SNOMED CT

Last uploaded: January 31, 2024

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Preferred Name	Chondroectodermal dysplasia
Synonyms	Ellis-van Creveld syndrome Chondroectodermal dysplasia (disorder)
ID	http://purl.bioontology.org/ontology/SNOMEDCT/62501005
Active	1
altLabel	Ellis-van Creveld syndrome EVC - Ellis-van Creveld syndrome Chondroectodermal dysplasia (disorder)
CASE SIGNIFICANCE ID	900000000000448009 900000000000017005
CTV3ID	PG55.
cui	C0013903
DEFINITION STATUS ID	900000000000074008
Effective time	20020131
Has associated morphology	http://purl.bioontology.org/ontology/SNOMEDCT/25723000 http://purl.bioontology.org/ontology/SNOMEDCT/49755003
Has finding site	http://purl.bioontology.org/ontology/SNOMEDCT/770802007 http://purl.bioontology.org/ontology/SNOMEDCT/39937001 http://purl.bioontology.org/ontology/SNOMEDCT/272673000 http://purl.bioontology.org/ontology/SNOMEDCT/38199008 http://purl.bioontology.org/ontology/SNOMEDCT/386045008 http://purl.bioontology.org/ontology/SNOMEDCT/63206006
Has pathological process	http://purl.bioontology.org/ontology/SNOMEDCT/308490002
notation	62501005
Occurs in	http://purl.bioontology.org/ontology/SNOMEDCT/255399007
prefLabel	Chondroectodermal dysplasia
Subset member	447562003~MAPRULE~TRUE 447562003~MAPADVICE~ALWAYS Q77.6 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~H53.63 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 447562003~MAPTARGET~Q77.6 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 6011000124106~MAPADVICE~ALWAYS Q77.6 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~IF CHONDROECTODERMAL DYSPLASIA WITH NIGHT BLINDNESS SYNDROME CHOOSE H53.63 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~Q77.6 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF CHONDROECTODERMAL DYSPLASIA WITH NIGHT BLINDNESS SYNDROME CHOOSE Q77.6 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPRULE~IFA 763134002 \| Chondroectodermal dysplasia with night blindness syndrome \| 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 900000000000497000~MAPTARGET~PG55. 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2
tui	T047
Type ID	900000000000003001 900000000000013009
subClassOf	http://purl.bioontology.org/ontology/SNOMEDCT/8447006 http://purl.bioontology.org/ontology/SNOMEDCT/95324001 http://purl.bioontology.org/ontology/SNOMEDCT/105985007 http://purl.bioontology.org/ontology/SNOMEDCT/239015008 http://purl.bioontology.org/ontology/SNOMEDCT/105986008

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10076418	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10008724	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/62501005	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10008724	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10008724	MEDDRA	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.6	ICD10CM	CUI
http://purl.bioontology.org/ontology/MSHFRE/D004613	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/PG55.	RCD	CUI
http://purl.bioontology.org/ontology/OMIM/607261	OMIM	CUI
http://purl.bioontology.org/ontology/ICD10/Q77.6	ICD10	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001065	NDFRT	CUI
http://purl.bioontology.org/ontology/MESH/D004613	MESH	CUI
http://purl.bioontology.org/ontology/ICD9CM/756.55	ICD9CM	CUI
http://purl.bioontology.org/ontology/OMIM/225500	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10076418	MDRFRE	CUI
http://purl.bioontology.org/ontology/OMIM/604831	OMIM	CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A25	SNMI	CUI
http://purl.bioontology.org/ontology/MEDDRA/10076418	MEDDRA	CUI
http://purl.org/skeletome/bonedysplasia#Chondroectodermal_dysplasia	BDO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10008724	MEDDRA	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.6	ICD10CM	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Chondroectodermal_Dysplasia	PEDTERM	LOOM
http://purl.bioontology.org/ontology/RCD/PG55.	RCD	LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.6	ICD10	LOOM
http://purl.bioontology.org/ontology/ICD9CM/756.55	ICD9CM	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG55.00	RCTV2	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A25	SNMI	LOOM
http://www.gamuts.net/entity#Ellis_van_Creveld_syndrome	GAMUTS	REST