SNOMED CT

Last uploaded: August 28, 2024
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Preferred Name

Tay-Sachs disease
Synonyms

Tay-Sachs disease (disorder)

Severe hexosaminidase A deficiency

Hexosaminidase A deficiency

Amaurotic familial idiocy

GM2 gangliosidosis, B, B1 variant

Infantile amaurotic familial disease
ID

http://purl.bioontology.org/ontology/SNOMEDCT/111385000
Active

1
altLabel

Tay-Sachs disease (disorder)

Severe hexosaminidase A deficiency

Hexosaminidase A deficiency

Amaurotic familial idiocy

GM2 gangliosidosis, B, B1 variant

Infantile amaurotic familial disease
Associated finding of

http://purl.bioontology.org/ontology/SNOMEDCT/63901000119104
CASE SIGNIFICANCE ID

900000000000020002

900000000000448009

900000000000017005
CTV3ID

X40V1
cui

C0039373

C0282220
DEFINITION STATUS ID

900000000000074008
Effective time

20020131
Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/25087005
INACTIVATION INDICATOR

723277005
notation

111385000
Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007
prefLabel

Tay-Sachs disease
Subset member

447562003~MAPRULE~TRUE

900000000000490003~VALUEID~723277005

447562003~MAPADVICE~ALWAYS E75.0

6011000124106~MAPGROUP~1

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

447562003~MAPTARGET~E75.0

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

900000000000497000~MAPTARGET~X40V1

6011000124106~MAPADVICE~ALWAYS E75.02

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

6011000124106~MAPRULE~TRUE

6011000124106~MAPTARGET~E75.02

900000000000509007~ACCEPTABILITYID~900000000000549004
tui

T047
Type ID

900000000000003001

900000000000013009
subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/85995004

http://purl.bioontology.org/ontology/SNOMEDCT/33316007
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/E75.02 ICD10CM CUI
http://purl.bioontology.org/ontology/CSP/1849-6833 CRISP CUI
http://purl.bioontology.org/ontology/OMIM/272800 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D6-76130 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10043147 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1849-8690 CRISP CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002901 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/606869 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU009172 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10043147 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D013661 MESH CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039373 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SCTSPA/111385000 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X40V1 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10043147 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D013661 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10061888 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10061888 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/1849-8576 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10061888 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D6-76130 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D013661 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/111385000 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D013661 MSHFRE CUI
http://www.radlex.org/RID/RID34416 RADLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#12051 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.350.300.850 RH-MESH LOOM
http://localhost/plosthes.2017-1#10289 PLOSTHES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0039373 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C85184 BERO LOOM
rgo:26277 GAMUTS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038561 PMAPP-PMO LOOM
http://www.projecthalo.com/aura#Tay-Sachs-disease AURA LOOM
http://www.co-ode.org/ontologies/galen#TaySachsDisease GALEN LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Tay-Sachs_Disease CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.300.300.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0010100 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010100 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010100 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010100 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010100 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.300.300.840 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3320 NATPRO LOOM
http://nanbyodata.jp/ontology/NANDO_1200071 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_3320 CLO LOOM
http://purl.obolibrary.org/obo/DOID_3320 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3320 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3320 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3320 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3320 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3320 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.300.300.840 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.02 ICD10CM LOOM
http://nanbyodata.jp/ontology/NANDO_2201199 NANDO LOOM
http://radlex.org/RID/RID34416 RADLEX LOOM
http://purl.jp/bio/4/id/200906096879417680 IOBC LOOM
http://purl.bioontology.org/ontology/OMIM/272800 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.300.300.500 RH-MESH LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Tay_Sachs_Disease APAEDUCLUSTER LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Tay_Sachs_Disease APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Tay_Sachs_Disease APAONTO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.300.300.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D6-76130 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.300.300.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10043147 MEDDRA LOOM
http://purl.bioontology.org/ontology/CSP/1849-8690 CRISP LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_11_1 HAMIDEHSGH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_888 HRDO LOOM
http://purl.obolibrary.org/obo/OMIT_0014518 OMIT LOOM
http://www.orpha.net/ORDO/Orphanet_845 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.350.300.850 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/F101300 RCTV2 LOOM
http://purl.bioontology.org/ontology/MESH/D013661 MESH LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039373 MEDLINEPLUS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D013661 RH-MESH LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Tay-Sachs_Disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Tay-Sachs_Disease MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Tay-Sachs_Disease EPISEM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85184 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.350.300.850 RH-MESH LOOM