Classical galactosemia

Preferred Label : Classical galactosemia;

LOINC status : ACTIVE;

Synonyme UMLS : Deficiency of galactose-1-phosphate uridylyltransferase; GALT; Classical galactosaemia; Deficiency of UTP-hexose-1-phosphate uridylyltransferase; UTP-hexose-1-phosphate uridyltransferase deficiency; Transferase deficiency galactosemia; Transferase deficiency galactosaemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; GALT deficiency; Galactose-1-phosphate uridyl transferase deficiency; Deficiency of hexose-1-phosphate uridylyltransferase; Galactose-1-phosphate uridyltransferase deficiency; Deficiency of uridyl transferase; Deficiency of galactose-1-phosphate uridyl transferase;

UMLS MTHU# : MTHU021611;

Details

Origin ID

LP56781-5;

UMLS CUI

C0268151;

Automatic exact mappings (from CISMeF team)
- GALT Gene [NCIt concept]
- Galactose-1-Phosphate Uridylyltransferase [NCIt concept]
- Galactose-1-phosphate uridylyltransferase [OMIM gene]
- Gut-Associated Lymphoid Tissue [NCIt concept]
- N-acetyllactosamine synthase activity [GO term]
- Transferase Deficiency Galactosemia [NCIt concept]
- UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency [NCIt concept]
- classic galactosemia [DO Concept]
- galactose-1-phosphate uridylyltransferase [ORDO Gene]
- galactosemias [MeSH Descriptor]
- gut associated lymphoid tissue [Artificial nutrition thesaurus concept]
- gut-associated lymphoid tissue [Radlex concept]
- gut-associated lymphoid tissue [COVID-19 Thesaurus concept]
Currated CISMeF NLP mapping
- Classic galactosemia [ORDO Disease]
- 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]
- classical galactosemia [SNOMED Notion]
False automatic mappings
- Gut-associated lymphoid tissue [FMA entity]
LOINC code(s)
- Classical galactosemia:Imp:Pt:Bld.dot:Ord: [LOINC code]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic galactosemia [ORDO Disease]
- 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]
- UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency [NCIt concept]
- classic galactosemia [DO Concept]
- classical galactosemia [SNOMED Notion]
Validated automatic mappings to NTBT
- Galactosemia I [OMIM Phenotype]
- galactosemias [MeSH Descriptor]

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