hereditary fructosuria - CISMeF

CISMeF

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Hereditary fructosuriaSNOMED Notion

Preferred Label : hereditary fructosuria;

Détails

Origin ID

D6-50620;

UMLS CUI

C0016751;

Automatic exact mappings (from CISMeF team)
- Disorders of fructose metabolism [ICD-10 Sub-category (who)]
- Fructosemia [PASCAL descriptor]
Currated CISMeF NLP mapping
- Fructose intolerance [HPO term]
- Fructose intolerance [PASCAL descriptor]
- Fructose intolerance [MedDRA Preferred Term]
- Fructose intolerance hereditary [MedDRA LLT]
- Fructose intolerance, hereditary [OMIM Phenotype]
- Fructose-1,6-bisphosphate aldolase B deficiency (disorder) [SNOMED CT concept]
- Hereditary Fructose Intolerance [NCIt concept]
- Hereditary fructose intolerance [ORDO Disease]
- Hereditary fructose intolerance [ICD-9 code]
- Hereditary fructose intolerance [ICD-11 Sub-sub category]
- Hereditary fructose intolerance [MedDRA Preferred Term]
- fructose intolerance [Disease (Nov.)]
- fructose intolerance [MeSH Descriptor]
- fructose intolerance [MeSH concept]
- hereditary fructose intolerance syndrome [DO Concept]
ICD-10 exact mapping(s)
- Disorders of fructose metabolism [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Congenital intestinal transport defect [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Rare metabolic liver disease [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- fructose [SNOMED Notion]
- fructose-bisphosphate aldolase [SNOMED Notion]
SNOMED CT concept
- Fructose-1,6-bisphosphate aldolase B deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fructose intolerance [MedDRA Preferred Term]
- Fructose intolerance [HPO term]
- Fructose intolerance [PASCAL descriptor]
- Fructose intolerance hereditary [MedDRA LLT]
- Fructose intolerance, hereditary [OMIM Phenotype]
- Fructose-1,6-bisphosphate aldolase B deficiency (disorder) [SNOMED CT concept]
- Hereditary Fructose Intolerance [NCIt concept]
- Hereditary fructose intolerance [ICD-9 code]
- Hereditary fructose intolerance [ORDO Disease]
- Hereditary fructose intolerance [ICD-11 Sub-sub category]
- Hereditary fructose intolerance [MedDRA Preferred Term]
- fructose intolerance [MeSH Descriptor]
- fructose intolerance [MeSH concept]
- fructose intolerance [Disease (Nov.)]
- hereditary fructose intolerance syndrome [DO Concept]

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26/07/2025

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