SNOMED CT

Last uploaded: August 28, 2024

Preferred Name	Fabry's disease
Synonyms	Ruiter-Pompen syndrome Ceramide lactoside lipidosis GLA deficiency Alpha-galactosidase A deficiency Cardiovasorenal syndrome Thesaurismosis hereditaria Lactosyl ceramidosis Angiokeratoma corporis diffusum universale Fabry's disease (disorder) Anderson-Fabry disease Sweeley-Klionsky disease Ceramide trihexosidase deficiency Hereditary dystopic lipidosis alpha-Galactosidase-A deficiency Thesaurismosis lipoidica Fabry disease Angiokeratoma corporis diffusum
ID	http://purl.bioontology.org/ontology/SNOMEDCT/16652001
Active	1
altLabel	Ruiter-Pompen syndrome Ceramide lactoside lipidosis GLA deficiency Alpha-galactosidase A deficiency Cardiovasorenal syndrome Thesaurismosis hereditaria Lactosyl ceramidosis Angiokeratoma corporis diffusum universale Fabry's disease (disorder) Anderson-Fabry disease Sweeley-Klionsky disease Ceramide trihexosidase deficiency Hereditary dystopic lipidosis alpha-Galactosidase-A deficiency Thesaurismosis lipoidica Fabry disease Angiokeratoma corporis diffusum
CASE SIGNIFICANCE ID	900000000000448009 900000000000017005
Cause of	http://purl.bioontology.org/ontology/SNOMEDCT/838319005 http://purl.bioontology.org/ontology/SNOMEDCT/1003426008
CTV3ID	X40VJ
cui	C0002986
DEFINITION STATUS ID	900000000000074008
Effective time	20020131
Has associated morphology	http://purl.bioontology.org/ontology/SNOMEDCT/26810009
Has finding site	http://purl.bioontology.org/ontology/SNOMEDCT/28661005 http://purl.bioontology.org/ontology/SNOMEDCT/25087005 http://purl.bioontology.org/ontology/SNOMEDCT/397018003 http://purl.bioontology.org/ontology/SNOMEDCT/64033007
notation	16652001
Occurs in	http://purl.bioontology.org/ontology/SNOMEDCT/255399007
prefLabel	Fabry's disease
Subset member	447562003~MAPRULE~TRUE 447562003~MAPADVICE~ALWAYS E75.2 900000000000497000~MAPTARGET~X40VJ 6011000124106~MAPGROUP~1 447562003~MAPTARGET~E75.2 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~ALWAYS E75.21 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~E75.21 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004
tui	T047
Type ID	900000000000003001 900000000000013009
subClassOf	http://purl.bioontology.org/ontology/SNOMEDCT/367591000119105 http://purl.bioontology.org/ontology/SNOMEDCT/10741005 http://purl.bioontology.org/ontology/SNOMEDCT/254788004 http://purl.bioontology.org/ontology/SNOMEDCT/128430005 http://purl.bioontology.org/ontology/SNOMEDCT/62914000 http://purl.bioontology.org/ontology/SNOMEDCT/363005004 http://purl.bioontology.org/ontology/SNOMEDCT/238028008 http://purl.bioontology.org/ontology/SNOMEDCT/128190004 http://purl.bioontology.org/ontology/SNOMEDCT/106000008 http://purl.bioontology.org/ontology/SNOMEDCT/363185004

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/MTHU001048	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10002458	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/16652001	SCTSPA	CUI
http://purl.bioontology.org/ontology/LNC/LA14036-0	LOINC	CUI
http://purl.bioontology.org/ontology/MDRGER/10016016	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10002458	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/X40VJ	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10002458	MDRGER	CUI
http://purl.bioontology.org/ontology/OMIM/301500	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10016016	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74600	SNMI	CUI
http://purl.bioontology.org/ontology/MDRFRE/10071118	MDRFRE	CUI
http://purl.bioontology.org/ontology/LNC/MTHU036941	LOINC	CUI
http://purl.bioontology.org/ontology/MESH/D000795	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10071118	MEDDRA	CUI
http://purl.bioontology.org/ontology/LNC/LP113911-4	LOINC	CUI
http://purl.bioontology.org/ontology/OMIM/300644	OMIM	CUI
http://purl.bioontology.org/ontology/MDRGER/10071118	MDRGER	CUI
http://purl.bioontology.org/ontology/CSP/1849-9034	CRISP	CUI
http://purl.bioontology.org/ontology/MDRFRE/10016016	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.21	ICD10CM	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000411	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D000795	MSHFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/124464003	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10016016	MEDDRA	LOOM
http://purl.bioontology.org/ontology/SNMI/D6-74600	SNMI	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Fabry_s_Disease	PEDTERM	LOOM
http://purl.bioontology.org/ontology/CSP/1849-9034	CRISP	LOOM
http://purl.jp/bio/4/id/200906088444027259	IOBC	LOOM
http://www.gamuts.net/entity#Fabry_disease	GAMUTS	REST