SNOMED CT

Last uploaded: August 28, 2024
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Preferred Name

Weill-Marchesani syndrome
Synonyms

Weill-Marchesani syndrome (disorder)

Brachymorphy with spherophakia syndrome

Marchesani's syndrome

Brachydactyly-spherophakia syndrome

Spherophakia-brachymorphia syndrome
ID

http://purl.bioontology.org/ontology/SNOMEDCT/2884008
Active

1
altLabel

Weill-Marchesani syndrome (disorder)

Brachymorphy with spherophakia syndrome

Marchesani's syndrome

Brachydactyly-spherophakia syndrome

Spherophakia-brachymorphia syndrome
CASE SIGNIFICANCE ID

900000000000448009

900000000000017005
CTV3ID

XUB3x
cui

C0265313
DEFINITION STATUS ID

900000000000074008
Effective time

20020131
Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/25723000

http://purl.bioontology.org/ontology/SNOMEDCT/11182007

http://purl.bioontology.org/ontology/SNOMEDCT/38022006
Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/361367007

http://purl.bioontology.org/ontology/SNOMEDCT/272673000

http://purl.bioontology.org/ontology/SNOMEDCT/78076003
Has pathological process

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

2884008
Occurs in

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

Weill-Marchesani syndrome
Subset member

447562003~MAPRULE~TRUE

6011000124106~MAPADVICE~ALWAYS Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE

6011000124106~MAPTARGET~Q87.0

6011000124106~MAPGROUP~1

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

447562003~MAPTARGET~Q87.1

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

900000000000497000~MAPTARGET~XUB3x

447562003~MAPCATEGORYID~447637006

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

447562003~MAPADVICE~ALWAYS Q87.1

6011000124106~MAPRULE~TRUE

900000000000509007~ACCEPTABILITYID~900000000000549004
tui

T047
Type ID

900000000000003001

900000000000013009
subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/8447006

http://purl.bioontology.org/ontology/SNOMEDCT/105986008

http://purl.bioontology.org/ontology/SNOMEDCT/4465002

http://purl.bioontology.org/ontology/SNOMEDCT/43476002
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10064963 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10064963 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/2884008 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181084 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10064963 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D056846 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D056846 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-00D13 SNMI CUI
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050475 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_0050475 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050475 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050475 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050475 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050475 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050475 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10064963 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85226 NCIT LOOM
http://purl.obolibrary.org/obo/OMIT_0026748 OMIT LOOM
rgo:27316 GAMUTS LOOM
http://purl.jp/bio/4/id/200906081909173953 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.941 RH-MESH LOOM
http://localhost/plosthes.2017-1#10734 PLOSTHES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.921 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.957 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.842 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0018096 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018096 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018096 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018096 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056846 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036593 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C85226 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.899 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.887 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_3449 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3033 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D056846 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Weill-Marchesani_Syndrome CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.875 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00D13 SNMI LOOM
http://www.gamuts.net/entity#Weill_Marchesani_syndrome GAMUTS REST