SNOMED CT

Last uploaded: April 29, 2019
Preferred Name

De Lange syndrome

Synonyms

De Lange syndrome (disorder)

ID

http://purl.bioontology.org/ontology/SNOMEDCT/40354009

Active

1

altLabel

De Lange syndrome (disorder)

Typus degenerativus amstelodamensis

Bruck-de Lange syndrome

Brachmann-de Lange syndrome

Cornelia de Lange syndrome

Amsterdam dwarf

Degenerative amstelodamensis typus

Degenerative amsterodamensis typus

CASE SIGNIFICANCE ID

900000000000017005

900000000000448009

900000000000020002

CTV3ID

PKy60

cui

C0270972

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/21390004

Has finding site

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

notation

40354009

Occurs in

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

prefLabel

De Lange syndrome

Subset member

6011000124106~MAPPRIORITY~1

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPTARGET~Q87.1

447562003~MAPGROUP~1

447562003~MAPCATEGORYID~447637006

6011000124106~MAPCATEGORYID~447637006

6011000124106~MAPRULE~TRUE

6011000124106~MAPADVICE~ALWAYS Q87.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPADVICE~ALWAYS Q87.1

6011000124106~MAPGROUP~1

6011000124106~CORRELATIONID~447561005

900000000000509007~ACCEPTABILITYID~900000000000549004

900000000000497000~MAPTARGET~PKy60

447562003~MAPTARGET~Q87.1

447562003~MAPRULE~TRUE

447562003~MAPPRIORITY~1

447562003~CORRELATIONID~447561005

900000000000508004~ACCEPTABILITYID~900000000000549004

tui

T047

Type ID

900000000000013009

900000000000003001

subClassOf

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

http://purl.bioontology.org/ontology/SNOMEDCT/41483000

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http://purl.bioontology.org/ontology/MEDDRA/10077707 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.1 ICD10CM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.210 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.210 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/122470 OMIM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.210 RH-MESH LOOM
http://purl.bioontology.org/ontology/NDFRT/N0000000900 NDFRT CUI
http://purl.bioontology.org/ontology/CSP/1354-8678 CRISP CUI
http://purl.bioontology.org/ontology/RCD/PKy60 RCD CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003635 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.272 RH-MESH LOOM
http://purl.org/skeletome/bonedysplasia#De_Lange_Syndrome BDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/40354009 NLMVS SAME_URI
http://purl.bioontology.org/ontology/SNMI/D4-00211 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D4-00211 SNMI LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#De_Lange_Syndrome PEDTERM LOOM
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10056354 MEDDRA CUI
http://purl.jp/bio/4/id/200906061196762235 IOBC LOOM
http://purl.jp/bio/4/id/200906061196762235 IOBC LOOM
http://purl.jp/bio/4/id/200906061196762235 IOBC LOOM
http://purl.bioontology.org/ontology/MESH/D003635 MESH CUI
http://purl.bioontology.org/ontology/MESH/D003635 MESH LOOM
http://purl.bioontology.org/ontology/CSP/2403-8925 CRISP CUI