Hereditary Fructose Intolerance

Preferred Label : Hereditary Fructose Intolerance;

NCIt synonyms : Fructose Intolerance;

NCIt related terms : Fructose-1,6-Bisphosphate Aldolase B Deficiency;

NCIt definition : A genetic disorder characterized by the absence of the enzyme aldolase-B from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure.;

Details

Origin ID

C84720;

UMLS CUI

C0016751;

Automatic exact mappings (from CISMeF team)
- Disorders of fructose metabolism [ICD-10 Sub-category (who)]
- Disorders of fructose metabolism [ICD-10 Sub-category]
- Fructosemia [PASCAL descriptor]
Currated CISMeF NLP mapping
- Fructose intolerance [MedDRA Preferred Term]
- Fructose intolerance [PASCAL descriptor]
- Fructose intolerance [HPO 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 [ICD-9 code]
- Hereditary fructose intolerance [ICD-11 Sub-sub category]
- Hereditary fructose intolerance [MedDRA Preferred Term]
- Hereditary fructose intolerance [ORDO Disease]
- fructose intolerance [Disease (Nov.)]
- fructose intolerance [MeSH Descriptor]
- fructose intolerance [MeSH concept]
- hereditary fructose intolerance syndrome [DO Concept]
- hereditary fructosuria [SNOMED Notion]
DO Cross reference
- hereditary fructose intolerance syndrome [DO 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 [ICD-9 code]
- Hereditary fructose intolerance [ORDO Disease]
- Hereditary fructose intolerance [ICD-11 Sub-sub category]
- Hereditary fructose intolerance [MedDRA Preferred Term]
- fructose intolerance [Disease (Nov.)]
- fructose intolerance [MeSH concept]
- fructose intolerance [MeSH Descriptor]
- fructosemia [SNOMED Notion]
- hereditary fructose intolerance syndrome [DO Concept]
- hereditary fructosuria [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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