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

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2142 Facial asymetry temporal seizures 2143 Facial clefting corpus callosum agenesis 2144 Facial ectodermal dysplasia 2145 Facies unusual arthrogryposis advanced skeletal malformations 2146 Facio digito genital syndrome recessive form 2147 Facio skeletal genital syndrome Rippberger type 2148 Facio thoraco genital syndrome 2149 Faciocardiomelic dysplasia lethal 2150 Faciocardiorenal syndrome 2151 Faciomandibular myoclonus, nocturnal 2152 Facioscapulohumeral muscular dystrophy 2153 Factor 2 deficiency 2154 Factor V deficiency 2155 Factor VII deficiency 2156 Factor X deficiency 2157 Factor XI deficiency, congenital 2158 Factor XII deficiency 2159 Factor XIII deficiency 2160 Fairbank disease 2161 Fallopian tube cancer 2162 Fallot complex with severe mental and growth retardation 2163 Familial adenomatous polyposis 2164 Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension 2165 Familial avascular necrosis of the femoral head 2166 Familial band heterotopia 2167 Familial bilateral striatal necrosis 2168 Familial capillaro-venous leptomeningeal angiomatosis 2169 Familial cold autoinflammatory syndrome 2170 Familial colorectal cancer 2171 Familial congenital fourth cranial nerve palsy 2172 Familial cylindromatosis 2173 Familial deafness 2174 Familial dermographism 2175 Familial dilated cardiomyopathy 2176 Familial dysautonomia 2177 Familial encephalopathy with neuroserpin inclusion bodies 2178 Familial eosinophilia 2179 Familial erythema nodosum 2180 Familial erythrocytosis, 1
2181 Familial exudative vitreoretinopathy 2182 Familial glucocorticoid deficiency 2183 Familial HDL deficiency 2184 Familial hemiplegic migraine 2185 Familial hemiplegic migraine type 1 2186 Familial hemiplegic migraine type 2 2187 Familial hemiplegic migraine type 3 2188 Familial hyperaldosteronism type 2 2189 Familial hyperinsulinism 2190 Familial hyperlipo-proteinemia type 1 2191 Familial hypersecretion of adrenal androgens 2192 Familial hypersensitivity pneumonitis 2193 Familial hyperthyroidism due to mutations in TSH receptor 2194 Familial hypertrophic cardiomyopathy 2195 Familial hypobetalipoproteinemia 2196 Familial hypocalciuric hypercalcemia 2197 Familial hypocalciuric hypercalcemia type 1 2198 Familial hypocalciuric hypercalcemia type 2 2199 Familial hypocalciuric hypercalcemia type 3 2200 Familial hypopituitarism 2201 Familial hypothyroidism 2202 Familial idiopathic basal ganglia calcification 2203 Familial interstitial fibrosis 2204 Familial isolated hyperparathyroidism 2205 Familial isolated pituitary adenoma 2206 Familial juvenile hyperuricaemic nephropathy 2207 Familial Mediterranean fever 2208 Familial multiple trichodiscomas 2209 Familial myelofibrosis 2210 Familial nasal acilia 2211 Familial neurocardiogenic syncope 2212 Familial opposable triphalangeal thumbs duplication 2213 Familial partial paralysis 2214 Familial periodic paralysis 2215 Familial platelet disorder with associated myeloid malignancy 2216 Familial porencephaly 2217 Familial prostate cancer 2218 Familial pulmonary arterial hypertension leucopenia and atrial septal defect 2219 Familial renal cell carcinoma
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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 and 28: 1012 Ceroid lipofuscinosis neuronal
Page 29 and 30: 1090 Chitayat Meunier Hodgkinson sy
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: 2102 Erythropoietic uroporphyria as
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
Page 85 and 86: 3281 Kohlschutter Tonz syndrome 328
Page 87 and 88: 3360 Lattice corneal dystrophy type
Page 89 and 90: hypogammaglobulinema 3439 Leukoence
Page 91 and 92: 3517 Long QT syndrome 10 3518 Long
Page 93 and 94: 3594 Mal de debarquement 3595 Malak
Page 95 and 96: 3672 Maturity-onset diabetes of the
Page 97 and 98: 3750 Mental retardation arachnodact
Page 99 and 100: 3824 Methylmalonic acidemia with ho
Page 101 and 102: 3901 Mikulicz disease 3902 Miles-Ca
Page 103 and 104: 3977 Muckle-Wells syndrome 3978 Muc
Page 105 and 106: 4055 Myasthenia gravis 4056 Myasthe
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4134 Nance-Horan syndrome 4135 Narc
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4213 Neuromyelitis optica spectrum
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4293 Nystagmus, hereditary vertical
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4372 Optic atrophy 2 4373 Optic atr
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4451 Osteopetrosis autosomal domina
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4531 Papular urticaria 4532 Paracoc
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4611 Pentosuria 4612 Penttinen-Aula
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4688 Pilotto syndrome 4689 Pineal p
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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
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5237 Sacral defect with anterior me
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5317 Seckel syndrome 5318 Secretory
Page 139 and 140:
5391 Short stature, cranial hyperos
Page 141 and 142:
5470 Spastic ataxia Charlevoix-Sagu
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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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