Galactokinase Deficiency

Preferred Label : Galactokinase Deficiency;

NCIt synonyms : GALK Deficiency; Galactosemia Type 2;

NCIt definition : An autosomal recessive disorder caused by mutations in the GALK1 gene. The disorder is characterized by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. Its major clinical symptom is the development of cataracts during the first weeks or months of life.;

Details

Origin ID

C114767;

UMLS CUI

C0268155;

Automatic exact mappings (from CISMeF team)
- galactosemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Deficiency of galactokinase (disorder) [SNOMED CT concept]
- Galactokinase deficiency [LOINC component]
- Galactokinase deficiency [ICD-11 Sub-sub category]
- Galactokinase deficiency [ORDO Disease]
- Galactosemia II [OMIM Phenotype]
- galactokinase deficiency [DO Concept]
- galactokinase deficiency disease [MeSH concept]
- galactokinase deficiency galactosemia [SNOMED Notion]
DO Cross reference
- galactokinase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of galactokinase (disorder) [SNOMED CT concept]
- Galactokinase deficiency [ORDO Disease]
- Galactokinase deficiency [LOINC component]
- Galactokinase deficiency [ICD-11 Sub-sub category]
- Galactosemia II [OMIM Phenotype]
- galactokinase deficiency [DO Concept]
- galactokinase deficiency disease [MeSH concept]
- galactokinase deficiency galactosemia [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- GALK1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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