Galactokinase deficiency

Preferred Label : Galactokinase deficiency;

LOINC status : ACTIVE;

Synonyme UMLS : Galactosemia II; GALK - Galactokinase deficiency; Galactosemia - galactokinase deficiency; Galactokinase deficiency galactosaemia; Galactokinase deficiency galactosemia; Galactosaemia II; GALK; Deficiency of galactokinase;

UMLS MTHU# : MTHU021612;

Details

Origin ID

LP56782-3;

UMLS CUI

C0268155;

Automatic exact mappings (from CISMeF team)
- Disorders of galactose metabolism [ICD-10 Sub-category (who)]
- GALK1 wt Allele [NCIt concept]
- Galactokinase [NCIt concept]
- Galactokinase 1 [OMIM gene]
- galactokinase 1 [ORDO Gene]
- galactosemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Deficiency of galactokinase (disorder) [SNOMED CT concept]
- Galactokinase Deficiency [NCIt concept]
- 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]
Has phenotype(s) (HPO)
- Neonatal jaundice [HPO term]
LOINC code(s)
- Galactokinase deficiency:Imp:Pt:Bld.dot:Ord: [LOINC code]
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 [ORDO Disease]
- 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]

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