Fructosuria, essential

Preferred Label : Fructosuria, essential;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ketohexokinase deficiency; Hepatic fructokinase deficiency;

Description : Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine (summary by Bonthron et al., 1994).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ketohexokinase gene (KHK, 614058.0001);

Laboratory abnormalities : Fructosuria;

Prefixed ID : #229800;

Details

Origin ID

229800;

UMLS CUI

C0268160;

Automatic exact mappings (from CISMeF team)
- essential fructosuria [DO Concept]
Currated CISMeF NLP mapping
- Deficiency of ketohexokinase (disorder) [SNOMED CT concept]
- Disorders of fructose metabolism [ICD-10 Sub-category]
- Disorders of fructose metabolism [ICD-10 Sub-category (who)]
- Essential fructosuria [ICD-11 More detail]
- Essential fructosuria [MedDRA Preferred Term]
- Essential fructosuria [ORDO Disease]
- Fructosuria [MeSH concept]
- Hepatic fructokinase deficiency (disorder) [SNOMED CT concept]
- essential benign fructosuria [SNOMED Notion]
- essential fructosuria [Disease (Nov.)]
- fructosuria [MeSH Supplementary Concept]
DO Cross reference
- essential fructosuria [DO Concept]
Genes related to phenotype
- Ketohexokinase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Impairment of fructose metabolism [HPO term]
ORDO concept(s)
- Essential fructosuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of fructokinase (disorder) [SNOMED CT concept]
- Deficiency of ketohexokinase (disorder) [SNOMED CT concept]
- Essential fructosuria [MedDRA Preferred Term]
- Essential fructosuria [ORDO Disease]
- Essential fructosuria [ICD-11 More detail]
- Fructosuria [MeSH concept]
- Fructosuria (disorder) [SNOMED CT concept]
- Hepatic fructokinase deficiency (disorder) [SNOMED CT concept]
- essential benign fructosuria [SNOMED Notion]
- essential fructosuria [Disease (Nov.)]
- essential fructosuria [DO Concept]
- fructosuria [MeSH Supplementary Concept]
- fructosuria [SNOMED Notion]
Validated automatic mappings to NTBT
- fructose metabolism disorder [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients