Glycogen Storage Disease Type IIb

Preferred Label : Glycogen Storage Disease Type IIb;

NCIt synonyms : Danon Disease;

NCIt definition : A genetic metabolic disorder causing hypertrophic cardiomyopathy. Mutations of the LAMP2 gene have been reported in association with this disease.;

Details

Origin ID

C84735;

UMLS CUI

C0878677;

CISMeF manual mappings
- Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Danon disease [Disease (Nov.)]
- Danon disease [MedDRA LLT]
- Danon disease [OMIM Phenotype]
- Danon disease [DO Concept]
- Danon disease [ICD-11 More detail]
- Glycogen storage disease due to LAMP-2 deficiency [ORDO Disease]
- Glycogen storage disease due to LAMP-2 deficiency [ICD-11 More detail]
- glycogen storage disease type IIb [MeSH concept]
- glycogen storage disease type iib [MeSH Descriptor]
DO Cross reference
- Danon disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Danon disease [OMIM Phenotype]
- Danon disease [MedDRA LLT]
- Danon disease [DO Concept]
- Danon disease [Disease (Nov.)]
- Danon disease [ICD-11 More detail]
- Glycogen storage disease due to LAMP-2 deficiency [ORDO Disease]
- Glycogen storage disease due to LAMP-2 deficiency [ICD-11 More detail]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- LAMP2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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