Galactokinase deficiency

ICD-11 code : 5C51.41;

Preferred Label : Galactokinase deficiency;

ICD-11 definition : Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.;

ICD-11 synonym : GALK - [galactokinase deficiency]; galactosaemia deficiency;

ICD-11 acronym : GALK;

Details

Origin ID

1173858031;

UMLS CUI

C0268155;

Automatic exact mappings (from CISMeF team)
- GALK1 wt Allele [NCIt concept]
- Galactokinase [NCIt concept]
- Galactokinase 1 [OMIM gene]
Currated CISMeF NLP mapping
- Deficiency of galactokinase (disorder) [SNOMED CT concept]
- Galactokinase Deficiency [NCIt concept]
- Galactokinase deficiency [LOINC component]
- Galactokinase deficiency [ORDO Disease]
- Galactosemia II [OMIM Phenotype]
- galactokinase deficiency [DO Concept]
- galactokinase deficiency disease [MeSH concept]
- galactokinase deficiency galactosemia [SNOMED Notion]
ICD-10 Mapping
- Disorders of galactose metabolism [ICD-10 Sub-category]
See also inter- (CISMeF)
- galactokinase 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of galactokinase (disorder) [SNOMED CT concept]
- Galactokinase Deficiency [NCIt concept]
- Galactokinase deficiency [LOINC component]
- Galactokinase deficiency [ORDO Disease]
- Galactosemia II [OMIM Phenotype]
- galactokinase deficiency [DO Concept]
- galactokinase deficiency disease [MeSH concept]
- galactokinase deficiency 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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