-
| 93451 | Cleidocranial dysplasia and isolated cranial ossification defect
-
| 93450 | Primary bone dysplasia with disorganized development of skeletal components
-
| 93449 | Primary osteolysis
-
| 93465 | Lethal chondrodysplasia
-
| 93461 | Chromosomal disease with overgrowth
-
| 93459 | Syndrome with synostosis or other joint formation defect
-
| 93460 | Overgrowth syndrome
-
| 93457 | Non-syndromic limb reduction defect
-
| 93458 | Non-syndromic polydactyly, syndactyly and/or hyperphalangy
-
| 93474 | Scheie syndrome
-
| 93476 | Hurler-Scheie syndrome
-
| 93473 | Hurler syndrome
-
| 93399 | Juvenile sialidosis type 2
-
| 93398 | Genochondromatosis type 2
-
| 93400 | Congenital sialidosis type 2
-
| 93403 | Syndactyly type 2
-
| 93402 | Syndactyly type 1
-
| 93405 | Syndactyly type 4
-
| 93404 | Syndactyly type 3
-
| 93406 | Syndactyly type 5
-
| 93409 | Brachydactyly-syndactyly, Zhao type
-
| 93419 | Rare bone disease
-
| 93421 | Type 2 collagen-related bone disorder
-
| 93420 | FGFR3-related chondrodysplasia
-
| 93422 | Type 11 collagen-related bone disorder
-
| 93423 | Sulfation-related bone disorder
-
| 93424 | Perlecan-related bone disorder
-
| 93425 | Filamin-related bone disorder
-
| 93426 | Ciliopathies with major skeletal involvement
-
| 93429 | Multiple epiphyseal dysplasia and pseudoachondroplasia
-
| 93430 | Multiple metaphyseal dysplasia
-
| 93434 | Spondylodysplastic dysplasia
-
| 93436 | Acromelic dysplasia
-
| 93437 | Acromesomelic dysplasia
-
| 93438 | Mesomelic and rhizo-mesomelic dysplasia
-
| 93439 | Campomelic dysplasia and related disorders
-
| 93440 | Slender bone dysplasia
-
| 93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations
-
| 93359 | Spondyloepimetaphyseal dysplasia with joint laxity
-
| 93358 | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
| 93357 | SPONASTRIME dysplasia
-
| 93372 | Familial hypocalciuric hypercalcemia type 1
-
| 93382 | Brachydactyly type A6
-
| 93383 | Brachydactyly type B
-
| 93387 | Brachydactyly type E
-
| 93388 | Brachydactyly type A1
-
| 93384 | Brachydactyly type C
-
| 93389 | Brachydactyly type A5
-
| 93396 | Brachydactyly type A2
-
| 93397 | Brachydactyly type A7
-
| 93394 | Brachydactyly type A4
-
| 93395 | Ballard syndrome
-
| 93968 | Meningocele
-
| 93969 | Myelomeningocele
-
| 93964 | Blepharospasm-oromandibular dystonia syndrome
-
| 93958 | Oromandibular dystonia
-
| 94059 | Uremic pruritus
-
| 94058 | Neovascular glaucoma
-
| 94056 | Humero-ulnar synostosis
-
| 93975 | Renier-Gabreels-Jasper syndrome
-
| 93974 | Smith-Fineman-Myers syndrome
-
| 93976 | Anotia
-
| 93971 | Chudley-Lowry-Hoar syndrome
-
| 93970 | Holmes-Gang syndrome
-
| 93973 | Carpenter-Waziri syndrome
-
| 93972 | Juberg-Marsidi syndrome
-
| 93932 | FG syndrome type 1
-
| 93930 | Bladder exstrophy
-
| 93928 | Isolated epispadias
-
| 93929 | Cloacal exstrophy
-
| 93926 | Midline interhemispheric variant of holoprosencephaly
-
| 93924 | Lobar holoprosencephaly
-
| 93925 | Alobar holoprosencephaly
-
| 93921 | Neurofibromatosis type 3
-
| 93953 | Familial thyroglossal duct cyst
-
| 93952 | X-linked intellectual disability, Hedera type
-
| 93951 | X-linked dominant intellectual disability-epilepsy syndrome
-
| 93950 | X-linked intellectual disability, Sutherland-Haan type
-
| 93947 | X-linked intellectual disability, Golabi-Ito-Hall type
-
| 93946 | Hamel cerebro-palato-cardiac syndrome
-
| 93945 | X-linked intellectual disability, Porteous type
-
| 93944 | X-linked intellectual disability, Fichera type
-
| 93943 | Corpus callosum dysgenesis-hypopituitarism syndrome
-
| 93942 | Superior celosomia
-
| 93941 | Laryngotracheoesophageal cleft type 4
-
| 93940 | Laryngotracheoesophageal cleft type 3
-
| 93939 | Laryngotracheoesophageal cleft type 2
-
| 93938 | Laryngotracheoesophageal cleft type 1
-
| 93626 | Rare renal disease
-
| 93665 | Autoinflammatory syndrome
-
| 93616 | Hemoglobin H disease
-
| 93618 | Rare cause of hypertension
-
| 93619 | Rare renal tumor
-
| 93622 | Dent disease type 1
-
| 93623 | Dent disease type 2
-
| 93682 | Pediatric Castleman disease
-
| 93672 | Juvenile dermatomyositis
-
| 93686 | Multicentric Castleman disease
-
| 93685 | Localized Castleman disease
-
| 93890 | Rare developmental defect during embryogenesis
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