SNOMED CT

Last uploaded: August 28, 2024
Preferred Name

Angelman syndrome
Synonyms

Angelman's syndrome

Angelman syndrome (disorder)

Happy puppet syndrome

ID

http://purl.bioontology.org/ontology/SNOMEDCT/76880004

Active

1

altLabel

Angelman's syndrome

Angelman syndrome (disorder)

Happy puppet syndrome

CASE SIGNIFICANCE ID

900000000000448009

900000000000017005

CTV3ID

PKyz5

cui

C0162635

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/49755003

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/89545001

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

Has interpretation

http://purl.bioontology.org/ontology/SNOMEDCT/260379002

Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/308490002

interprets

http://purl.bioontology.org/ontology/SNOMEDCT/406208005

http://purl.bioontology.org/ontology/SNOMEDCT/247573007

notation

76880004

Occurs in

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

prefLabel

Angelman syndrome

Subset member

447562003~MAPRULE~TRUE

6011000124106~MAPTARGET~Q93.51

6011000124106~MAPGROUP~1

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

6011000124106~MAPADVICE~ALWAYS Q93.5

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

447562003~MAPADVICE~ALWAYS Q93.5

447562003~MAPCATEGORYID~447637006

6011000124106~MAPTARGET~Q93.5

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

447562003~MAPTARGET~Q93.5

6011000124106~MAPADVICE~ALWAYS Q93.51

6011000124106~MAPRULE~TRUE

900000000000509007~ACCEPTABILITYID~900000000000549004

900000000000497000~MAPTARGET~PKyz5

tui

T047

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/782964007

http://purl.bioontology.org/ontology/SNOMEDCT/88425004

http://purl.bioontology.org/ontology/SNOMEDCT/65094009

http://purl.bioontology.org/ontology/SNOMEDCT/110359009

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Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNMI/D4-00624 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/76880004 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/105830 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10049004 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10052652 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q93.51 ICD10CM CUI
http://purl.bioontology.org/ontology/MESH/D017204 MESH CUI
http://purl.bioontology.org/ontology/RCD/PKyz5 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10049004 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003551 NDFRT CUI
http://purl.bioontology.org/ontology/CSP/4008-0043 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D017204 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10052652 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/601623 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10052652 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10049004 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/76880004 NLMVS SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007113 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_1932 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017204 RH-MESH LOOM
rgo:23699 GAMUTS LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00624 SNMI LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 DOVES LOOM
http://purl.jp/bio/4/id/200906032858933884 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.095 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Angelman_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/OMIT_0017595 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039977 PMAPP-PMO LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_502 ASDPTO LOOM
http://nanbyodata.jp/ontology/NANDO_2200960 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/105830 OMIM LOOM
http://identifiers.org/omim/105830 REXO LOOM
http://identifiers.org/omim/105830 GEXO LOOM
http://identifiers.org/omim/105830 RETO LOOM
http://www.projecthalo.com/aura#Angelman-Syndrome AURA LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q93.51 ICD10CM LOOM
http://purl.obolibrary.org/obo/NCIT_C75462 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D017204 MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200686 NANDO LOOM
http://www.orpha.net/ORDO/Orphanet_72 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.040 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.662.075 RH-MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Angelman_Syndrome PEDTERM LOOM
http://localhost/plosthes.2017-1#6845 PLOSTHES LOOM
urn:agi-folder:angelman_syndrome BPT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#17919 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0162635 OCHV LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1932 NATPRO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Angelman_Syndrome ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Angelman_Syndrome MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Angelman_Syndrome EPISEM LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14766 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.040 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75462 NCIT LOOM
http://purl.obolibrary.org/obo/OMIM_105830 CCO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_90 HRDO LOOM
http://id.nlm.nih.gov/mesh/D017204 MDM LOOM
http://purl.obolibrary.org/obo/DOID_1932 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1932 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1932 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1932 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1932 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_1932 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1932 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1932 FNS-H LOOM
http://www.gamuts.net/entity#Angelman_syndrome GAMUTS REST