Glycogen storage disease due to acid maltase deficiency, infantile onset

Preferred Label : Glycogen storage disease due to acid maltase deficiency, infantile onset;

ICD-11 synonym : Glycogen storage disease due to acid alpha-1,4-glucosidase deficiency, infantile onset; Glycogenosis type 2, infantile onset; Infantile Pompe disease; Glycogen storage disease type 2, infantile onset; GSD2, infantile onset; lysosomal alpha-1,4-glucosidase deficiency (disorder); lysosomal alpha-1,4-glucosidase deficiency;

Details

Origin ID

1496243702;

UMLS CUI

C3888924;

Currated CISMeF NLP mapping
- Glycogen storage disease due to acid maltase deficiency, infantile onset [ORDO Disease]
- Glycogen storage disease type II infantile onset (disorder) [SNOMED CT concept]
- Lysosomal alpha-1,4-glucosidase deficiency - infantile onset (disorder) [Inactive SNOMED CT concept]
- glycogen storage disease type II, infantile [MeSH concept]
See also inter- (CISMeF)
- Pompe's disease [MedDRA LLT]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease type II infantile onset (disorder) [SNOMED CT concept]
- Pompe's disease infantile onset [MedDRA LLT]
Validated automatic mappings to NTBT
- glycogen storage disease, type ii [SNOMED Notion]

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