orphafolder

| 90041 | Gaisböck syndrome
| 90039 | Hemoglobin D disease
| 90044 | Familial pseudohyperkalemia
| 90042 | Primary familial polycythemia
| 90058 | Spinal cord injury
| 90060 | Diffuse alveolar hemorrhage
| 90059 | Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma
| 90053 | Hematopoietic stem cell transplantation
| 90056 | Moderate and severe traumatic brain injury
| 90024 | Deafness with labyrinthine aplasia, microtia, and microdontia
| 90025 | Non-syndromic syndactyly
| 90022 | Cardiomyopathy-renal anomalies syndrome
| 90023 | Primary immunodeficiency syndrome due to p14 deficiency
| 90020 | Amyotrophic lateral sclerosis-parkinsonism-dementia complex
| 90021 | Radiation myelitis
| 90002 | Undifferentiated connective tissue syndrome
| 90003 | IgG4-related hepatopathy
| 90037 | Drug-induced autoimmune hemolytic anemia
| 90038 | Typical hemolytic-uremic syndrome
| 90035 | Paroxysmal cold hemoglobinuria
| 90036 | Mixed-type autoimmune hemolytic anemia
| 90031 | Non-spherocytic hemolytic anemia due to hexokinase deficiency
| 90033 | Autoimmune hemolytic anemia, warm type
| 90026 | Primary erythromelalgia
| 90030 | Hemolytic anemia due to glutathione reductase deficiency
| 89936 | X-linked hypophosphatemia
| 89844 | Lissencephaly syndrome, Norman-Roberts type
| 89843 | Dystrophic epidermolysis bullosa pruriginosa
| 89842 | Recessive dystrophic epidermolysis bullosa, generalized intermediate
| 89841 | Centripetalis recessive dystrophic epidermolysis bullosa
| 89840 | Junctional epidermolysis bullosa, non-Herlitz type
| 89839 | Epidermolysis bullosa simplex superficialis
| 90001 | X-linked cone dysfunction syndrome with myopia
| 90000 | Erythema elevatum diutinum
| 89938 | Infantile Bartter syndrome with sensorineural deafness
| 89937 | Autosomal dominant hypophosphatemic rickets
| 90338 | Margarita island ectodermal dysplasia
| 90340 | Blau syndrome
| 90341 | Early-onset sarcoidosis
| 90342 | Xeroderma pigmentosum variant
| 90348 | Autosomal dominant cutis laxa
| 90349 | Autosomal recessive cutis laxa type 1
| 90350 | Autosomal recessive cutis laxa type 2
| 90354 | Brittle cornea syndrome
| 90362 | Primary intestinal lymphangiectasia
| 90363 | Secondary intestinal lymphangiectasia
| 90290 | CREST syndrome
| 90289 | Localized scleroderma
| 90301 | Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
| 90291 | Systemic sclerosis
| 90308 | Klippel-Trénaunay syndrome
| 90307 | Parkes Weber syndrome
| 90318 | Ehlers-Danlos syndrome type 2
| 90309 | Ehlers-Danlos syndrome type 1
| 90322 | Cockayne syndrome type 2
| 90321 | Cockayne syndrome type 1
| 90324 | Cockayne syndrome type 3
| 90156 | Centrifugal lipodystrophy
| 90157 | Drug-induced localized lipodystrophy
| 90153 | Mandibuloacral dysplasia with type A lipodystrophy
| 90154 | Mandibuloacral dysplasia with type B lipodystrophy
| 90160 | Pressure-induced localized lipoatrophy
| 90158 | Idiopathic localized lipodystrophy
| 90159 | Panniculitis-induced localized lipodystrophy
| 90280 | Chilblain lupus
| 90281 | Discoid lupus erythematosus
| 90185 | Non-hereditary late-onset primary lymphedema
| 90186 | Meige disease
| 90285 | Lupus erythematosus panniculitis
| 90282 | Hypertrophic or verrucous lupus erythematosus
| 90283 | Lupus erythematosus tumidus
| 90080 | Scarring in glaucoma filtration surgical procedures
| 90079 | Anthracycline extravasation
| 90078 | Invasive infections due to vancomycin-resistant enterococci
| 90077 | Other acquired skin disease
| 90103 | Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
| 90081 | AIDS wasting syndrome
| 90118 | Severe early-onset axonal neuropathy due to MFN2 deficiency
| 90117 | Hereditary motor and sensory neuropathy, Okinawa type
| 90114 | Autosomal dominant intermediate Charcot-Marie-Tooth disease
| 90120 | Hereditary motor and sensory neuropathy type 6
| 90119 | Hereditary motor and sensory neuropathy with acrodystrophy
| 88673 | Hepatocellular carcinoma
| 88644 | Autosomal recessive ataxia, Beauce type
| 88659 | Autosomal dominant progressive nephropathy with hypertension
| 88660 | Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
| 88661 | Amelogenesis imperfecta
| 88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
| 88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
| 88642 | Channelopathy-associated congenital insensitivity to pain
| 88643 | Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
| 88632 | Anterior segment developmental anomaly
| 88633 | Superior limbic keratoconjunctivitis
| 88635 | Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
| 88636 | Aortic dilatation-joint hypermobility-arterial tortuosity syndrome
| 88621 | Ichthyosis-prematurity syndrome
| 88628 | Posterior column ataxia-retinitis pigmentosa syndrome
| 88629 | Tritanopia
| 88630 | Terminal osseous dysplasia-pigmentary defects syndrome
| 88620 | Isolated congenital anosmia

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