Fructose-1,6-Diphosphatase deficiency

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

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0023587;

UMLS CUI

C0016756;

Broader MeSH concept(s)
- deficiency, hexosediphosphatase [MeSH concept]
Currated CISMeF NLP mapping
- Disorders of fructose metabolism [ICD-10 Sub-category]
- Disorders of fructose metabolism [ICD-10 Sub-category (who)]
- Fructose-1,6-Bisphosphatase Deficiency [NCIt concept]
- Fructose-1,6-bisphosphatase deficiency [ORDO Disease]
- Fructose-1,6-bisphosphatase deficiency [OMIM Phenotype]
- Fructose-1,6-diphosphatase deficiency [ICD-11 More detail]
- Fructose-biphosphatase deficiency (disorder) [SNOMED CT concept]
- fructose-1,6-bisphosphatase deficiency [DO Concept]
- fructose-biphosphatase deficiency [SNOMED Notion]
Related record
- fructose-1,6-diphosphatase deficiency [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fructose-1,6-Bisphosphatase Deficiency [NCIt concept]
- Fructose-1,6-bisphosphatase deficiency [OMIM Phenotype]
- Fructose-1,6-bisphosphatase deficiency [ORDO Disease]
- Fructose-1,6-bisphosphatase deficiency [MedDRA Preferred Term]
- Fructose-1,6-diphosphatase deficiency [ICD-11 More detail]
- Fructose-biphosphatase deficiency (disorder) [SNOMED CT concept]
- fructose-1,6-bisphosphatase deficiency [DO Concept]
- fructose-biphosphatase deficiency [SNOMED Notion]
- fructose-bisphosphatase 1 [ORDO Gene]
Validated automatic mappings to NTBT
- disorders of fructose metabolism [Error of metabolism category]
- fructose metabolism disorder [Disease (Nov.)]