SNOMED CT, US Edition - Fabry's disease - Classes | NCBO BioPortal

SNOMED CT, US Edition

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/SNOMEDCT/16652001 http://purl.bioontology.org/ontology/SNOMEDCT/16652001
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 See more See less
Type	http://www.w3.org/2002/07/owl#Class

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 See more See less
prefLabel	Fabry's disease
Type ID	900000000000003001 900000000000013009
CASE SIGNIFICANCE ID	900000000000448009 900000000000017005
notation	16652001
Effective time	20020131
Active	1
Has finding site	http://purl.bioontology.org/ontology/SNOMEDCT/28661005 http://purl.bioontology.org/ontology/SNOMEDCT/25087005 http://purl.bioontology.org/ontology/SNOMEDCT/64033007
subClassOf	http://purl.bioontology.org/ontology/SNOMEDCT/367591000119105 http://purl.bioontology.org/ontology/SNOMEDCT/10741005 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 See more See less
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Cause of	http://purl.bioontology.org/ontology/SNOMEDCT/838319005 http://purl.bioontology.org/ontology/SNOMEDCT/1003426008
type	http://www.w3.org/2002/07/owl#Class
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 See more See less
DEFINITION STATUS ID	900000000000074008
tui	T047
CTV3ID	X40VJ
Occurs in	http://purl.bioontology.org/ontology/SNOMEDCT/255399007
cui	C0002986

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display