Galactosaemia - CISMeF

Preferred Label : Galactosaemia;

ICD-11 definition : Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms).;

Details

Origin ID

2080157631;

Currated CISMeF NLP mapping
- Galactosaemia [MedDRA Preferred Term]
- Galactose intolerance [HPO term]
- Galactose intolerance [MedDRA Preferred Term]
- Galactosemia [ORDO Disease]
- Galactosemia [PASCAL descriptor]
- Galactosemia [MedDRA LLT]
- Galactosemia [NCIt concept]
- Galactosemia [ICD-9 code]
- Galactosemia [OMIM phenotypic series]
- Galactosemia (disorder) [SNOMED CT concept]
- Galactosemia I [OMIM Phenotype]
- Galactosemias [LOINC component]
- galactosemia [DO Concept]
- galactosemia [Disease (Nov.)]
- galactosemia, nos [SNOMED Notion]
- galactosemias [MeSH concept]
- galactosemias [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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