MCID: SBP001
MIFTS: 47

Subependymal Giant Cell Astrocytoma malady

Rare diseases, Neuronal diseases, Cancer diseases categories

Aliases & Classifications for Subependymal Giant Cell Astrocytoma

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 47Orphanet, 60UMLS, 43Novoseek, 55SNOMED-CT, 38NCIt, 33MeSH, 61UMLS via Orphanet
See all sources

Subependymal Giant Cell Astrocytoma, Aliases & Descriptions:

Name: Subependymal Giant Cell Astrocytoma 9 41 11 47 60
Sega 9 41 47
 
Astrocytoma Subependymal Giant Cell 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases
Anatomical: Neuronal diseases


External Ids:

Disease Ontology9 DOID:5077
NCIt38 C3696
MeSH33 D001254
SNOMED-CT55 1586004
Orphanet47 251618
UMLS via Orphanet61 C0205768

Summaries for Subependymal Giant Cell Astrocytoma

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Wikipedia:63 Subependymal giant cell astrocytoma (SEGA, SGCA, or SGCT) is a low-grade astrocytic brain tumor... more...

MalaCards based summary: Subependymal Giant Cell Astrocytoma, also known as sega, is related to giant cell glioblastoma and subependymoma. An important gene associated with Subependymal Giant Cell Astrocytoma is FABP7 (fatty acid binding protein 7, brain), and among its related pathways are FSH signaling pathway and Insulin receptor signalling cascade. The compounds reticulin and eosin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and thyroid, and related mouse phenotypes are renal/urinary system and no phenotypic analysis.

Related Diseases for Subependymal Giant Cell Astrocytoma

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Diseases related to Subependymal Giant Cell Astrocytoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1giant cell glioblastoma31.4GFAP
2subependymoma31.4TSC2
3gemistocytic astrocytoma31.1GFAP, S100B
4angiomyolipoma31.1TSC1, MTOR, TSC2, VIM
5neuroblastoma30.9ENO2, SYP, TP53
6astrocytoma30.7S100B, GFAP, TP53, VIM, NES, TSC2
7central neurocytoma30.7MAP2, SYP, GFAP
8tuberous sclerosis30.6GFAP, VIM, NES, TSC2, TSC1, MTOR
9retinoblastoma29.8MAP2, GFAP, TP53, MTOR, SYP, ENO2
10glioblastoma29.6GFAP, TP53, MAP2, CCK, S100B, MTOR
11gliomatosis cerebri10.6GFAP
12dysembryoplastic neuroepithelial tumor10.6SYP
13melanotic neuroectodermal tumor10.6SYP
14mixed glioma10.6GFAP
15perivascular epithelioid cell tumor10.5TSC2
16alexander disease10.5GFAP
17medulloepithelioma10.5SYP
18somatostatinoma10.5SST
19ewing's family of tumors10.5ENO2
20tuberous sclerosis-110.5TSC2, TSC1
21epulis10.5ENO2
22lymphangioleiomyomatosis10.5TSC2, TSC1
23intestinal disease10.4SST
24pineoblastoma10.4GFAP, SYP
25west syndrome10.4TSC1, TSC2
26binswanger's disease10.4GFAP, SYP
27gliosarcoma10.4GFAP
28cystic kidney10.4TSC1, TSC2
29cowden disease10.4TSC2, TSC1
30syringoma10.4S100B, GFAP
31huntington disease10.4SST, NPY
32gallbladder disease10.4CCK, TSC1
33lymphedema10.4
34thyroiditis10.4
35myxopapillary ependymoma10.4S100B, GFAP
36choroid plexus carcinoma10.4GFAP, S100B
37neurilemmoma10.4GFAP, ENO2
38anaplastic ependymoma10.3GFAP, S100B
39islet cell tumor10.3SYP, SST
40endocrine gland cancer10.3SST, SYP
41von hippel-lindau syndrome10.3NPY, TSC2
42hydrocephalus10.3TSC1, NES
43kidney angiomyolipoma10.3TSC2, MTOR, TSC1
44bulimia nervosa10.3CCK, NPY
45peutz-jeghers syndrome10.3TSC2, TSC1, MTOR
46polycystic kidney disease10.3MTOR, TSC1, TSC2
47polycystic kidney disease, autosomal dominant10.3TSC2, MTOR, TSC1
48temporal lobe epilepsy10.3CALB1, GFAP, NPY
49status epilepticus10.3ENO2, NPY
50rhabdoid meningioma10.3VIM, GFAP

Graphical network of the top 20 diseases related to Subependymal Giant Cell Astrocytoma:



Diseases related to subependymal giant cell astrocytoma

Symptoms for Subependymal Giant Cell Astrocytoma

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Drugs & Therapeutics for Subependymal Giant Cell Astrocytoma

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Drug clinical trials:

Search ClinicalTrials for Subependymal Giant Cell Astrocytoma

Search NIH Clinical Center for Subependymal Giant Cell Astrocytoma

Genetic Tests for Subependymal Giant Cell Astrocytoma

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Anatomical Context for Subependymal Giant Cell Astrocytoma

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MalaCards organs/tissues related to Subependymal Giant Cell Astrocytoma:

31
Brain, Spinal cord, Thyroid, Skin, Testes

Animal Models for Subependymal Giant Cell Astrocytoma or affiliated genes

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MGI Mouse Phenotypes related to Subependymal Giant Cell Astrocytoma:

35 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7TP53, TSC2, TSC1, MTOR, NPY
2MP:00030128.4TP53, FABP7, SST, CCK, MTOR, SYP
3MP:00053808.3TP53, VIM, NES, TSC2, TSC1, MTOR
4MP:00053888.3ENO2, MTOR, TSC1, VIM, TP53
5MP:00053847.6GFAP, TP53, VIM, NES, TSC2, TSC1
6MP:00107687.3GFAP, TP53, VIM, NES, TSC2, TSC1
7MP:00053767.2FABP7, VIM, TP53, GFAP, TSC2, TSC1
8MP:00053787.1GFAP, TP53, VIM, NES, TSC2, TSC1
9MP:00028737.1GFAP, TP53, TSC2, SST, MTOR, SYP
10MP:00053865.2TSC2, FABP7, NES, VIM, TP53, GFAP
11MP:00036314.9NPY, GFAP, TP53, VIM, NES, FABP7

Publications for Subependymal Giant Cell Astrocytoma

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Articles related to Subependymal Giant Cell Astrocytoma:

(show top 50)    (show all 122)
idTitleAuthorsYear
1
Erk activation as a possible mechanism of transformation of subependymal nodule into subependymal giant cell astrocytoma. (25909870)
2015
2
Thyroid transcription factor-1 and epithelial membrane antigen expression in four cases of subependymal giant cell astrocytoma. (25195621)
2014
3
Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study. (25456370)
2014
4
A management strategy for intraventricular subependymal giant cell astrocytomas in tuberous sclerosis complex. (24180681)
2014
5
Everolimus Treatment for an Early Infantile Subependymal Giant Cell Astrocytoma With Tuberous Sclerosis Complex. (25143481)
2014
6
Resection of subependymal giant cell astrocytoma guided by intraoperative magnetic resonance imaging and neuronavigation. (23397586)
2013
7
Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. (23391693)
2013
8
Subependymal giant cell astrocytoma associated with tuberous sclerosis presenting with intratumoral bleeding. Case report and review of literature. (23138436)
2013
9
Congenital Segmental Lymphedema in Tuberous Sclerosis Complex With Associated Subependymal Giant Cell Astrocytomas Treated with Mammalian Target of Rapamycin Inhibitors. (24056156)
2013
10
Response of Subependymal Giant Cell Astrocytoma With Spinal Cord Metastasis to Everolimus. (24276039)
2013
11
Everolimus for tumor recurrence after surgical resection for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. (22805244)
2013
12
Subependymal giant cell astrocytoma with intratumoral hemorrhage. (23414132)
2013
13
Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex. (24143074)
2013
14
Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma. (23325902)
2013
15
Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. (23567018)
2013
16
Outcomes of resecting subependymal giant cell astrocytoma (SEGA) among patients with SEGA-related tuberous sclerosis complex: a national claims database analysis. (22375958)
2012
17
Subependymal giant cell astrocytoma: Cytological findings. (23326038)
2012
18
Squash cytology of subependymal giant cell astrocytoma: report of four cases with brief review of literature. (22431322)
2012
19
Everolimus tablets for patients with subependymal giant cell astrocytoma. (21806479)
2011
20
Potential of mTOR inhibitors for the treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex. (21415462)
2011
21
Bulky subependymal giant cell astrocytoma with profuse blood supply without tuberous sclerosis. (20956931)
2010
22
Rapamycin as an alternative to surgical treatment of subependymal giant cell astrocytomas in a patient with tuberous sclerosis complex. (20887114)
2010
23
Neonatal subependymal giant cell astrocytoma: new case and review of literature. (17275668)
2007
24
Upregulation of the WNT pathway in tuberous sclerosis-associated subependymal giant cell astrocytomas. (17071037)
2007
25
Cytologic characteristics of subependymal giant cell astrocytoma in squash smears: morphometric comparisons with gemistocytic astrocytoma and giant cell glioblastoma. (17536538)
2007
26
Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex. (15851742)
2005
27
Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. (15624760)
2004
28
Subependymal giant cell astrocytoma with positive tuberin expression--case report. (14723270)
2003
29
Rapid regrowth of solitary subependymal giant cell astrocytoma--case report. (12064158)
2002
30
Secondary parathyroid hyperplasia in tuberous sclerosis: report of a case with large eosinophilic ganglion-like cells similar to those of subependymal giant cell astrocytoma, tubers, and atypical angiomyolipoma. (11812950)
2002
31
Subependymal giant cell astrocytoma: clinical and neuroimaging features of four cases. (11322123)
2001
32
Subependymal giant cell astrocytoma associated with tuberous sclerosis exhibiting rapid regrowth after 17 years: a case report]. (10396738)
1999
33
Image interpretation session: 1998. Tuberous sclerosis with multiple bilateral renal cysts and a subependymal giant cell astrocytoma. (10722364)
1999
34
Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis. (9568761)
1998
35
Subependymal giant-cell astrocytoma associated with tuberous sclerosis: case report. (9795959)
1998
36
Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. (9403714)
1997
37
Immunohistochemical characterization of subependymal giant cell astrocytomas. (8928613)
1996
38
Hemorrhagic subependymal giant cell astrocytoma. (7761172)
1995
39
A neonatal huge subependymal giant cell astrocytoma: case report. (7808622)
1994
40
Cytomorphology of subependymal giant cell astrocytoma. A case report. (8465641)
1993
41
The cystic growth of a subependymal giant-cell astrocytoma with tuberous sclerosis. (1405432)
1992
42
Tuberous sclerosis complex: oligosymptomatic variant associated with subependymal giant-cell astrocytoma. (1749677)
1991
43
Clinical and immunohistochemical studies of subependymal giant cell astrocytomas associated with tuberous sclerosis. (1705105)
1990
44
Rare subependymal giant-cell astrocytoma in a neonate with tuberous sclerosis. (2124070)
1990
45
Subependymal giant-cell astrocytoma associated with tuberous sclerosis. Do subependymal nodules grow? (2702677)
1989
46
Subependymal giant-cell astrocytoma in children. An unusual discrepancy between histological and clinical features. (3286833)
1988
47
Subependymal giant-cell astrocytoma. A case report. (3218563)
1988
48
Paratesticular neuroblastoma associated with subependymal giant cell astrocytoma. (7452809)
1980
49
Subependymal giant-cell astrocytoma. Case report with ultrastructural study. (430139)
1979
50
Recurrent subependymal giant-cell astrocytoma in the absence of tuberous sclerosis. Case report. (758371)
1979

Variations for Subependymal Giant Cell Astrocytoma

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Expression for genes affiliated with Subependymal Giant Cell Astrocytoma

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Search GEO for disease gene expression data for Subependymal Giant Cell Astrocytoma.

Pathways for genes affiliated with Subependymal Giant Cell Astrocytoma

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Pathways related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MTOR, TSC2
2
Show member pathways
9.7TSC2, TSC1, MTOR
3
Show member pathways
mTOR signaling pathway36
9.7MTOR, TSC1, TSC2
49.7MTOR, TSC1, TSC2
59.7TSC2, TSC1, MTOR
69.4TP53, TSC2, TSC1
7
Show member pathways
Signal transduction PTEN pathway58
9.3MTOR, TSC2, TP53
89.3TP53, TSC2, MTOR
9
Show member pathways
9.2GFAP, TSC2, MTOR, S100B
109.1VIM, TP53, GFAP
119.0TP53, TSC2, TSC1, MTOR
129.0MTOR, TSC1, TSC2, TP53
139.0TP53, TSC2, TSC1, MTOR
14
Show member pathways
Signaling Pathways in Glioblastoma36
9.0TP53, TSC2, TSC1, MTOR
15
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
9.0TP53, TSC2, TSC1, MTOR
169.0TP53, TSC2, TSC1, MTOR
17
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway58
Signal transduction AKT signaling58
9.0TP53, TSC2, TSC1, MTOR
18
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells58
Oncostatin M Signaling Pathway36
9.0MAP2, MTOR, TP53
19
Show member pathways
8.6TSC1, TSC2, VIM, TP53, GFAP
208.5TP53, TSC2, TSC1, MTOR, MAP2
21
Show member pathways
7.4GFAP, TP53, TSC2, TSC1, SST, CCK
227.1NPY, GFAP, FABP7, SYP, MAP2, CALB1

Compounds for genes affiliated with Subependymal Giant Cell Astrocytoma

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Compounds related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

(show top 50)    (show all 159)
idCompoundScoreTop Affiliating Genes
1reticulin439.4GFAP, VIM, SYP, S100B
2eosin439.4S100B, GFAP, VIM
3spec-t439.3ENO2, SST, TSC1, GFAP
4n-acetylaspartate439.2GFAP, SYP, CALB1
5streptozotocin439.0SYP, NES, VIM, GFAP, SST, NPY
6s 100438.9GFAP, VIM, SYP, S100B, ENO2
7catecholamine438.7VIM, SYP, ENO2, NPY, S100B
8ganglioside438.6SYP, ENO2, GFAP, VIM, NES, MAP2
9vinblastine43 49 1210.5MAP2, SST, VIM, TP53, NPY
10tetrodotoxin43 59 2810.5CALB1, GFAP, CCK, ENO2, NPY
11cocaine43 129.5VIM, CCK, MAP2, NPY, S100B, GFAP
12methamphetamine43 49 1210.5CALB1, GFAP, MAP2, NPY
13kainate43 289.4NPY, GFAP, NES, SYP, MAP2, CALB1
14hematoxylin438.4S100B, MAP2, SYP, VIM, GFAP, ENO2
15dbc-amp438.4ENO2, S100B, MAP2, SYP, VIM, GFAP
16acth438.4S100B, GFAP, CCK, SYP, ENO2, NPY
17silver438.3SYP, ENO2, GFAP, CALB1, MAP2
18l-amino acid438.3SYP, S100B, ENO2, MAP2, CALB1
19leucine438.2SYP, ENO2, S100B, MTOR, TSC2, VIM
20glutamine438.2S100B, GFAP, VIM, CCK, SYP, ENO2
21dmso438.2NES, NPY, ENO2, VIM, MAP2
22lactate438.0ENO2, NPY, SST, S100B, GFAP, VIM
23formaldehyde43 248.8NPY, CALB1, SYP, GFAP, VIM, ENO2
24potassium43 24 129.8ENO2, CALB1, MAP2, GFAP, SYP, S100B
25lipid437.7MTOR, NES, ENO2, GFAP, TSC2, SYP
26nmda43 288.7SYP, ENO2, NPY, CALB1, MAP2, VIM
27bromodeoxyuridine437.7S100B, ENO2, CALB1, NES, VIM, GFAP
28glycogen43 248.6SYP, MTOR, TSC1, TSC2, VIM, GFAP
295-hydroxytryptamine437.5SST, CCK, GFAP, NPY, ENO2, CALB1
30arginine437.5MTOR, CCK, S100B, TP53, GFAP, VIM
31progesterone43 28 59 24 1211.5VIM, GFAP, ENO2, S100B, MAP2, SYP
32adenylate437.4SST, NPY, S100B, GFAP, VIM, MAP2
33forskolin43 49 129.4GFAP, VIM, NPY, ENO2, S100B, CALB1
34nitric oxide43 24 129.4NES, NPY, MAP2, CALB1, S100B, SYP
35norepinephrine43 24 129.3ENO2, MAP2, SYP, CCK, NPY, CALB1
36serine437.2VIM, TSC2, S100B, TP53, GFAP, MAP2
37dexamethasone43 49 28 1210.0MTOR, SYP, VIM, CALB1, S100B, ENO2
38atp43 287.9NPY, ENO2, CALB1, MTOR, VIM, GFAP
39acetylcholine43 49 28 24 1210.9SST, CCK, NES, VIM, GFAP, NPY
40dopamine43 28 24 129.8S100B, CCK, NPY, GFAP, NES, SST
41paraffin436.8NPY, ENO2, S100B, MAP2, SYP, TSC1
42choline43 24 128.8S100B, ENO2, NPY, CALB1, MAP2, SYP
43vegf436.4ENO2, S100B, MAP2, SYP, MTOR, SST
44tyrosine436.3ENO2, TSC1, NPY, S100B, CALB1, CCK
45glucose436.3GFAP, NES, TSC2, TSC1, SST, CCK
46glutamate436.2NPY, ENO2, S100B, CALB1, MAP2, SYP
47gaba436.2SYP, MAP2, CALB1, S100B, ENO2, NPY
48testosterone43 59 24 129.0S100B, CALB1, MAP2, SYP, MTOR, CCK
49estrogen435.9NPY, ENO2, S100B, CALB1, MAP2, SYP
50retinoic acid43 246.2S100B, CALB1, MAP2, SYP, MTOR, CCK

GO Terms for genes affiliated with Subependymal Giant Cell Astrocytoma

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Cellular components related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:003359610.0TSC2, TSC1
2intermediate filamentGO:00058829.2GFAP, VIM, NES
3extracellular spaceGO:00056158.5NPY, ENO2, S100B, CCK, SST
4neuronal cell bodyGO:00430258.0S100B, FABP7, TSC2, SST, MAP2, CALB1
5cytoplasmGO:00057377.0GFAP, TP53, VIM, NES, FABP7, TSC2
6cytosolGO:00058296.9GFAP, TP53, VIM, TSC2, TSC1, MTOR

Biological processes related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of TOR signalingGO:003200710.1TSC2, TSC1
2Bergmann glial cell differentiationGO:006002010.1VIM, GFAP
3astrocyte developmentGO:001400210.0GFAP, VIM
4intermediate filament organizationGO:004510910.0GFAP, VIM
5negative regulation of cell sizeGO:004579210.0TSC2, MTOR, TSC1
6regulation of protein kinase activityGO:004585910.0TSC1, MTOR
7regulation of neuronal synaptic plasticityGO:004816810.0SYP, S100B
8central nervous system neuron developmentGO:00219549.9NPY, MAP2
9long-term synaptic potentiationGO:00602919.8GFAP, S100B
10insulin receptor signaling pathwayGO:00082869.8TSC2, TSC1, MTOR
11negative regulation of neuron projection developmentGO:00109779.8VIM, GFAP
12positive regulation of protein oligomerizationGO:00324619.7CCK, TP53
13cell cycle arrestGO:00070509.5TSC2, TSC1, TP53
14response to amino acidGO:00432009.5MTOR, SST
15axonogenesisGO:00074099.5MAP2, CCK, S100B
16positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.5MTOR, CCK, TP53
17central nervous system developmentGO:00074179.4NES, S100B, TP53
18cellular response to hypoxiaGO:00714569.4S100B, MTOR, TP53
19release of cytochrome c from mitochondriaGO:00018369.4TP53, CCK
20cellular response to organic substanceGO:00713109.2SYP, MAP2, CALB1
21negative regulation of cell proliferationGO:00082859.1TSC2, FABP7, TP53, TSC1, SST

Molecular functions related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuropeptide hormone activityGO:00051849.8NPY, CCK
2identical protein bindingGO:00428028.4S100B, SYP, VIM, TP53

Products for genes affiliated with Subependymal Giant Cell Astrocytoma

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Sources for Subependymal Giant Cell Astrocytoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet