glycogen storage disease XII

Preferred Label : glycogen storage disease XII;

MeSH note : mutation in ALDOA;

MeSH synonym : aldolase A deficiency; aldolase deficiency, red cell; GSD12; red cell aldolase deficiency; ALDOA deficiency; GSD XII;

Details

Origin ID

C562718;

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 [ICD-11 More detail]
- 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]
- hnsha due to aldolase deficiency [SNOMED Notion]
False automatic mappings
- Glycogen storage disease XIII [OMIM Phenotype]
MeSH term(s) associated for indexing
- glycogen storage disease [MeSH Descriptor]
Record concept(s)
- glycogen storage disease XII [MeSH concept]
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 [ICD-11 More detail]
- 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]
- hnsha due to aldolase deficiency [SNOMED Notion]

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