Hereditary fructose intolerance

ICD-11 code : 5C51.50;

Preferred Label : Hereditary fructose intolerance;

ICD-11 definition : Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate.;

ICD-11 synonym : fructose intolerance of newborn; Fructosaemia; ALDB - [aldolase B] deficiency; Hereditary fructosaemia; Aldolase B deficiency; fructose-biphosphate aldolase b deficiency; fructose-1-phosphate aldolase deficiency; ALDB deficiency; fructose-1,6-bisphosphate aldolase b deficiency (disorder); Hereditary fructose-1-phosphate aldolase deficiency; Fructose intolerance; fructose-1,6-bisphosphate aldolase b deficiency;

ICD-11 inclusion : deficiency of fructose-bisphosphate aldolase;

Details

Origin ID

1925240365;

UMLS CUI

C0016751;

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 [MedDRA Preferred Term]
- Hereditary fructose intolerance [ICD-9 code]
- fructose intolerance [MeSH Descriptor]
- fructose intolerance [MeSH concept]
- fructose intolerance [Disease (Nov.)]
- hereditary fructose intolerance syndrome [DO Concept]
- hereditary fructosuria [SNOMED Notion]
ICD-10 Mapping
- Disorders of fructose metabolism [ICD-10 Sub-category]
See also inter- (CISMeF)
- fructosemia [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fructose intolerance [HPO term]
- Fructose intolerance [MedDRA Preferred 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 [MedDRA Preferred Term]
- Hereditary fructose intolerance [ORDO Disease]
- fructose intolerance [MeSH Descriptor]
- fructose intolerance [MeSH concept]
- fructose intolerance [Disease (Nov.)]
- fructosemia [SNOMED Notion]
- hereditary fructose intolerance syndrome [DO Concept]
- hereditary fructosuria [SNOMED Notion]
Validated automatic mappings to NTBT
- Disorders of fructose metabolism [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

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