Glycogen storage disease due to LAMP-2 deficiency

Preferred Label : Glycogen storage disease due to LAMP-2 deficiency;

ICD-11 definition : Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.;

ICD-11 synonym : Glycogen storage disease type 2B; GSD type 2B; Lysosomal glycogen storage disease with normal acid maltase activity; Glycogenosis type 2B;

Details

Origin ID

331119306;

UMLS CUI

C0878677;

Currated CISMeF NLP mapping
- Danon disease [Disease (Nov.)]
- Danon disease [MedDRA LLT]
- Danon disease [DO Concept]
- Danon disease [OMIM Phenotype]
- Glycogen Storage Disease Type IIb [NCIt concept]
- Glycogen storage disease due to LAMP-2 deficiency [ORDO Disease]
- Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder) [SNOMED CT concept]
- glycogen storage disease type IIb [MeSH concept]
- glycogen storage disease type iib [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Danon disease [DO Concept]
- Danon disease [MedDRA LLT]
- Danon disease [OMIM Phenotype]
- Danon disease [Disease (Nov.)]
- Glycogen Storage Disease Type IIb [NCIt concept]
- Glycogen storage disease due to LAMP-2 deficiency [ORDO Disease]
- Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder) [SNOMED CT concept]
- glycogen storage disease type IIb [MeSH concept]
- glycogen storage disease type iib [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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