Fructose-1,6-diphosphatase deficiency

Preferred Label : Fructose-1,6-diphosphatase deficiency;

ICD-11 definition : Fructose 1,6 diphosphatase deficiency is an autosomal recessive disorder of neoglucogenesis. It is characterized by recurrent, and sometimes life-threatening, episodes of fasting hypoglycemia with lactic acidosis. Patients are asymptomatic between episodes or after ingestion of fructose. Treatment is based on frequent feeding for infants and young children with a diet enriched with glucose or maltodextrin and limited in fructose.;

ICD-11 synonym : Fructose-1,6-bisphosphatase deficiency;

Details

Origin ID

2128680017;

UMLS CUI

C0016756;

Automatic exact mappings (from CISMeF team)
- Fructose-1,6-bisphosphatase deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Fructose-1,6-Bisphosphatase Deficiency [NCIt concept]
- Fructose-1,6-Diphosphatase deficiency [MeSH concept]
- Fructose-1,6-bisphosphatase deficiency [ORDO Disease]
- Fructose-1,6-bisphosphatase deficiency [OMIM Phenotype]
- Fructose-biphosphatase deficiency (disorder) [SNOMED CT concept]
- fructose-1,6-bisphosphatase deficiency [DO Concept]
- fructose-1,6-diphosphatase deficiency [MeSH Descriptor]
- fructose-biphosphatase deficiency [SNOMED Notion]
See also inter- (CISMeF)
- fructose-bisphosphatase 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fructose-1,6-Bisphosphatase Deficiency [NCIt concept]
- Fructose-1,6-Diphosphatase deficiency [MeSH concept]
- Fructose-1,6-bisphosphatase deficiency [OMIM Phenotype]
- Fructose-1,6-bisphosphatase deficiency [ORDO Disease]
- Fructose-1,6-bisphosphatase deficiency [MedDRA Preferred Term]
- Fructose-biphosphatase deficiency (disorder) [SNOMED CT concept]
- fructose-1,6-bisphosphatase deficiency [DO Concept]
- fructose-1,6-diphosphatase deficiency [MeSH Descriptor]
- fructose-biphosphatase deficiency [SNOMED Notion]
- fructose-bisphosphatase 1 [ORDO Gene]
Validated automatic mappings to NTBT
- Disorders of fructose metabolism [ICD-10 Sub-category (who)]

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