CAMT
MCID: CNG052
MIFTS: 55

Congenital Amegakaryocytic Thrombocytopenia (CAMT) malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Congenital Amegakaryocytic Thrombocytopenia

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited disorder. more...

MalaCards: Congenital Amegakaryocytic Thrombocytopenia, also known as thrombocytopenia congenital amegakaryocytic, is related to thrombocytopenia and pancytopenia, and has symptoms including poorly ossified skull/calvarium, cardiac septal defect and thrombocytopenia/thrombopenia. An important gene associated with Congenital Amegakaryocytic Thrombocytopenia is MPL (myeloproliferative leukemia virus oncogene), and among its related pathways are Jak-STAT signaling pathway and IL-9 Signaling Pathways. The compounds megapoietin and mafosfamide have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and t cells, and related mouse phenotypes are immune system and hematopoietic system.

Description from OMIM:47 604498

Aliases & Classifications for Congenital Amegakaryocytic Thrombocytopenia

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43NIH Rare Diseases, 49Orphanet, 31LifeMap Discovery™, 62UMLS, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49
congenital amegakaryocytic thrombocytopenia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

congenital amegakaryocytic thrombocytopenia 43 49 31 62
thrombocytopenia congenital amegakaryocytic 43 20 22
thrombocytopenia, congenital amegakaryocytic 47
amegakaryocytic thrombocytopenia, congenital 45
camt 43


External Ids:

OMIM47 604498
MESH via Orphanet36 C535982
ICD10 via Orphanet26 D61.0
SNOMED-CT via Orphanet59 234482009
UMLS via Orphanet63 C1327915

Related Diseases for Congenital Amegakaryocytic Thrombocytopenia

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17GeneCards, 18GeneDecks
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Diseases in the Congenital Amegakaryocytic Thrombocytopenia family:

Thrombocytopenia, Acquired Amegakaryocytic

Diseases related to Congenital Amegakaryocytic Thrombocytopenia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia31.6IL3, MPL, THPO
2pancytopenia30.4IL3, MPL, THPO
3aplastic anemia30.4MPL, THPO, IL3
4hematopoietic stem cell transplantation10.3
5thrombocythemia 110.1THPO
6purpura10.1THPO
7erythrocytosis10.0MPL, IL3
8thrombocytopenia due to platelet alloimmunization10.0MPL, THPO
9myelofibrosis10.0THPO, MPL
10chronic myeloproliferative disease10.0MPL, THPO
11severe congenital neutropenia10.0THPO, IL3
12autoimmune thrombocytopenic purpura10.0MPL, THPO
13megakaryocytic leukemia10.0IL3, THPO
14splenomegaly10.0THPO, MPL
15diamond-blackfan anemia 110.0THPO, IL3
16hepatoblastoma10.0THPO, MPL
17fanconi's anemia10.0IL3, THPO
18liver cirrhosis10.0THPO, MPL
19factor v leiden thrombophilia10.0THPO, MPL
20severe combined immunodeficiency10.0IL18R1, IL3
21precursor t-cell acute lymphoblastic leukemia10.0IL3, IL18R1
22hodgkin's lymphoma10.0IL18R1, IL3
23t-cell leukemia10.0IL3, IL18R1
24refractory anemia10.0MPL, THPO, IL3
25hemorrhagic thrombocythemia10.0THPO, MPL, IL3
26polycythemia10.0THPO, IL3, MPL
27polycythemia vera10.0MPL, THPO, IL3
28thrombocytosis10.0THPO, MPL, IL3
29chronic lymphocytic leukemia10.0IL18R1, THPO
30galactosemia10.0THPO, MPL
31neutropenia10.0MPL, IL3, THPO
32hematologic cancer10.0MPL, THPO, IL3
33myelodysplastic syndromes10.0IL3, MPL, THPO
34primary hyperoxaluria10.0THPO, IL18R1
35acute erythroid leukemia10.0IL3, THPO, MPL
36chronic myeloid leukemia10.0IL3, MPL, THPO
37deficiency anemia10.0THPO, MPL, IL3
38myeloma10.0IL3, IL18R1
39ulcerative colitis10.0IL18R1, THPO
40immunodeficiency with hyper igm type 210.0IL18R1, THPO
41non-small cell lung carcinoma9.9IL3, IL18R1, THPO
42ipex syndrome9.9MPL, THPO, IL18R1
43sarcoma9.9THPO, IL18R1
44myeloproliferative disorder9.9IL3, MPL, THPO, IL18R1
45acute leukemia9.9THPO, MPL, IL3, IL18R1
46acute lymphocytic leukemia9.9IL18R1, MPL, THPO, IL3
47myeloid leukemia9.9IL18R1, MPL, IL3, THPO
48leukemia9.9THPO, IL3, MPL, IL18R1

Graphical network of the top 20 diseases related to Congenital Amegakaryocytic Thrombocytopenia:



Diseases related to congenital amegakaryocytic thrombocytopenia

Symptoms for Congenital Amegakaryocytic Thrombocytopenia

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

604498

Clinical features from OMIM:

604498

Symptoms:

49 (show all 12)
  • poorly ossified skull/calvarium
  • cardiac septal defect
  • thrombocytopenia/thrombopenia
  • hemoglobinosis/hemoglobinopathy
  • x-linked recessive inheritance
  • anaemia
  • short stature/dwarfism/nanism
  • abnormal vertebral size/shape
  • coarse face
  • pigmented naevi/naevus pigmentosus/lentigo
  • scoliosis
  • short neck

Drugs & Therapeutics for Congenital Amegakaryocytic Thrombocytopenia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Congenital Amegakaryocytic Thrombocytopenia

Search NIH Clinical Center for Congenital Amegakaryocytic Thrombocytopenia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Stem-cell-based therapeutic approaches for Congenital Amegakaryocytic Thrombocytopenia:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Congenital Amegakaryocytic Thrombocytopenia:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905

Genetic Tests for Congenital Amegakaryocytic Thrombocytopenia

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20GeneTests, 22GTR
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Genetic tests related to Congenital Amegakaryocytic Thrombocytopenia:

id Genetic test Affiliating Genes
1 Amegakaryocytic Thrombocytopenia, Congenital20 MPL
2 Congenital Amegakaryocytic Thrombocytopenia22

Anatomical Context for Congenital Amegakaryocytic Thrombocytopenia

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33MalaCards
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MalaCards organs/tissues related to Congenital Amegakaryocytic Thrombocytopenia:

33
Bone marrow, Bone, T cells, Myeloid

Animal Models for Congenital Amegakaryocytic Thrombocytopenia or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Congenital Amegakaryocytic Thrombocytopenia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0IL18R1, IL3, MPL, THPO
2MP:00053977.7IL18R1, IL3, MPL, THPO

Publications for Congenital Amegakaryocytic Thrombocytopenia

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Sources:
52PubMed
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Articles related to Congenital Amegakaryocytic Thrombocytopenia:

(show all 43)
idTitleAuthorsYear
1
Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: Report of a case and review of the literature. (24119002)
2014
2
Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling. (23908116)
2013
3
Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life. (23625800)
2013
4
T-cell-depleted hematopoietic SCT from unrelated donors for the treatment of congenital amegakaryocytic thrombocytopenia. (21785471)
2012
5
Congenital amegakaryocytic thrombocytopenia. (21337678)
2011
6
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. (21489838)
2011
7
Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. (22102270)
2011
8
A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. (21162090)
2011
9
Congenital amegakaryocytic thrombocytopenia: a brief review of the literature. (21151552)
2010
10
F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents. (20188141)
2010
11
Unrelated bone marrow transplant for congenital amegakaryocytic thrombocytopenia: report of two cases and review of the literature. (19490489)
2010
12
Advances in the understanding of congenital amegakaryocytic thrombocytopenia. (19388932)
2009
13
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. (19327586)
2009
14
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. (19302922)
2009
15
Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498). (18519517)
2008
16
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. (18422784)
2008
17
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. (18240171)
2008
18
Congenital amegakaryocytic thrombocytopenia (CAMT): a case report with review of literature. (17883175)
2007
19
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. (17666371)
2007
20
Congenital amegakaryocytic thrombocytopenia--report of a new c-mpl gene missense mutation. (17034029)
2007
21
Novel mutations in a child with congenital amegakaryocytic thrombocytopenia. (17054430)
2006
22
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. (16470591)
2006
23
Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. (16822462)
2006
24
Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor. (15667621)
2005
25
Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7. (15782403)
2005
26
Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation. (16219544)
2005
27
Allogeneic stem cell transplantation for patients with congenital amegakaryocytic thrombocytopenia (CAT). (14968137)
2004
28
Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia. (12799278)
2003
29
Successful engraftment of unrelated donor stem cells in two children with congenital amegakaryocytic thrombocytopenia. (11902750)
2002
30
From gene to disease; from a thrombopoietin receptor gene defect to congenital amegakaryocytic thrombocytopenia]. (11913111)
2002
31
Screening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism. (11392330)
2001
32
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. (10971406)
2000
33
Identification of mutations in c-mpl gene in congenital amegakaryocytic thrombocytopenia]. (11187928)
2000
34
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT). (11071383)
2000
35
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. (10077649)
1999
36
Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia. (9029014)
1997
37
Bone marrow transplantation in two children with congenital amegakaryocytic thrombocytopenia. (7670411)
1995
38
Effects of interleukin-3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia. (8461459)
1993
39
Congenital amegakaryocytic thrombocytopenia: an intrinsic hematopoietic stem cell defect. (2378417)
1990
40
A case report of congenital amegakaryocytic thrombocytopenia. (6866544)
1983
41
Congenital amegakaryocytic thrombocytopenia. (5689748)
1968
42
A case of congenital amegakaryocytic thrombocytopenia with leukemoid blood picture and congenital deformities. (13662107)
1959
43
Congenital amegakaryocytic thrombocytopenia with congenital deformities and a leukemoid blood picture in the newborn. (13436513)
1957

Variations for Congenital Amegakaryocytic Thrombocytopenia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Congenital Amegakaryocytic Thrombocytopenia:

1
id Gene Name Type Significance SNP ID Assembly Location
1MPLNM_005373.2(MPL): c.556C> T (p.Gln186Ter)single nucleotide variantPathogenicrs121913610GRCh37Chr 1, 43805106: 43805106
2MPLMPL, 1-BP DEL, 1499TdeletionPathogenic
3MPLNM_005373.2(MPL): c.769C> T (p.Arg257Cys)single nucleotide variantPathogenicrs121913611GRCh37Chr 1, 43805713: 43805713
4MPLNM_005373.2(MPL): c.1904C> T (p.Pro635Leu)single nucleotide variantPathogenicrs121913612GRCh37Chr 1, 43818439: 43818439
5MPLNM_005373.2(MPL): c.305G> C (p.Arg102Pro)single nucleotide variantPathogenicrs28928907GRCh37Chr 1, 43804305: 43804305
6MPLNM_005373.2(MPL): c.1473G> A (p.Trp491Ter)single nucleotide variantPathogenicrs121913613GRCh37Chr 1, 43814938: 43814938
7MPLMPL, IVS10AS, G-T, -1single nucleotide variantPathogenic
8MPLNM_005373.2(MPL): c.823C> A (p.Pro275Thr)single nucleotide variantPathogenicrs28928908GRCh37Chr 1, 43805767: 43805767

Expression for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

Search GEO for disease gene expression data for Congenital Amegakaryocytic Thrombocytopenia.

Pathways for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 54R&D Systems, 60Thomson Reuters, 53QIAGEN, 55Reactome, 5Cell Signaling Technology
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Pathways related to Congenital Amegakaryocytic Thrombocytopenia according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Type III interferon signaling38
9.4MPL, IL3
2
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
9.3MPL, THPO
3
Show member pathways
9.3THPO, MPL
4
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway60
9.3THPO, MPL
59.3IL3, THPO
6
Show member pathways
9.3IL3, THPO
7
Show member pathways
9.1IL18R1, IL3
8
Show member pathways
8.6MPL, IL3, IL18R1
9
Show member pathways
8.5IL18R1, IL3, THPO
10
Show member pathways
8.5IL18R1, IL3, THPO
11
Show member pathways
8.5IL18R1, IL3, THPO
12
Show member pathways
8.0IL18R1, IL3, MPL, THPO

Compounds for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 51PharmGKB, 24HMDB, 61Tocris Bioscience
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Compounds related to Congenital Amegakaryocytic Thrombocytopenia according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1megapoietin459.8THPO, MPL
2mafosfamide459.8IL3, THPO
3anagrelide45 1110.8MPL, THPO
4pixy321459.8IL3, THPO
5amifostine45 1110.7THPO, IL3
6gm-csf45 2910.7THPO, IL3
7ifosfamide45 1110.7IL3, THPO
8methylcellulose459.7IL3, THPO
9leucovorin45 51 1111.7THPO, IL3
10thromboxane45 2410.7MPL, THPO
11carboplatin45 51 1111.7THPO, IL3
12hydroxyurea45 51 1111.7IL3, THPO
13cytarabine45 51 1111.6IL3, THPO
14imatinib45 51 1111.6IL3, THPO
155-aza-2deoxycytidine459.6IL3, THPO
16fmlp459.6THPO, IL3
17prostacyclin459.6IL3, THPO
18ivig459.5IL18R1, IL3
19neopterin459.5IL18R1, IL3
20aspirin45 51 29 2412.5THPO, MPL
21etoposide45 51 61 1112.4IL3, THPO
22clozapine45 29 51 1112.4IL18R1, IL3
23tacrolimus45 51 1111.3IL18R1, IL3
24butyrate459.3IL3, THPO
25calcitriol45 61 24 1112.3IL18R1, IL3
265fluorouracil459.2THPO, MPL, IL3
27agar459.2IL3, MPL, THPO
28phosphotyrosine459.2IL18R1, IL3
29histidine459.0MPL, THPO
3012-o-tetradecanoylphorbol 13-acetate459.0IL18R1, IL3
31filgrastim45 1110.0IL18R1, IL3, THPO
32polyethylene glycol459.0IL18R1, MPL, THPO
33threonine458.9IL18R1, IL3, MPL
34rantes458.9IL18R1, IL3, THPO
35polysaccharide458.9IL18R1, IL3, THPO
36rapamycin458.9IL18R1, IL3, THPO
37ly294002458.9THPO, IL3, IL18R1
38thymidine45 249.9IL18R1, IL3, THPO
39heparin45 29 24 1111.9THPO, IL3, IL18R1
40adenylate458.9IL18R1, IL3, THPO
41dexamethasone45 51 29 1111.9THPO, IL3, IL18R1
42vegf458.9IL18R1, MPL, THPO
43estrogen458.8IL18R1, IL3, THPO
44retinoic acid45 249.8THPO, IL3, IL18R1
45serine458.6MPL, IL3, IL18R1
46gp 130458.4IL18R1, IL3, MPL, THPO
47phosphatidylinositol458.4THPO, MPL, IL3, IL18R1
48alanine458.4IL18R1, IL3, MPL, THPO
49cysteine458.4THPO, MPL, IL3, IL18R1
50tyrosine458.4IL18R1, IL3, MPL, THPO

GO Terms for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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16Gene Ontology
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Biological processes related to Congenital Amegakaryocytic Thrombocytopenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:0301689.3MPL, THPO

Molecular functions related to Congenital Amegakaryocytic Thrombocytopenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.3IL3, THPO
2growth factor activityGO:0080839.0IL3, THPO

Products for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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  • Antibodies
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Sources for Congenital Amegakaryocytic Thrombocytopenia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet