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

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1444 Congenital dyserythropoietic anemia type 2 1445 Congenital dyserythropoietic anemia type 3 1446 Congenital ectodermal dysplasia with hearing loss 1447 Congenital extrahepatic portosystemic shunt 1448 Congenital fiber type disproportion 1449 Congenital generalized fibromatosis 1450 Congenital generalized lipodystrophy type 1 1451 Congenital generalized lipodystrophy type 2 1452 Congenital generalized lipodystrophy type 4 1453 Congenital giant megaureter 1454 Congenital heart block 1455 Congenital heart disease ptosis hypodontia craniostosis 1456 Congenital heart disease radio ulnar synostosis mental retardation 1457 Congenital hemolytic anemia 1458 Congenital hepatic fibrosis 1459 Congenital herpes simplex 1460 Congenital human immunodeficiency virus 1461 Congenital hypomyelination neuropathy 1462 Congenital hypothyroidism 1463 Congenital hypotrichosis milia 1464 Congenital ichthyosis, microcephalus, quadriplegia 1465 Congenital insensitivity to pain with anhidrosis 1466 Congenital lipoid adrenal hyperplasia 1467 Congenital lobar emphysema 1468 Congenital megalo-ureter 1469 Congenital mesoblastic nephroma 1470 Congenital mitral malformation 1471 Congenital mitral stenosis 1472 Congenital mixovirus 1473 Congenital mumps 1474 Congenital muscular dystrophy 1475 Congenital muscular dystrophy syringomyelia 1476 Congenital muscular dystrophy type 1A 1477 Congenital myasthenic syndrome associated with acetylcholine receptor deficiency 1478 Congenital myasthenic syndrome with episodic apnea 1479 Congenital myotonic dystrophy 1480 Congenital nephrotic syndrome Finnish type 1481 Congenital nonhemolytic jaundice
1482 Congenital nonprogressive myopathy with Moebius and Robin sequences 1483 Congenital porphyria 1484 Congenital primary aphakia 1485 Congenital pseudoarthrosis 1486 Congenital pulmonary alveolar proteinosis 1487 Congenital pulmonary lymphangiectasia 1488 Congenital radio-ulnar synostosis 1489 Congenital rubella 1490 Congenital short femur 1491 Congenital stenosis of cervical medullary canal 1492 Congenital sucrase-isomaltase deficiency 1493 Congenital sucrose isomaltose malabsorption 1494 Congenital torticollis 1495 Congenital tracheomalacia 1496 Congenital unilateral pulmonary hypoplasia 1497 Congenital vagal hyperreflexivity 1498 Congenital varicella syndrome 1499 Congenitally corrected transposition of the great arteries 1500 Conjunctival melanoma 1501 Conjunctivitis ligneous 1502 Conjunctivitis with Pseudomembrane 1503 Connective tissue dysplasia Spellacy type 1504 Conn's syndrome 1505 Conotruncal heart malformations 1506 Continuous muscle fiber activity hereditary 1507 Continuous spike-wave during slow sleep syndrome 1508 Conversion disorder 1509 Convulsions benign familial neonatal dominant form 1510 Convulsions, benign familial infantile, 1 1511 Copper deficiency, familial benign 1512 CoQ-responsive OXPHOS deficiency 1513 Cor biloculare 1514 Cor triatriatum 1515 Cormier Rustin Munnich syndrome 1516 Cornea guttata with anterior polar cataract 1517 Corneal anesthesia deafness mental retardation 1518 Corneal crystals myopathy neuropathy 1519 Corneal dystrophy and perceptive deafness 1520 Corneal dystrophy Avellino type
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 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: 1404 Congenital aplastic anemia 140
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
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
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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
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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
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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
Page 125 and 126:
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
Page 159 and 160:
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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