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| 94150 | Anonychia congenita totalis
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| 94064 | Deafness-infertility syndrome
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| 94063 | 12q14 microdeletion syndrome
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| 94066 | Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
-
| 94065 | 15q24 microdeletion syndrome
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| 94068 | Spondyloepiphyseal dysplasia congenita
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| 94075 | Severe immune-mediated enteropathy
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| 94083 | Partington syndrome
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| 94080 | Non-functioning paraganglioma
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| 94086 | Blue diaper syndrome
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| 94084 | Cerebro-oculo-facial-lymphatic syndrome
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| 94088 | Hereditary renal hypouricemia
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| 94087 | Cytophagic histiocytic panniculitis
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| 94090 | Pseudohypoparathyroidism type 2
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| 94089 | Pseudohypoparathyroidism type 1B
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| 96175 | Ring chromosome 11 syndrome
-
| 96173 | Ring chromosome 9 syndrome
-
| 96172 | Ring chromosome 3 syndrome
-
| 96171 | Ring chromosome 2 syndrome
-
| 96170 | Emanuel syndrome
-
| 96169 | Koolen-De Vries syndrome
-
| 96168 | Monosomy 13q34
-
| 96167 | Recombinant 8 syndrome
-
| 96164 | Non-distal monosomy 20q
-
| 96160 | Non-distal monosomy 12q
-
| 96152 | Distal monosomy 20q
-
| 96150 | Distal monosomy 14q
-
| 96148 | Distal monosomy 10q
-
| 96149 | Distal monosomy 12q
-
| 96147 | Kleefstra syndrome due to 9q34 microdeletion
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| 96145 | Distal monosomy 4q
-
| 96136 | Non-distal monosomy 7p
-
| 96129 | Distal monosomy 19p13.3
-
| 96125 | Distal monosomy 6p
-
| 96126 | Distal monosomy 7p
-
| 96121 | 7q11.23 microduplication syndrome
-
| 96123 | Monosomy 22
-
| 96112 | Non-distal trisomy 9q
-
| 96107 | Distal trisomy 20q
-
| 96106 | Distal trisomy 16q
-
| 96105 | Distal trisomy 13q
-
| 96109 | Distal trisomy 22q
-
| 96098 | Distal trisomy 6q
-
| 96097 | Distal trisomy 5q
-
| 96096 | Distal trisomy 4q
-
| 96103 | Distal trisomy 11q
-
| 96102 | Distal trisomy 10q
-
| 96101 | Distal trisomy 9q
-
| 96100 | Distal trisomy 8q
-
| 96094 | Distal trisomy 2q
-
| 96095 | 3q26 microduplication syndrome
-
| 96092 | 8p inverted duplication/deletion syndrome
-
| 96072 | 4p16.3 microduplication syndrome
-
| 96074 | Distal trisomy 7p
-
| 96076 | Beckwith-Wiedemann syndrome due to 11p15 microduplication
-
| 96078 | 16p13.3 microduplication syndrome
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| 96069 | Distal trisomy 1p36
-
| 96068 | Mosaic trisomy 22
-
| 96071 | Distal trisomy 3p
-
| 96070 | Distal trisomy 2p
-
| 96059 | Mosaic trisomy 4
-
| 96060 | Mosaic trisomy 5
-
| 96061 | Mosaic trisomy 8
-
| 96063 | Mosaic trisomy 10
-
| 95717 | Idiopathic congenital hypothyroidism
-
| 95718 | Congenital thyroid malformation without hypothyroidism
-
| 95719 | Thyroid hemiagenesis
-
| 95720 | Thyroid hypoplasia
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| 95854 | Levocardia
-
| 96055 | Tetrasomy 21
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| 93547 | Syndromic renal or urinary tract malformation
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| 93546 | Non-syndromic renal or urinary tract malformation
-
| 93548 | Glomerular disease
-
| 93545 | Renal or urinary tract malformation
-
| 93555 | Mixed cryoglobulinemia type III
-
| 93554 | Type II mixed cryoglobulinemia
-
| 93557 | Light and heavy chain deposition disease
-
| 93556 | Heavy chain deposition disease
-
| 93551 | Secondary glomerular disease
-
| 93550 | Basement membrane disease
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| 93552 | Pediatric systemic lupus erythematosus
-
| 93562 | AFib amyloidosis
-
| 93558 | Light chain deposition disease
-
| 93559 | C3 deposition glomerulonephritis without proliferation
-
| 93560 | AApoAI amyloidosis
-
| 93561 | ALys amyloidosis
-
| 93571 | Dense deposit disease
-
| 93573 | Thrombotic microangiopathy
-
| 93568 | Juvenile polymyositis
-
| 93569 | Polymyalgia rheumatica
-
| 93448 | Lysosomal storage disease with skeletal involvement
-
| 93447 | Primary bone dysplasia with defective bone mineralization
-
| 93446 | Primary bone dysplasia with decreased bone density
-
| 93444 | Primary bone dysplasia with increased bone density
-
| 93443 | Neonatal osteosclerotic dysplasia
-
| 93442 | Chondrodysplasia punctata
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| 93441 | Primary bone dysplasia with multiple joint dislocations
-
| 93455 | Patellar dysostosis
-
| 93454 | Dysostosis with predominant vertebral and costal involvement
-
| 93453 | Dysostosis with predominant craniofacial involvement
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