SNOMED CT

Last uploaded: January 31, 2024
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Preferred Name

Dyskeratosis congenita
Synonyms

Dyskeratosis congenita (disorder)

Zinsser-Cole-Engman syndrome
ID

http://purl.bioontology.org/ontology/SNOMEDCT/74911008
Active

1
altLabel

Dyskeratosis congenita (disorder)

DKC - Dyskeratosis congenita

Congenital dyskeratosis

Zinsser-Cole-Engmann syndrome

Cole-Engmann-Zinsser syndrome

Zinsser-Cole-Engman syndrome
CASE SIGNIFICANCE ID

900000000000020002

900000000000448009

900000000000017005
CTV3ID

X20Di
cui

C0265965
DEFINITION STATUS ID

900000000000074008
Effective time

20020131
Has associated morphology

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

http://purl.bioontology.org/ontology/SNOMEDCT/2097009
Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/39937001

http://purl.bioontology.org/ontology/SNOMEDCT/63206006
Has pathological process

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

74911008
Occurs in

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

Dyskeratosis congenita
Subset member

900000000000497000~MAPTARGET~X20Di

447562003~MAPRULE~TRUE

6011000124106~MAPGROUP~1

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

6011000124106~MAPTARGET~Q82.8

6011000124106~MAPTARGET~Q87.89

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPTARGET~Q82.8

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

6011000124106~MAPADVICE~IF REVESZ SYNDROME CHOOSE Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~OTHERWISE TRUE

447562003~MAPADVICE~ALWAYS Q82.8

6011000124106~MAPCATEGORYID~447639009

6011000124106~MAPRULE~IFA 723512008 | Revesz syndrome |

6011000124106~MAPPRIORITY~1

6011000124106~MAPADVICE~ALWAYS Q82.8

6011000124106~CORRELATIONID~447561005

6011000124106~MAPRULE~TRUE

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPPRIORITY~2
tui

T047
Type ID

900000000000003001

900000000000013009
subClassOf

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

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

http://purl.bioontology.org/ontology/SNOMEDCT/8654005

http://purl.bioontology.org/ontology/SNOMEDCT/95324001

http://purl.bioontology.org/ontology/SNOMEDCT/363185004
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10062759 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10062759 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D019871 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-40140 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/74911008 SCTSPA CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000285967 PDQ CUI
http://purl.bioontology.org/ontology/MDRFRE/10062759 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X20Di RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D019871 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003963 NDFRT CUI
http://purl.obolibrary.org/obo/MONDO_0015780 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0015780 EFO LOOM
http://nanbyodata.jp/ontology/NANDO_2200715 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200304 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200342 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_2729 DOID LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036614 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D019871 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.108 RH-MESH LOOM
http://www.gamuts.net/entity#dyskeratosis_congenita GAMUTS LOOM
http://www.orpha.net/ORDO/Orphanet_1775 ORDO LOOM
http://purl.obolibrary.org/obo/DERMO_0000373 DERMO LOOM
http://purl.obolibrary.org/obo/OMIT_0019843 OMIT LOOM
http://purl.bioontology.org/ontology/MESH/D019871 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C111802 NCIT LOOM
http://purl.jp/bio/4/id/200906048921318161 IOBC LOOM
http://purl.bioontology.org/ontology/SNMI/D4-40140 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.150 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265965 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17740 DERMLEX LOOM
http://purl.obolibrary.org/obo/MONDO_0015780 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.235 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.235 RH-MESH LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000285967 PDQ LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2729 NATPRO LOOM
http://purl.bioontology.org/ontology/RCTV2/PH33700 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/X20Di RCD LOOM
http://www.limics.org/hrdo/rdfns#pat_id_477 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.150 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#25969 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C111802 BERO LOOM
http://purl.obolibrary.org/obo/DOID_2729 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2729 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2729 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2729 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2729 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2729 FNS-H LOOM
http://www.gamuts.net/entity#congenital_dyskeratosis GAMUTS REST
http://www.gamuts.net/entity#dyskeratosis_congenita GAMUTS REST