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

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5588 Spondylocamptodactyly 5589 Spondylocarpotarsal synostosis syndrome 5590 Spondylocostal dysostosis 1 5591 Spondylocostal dysostosis 2 5592 Spondylocostal dysostosis 3 5593 Spondylocostal dysostosis 4 5594 Spondyloenchondrodysplasia 5595 Spondyloepimetaphyseal dysplasia Genevieve type 5596 Spondyloepimetaphyseal dysplasia joint laxity 5597 Spondyloepimetaphyseal dysplasia Matrilin-3 related 5598 Spondyloepimetaphyseal dysplasia micromelic 5599 Spondyloepimetaphyseal dysplasia Missouri type 5600 Spondyloepimetaphyseal dysplasia Shohat type 5601 Spondyloepimetaphyseal dysplasia Sponastrime type 5602 Spondyloepimetaphyseal dysplasia Strudwick type 5603 Spondyloepimetaphyseal dysplasia with hypotrichosis 5604 Spondyloepimetaphyseal dysplasia with multiple dislocations 5605 Spondyloepimetaphyseal dysplasia X-linked 5606 Spondyloepimetaphyseal dysplasia x-linked with mental deterioration 5607 Spondyloepimetaphyseal dysplasia, Aggrecan type 5608 Spondyloepiphyseal dysplasia 5609 Spondyloepiphyseal dysplasia congenita 5610 Spondyloepiphyseal dysplasia Maroteaux type 5611 Spondyloepiphyseal dysplasia Omani type 5612 Spondyloepiphyseal dysplasia tarda autosomal dominant 5613 Spondyloepiphyseal dysplasia tarda Toledo type 5614 Spondyloepiphyseal dysplasia tarda X-linked 5615 Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 5616 Spondylohypoplasia, arthrogryposis and popliteal pterygium 5617 Spondylometaepiphyseal dysplasia short limb-hand type 5618 Spondylometaphyseal dysplasia Algerian type 5619 Spondylometaphyseal dysplasia corner fracture type 5620 Spondylometaphyseal dysplasia East-African type 5621 Spondylometaphyseal dysplasia Kozlowski type 5622 Spondylometaphyseal dysplasia Sedaghatian type 5623 Spondylometaphyseal dysplasia type A4 5624 Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
5625 Spondylometaphyseal dysplasia with cone-rod dystrophy 5626 Spondylometaphyseal dysplasia with dentinogenesis imperfecta 5627 Spondylometaphyseal dysplasia X-linked 5628 Spondyloperipheral dysplasia 5629 Spondylospinal thoracic dysostosis 5630 Spondylothoracic dysostosis 5631 Spontaneous coronary artery dissection 5632 Spontaneous pneumothorax familial type 5633 Sporotrichosis 5634 Spotted fever 5635 Spranger Schinzel Myers syndrome 5636 Sprengel deformity 5637 Squamous cell carcinoma of the head and neck 5638 St Anthony's fire 5639 Stachybotrys chartarum 5640 Stalker Chitayat syndrome 5641 Stampe sorensen syndrome 5642 Staphylococcal food poisoning 5643 Staphylococcal toxic shock syndrome 5644 STAR syndrome 5645 Stargardt disease 5646 Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features 5647 Status epilepticus 5648 Steatocystoma multiplex 5649 Steatocystoma multiplex with natal teeth 5650 Steinfeld syndrome 5651 Stenotrophomonas maltophilia 5652 Sterility due to immotile flagella 5653 Sternal cleft 5654 Sternal cyst vascular anomalies 5655 Sternal malformation vascular dysplasia associatio 5656 Steroid dehydrogenase deficiency dental anomalies 5657 Stevens-Johnson syndrome 5658 Stewart Treves syndrome 5659 Stickler syndrome 5660 Stickler syndrome type 1 5661 Stickler syndrome, type 2 5662 Stickler syndrome, type 3 5663 Stiff person syndrome
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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
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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
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1012 Ceroid lipofuscinosis neuronal
Page 29 and 30:
1090 Chitayat Meunier Hodgkinson sy
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1170 Chromosome 16p deletion 1171 C
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1249 Chronic atypical neutrophilic
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1325 Cochleosaccular degeneration o
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1404 Congenital aplastic anemia 140
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1482 Congenital nonprogressive myop
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1561 Cranioacrofacial syndrome 1562
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1641 Cutis laxa, autosomal recessiv
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1713 Deafness, autosomal dominant n
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1790 Diamond-Blackfan anemia 2 1791
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1868 Duane syndrome 1869 Duane synd
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1946 EAF 1947 Eagle syndrome 1948 E
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2024 Endocardial fibroelastosis 202
Page 55 and 56:
2102 Erythropoietic uroporphyria as
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2181 Familial exudative vitreoretin
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2260 Fetal brain disruption sequenc
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2338 Frank Ter Haar syndrome 2339 F
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2418 Gay Feinmesser Cohen syndrome
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2497 Glucocorticoid resistance 2498
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2577 Gray platelet syndrome 2578 Gr
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2656 Hemicrania continua 2657 Hemif
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2734 Hereditary nodular heterotopia
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2814 Horner's syndrome 2815 Horsesh
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2894 Hyperlipoproteinemia type 4 28
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2970 Hypopituitarism postaxial poly
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3045 Immune dysfunction with T-cell
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3121 Intravascular papillary endoth
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3201 Juvenile Scleroderma 3202 Juve
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3281 Kohlschutter Tonz syndrome 328
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3360 Lattice corneal dystrophy type
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hypogammaglobulinema 3439 Leukoence
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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
Page 107 and 108: 4134 Nance-Horan syndrome 4135 Narc
Page 109 and 110: 4213 Neuromyelitis optica spectrum
Page 111 and 112: 4293 Nystagmus, hereditary vertical
Page 113 and 114: 4372 Optic atrophy 2 4373 Optic atr
Page 115 and 116: 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
Page 125 and 126: 4844 Primary pigmented nodular adre
Page 127 and 128: 4923 Pseudopelade of Brocq 4924 Pse
Page 129 and 130: 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: 5549 Spinocerebellar ataxia 27 5550
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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