acid maltase deficiency

Preferred Label : acid maltase deficiency;

CISMeF synonym : Maltase Deficiency, Acid;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0535557;

UMLS CUI

C0342751;

Automatic exact mappings (from CISMeF team)
- Deficiency of glucan 1,4-alpha-glucosidase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Glycogen Storage Disease Type II [NCIt concept]
- Glycogen storage disease II [OMIM Phenotype]
- Glycogen storage disease due to acid maltase deficiency [ORDO Disease]
- Glycogen storage disease due to acid maltase deficiency [ICD-11 More detail]
- Glycogen storage disease type II [MedDRA Preferred Term]
- Glycogen storage disease, type II (disorder) [SNOMED CT concept]
- Pompe disease [LOINC component]
- Pompe's disease [MedDRA LLT]
- Type II glycogen storage disease [MedDRA LLT]
- glycogen storage disease II [DO Concept]
- glycogen storage disease type 2 [Disease (Nov.)]
- glycogen storage disease, type ii [SNOMED Notion]
Related record
- glycogen storage disease type ii [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease, type II (disorder) [SNOMED CT concept]
- Lysosomal alpha-1,4-glucosidase deficiency - infantile onset (disorder) [Inactive SNOMED CT concept]
- Pompe disease [LOINC component]
- glycogen storage disease, type ii [SNOMED Notion]
Validated automatic mappings to BTNT
- Lysosomal alpha-1,4-glucosidase deficiency (disorder) [Inactive SNOMED CT concept]