glycogen storage disease, type ii - CISMeF

CISMeF

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Glycogen storage disease, type iiSNOMED Notion

Preferred Label : glycogen storage disease, type ii;

Details

Origin ID

D6-50410;

UMLS CUI

C0342751;

Automatic exact mappings (from CISMeF team)
- Glycogen storage disease [ICD-10 Sub-category (who)]
- Glycogenosis II Pompe [PASCAL descriptor]
- alpha glucosidase [ORDO Gene]
- alpha glucosidase [HGNC gene]
- glycogen storage disease type i [MeSH Descriptor]
- glycogen storage disease type iii [MeSH Descriptor]
CISMeF manual mappings
- Lysosomal alpha-1,4-glucosidase deficiency - infantile onset (disorder) [Inactive 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]
- 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]
ICD-10 exact mapping(s)
- Glycogen storage disease [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Disorder of lysosomal amino acid transport [ORDO Disease]
- Glycogen storage disease with hypertrophic cardiomyopathy [ORDO Disease]
- Lysosomal disease with hypertrophic cardiomyopathy [ORDO Disease]
- Lysosomal disease with restrictive cardiomyopathy [ORDO Disease]
- Muscular glycogenosis [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- alpha-glucosidase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
- glycogen, nos [SNOMED Notion]
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]
- acid maltase deficiency [MeSH concept]
Validated automatic mappings to BTNT
- Glycogen storage disease due to acid maltase deficiency, infantile onset [ICD-11 More detail]
- Lysosomal alpha-1,4-glucosidase deficiency (disorder) [Inactive SNOMED CT concept]

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18/05/2024

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