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0480] Sindrome trisma-pseudocamptodattilia (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1690] Sindrome trombocitopenica con aplasia del radio (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1730] Sindrome wagr (Congenital malformations, chromosomopathies and genetic syndromes)

[RCG020] Sindromi adrenogenitali congenite (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RCG161] Sindromi autoinfiammatorie ereditarie/familiari (Malattie del sistema immunitario)

[RNG020] Sindromi con artrogriposi multiple congenite (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG030] Sindromi con craniosinostosi (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG151] Sindromi con displasia ectodermica (Skin and subcutaneous tissue diseases)

[RNG080] Sindromi da aneuploidia cromosomica (escluso: trisomia 21; soggetti con cariotipo 47,xxy; sindrome del triplo x; sindrome del doppio y) (Congenital malformations, chromosomopathies and genetic syndromes)

[RCG082] Sindromi da deficit congenito di creatina (Metabolic diseases)

[RCG162] Sindromi da neoplasie endocrine multiple (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RCG031] Sindromi da resistenza all'ormone della crescita (Diseases of the endocrine glands, nutrition, metabolism and immune disorders)

[RNG090] Sindromi da riarrangiamenti strutturali sbilanciati cromosomici e genomici (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG095] Sindromi di waardenburg (Congenital malformations, chromosomopathies and genetic syndromes)

[RHG011] Sindromi gravi ed invalidanti con ipoventilazione centrale congenita (Respiratory diseases)

[RNG091] Sindromi malformative congenite con alterazione del tessuto connettivo come segno principale (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG093] Sindromi malformative congenite gravi ed invalidanti caratterizzate da un accrescimento precoce eccessivo (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG121] Sindromi malformative congenite gravi ed invalidanti con alterazione della faccia come segno principale (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG092] Sindromi malformative congenite gravi ed invalidanti con bassa statura come segno principale (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG271] Sindromi malformative congenite gravi ed invalidanti con disostosi come segno prevalente (Congenital malformations, chromosomopathies and genetic syndromes)

[RNG141] Sindromi malformative congenite gravi ed invalidanti del cuore e dei grandi vasi (esclusi: difetto interventricolare isolato; difetto interatriale isolato; stenosi isolata della valvola polmonare; pervietà del dotto di botallo) (Congenital malformations, chromosomopathies and genetic syndromes)

[RFG101] Sindromi miasteniche congenite e disimmuni (Central and peripheral nervous system diseases)

[RDG050] Sindromi mielodisplastiche (Diseases of the blood and hematopoietic organs)

[RNG094] Sindromi progeroidi (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0410] Siringomielia-siringobulbia (limitatamente alle forme anatomicamente e/o clinicamente rilevanti) (Central and peripheral nervous system diseases)

[RN1700] Sjögren-larsson, sindrome di (Skin and subcutaneous tissue diseases)

[RN1200] Smith-lemli-opitz, sindrome di (Metabolic diseases)

[RN1210] Smith-magenis, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RC0310] Sotos, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1220] Stickler, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0770] Sturge-Weber, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1230] Summitt, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RG0090] Takayasu, malattia di (Diseases of the circulatory system)

[RN1710] Tay, sindrome di (Skin and subcutaneous tissue diseases)

[RG0100] Teleangectasia emorragica ereditaria (Diseases of the circulatory system)

[RN1240] Townes-brocks, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RDG040] Trombocitopenie ereditarie (Diseases of the blood and hematopoietic organs)

[RJG010] Tubulopatie primitive (Diseases of the genitourinary system)

[RN0680] Turner, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0200] Vitreoretinopatia essudativa familiare (Diseases of the visual apparatus)

[RN1720] Vogt-koyanagi-harada, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0780] Von Hippel-Lindau, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1740] Walker-warburg, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0490] Weaver, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1750] Weill-marchesani, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RC0060] Werner, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RF0140] West, sindrome di (Central and peripheral nervous system diseases)

[RA0020] Whipple, malattia di (Infectious and parasitic diseases)

[RN1260] Wildervanck, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1270] Williams, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RC0150] Wilson, malattia di (Metabolic diseases)

[RN1280] Winchester, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0700] Wolf-Hirschhorn, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN1290] Wolfram, sindrome di (Congenital malformations, chromosomopathies and genetic syndromes)

[RN0520] Xeroderma pigmentoso (Skin and subcutaneous tissue diseases)

[RN1760] Zellweger, sindrome di (Metabolic diseases)

Parlato