SNOMED CT

Last uploaded: January 31, 2024
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Preferred Name

Bardet-Biedl syndrome
Synonyms

Bardet-Biedl syndrome (disorder)
ID

http://purl.bioontology.org/ontology/SNOMEDCT/5619004
Active

1
altLabel

Bardet-Biedl syndrome (disorder)

LMBB - Laurence-Moon-Bardet-Biedl syndrome

Laurence-Moon-Biedl syndrome

Biedl-Bardet syndrome
CASE SIGNIFICANCE ID

900000000000017005
CTV3ID

PKy1.
cui

C0023138

C0752166
DEFINITION STATUS ID

900000000000074008
Effective time

20020131
Has associated morphology

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

5619004
Occurs in

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

Bardet-Biedl syndrome
Subset member

447562003~MAPRULE~TRUE

6011000124106~MAPGROUP~1

6011000124106~MAPADVICE~ALWAYS Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPTARGET~Q87.8

447562003~MAPGROUP~1

6011000124106~MAPTARGET~Q87.89

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

900000000000497000~MAPTARGET~PKy1.

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

447562003~MAPADVICE~ALWAYS Q87.8

6011000124106~MAPRULE~TRUE

900000000000509007~ACCEPTABILITYID~900000000000549004
tui

T047
Type ID

900000000000003001

900000000000013009
subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/363070008

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

http://purl.bioontology.org/ontology/SNOMEDCT/82354003

http://purl.bioontology.org/ontology/SNOMEDCT/110359009
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10056710 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10056715 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/5619004 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10056710 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D007849 MESH CUI
http://purl.bioontology.org/ontology/CSP/1840-2225 CRISP CUI
http://purl.bioontology.org/ontology/OMIM/603197 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D4-01205 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/232059000 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D007849 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/X00e1 RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.84 ICD10CM CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10056710 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001790 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/245800 OMIM CUI
http://purl.bioontology.org/ontology/RCD/PKy1. RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10048680 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10056715 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D020788 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/5619004 SCTSPA CUI
http://purl.bioontology.org/ontology/CSP/2586-8835 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D4-01205 SNMI CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D020788 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10056715 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10048680 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004188 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10048680 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.83 ICD10CM CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/RCD/PKy1. RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/5619004 NLMVS SAME_URI
http://purl.obolibrary.org/obo/DOID_1935 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200414 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0015229 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0015229 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015229 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0015229 KTAO LOOM
http://identifiers.org/omim/209900 REXO LOOM
http://identifiers.org/omim/209900 GEXO LOOM
http://identifiers.org/omim/209900 RETO LOOM
http://purl.bioontology.org/ontology/MESH/D020788 MESH LOOM
http://purl.obolibrary.org/obo/DOID_1935 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1935 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1935 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1935 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1935 FNS-H LOOM
http://id.nlm.nih.gov/mesh/D020788 MDM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3244 HRDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-01205 SNMI LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038266 PMAPP-PMO LOOM
http://www.gamuts.net/entity#Bardet_Biedl_syndrome GAMUTS LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1935 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0752166 OCHV LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_4 HAMIDEHSGH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10048680 MEDDRA LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14622 DERMLEX LOOM
http://www.orpha.net/ORDO/Orphanet_110 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020788 RH-MESH LOOM
http://purl.jp/bio/4/id/200906047359269016 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0020632 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118632 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.83 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.112 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C118632 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#48542 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.617.200 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_209900 CCO LOOM
http://www.gamuts.net/entity#Bardet_Biedl_syndrome GAMUTS REST