fructose-biphosphatase deficiency - CISMeF

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CISMeF

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Fructose-biphosphatase deficiencySNOMED Notion

Preferred Label : fructose-biphosphatase deficiency;

Details

Origin ID

D6-50630;

UMLS CUI

C0016756;

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-Diphosphatase deficiency [MeSH 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-1,6-diphosphatase deficiency [MeSH Descriptor]
ICD-10 exact mapping(s)
- Disorders of fructose metabolism [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Gluconeogenesis disorder [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- fructose [SNOMED Notion]
- fructose-bisphosphatase [SNOMED Notion]
SNOMED CT concept
- Fructose-biphosphatase deficiency (disorder) [SNOMED CT concept]
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-1,6-diphosphatase deficiency [ICD-11 More detail]
- Fructose-biphosphatase deficiency (disorder) [SNOMED CT concept]
- fructose-1,6-bisphosphatase deficiency [DO Concept]
- fructose-1,6-diphosphatase deficiency [MeSH Descriptor]
- 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) :

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18/05/2024

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