Table 4: List of Rare Diseases and Related Terms as per US ...

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1051 Charcot-Marie-Tooth disease type 2C 1052 Charcot-Marie-Tooth disease type 2D 1053 Charcot-Marie-Tooth disease type 2E 1054 Charcot-Marie-Tooth disease type 2F 1055 Charcot-Marie-Tooth disease type 2G 1056 Charcot-Marie-Tooth disease type 2H 1057 Charcot-Marie-Tooth disease type 2I 1058 Charcot-Marie-Tooth disease type 2J 1059 Charcot-Marie-Tooth disease type 2K 1060 Charcot-Marie-Tooth disease type 4A 1061 Charcot-Marie-Tooth disease type 4B1 1062 Charcot-Marie-Tooth disease type 4B2 1063 Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma 1064 Charcot-Marie-Tooth disease type 4C 1065 Charcot-Marie-Tooth disease type 4E 1066 Charcot-Marie-Tooth disease with ptosis and parkinsonism 1067 Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant 1068 Charcot-Marie-Tooth disease X-linked 1 1069 Charcot-Marie-Tooth disease X-linked recessive 2 1070 Charcot-Marie-Tooth disease X-linked recessive 3 1071 Charcot-Marie-Tooth type 1 aplasia cutis congenita 1072 CHARGE syndrome 1073 Charles Bonnet syndrome 1074 Charlie M syndrome 1075 Chediak-Higashi syndrome 1076 Cheilitis glandularis 1077 Cherubism 1078 Chester porphyria 1079 Chiari malformation type 2 1080 Chiari malformation type 3 1081 Chiari malformation type 4 1082 Chiari-Frommel syndrome 1083 Chikungunya 1084 Chilaiditi syndrome 1085 CHILD syndrome 1086 Childhood disintegrative disorder 1087 Childhood-onset cerebral X-linked adrenoleukodystrophy 1088 Childhood-Onset Schizophrenia 1089 Children's interstitial lung disease
1090 Chitayat Meunier Hodgkinson syndrome 1091 Chitty Hall Webb syndrome 1092 Cholecystitis 1093 Cholera 1094 Cholestasis, progressive familial intrahepatic 1 1095 Cholestasis, progressive familial intrahepatic 2 1096 Cholestasis, progressive familial intrahepatic 3 1097 Cholestasis, progressive familial intrahepatic 4 1098 Cholesteatoma 1099 Cholesterol pneumonia 1100 Chondroblastoma 1101 Chondrocalcinosis 1 1102 Chondrocalcinosis 2 1103 Chondrocalcinosis due to apatite crystal deposition 1104 Chondrodysplasia 1105 Chondrodysplasia acromesomelic with genital anomalies 1106 Chondrodysplasia Blomstrand type 1107 Chondrodysplasia calcificans metaphysealis 1108 Chondrodysplasia lethal recessive 1109 Chondrodysplasia punctata 1, X-linked recessive 1110 Chondrodysplasia punctata 2 X-linked dominant 1111 Chondrodysplasia punctata Sheffield type 1112 Chondrodysplasia punctata syndrome 1113 Chondrodysplasia punctata with steroid sulfatase deficiency 1114 Chondrodysplasia punctata, humero-metacarpal type 1115 Chondrodysplasia situs inversus imperforate anus polydactyly 1116 Chondrodysplasia, Grebe type 1117 Chondrodystrophy 1118 Chondroma 1119 Chondrosarcoma 1120 Chordoid glioma of the third ventricle 1121 Chordoma 1122 Chorea familial benign 1123 Chorea minor 1124 Chorea, remitting with nystagmus and cataracts 1125 Choreoacanthocytosis 1126 Choreoacanthocytosis amyotrophic 1127 Choriocarcinoma 1128 Chorioretinitis 1129 Chorioretinopathy dominant form microcephaly
Page 1 and 2: Table 4: List of Rare Diseases and
Page 3 and 4: 77 Acrodysplasia with ossification
Page 5 and 6: 156 Adenosine deaminase deficiency
Page 7 and 8: 235 Alopecia mental retardation syn
Page 9 and 10: 313 Anal sphincter dysplasia 314 An
Page 11 and 12: 389 Anterior segment mesenchymal dy
Page 13 and 14: 467 Arthrogryposis renal dysfunctio
Page 15 and 16: 542 Autosomal recessive neuronal ce
Page 17 and 18: 621 Becker muscular dystrophy 622 B
Page 19 and 20: 699 Blastoma 700 Blastomycosis 701
Page 21 and 22: 777 Braddock Jones Superneau syndro
Page 23 and 24: 857 Camurati-Engelmann disease 858
Page 25 and 26: 937 Cataract, autosomal recessive c
Page 27: 1012 Ceroid lipofuscinosis neuronal
Page 31 and 32: 1170 Chromosome 16p deletion 1171 C
Page 33 and 34: 1249 Chronic atypical neutrophilic
Page 35 and 36: 1325 Cochleosaccular degeneration o
Page 37 and 38: 1404 Congenital aplastic anemia 140
Page 39 and 40: 1482 Congenital nonprogressive myop
Page 41 and 42: 1561 Cranioacrofacial syndrome 1562
Page 43 and 44: 1641 Cutis laxa, autosomal recessiv
Page 45 and 46: 1713 Deafness, autosomal dominant n
Page 47 and 48: 1790 Diamond-Blackfan anemia 2 1791
Page 49 and 50: 1868 Duane syndrome 1869 Duane synd
Page 51 and 52: 1946 EAF 1947 Eagle syndrome 1948 E
Page 53 and 54: 2024 Endocardial fibroelastosis 202
Page 55 and 56: 2102 Erythropoietic uroporphyria as
Page 57 and 58: 2181 Familial exudative vitreoretin
Page 59 and 60: 2260 Fetal brain disruption sequenc
Page 61 and 62: 2338 Frank Ter Haar syndrome 2339 F
Page 63 and 64: 2418 Gay Feinmesser Cohen syndrome
Page 65 and 66: 2497 Glucocorticoid resistance 2498
Page 67 and 68: 2577 Gray platelet syndrome 2578 Gr
Page 69 and 70: 2656 Hemicrania continua 2657 Hemif
Page 71 and 72: 2734 Hereditary nodular heterotopia
Page 73 and 74: 2814 Horner's syndrome 2815 Horsesh
Page 75 and 76: 2894 Hyperlipoproteinemia type 4 28
Page 77 and 78: 2970 Hypopituitarism postaxial poly
Page 79 and 80:
3045 Immune dysfunction with T-cell
Page 81 and 82:
3121 Intravascular papillary endoth
Page 83 and 84:
3201 Juvenile Scleroderma 3202 Juve
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3281 Kohlschutter Tonz syndrome 328
Page 87 and 88:
3360 Lattice corneal dystrophy type
Page 89 and 90:
hypogammaglobulinema 3439 Leukoence
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3517 Long QT syndrome 10 3518 Long
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3594 Mal de debarquement 3595 Malak
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3672 Maturity-onset diabetes of the
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3750 Mental retardation arachnodact
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3824 Methylmalonic acidemia with ho
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3901 Mikulicz disease 3902 Miles-Ca
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3977 Muckle-Wells syndrome 3978 Muc
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4055 Myasthenia gravis 4056 Myasthe
Page 107 and 108:
4134 Nance-Horan syndrome 4135 Narc
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4213 Neuromyelitis optica spectrum
Page 111 and 112:
4293 Nystagmus, hereditary vertical
Page 113 and 114:
4372 Optic atrophy 2 4373 Optic atr
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4451 Osteopetrosis autosomal domina
Page 117 and 118:
4531 Papular urticaria 4532 Paracoc
Page 119 and 120:
4611 Pentosuria 4612 Penttinen-Aula
Page 121 and 122:
4688 Pilotto syndrome 4689 Pineal p
Page 123 and 124:
4766 Pontocerebellar hypoplasia typ
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4844 Primary pigmented nodular adre
Page 127 and 128:
4923 Pseudopelade of Brocq 4924 Pse
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5003 Radiation induced cancer 5004
Page 131 and 132:
5079 Restless legs syndrome, suscep
Page 133 and 134:
5157 Rhizomelic syndrome 5158 RHYNS
Page 135 and 136:
5237 Sacral defect with anterior me
Page 137 and 138:
5317 Seckel syndrome 5318 Secretory
Page 139 and 140:
5391 Short stature, cranial hyperos
Page 141 and 142:
5470 Spastic ataxia Charlevoix-Sagu
Page 143 and 144:
5549 Spinocerebellar ataxia 27 5550
Page 145 and 146:
5625 Spondylometaphyseal dysplasia
Page 147 and 148:
5704 Superior limbic keratoconjunct
Page 149 and 150:
5781 T-cell immunodeficiency, conge
Page 151 and 152:
5859 Thyroid cancer, childhood 5860
Page 153 and 154:
5939 Trichomalacia 5940 Trichomegal
Page 155 and 156:
6017 Ulcerative proctitis 6018 Uler
Page 157 and 158:
6096 Verloove Vanhorick Brubakk syn
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6176 Weyers acrofacial dysostosis 6
Page 161 and 162:
6253 X-linked mental retardation Gu
Page 163:
Note: 6333 4-hydroxyphenylacetic ac
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Table 4: List of Rare Diseases and Related Terms as per US ...

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