SNOMED CT

Last uploaded: August 28, 2024
Preferred Name

GM2 gangliosidosis
Synonyms

Deficiency of beta-N-acetylhexosaminidase isoenzymes

GM2 gangliosidosis (disorder)

ID

http://purl.bioontology.org/ontology/SNOMEDCT/33316007

Active

1

altLabel

Deficiency of beta-N-acetylhexosaminidase isoenzymes

GM2 gangliosidosis (disorder)

CASE SIGNIFICANCE ID

900000000000020002

900000000000017005

Cause of

http://purl.bioontology.org/ontology/SNOMEDCT/1260380006

http://purl.bioontology.org/ontology/SNOMEDCT/1187543005

CTV3ID

X40Uw

cui

C0268274

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

Has finding site

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

INACTIVATION INDICATOR

900000000000485001

notation

33316007

Occurs in

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

prefLabel

GM2 gangliosidosis

Subset member

447562003~MAPRULE~TRUE

900000000000497000~MAPTARGET~X40Uw

447562003~MAPADVICE~ALWAYS E75.0

6011000124106~MAPGROUP~1

6011000124106~MAPADVICE~ALWAYS E75.00 | DESCENDANTS NOT EXHAUSTIVELY MAPPED

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

447562003~MAPTARGET~E75.0

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

900000000000490003~VALUEID~900000000000485001

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

6011000124106~MAPTARGET~E75.00

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

6011000124106~MAPRULE~TRUE

900000000000509007~ACCEPTABILITYID~900000000000549004

tui

T047

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/50967008

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNMI/D6-76100 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X40Uw RCD CUI
http://purl.bioontology.org/ontology/MESH/D020143 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D020143 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004000 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.0 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.00 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10083933 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/E75.0 ICD10 CUI
http://purl.bioontology.org/ontology/SCTSPA/33316007 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10083933 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10083933 MDRGER CUI
http://purl.obolibrary.org/obo/MONDO_0017720 MONDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268274 OCHV LOOM
http://nanbyodata.jp/ontology/NANDO_2200559 NANDO LOOM
http://purl.bioontology.org/ontology/RCD/X40Uw RCD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C197908 NCIT LOOM
rgo:30124 GAMUTS LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_11 HAMIDEHSGH LOOM
http://nanbyodata.jp/ontology/NANDO_1200070 NANDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.0 ICD10CM LOOM
http://purl.bioontology.org/ontology/ICD10/E75.0 ICD10 LOOM
http://www.orpha.net/ORDO/Orphanet_309152 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_21352 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0017720 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0017720 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0017720 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0017720 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0017720 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_3321 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3321 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3321 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3321 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3321 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3321 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083933 MEDDRA LOOM