MCID: HML001
MIFTS: 50

Hemolytic-Uremic Syndrome

Categories: Rare diseases, Immune diseases, Blood diseases, Nephrological diseases

Aliases & Classifications for Hemolytic-Uremic Syndrome

MalaCards integrated aliases for Hemolytic-Uremic Syndrome:

Name: Hemolytic-Uremic Syndrome 12 72 51 41 14 69
Hemolytic Uremic Syndrome 12 49 28
Acute Renal Failure, Thrombocytopenia, and Microangiopathic Hemolytic Anemia Associated with Distorted Erythrocytes 49
Haemolytic-Uraemic Syndrome 12
Hus 49

Classifications:



External Ids:

Disease Ontology 12 DOID:12554
ICD10 32 D59.3
ICD9CM 34 283.11
MeSH 41 D006463
NCIt 46 C75545
SNOMED-CT 64 111407006 123308008
UMLS 69 C0019061

Summaries for Hemolytic-Uremic Syndrome

NIH Rare Diseases : 49 Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an  E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. Symptoms include vomiting and diarrhea, fever, lethargy, and weakness. In severe cases it can lead to kidney failure or death. While this condition is most common in children, it often has a more complicated presentation in adults. Treatment may include dialysis, corticosteroids, transfusions of packed red blood cells and plasmapheresis.   Hemolytic uremic syndrome should be distinguished from atypical hemolytic uremic syndrome (aHUS). The two conditions have different causes and different signs and symptoms. Last updated: 1/3/2015

MalaCards based summary : Hemolytic-Uremic Syndrome, also known as hemolytic uremic syndrome, is related to nephrotic syndrome, type 7 and hemolytic uremic syndrome, atypical 1. An important gene associated with Hemolytic-Uremic Syndrome is CFH (Complement Factor H), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement Pathway. The drugs Complement System Proteins and Shiga Toxins have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and liver, and related phenotype is renal/urinary system.

Wikipedia : 72 Hemolytic-uremic syndrome (HUS) is a disease characterized by a triad of hemolytic anemia (anemia caused... more...

Related Diseases for Hemolytic-Uremic Syndrome

Diseases in the Hemolytic-Uremic Syndrome family:

D-Plus Hemolytic Uremic Syndrome

Diseases related to Hemolytic-Uremic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 7 33.7 CFH DGKE
2 hemolytic uremic syndrome, atypical 1 32.8 CFH CFHR1 CFHR3 CFHR4 CFHR5 DGKE
3 complement factor h deficiency 32.6 CD46 CFH CFHR1 CFI
4 purpura 31.0 ADAMTS13 THBD VWF
5 glomerulonephritis 30.7 C3 CFH CFHR5 CFI
6 thrombotic thrombocytopenic purpura 30.5 ADAMTS13 CD46 CFH THBD VWF
7 thrombotic thrombocytopenic purpura, congenital 30.5 ADAMTS13 CFH
8 membranoproliferative glomerulonephritis 30.5 C3 CD46 CFH CFHR5
9 hemolytic anemia 30.3 ADAMTS13 CFH CFI
10 proliferative glomerulonephritis 30.2 C3 CFH
11 catastrophic antiphospholipid syndrome 30.2 ADAMTS13 CFH
12 c3 glomerulopathy 29.6 C3 CFB CFHR1 CFHR3 CFHR5
13 hellp syndrome 29.3 ADAMTS13 CD46 CFH CFI THBD VWF
14 systemic lupus erythematosus 28.7 ADAMTS13 C3 C5 CFB THBD VWF
15 macular degeneration, age-related, 1 27.8 C3 CD46 CFB CFH CFHR1 CFHR3
16 hemolytic uremic syndrome, atypical 3 12.6
17 hemolytic uremic syndrome, atypical 4 12.6
18 hemolytic uremic syndrome, atypical 5 12.6
19 hemolytic uremic syndrome, atypical 6 12.6
20 hemolytic uremic syndrome, atypical 2 12.6
21 hemolytic uremic syndrome, atypical, childhood 12.5
22 genetic atypical hemolytic-uremic syndrome 12.4
23 d-minus hemolytic uremic syndrome 12.2
24 d-plus hemolytic uremic syndrome 12.2
25 atypical hemolytic-uremic syndrome with h factor anomaly 12.2
26 shigellosis 11.6
27 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 11.2
28 pancreatitis, pediatric 11.2
29 diarrhea 10.6
30 pneumonia 10.5
31 de novo thrombotic microangiopathy after kidney transplantation 10.5 CFH CFI
32 familial drusen 10.5 CFH CFI
33 endotheliitis 10.4
34 multifocal choroiditis 10.4 CFB CFH
35 choroiditis 10.4 CFB CFH
36 complement component 3 deficiency 10.4 C3 CFI
37 complement factor i deficiency 10.4 C3 CFI
38 pancreatitis 10.3
39 encephalopathy 10.3
40 methylmalonic aciduria and homocystinuria, cblc type 10.3 CD46 DGKE
41 retinal drusen 10.3 C3 CFB CFH
42 neisseria meningitidis infection 10.3 C3 CD46
43 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
44 anuria 10.3
45 influenza 10.3
46 unilateral absence of a pulmonary artery 10.3 THBD VWF
47 lyme disease 10.2 C3 CFH CFHR1
48 aging 10.2
49 colitis 10.2
50 malignant hypertension 10.2

Comorbidity relations with Hemolytic-Uremic Syndrome via Phenotypic Disease Network (PDN):


Acute Kidney Failure Chronic Kidney Failure
Deficiency Anemia Heart Disease

Graphical network of the top 20 diseases related to Hemolytic-Uremic Syndrome:



Diseases related to Hemolytic-Uremic Syndrome

Symptoms & Phenotypes for Hemolytic-Uremic Syndrome

MGI Mouse Phenotypes related to Hemolytic-Uremic Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.1 C3 C5 CFB CFH CFI THBD

Drugs & Therapeutics for Hemolytic-Uremic Syndrome

Drugs for Hemolytic-Uremic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Complement System Proteins Phase 2, Phase 3
2 Shiga Toxins Phase 2, Phase 3, Phase 1
3 Antibodies Phase 3,Phase 2
4 Immunoglobulins Phase 3,Phase 2
5 Pharmaceutical Solutions Phase 3,Phase 1
6 Complement Inactivating Agents Phase 3
7
Acetaminophen Approved Phase 2 103-90-2 1983
8
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
9
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
10
Promethazine Approved, Investigational Phase 2 60-87-7 4927
11
rituximab Approved Phase 2 174722-31-7 10201696
12 Antirheumatic Agents Phase 2
13 Antibodies, Monoclonal Phase 2
14
Metoclopramide Approved, Investigational 364-62-5 4168
15 dipyrone
16 Natriuretic Agents
17 Natriuretic Peptide, Brain
18 Antibodies, Blocking
19 Immunotoxins

Interventional clinical trials:

(show all 39)

# Name Status NCT ID Phase Drugs
1 Study Assessing an Algorithm-based Strategy of Eculizumab Discontinuation in Children and Adults With aHUS Active, not recruiting NCT02574403 Phase 4 eculizumab
2 Eval. of Potential Predictors of Disease Progression in Patients With aHUS Including Genetics, Biomarkers and Treatment Active, not recruiting NCT02614898 Phase 4
3 Safety and Efficacy Study of Eculizumab in Shiga-Toxin Producing Escherichia Coli Hemolytic-Uremic Syndrome (STEC-HUS) Completed NCT01410916 Phase 2, Phase 3 Eculizumab (Soliris®)
4 Safety and Efficacy Study of OMS721 in Patients With Atypical Hemolytic Uremic Syndrome Recruiting NCT03205995 Phase 3
5 Study of ALXN1210 in Children and Adolescents With Atypical Hemolytic Uremic Syndrome (aHUS) Recruiting NCT03131219 Phase 3
6 Single Arm Study of ALXN1210 in Complement Inhibitor Treatment-Naïve Adult and Adolescent Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Recruiting NCT02949128 Phase 3
7 Eculizumab in Shiga-toxin Related Hemolytic and Uremic Syndrome Pediatric Patients - ECULISHU Recruiting NCT02205541 Phase 3 Eculizumab;Placebo
8 Improvements Through the Use of a Rapid Multiplex PCR Enteric Pathogen Detection Kit in Children With Hematochezia Not yet recruiting NCT03362970 Phase 3
9 Phase III Randomized Study of SYNSORB Pk in Children With E. Coli-Associated Hemolytic Uremic Syndrome Terminated NCT00004465 Phase 3 SYNSORB Pk;Placebo
10 The Plasma Large-Volume Exchange RCT Withdrawn NCT01433003 Phase 3
11 Rituximab in Patients With Relapsed or Refractory TTP-HUS Unknown status NCT00531089 Phase 2 Rituximab
12 An Open-label, Multi-center Clinical Trial of Eculizumab in Adult Patients With Atypical Hemolytic-uremic Syndrome Completed NCT01194973 Phase 2 Eculizumab
13 An Open-Label, Multi-Center Clinical Trial of Eculizumab in Pediatric Patients With Atypical Hemolytic-Uremic Syndrome Completed NCT01193348 Phase 2 Eculizumab
14 Open Label Controlled Trial of Eculizumab in Adult Patients With Plasma Therapy-sensitive Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT00838513 Phase 2 eculizumab
15 Open Label Controlled Trial of Eculizumab in Adult Patients With Plasma Therapy-Resistant aHUS Completed NCT00844545 Phase 2 Eculizumab
16 Open Label Controlled Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Resistant aHUS Completed NCT00844844 Phase 2 Eculizumab
17 Open Label Controlled Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Sensitive aHUS Completed NCT00844428 Phase 2 eculizumab
18 The Safety and Efficacy of Eculizumab in Japanese Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT01757431 Phase 2 Eculizumab
19 Study of Chimeric Monoclonal Antibodies to Shiga Toxins 1 and 2 Completed NCT01252199 Phase 2 cαStx1/cαStx2;Placebo
20 A Study of an Investigational Drug, Cemdisiran (ALN-CC5), in Patients With Atypical Hemolytic Uremic Syndrome Recruiting NCT03303313 Phase 2 Cemdisiran
21 Safety and Efficacy Study of OMS721 in Patients With Thrombotic Microangiopathies Recruiting NCT02222545 Phase 2
22 Complement Inhibition in aHUS Dialysis Patients Terminated NCT02464891 Phase 2 CCX168
23 Shiga Toxin Producing Escherichia Coli (STEC) Volume Expansion Not yet recruiting NCT03275792 Phase 1 D5-0.9%NS;Routine home oral rehydration
24 Complement Activation During Hemodialysis in Atypical Hemolytic Uraemic Syndrome as Underlying Kidney Disease Unknown status NCT00930423
25 Outbreak of Hemolytic Uremic Syndrome Linked to Escherichia Coli of Serotype O104:H4 Completed NCT01406288
26 A Retrospective, Observational, Non-interventional Trial to Assess Eculizumab Treatment Effect in Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT01770951
27 Haemolytic Uraemic Syndrome in Childhood: Clinical, Cognitive and Psychological Aspects Completed NCT01666548
28 To Characterize the Safety and Tolerability of Eculizumab in Two Japanese aHUS Patients Completed NCT01755429
29 Study of Repetitive Intestinal Lavage in Patients With EHEC Associated Hemorrhagic Colitis Completed NCT01561248 polyethylene glycol solution for daily bowel lavage.
30 The Role of Endothelium Dysfunction in Progression of CKD (Chronic Kidney Disease) After AKI (Acute Kidney Injury) Completed NCT00358306
31 Promising Bimarker Prediction of Outcome of HELLP Syndrome. Completed NCT03246542
32 Early Predictive Factors of Cardiac and Cerebral Involvement in TMA Completed NCT02134171
33 Atypcial Hemolytic-Uremic Syndrome (aHUS) Registry Recruiting NCT01522183
34 Study of 'Vascular Competence' Profile and Endothelial Activation in the Hemolytic Uremic Syndrome in Children and Adults Recruiting NCT02904863
35 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
36 Collection of Human Samples to Study Hairy Cell and Other Leukemias, and to Develop Recombinant Immunotoxins for Cancer Treatment Recruiting NCT01087333
37 The Role of Microparticles as a Biomarker Enrolling by invitation NCT02626663
38 aHUS Observational Long Term Follow-Up Terminated NCT01522170
39 International Registry and Biorepository for TMA(Thrombotic Microangiopathy) Terminated NCT00593229

Search NIH Clinical Center for Hemolytic-Uremic Syndrome

Cochrane evidence based reviews: hemolytic-uremic syndrome

Genetic Tests for Hemolytic-Uremic Syndrome

Genetic tests related to Hemolytic-Uremic Syndrome:

# Genetic test Affiliating Genes
1 Hemolytic Uremic Syndrome 28

Anatomical Context for Hemolytic-Uremic Syndrome

MalaCards organs/tissues related to Hemolytic-Uremic Syndrome:

38
Kidney, Endothelial, Liver, Brain, Lung, Monocytes, Heart

Publications for Hemolytic-Uremic Syndrome

Articles related to Hemolytic-Uremic Syndrome:

(show top 50) (show all 890)
# Title Authors Year
1
Atypical hemolytic uremic syndrome: An unusual postoperative complication. ( 29426622 )
2018
2
Kidney Transplantation in Patients with Atypical Hemolytic Uremic Syndrome due to Complement Factor H Deficiency: Impact of Liver Transplantation. ( 29215813 )
2018
3
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. ( 29294253 )
2018
4
Atypical Presentation of Pregnancy-Related Hemolytic Uremic Syndrome. ( 29331477 )
2018
5
Pathogenic role of inflammatory response during Shiga toxin-associated hemolytic uremic syndrome (HUS). ( 29372302 )
2018
6
Is eculizumab efficacious in Shigatoxin-associated hemolytic uremic syndrome? A narrative review of current evidence. ( 29288280 )
2018
7
CCR2-dependent Gr1high monocytes promote kidney injury in shiga toxin-induced hemolytic uremic syndrome in mice. ( 29446073 )
2018
8
Streptococcus pneumoniae-associated Hemolytic Uremic Syndrome. ( 29417459 )
2018
9
Glucose-6-Phosphate Dehydrogenase Deficiency Mimicking Atypical Hemolytic Uremic Syndrome. ( 29248304 )
2018
10
Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome. ( 29356300 )
2018
11
A Rare Case of Lupus Nephritis Presenting as Thrombotic Microangiopathy with Diffuse Pseudotubulization Possibly Caused by Atypical Hemolytic Uremic Syndrome. ( 29434134 )
2018
12
Case Series of 3 Patients Diagnosed With Atypical Hemolytic Uremic Syndrome Successfully Treated With Steroids, Plasmapheresis, and Rituximab. ( 29308213 )
2018
13
Genome Sequence for Shiga Toxin-Producing Escherichia coli O26:H11, Associated with a Cluster of Hemolytic-Uremic Syndrome Cases in South Africa, 2017. ( 28935743 )
2017
14
Atypical Hemolytic Uremic Syndrome: A Brief Review. ( 28626544 )
2017
15
Complement System Abnormalities in Patients with Atypical Hemolytic Uremic Syndrome and Catastrophic Antiphospholipid Syndrome. ( 29308852 )
2017
16
Blood urea nitrogen to serum creatinine ratio as a prognostic factor in diarrhea-associated hemolytic uremic syndrome: a validation study. ( 28831612 )
2017
17
Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation. ( 28057640 )
2017
18
Maternal and Fetal Outcomes of Pregnancies in Women with Atypical Hemolytic Uremic Syndrome. ( 29282226 )
2017
19
Case report: C3 glomerulopathy advancing atypical hemolytic uremic syndrome. ( 29150227 )
2017
20
Atypical hemolytic uremic syndrome triggered by varicella infection. ( 28725563 )
2017
21
Blood urea nitrogen to serum creatinine ratio is an accurate predictor of outcome in diarrhea-associated hemolytic uremic syndrome, a preliminary study. ( 28078430 )
2017
22
Efficacy of eculizumab in an adult patient with HIV-associated hemolytic uremic syndrome: A case report. ( 29390523 )
2017
23
Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report. ( 28720077 )
2017
24
Rare genetic variant in the CFB gene presenting as atypical hemolytic uremic syndrome and immune complex diffuse membranoproliferative glomerulonephritis, with crescents, successfully treated with eculizumab. ( 28210841 )
2017
25
Atypical Hemolytic Uremic Syndrome: Achieving Positive Patient Outcomes With Early Diagnosis and Appropriate Managementa8c. ( 28738049 )
2017
26
Angiopoietin-1 and -2 as markers for disease severity in hemolytic uremic syndrome induced by enterohemorrhagic Escherichia coli. ( 26945868 )
2017
27
Gemcitabine-induced hemolytic-uremic syndrome treated with eculizumab or plasmapheresis: two case reportsa8c. ( 27879189 )
2017
28
Hemolytic-uremic Syndrome Complicating Acute Pancreatitis. ( 28904486 )
2017
29
Living Donor Kidney Transplantation in Atypical Hemolytic Uremic Syndrome: A Case Series. ( 28821363 )
2017
30
Renal Recovery Years After Initial Diagnosis of Hemolytic Uremic Syndrome. ( 28931327 )
2017
31
Atypical Hemolytic Uremic Syndrome: A Meta-Analysis of Case Reports Confirms the Prevalence of Genetic Mutations and the Shift of Treatment Regimens. ( 29250893 )
2017
32
Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review. ( 29068997 )
2017
33
Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients. ( 28056875 )
2017
34
Successful Treatment of Enterohemorrhagic Escherichia coli-Induced Acute Encephalopathy and Hemolytic-Uremic Syndrome With Polymyxin-B Direct Hemoperfusion. ( 28597511 )
2017
35
A devastating case of diarrhea-associated hemolytic uremic syndrome associated with extensive cerebral infarction; why we need to do better. ( 28599619 )
2017
36
Pathogenic Variants in Complement Genes and Risk of Atypical Hemolytic Uremic Syndrome Relapse after Eculizumab Discontinuation. ( 27799617 )
2017
37
Aortic Valve Replacement as a Trigger of Atypical Hemolytic Uremic Syndrome. ( 28838521 )
2017
38
Targeting renin-angiotensin system in malignant hypertension in atypical hemolytic uremic syndrome. ( 28356668 )
2017
39
Hemolytic Uremic Syndrome-associated Encephalopathy Successfully Treated with Corticosteroids. ( 28943538 )
2017
40
ASSESSMENT OF THE LEVEL OF KNOWLEDGE OF MEDICAL PERSONNEL IN DIARRHEA AND HEMOLYTIC-UREMIC SYNDROME. ( 29328045 )
2017
41
Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland. ( 28750931 )
2017
42
Discontinuation of Peritoneal Dialysis after Late Initiation of Eculizumab in a Case of Familial Atypical Hemolytic-Uremic Syndrome: A Case Report. ( 28612003 )
2017
43
A hemolytic-uremic syndrome-associated strain O113:H21 Shiga toxin-producing Escherichia coli specifically expresses a transcriptional module containing dicA and is related to gene network dysregulation in Caco-2 cells. ( 29253906 )
2017
44
Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome. ( 28835862 )
2017
45
Cobalamin disorder CblC presenting with hemolytic uremic syndrome and pulmonary hypertension. ( 28610805 )
2017
46
Anti-Shigatoxin 2 antibodies in EHEC O104:H4 infected patients may predict hemolytic uremic syndrome. ( 29280264 )
2017
47
Clinical characteristics and long-term outcome of diarrhea-associated hemolytic uremic syndrome: a single center experience. ( 28074307 )
2017
48
A retrospective study of pregnancy-associated atypical hemolytic uremic syndrome. ( 28911789 )
2017
49
Should eculizumab be discontinued in patients with atypical hemolytic uremic syndrome? ( 28616209 )
2017
50
Familial hemolytic uremic syndrome with occurrence in the postpartum period. ( 29265059 )
2017

Variations for Hemolytic-Uremic Syndrome

Expression for Hemolytic-Uremic Syndrome

Search GEO for disease gene expression data for Hemolytic-Uremic Syndrome.

Pathways for Hemolytic-Uremic Syndrome

GO Terms for Hemolytic-Uremic Syndrome

Cellular components related to Hemolytic-Uremic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 C3 C5 CD46 CFB CFH CFHR1
2 extracellular space GO:0005615 9.81 ADAMTS13 C3 C5 CFB CFH CFHR1
3 extracellular region GO:0005576 9.36 ADAMTS13 C3 C5 CFB CFH CFHR1
4 blood microparticle GO:0072562 9.35 C3 CFB CFH CFHR1 CFHR3

Biological processes related to Hemolytic-Uremic Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.81 C3 C5 CD46 CFB
2 innate immune response GO:0045087 9.8 C3 C5 CD46 CFB CFH CFI
3 blood coagulation GO:0007596 9.67 ADAMTS13 THBD VWF
4 complement activation, classical pathway GO:0006958 9.67 C3 C5 CD46 CFI
5 platelet activation GO:0030168 9.63 ADAMTS13 DGKE VWF
6 negative regulation of protein binding GO:0032091 9.61 CFHR1 CFHR2 CFHR5
7 hemostasis GO:0007599 9.58 ADAMTS13 THBD VWF
8 complement activation GO:0006956 9.55 C3 C5 CFB CFH CFHR1
9 positive regulation of vascular endothelial growth factor production GO:0010575 9.48 C3 C5
10 positive regulation of cytolysis GO:0045919 9.43 CFHR1 CFHR2 CFHR5
11 complement activation, alternative pathway GO:0006957 9.35 C3 C5 CFB CFH CFHR5
12 regulation of complement activation GO:0030449 9.32 C3 C5 CD46 CFB CFH CFHR1

Molecular functions related to Hemolytic-Uremic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase inhibitor activity GO:0004866 8.62 C3 C5

Sources for Hemolytic-Uremic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
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32 ICD10
33 ICD10 via Orphanet
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