fructose-1,6-diphosphatase deficiency

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

MeSH definition : An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.;

MeSH synonym : fructose-biphosphatase deficiency; fructose-biphosphatase deficiencies; deficiency, fructosediphosphatase; fructosediphosphatase deficiencies; fructose-1,6-diphosphatase deficiencies; deficiencies, fructose-1,6-diphosphatase; deficiency, fructose-1,6-diphosphatase; fructosediphosphatase deficiency; deficiencies, fructosediphosphatase; deficiencies, fructose-biphosphatase; deficiency, fructose-biphosphatase; fructose biphosphatase deficiency; fructose-1,6-bisphosphatase deficiency; deficiencies, fructose-1,6-bisphosphatase; deficiency, fructose-1,6-bisphosphatase; fructose 1,6 bisphosphatase deficiency; fructose-1,6-bisphosphatase deficiencies; fructose 1,6 diphosphatase deficiency;

Wikipedia automatic translation : Fructose bisphosphatase deficiency;

MeSH Hyperonym : deficiency, hexosediphosphatase; Deficiencies, Hexosediphosphatase; Hexosediphosphatase Deficiencies; Hexosediphosphatase Deficiency;

MeSH annotation : an inborn error of fructose metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: FDP DEFIC;

Wikipedia link : https://en.wikipedia.org/wiki/Fructose bisphosphatase deficiency;

Details

Origin ID

D015319;

UMLS CUI

C0016756;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Deficiency of fructose-bisphosphatase (disorder) [SNOMED CT concept]
- Fructose-1,6-bisphosphatase deficiency [MedDRA Preferred Term]
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]
DO Cross reference
- fructose-1,6-bisphosphatase deficiency [DO Concept]
Manual NTBT mappings (CISMeF)
- Gluconeogenesis disorder [ORDO Disease]
MeSH Descriptor(s) used for indexing
- Fructose-Bisphosphatase [MeSH Descriptor]
Record concept(s)
- Fructose-1,6-Diphosphatase deficiency [MeSH concept]
- deficiency, hexosediphosphatase [MeSH concept]
Related MeSH Supplementary Concept(s)
- Baker-Winegrad disease [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- fructosediphosphates [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.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients