SNOMED Terminos Clinicos

Last uploaded: January 31, 2024

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Preferred Name	enfermedad de Fabry
Synonyms	tesaurismosis lipoidica enfermedad de Anderson Fabry enfermedad de Sweeley - Klionsky sÃndrome de Ruiter - Pompen sÃndrome cardiovasorrenal lactosil ceramidosis tesaurismosis hereditaria deficiencia de alfa - galactosidasa A enfermedad de Fabry (trastorno) lipoidosis distÃ³pica hereditaria angioqueratoma corporis difuso universal enfermedad de Anderson - Fabry deficiencia de GLA deficiencia de ceramida trihexosidasa
ID	http://purl.bioontology.org/ontology/SCTSPA/16652001
Active	1
altLabel	tesaurismosis lipoidica enfermedad de Anderson Fabry enfermedad de Sweeley - Klionsky sÃndrome de Ruiter - Pompen sÃndrome cardiovasorrenal lactosil ceramidosis tesaurismosis hereditaria deficiencia de alfa - galactosidasa A enfermedad de Fabry (trastorno) lipoidosis distÃ³pica hereditaria angioqueratoma corporis difuso universal enfermedad de Anderson - Fabry deficiencia de GLA deficiencia de ceramida trihexosidasa
CASE SIGNIFICANCE ID	900000000000020002 900000000000448009 900000000000017005
Cause of	http://purl.bioontology.org/ontology/SCTSPA/1003426008 http://purl.bioontology.org/ontology/SCTSPA/838319005
cui	C0002986
DEFINITION STATUS ID	900000000000074008
Effective time	20020131
Has associated morphology	http://purl.bioontology.org/ontology/SCTSPA/26810009
Has finding site	http://purl.bioontology.org/ontology/SCTSPA/397018003 http://purl.bioontology.org/ontology/SCTSPA/64033007 http://purl.bioontology.org/ontology/SCTSPA/28661005 http://purl.bioontology.org/ontology/SCTSPA/25087005
Module ID	450829007
notation	16652001
Occurs in	http://purl.bioontology.org/ontology/SCTSPA/255399007
prefLabel	enfermedad de Fabry
Subset member	450828004~ACCEPTABILITYID~900000000000549004 450828004~ACCEPTABILITYID~900000000000548007
tui	T047
Type ID	900000000000003001 900000000000013009
subClassOf	http://purl.bioontology.org/ontology/SCTSPA/238028008 http://purl.bioontology.org/ontology/SCTSPA/363005004 http://purl.bioontology.org/ontology/SCTSPA/106000008 http://purl.bioontology.org/ontology/SCTSPA/367591000119105 http://purl.bioontology.org/ontology/SCTSPA/363185004 http://purl.bioontology.org/ontology/SCTSPA/128190004 http://purl.bioontology.org/ontology/SCTSPA/62914000 http://purl.bioontology.org/ontology/SCTSPA/10741005 http://purl.bioontology.org/ontology/SCTSPA/128430005 http://purl.bioontology.org/ontology/SCTSPA/254788004

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10071118	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10016016	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10002458	MDRGER	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU001048	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10002458	MDRFRE	CUI
http://purl.bioontology.org/ontology/LNC/LA14036-0	LOINC	CUI
http://purl.bioontology.org/ontology/MEDDRA/10002458	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/X40VJ	RCD	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/SNOMEDCT/16652001	SNOMEDCT	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/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/SNOMEDCT/124464003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000411	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D000795	MSHFRE	CUI