SNOMED Terminos Clinicos

Last uploaded: January 31, 2024
Preferred Name

deficiencia de UDP-glucosa-hexosa-1-fosfato uridililtransferasa

Synonyms

deficiencia de hexosa-1-fosfato uridililtransferasa

deficiencia de uridil transferasa

deficiencia de uridina difosfato-glucosa-hexosa-1-fosfato uridililtransferasa

galactosemia clásica

deficiencia de GALT

deficiencia de uridina difosfato-glucosa-hexosa-1-fosfato uridililtransferasa (trastorno)

ID

http://purl.bioontology.org/ontology/SCTSPA/124354006

Active

1

altLabel

deficiencia de hexosa-1-fosfato uridililtransferasa

deficiencia de uridil transferasa

deficiencia de uridina difosfato-glucosa-hexosa-1-fosfato uridililtransferasa

galactosemia clásica

deficiencia de GALT

deficiencia de uridina difosfato-glucosa-hexosa-1-fosfato uridililtransferasa (trastorno)

CASE SIGNIFICANCE ID

900000000000020002

900000000000448009

900000000000017005

cui

C0268151

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

Module ID

450829007

notation

124354006

prefLabel

deficiencia de UDP-glucosa-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

http://purl.bioontology.org/ontology/SCTSPA/190745006

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