commit 6eb274384f0c4cd30cc83f08ce097956913930ce Author: davidlagorce Date: Wed Dec 4 08:42:13 2024 +0100 DEC 2024 diff --git a/Rare diseases and classifications/Classifications of rare diseases/en_product3_233.xml b/Rare diseases and classifications/Classifications of rare diseases/en_product3_233.xml index 142ab5a..82f278e 100644 --- a/Rare diseases and classifications/Classifications of rare diseases/en_product3_233.xml +++ b/Rare diseases and classifications/Classifications of rare diseases/en_product3_233.xml @@ -1,5 +1,5 @@ - + Creative Commons Attribution 4.0 International @@ -1693,7 +1693,7 @@ Category - + 1926 @@ -1718,18 +1718,6 @@ - - - 57777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57777 - Cirrhotic cardiomyopathy - - Disease - - - - - @@ -3051,7 +3039,55 @@ Disease - + + + + 687733 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687733 + Pulmonary Langerhans cell histiocytosis + + Clinical subtype + + + + + + + + 687741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687741 + Multisystem Langerhans cell histiocytosis + + Clinical subtype + + + + + + + + 687738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687738 + Single-system multifocal Langerhans cell histiocytosis + + Clinical subtype + + + + + + + + 687730 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687730 + Unifocal Langerhans cell histiocytosis + + Clinical subtype + + + + + @@ -4851,7 +4887,7 @@ Category - + 881 @@ -4866,7 +4902,7 @@ 99226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X + Monosomy X syndrome Etiological subtype @@ -4878,7 +4914,7 @@ 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X + Mosaic monosomy X syndrome Etiological subtype @@ -5444,7 +5480,7 @@ 3380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 - Trisomy 18 + Trisomy 18 syndrome Malformation syndrome @@ -5744,7 +5780,7 @@ 3378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 - Trisomy 13 + Trisomy 13 syndrome Malformation syndrome @@ -5836,6 +5872,18 @@ + + + 689822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689822 + Structural heart defects-renal anomalies syndrome + + Malformation syndrome + + + + + @@ -8065,7 +8113,7 @@ Category - + 567556 @@ -8738,6 +8786,18 @@ + + + 86818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818 + Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome + + Disease + + + + + @@ -8764,7 +8824,7 @@ 656 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656 - Genetic steroid-resistant nephrotic syndrome + Hereditary steroid-resistant nephrotic syndrome Disease @@ -11166,7 +11226,7 @@ 1590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590 - Distal deletion 13q + Distal deletion 13q syndrome Malformation syndrome @@ -11202,7 +11262,7 @@ 96185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96185 - Maternal uniparental disomy of chromosome 16 + Maternal uniparental disomy of chromosome 16 syndrome Malformation syndrome @@ -11442,7 +11502,7 @@ 3378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 - Trisomy 13 + Trisomy 13 syndrome Malformation syndrome @@ -11514,7 +11574,7 @@ 3380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 - Trisomy 18 + Trisomy 18 syndrome Malformation syndrome @@ -11526,7 +11586,7 @@ 884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 - Tetrasomy 12p + Tetrasomy 12p syndrome Malformation syndrome @@ -11905,19 +11965,7 @@ Category - - - - 171220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171220 - Rectal duplication - - Morphological anomaly - - - - - + 2300 @@ -12004,7 +12052,7 @@ 662480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662480 - Jujeno-ileal duplication + Jejuno-ileal duplication Clinical subtype @@ -13923,7 +13971,7 @@ Category - + 619948 @@ -13948,6 +13996,18 @@ + + + 688594 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688594 + Combined immunodeficiency due to RELB deficiency + + Disease + + + + + 3261 @@ -14187,7 +14247,7 @@ Category - + 99812 @@ -14272,18 +14332,6 @@ - - - 447737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737 - Combined immunodeficiency due to DOCK2 deficiency - - Disease - - - - - 464336 @@ -14320,18 +14368,6 @@ - - - 397964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964 - Combined immunodeficiency due to MALT1 deficiency - - Disease - - - - - 760 @@ -14392,6 +14428,150 @@ + + + 688571 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688571 + Combined immunodeficiency with low immunoglobulins + + Clinical group + + + + + + 397787 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787 + Combined immunodeficiency due to IKK2 deficiency + + Disease + + + + + + + + 183663 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183663 + Hyper-IgM syndrome with susceptibility to opportunistic infections + + Disease + + + + + + 101088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088 + X-linked hyper-IgM syndrome + + Clinical subtype + + + + + + + + 101090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090 + Hyper-IgM syndrome type 3 + + Clinical subtype + + + + + + + + + + 447737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737 + Combined immunodeficiency due to DOCK2 deficiency + + Disease + + + + + + + + 357237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237 + Combined immunodeficiency due to CARD11 deficiency + + Disease + + + + + + + + 476113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113 + Combined immunodeficiency due to TFRC deficiency + + Disease + + + + + + + + 357329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329 + Combined immunodeficiency due to IL21R deficiency + + Disease + + + + + + + + + + 688563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688563 + Combined immunodeficiency with normal Ig and poor specific antibody response + + Clinical group + + + + + + 397964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964 + Combined immunodeficiency due to MALT1 deficiency + + Disease + + + + + + + + 688594 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688594 + Combined immunodeficiency due to RELB deficiency + + Disease + + + + + + + 238505 @@ -14416,18 +14596,6 @@ - - - 476113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113 - Combined immunodeficiency due to TFRC deficiency - - Disease - - - - - 217390 @@ -14440,18 +14608,6 @@ - - - 357329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329 - Combined immunodeficiency due to IL21R deficiency - - Disease - - - - - 34592 @@ -14476,42 +14632,6 @@ - - - 183663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183663 - Hyper-IgM syndrome with susceptibility to opportunistic infections - - Disease - - - - - - 101088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088 - X-linked hyper-IgM syndrome - - Clinical subtype - - - - - - - - 101090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090 - Hyper-IgM syndrome type 3 - - Clinical subtype - - - - - - - 504530 @@ -14665,7 +14785,7 @@ Clinical group - + 280142 @@ -14726,6 +14846,18 @@ + + + 688543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688543 + Reticular dysgenesis-like severe combined immunodeficiency + + Disease + + + + + 277 @@ -14881,19 +15013,7 @@ Clinical group - - - - 397787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787 - Severe combined immunodeficiency due to IKK2 deficiency - - Disease - - - - - + 420573 @@ -14906,18 +15026,6 @@ - - - 357237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237 - Combined immunodeficiency due to CARD11 deficiency - - Disease - - - - - @@ -17337,7 +17445,55 @@ Disease - + + + + 687733 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687733 + Pulmonary Langerhans cell histiocytosis + + Clinical subtype + + + + + + + + 687741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687741 + Multisystem Langerhans cell histiocytosis + + Clinical subtype + + + + + + + + 687738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687738 + Single-system multifocal Langerhans cell histiocytosis + + Clinical subtype + + + + + + + + 687730 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687730 + Unifocal Langerhans cell histiocytosis + + Clinical subtype + + + + + @@ -19815,54 +19971,30 @@ 31740 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31740 Hypersensitivity pneumonitis - - Clinical group + + Disease - - 99909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99909 - Occupational allergic alveolitis - - Clinical group + + 686462 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686462 + Non-fibrotic hypersensitivity pneumonitis + + Clinical subtype - - - - 99908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99908 - Pigeon-breeder lung disease - - Disease - - - - - - - - 99906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99906 - Farmer's lung disease - - Disease - - - - - + - - 99907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99907 - House allergic alveolitis - - Disease + + 686465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686465 + Fibrotic hypersensitivity pneumonitis + + Clinical subtype @@ -20351,10 +20483,10 @@ - - 306504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 - Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome + + 685082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685082 + Pediatric acute respiratory distress syndrome Disease @@ -20363,10 +20495,10 @@ - - 70587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70587 - Infant acute respiratory distress syndrome + + 306504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 + Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome Disease @@ -20424,7 +20556,7 @@ 217563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563 - Neonatal acute respiratory distress due to SP-B deficiency + Neonatal acute respiratory distress syndrome Disease @@ -20534,7 +20666,7 @@ 662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662 - Yellow nail syndrome + Lymphedema with yellow nails Disease