OMOP Concept 4051523
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
StandardConditionSNOMED124354006Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 142688 | Deficiency of udpglucose-hexose-1-phosphate uridylyltransferase | Non-standard |
| Nebraska Lexicon | 124354006 | Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase | Non-standard |
Synonyms
Alternative names recorded for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase across source vocabularies.
- Classical galactosaemia
- Classical galactosemia
- deficiencia de GALT
- deficiencia de hexosa-1-fosfato uridililtransferasa
- deficiencia de UDP-glucosa-hexosa-1-fosfato uridililtransferasa
- deficiencia de uridil transferasa
- deficiencia de uridina difosfato-glucosa-hexosa-1-fosfato uridililtransferasa
- deficiencia de uridina difosfato-glucosa-hexosa-1-fosfato uridililtransferasa (trastorno)
- Deficiency of galactose-1-phosphate uridyl transferase
- Deficiency of hexose-1-phosphate uridylyltransferase
- Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase
- Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)
- Deficiency of uridyl transferase
- galactosemia clásica
- GALT deficiency
- Transferase deficiency galactosaemia
- Transferase deficiency galactosemia
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
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