UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency

Preferred Label : UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency;

NCIt definition : An inherited metabolic disorder characterized by increased levels of galactose in the blood. Clinical signs include failure to thrive, developmental delays, liver damage and jaundice, cataract, and ovarian failure.;

NCI Metathesaurus CUI : CL432934;

Details

Origin ID

C99104;

UMLS CUI

C0268151;

Automatic exact mappings (from CISMeF team)
- Classical galactosemia [LOINC component]
- Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder) [SNOMED CT concept]
- Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) [SNOMED CT concept]
- galactosemias [MeSH Descriptor]
DO Cross reference
- classic galactosemia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic galactosemia [ORDO Disease]
- Classical galactosemia [LOINC component]
- Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder) [SNOMED CT concept]
- Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) [SNOMED CT concept]
- Galactose-1-Phosphate Uridyl-Transferase deficiency disease [MeSH concept]
- Galactose-1-phosphate uridyltransferase deficiency [ICD-11 Sub-sub category]
- Galactosemia I [OMIM Phenotype]
- classic galactosemia [DO Concept]
- classical galactosemia [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
related_to_genetic_biomarker
- GALT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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