SNOMED CT

Last uploaded: August 28, 2024

Preferred Name	Single gene defect
Synonyms	Single gene defect (qualifier value)
ID	http://purl.bioontology.org/ontology/SNOMEDCT/264572004
Active	1
altLabel	Single gene defect (qualifier value)
CASE SIGNIFICANCE ID	900000000000448009
CTV3ID	XC0fH
cui	C0037176
DEFINITION STATUS ID	900000000000074008
Effective time	20020131
notation	264572004
prefLabel	Single gene defect
Subset member	900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 900000000000497000~MAPTARGET~XC0fH
tui	T047
Type ID	900000000000003001 900000000000013009
subClassOf	http://purl.bioontology.org/ontology/SNOMEDCT/255395001 http://purl.bioontology.org/ontology/SNOMEDCT/303109001

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/264572004	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/D030342	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D030342	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/XC0fH	RCD	CUI
http://purl.bioontology.org/ontology/RCD/XC0fH	RCD	LOOM