Glycogen storage disease due to aldolase A deficiency

Preferred Label : Glycogen storage disease due to aldolase A deficiency;

ICD-11 definition : Aldolase A deficiency is an enzyme deficiency that may lead to myopathy with exercise intolerance and rhabdomyolysis associated with hemolytic anaemia. Aldolase is a glycolytic enzyme involved in cleaving fructose 1,6 diphosphate into triose phosphates. Aldolase A isoform is predominant in muscle and red blood cells. The condition is transmitted as an autosomal recessive trait.;

ICD-11 synonym : Glycogen storage disease type 12; GSD type 12; Glycogenosis type 12;

Details

Origin ID

1020924235;

UMLS CUI

C0272066;

Currated CISMeF NLP mapping
- Glycogen storage disease XII [OMIM Phenotype]
- Glycogen storage disease due to aldolase A deficiency [ORDO Disease]
- Glycogen storage disease due to aldolase A deficiency (disorder) [SNOMED CT concept]
- Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder) [Inactive SNOMED CT concept]
- glycogen storage disease XII [MeSH concept]
- glycogen storage disease XII [MeSH Supplementary Concept]
- hnsha due to aldolase deficiency [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease XII [OMIM Phenotype]
- Glycogen storage disease due to aldolase A deficiency [ORDO Disease]
- Glycogen storage disease due to aldolase A deficiency (disorder) [SNOMED CT concept]
- Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder) [Inactive SNOMED CT concept]
- glycogen storage disease XII [MeSH concept]
- glycogen storage disease XII [MeSH Supplementary Concept]
- hnsha due to aldolase deficiency [SNOMED Notion]

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