Galactose-1-phosphate uridyltransferase deficiency

ICD-11 code : 5C51.40;

Preferred Label : Galactose-1-phosphate uridyltransferase deficiency;

ICD-11 definition : Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.;

ICD-11 synonym : Classical galactosaemia; GALPUT deficiency - [Galactose-4-phosphate uridyltransferase] deficiency; GALPUT deficiency deficiency;

ICD-11 inclusion : galactose-1-phosphate uridyl transferase deficiency; deficiency of galactose-1-phosphate uridylyltransferase;

Details

Origin ID

2011000259;

UMLS CUI

C0268151;

Automatic exact mappings (from CISMeF team)
- classic galactosemia [DO Concept]
Currated CISMeF NLP mapping
- 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]
- classical galactosemia [SNOMED Notion]
ICD-10 Mapping
- Disorders of galactose metabolism [ICD-10 Sub-category]
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]
- 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
- Disorder of galactose metabolism (disorder) [SNOMED CT concept]
- galactosemias [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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