SNOMED Terminos Clinicos

Last uploaded: January 31, 2024

Preferred Name	deficiencia de UTP-hexosa-1-fosfato uridililtransferasa
Synonyms	deficiencia de uridina trifosfato-hexosa-1-fosfato uridililtransferasa deficiencia de uridina trifosfato-hexosa-1-fosfato uridililtransferasa (trastorno)
ID	http://purl.bioontology.org/ontology/SCTSPA/398664009
Active	1
altLabel	deficiencia de uridina trifosfato-hexosa-1-fosfato uridililtransferasa deficiencia de uridina trifosfato-hexosa-1-fosfato uridililtransferasa (trastorno)
CASE SIGNIFICANCE ID	900000000000020002 900000000000448009 900000000000017005
cui	C0268151
DEFINITION STATUS ID	900000000000074008
Effective time	20030731
Has causative agent	http://purl.bioontology.org/ontology/SCTSPA/29262004
Module ID	450829007
notation	398664009
prefLabel	deficiencia de UTP-hexosa-1-fosfato uridililtransferasa
Subset member	450828004~ACCEPTABILITYID~900000000000549004 450828004~ACCEPTABILITYID~900000000000548007
tui	T047
Type ID	900000000000003001 900000000000013009
subClassOf	http://purl.bioontology.org/ontology/SCTSPA/124237001

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D005693	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D005693	MESH	CUI
http://purl.bioontology.org/ontology/OMIM/230400	OMIM	CUI
http://purl.bioontology.org/ontology/LNC/LA21165-8	LOINC	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012910	OMIM	CUI
http://purl.bioontology.org/ontology/LNC/LP56781-5	LOINC	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/398664009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/CSP/1849-3608	CRISP	CUI
http://purl.bioontology.org/ontology/SNMI/D6-50510	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124354006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/606999	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/C3110	RCD	CUI
http://purl.bioontology.org/ontology/LNC/MTHU021611	LOINC	CUI