Glycogen Storage Disease Type II

Preferred Label : Glycogen Storage Disease Type II;

NCIt definition : An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the enzyme acid alpha-glucosidase. It results in the abnormal accumulation of glycogen in the heart, skeletal muscles, liver, and nervous system.;

Details

Origin ID

C84734;

UMLS CUI

C0017921;

Automatic exact mappings (from CISMeF team)
- Glycogenosis II Pompe [PASCAL descriptor]
- alpha glucosidase [ORDO Gene]
- alpha glucosidase [HGNC gene]
Currated CISMeF NLP mapping
- 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 [OMIM Phenotype]
- Pompe disease [LOINC component]
- Pompe's disease [MedDRA LLT]
- Type II glycogen storage disease [MedDRA LLT]
- acid maltase deficiency [MeSH concept]
- glycogen storage disease II [DO Concept]
- glycogen storage disease type 2 [Disease (Nov.)]
- glycogen storage disease type II [MeSH concept]
- glycogen storage disease type ii [MeSH Descriptor]
- glycogen storage disease, type ii [SNOMED Notion]
DO Cross reference
- glycogen storage disease II [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of alpha-glucosidase (disorder) [SNOMED CT concept]
- Deficiency of glucan 1,4-alpha-glucosidase (disorder) [SNOMED CT concept]
- Generalized glycogenosis (disorder) [SNOMED CT concept]
- Glycogen storage disease due to acid maltase deficiency [ORDO Disease]
- Glycogen storage disease type II [MedDRA Preferred Term]
- Glycogen storage disease, type II (disorder) [SNOMED CT concept]
- Lysosomal alpha-1,4-glucosidase deficiency (disorder) [Inactive SNOMED CT concept]
- Pompe disease [OMIM Phenotype]
- 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 II [MeSH concept]
- glycogen storage disease type ii [MeSH Descriptor]
Validated automatic mappings to BTNT
- Lysosomal alpha-1,4-glucosidase deficiency (disorder) [Inactive SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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