SNOMED CT

Last uploaded: August 28, 2024
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Preferred Name

Rothmund-Thomson syndrome
Synonyms

Rothmund-Thomson syndrome (disorder)

Poikiloderma congenitale syndrome

Poikiloderma congenitale
ID

http://purl.bioontology.org/ontology/SNOMEDCT/69093006
Active

1
altLabel

Rothmund-Thomson syndrome (disorder)

Poikiloderma congenitale syndrome

Poikiloderma congenitale
CASE SIGNIFICANCE ID

900000000000448009

900000000000017005
CTV3ID

PH320
cui

C0032339
DEFINITION STATUS ID

900000000000074008
Effective time

20020131
Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/70114006
Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/39937001
Has pathological process

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

69093006
Occurs in

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

Rothmund-Thomson syndrome
Subset member

447562003~MAPRULE~TRUE

6011000124106~MAPGROUP~1

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

6011000124106~MAPTARGET~Q82.8

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPTARGET~Q82.8

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

447562003~MAPADVICE~ALWAYS Q82.8

900000000000497000~MAPTARGET~PH320

6011000124106~MAPPRIORITY~1

6011000124106~MAPADVICE~ALWAYS Q82.8

6011000124106~CORRELATIONID~447561005

6011000124106~MAPRULE~TRUE

900000000000509007~ACCEPTABILITYID~900000000000549004
tui

T047
Type ID

900000000000003001

900000000000013009
subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/12674005

http://purl.bioontology.org/ontology/SNOMEDCT/699346009

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

http://purl.bioontology.org/ontology/SNOMEDCT/239001006

http://purl.bioontology.org/ontology/SNOMEDCT/363185004

http://purl.bioontology.org/ontology/SNOMEDCT/402685001
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D011038 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/69093006 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU046823 OMIM CUI
http://purl.bioontology.org/ontology/RCD/PH320 RCD CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000654676 PDQ CUI
http://purl.bioontology.org/ontology/OMIM/618625 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D4-00403 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10052510 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D011038 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10052465 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10052510 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/268400 OMIM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000171676 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10052465 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q82.8 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10052465 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10052510 MDRFRE CUI
http://purl.obolibrary.org/obo/DOID_2732 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010002 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.765 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_268400 CCO LOOM
http://purl.bioontology.org/ontology/RCD/PH320 RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.760 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.775 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200671 NANDO LOOM
http://purl.obolibrary.org/obo/OMIT_0012011 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D011038 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038520 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C3335 BERO LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000654676 PDQ LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9884 OCHV LOOM
http://purl.obolibrary.org/obo/DERMO_0000620 DERMO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00403 SNMI LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14438 DERMLEX LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2732 NATPRO LOOM
http://identifiers.org/omim/268400 REXO LOOM
http://identifiers.org/omim/268400 GEXO LOOM
http://identifiers.org/omim/268400 RETO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2785 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.614.760 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PH33300 RCTV2 LOOM
http://id.nlm.nih.gov/mesh/D011038 MDM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0032339 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10052510 MEDDRA LOOM
http://purl.bioontology.org/ontology/MESH/D011038 MESH LOOM
rgo:08745 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3335 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0010002 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010002 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010002 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.775 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_2732 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2732 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2732 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2732 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2732 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2732 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2732 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2732 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.775 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_2909 ORDO LOOM
http://www.gamuts.net/entity#Rothmund_Thomson_syndrome GAMUTS REST