Dilated cardiomyopathy due to glycogen branching enzyme deficiency

Preferred Label : Dilated cardiomyopathy due to glycogen branching enzyme deficiency;

ICD-11 definition : Glycogen branching enzyme deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease with extremely heterogeneous clinical presentation with liver or neuromuscular system involvement.;

ICD-11 synonym : Andersen disease; GSD type 4; Glycogen storage disease type 4; dilated cardiomyopathy due to glycogen branching enzyme deficiency; Glycogenosis type 4; Amylopectinosis; dilated cardiomyopathy due to glycogen storage disease type 4 (GSD4); Glycogen storage disease due to branching-transferase deficiency; dilated cardiomyopathy due to Andersen's disease; dilated cardiomyopathy due to glycogen storage disease type 4;

ICD-11 inclusion : brancher deficiency glycogen storage disease; deficiency of 1,4-alpha-glucan branching enzyme; deficiency of amylo-(1,4,6)-transglycosylase; branching-transferase deficiency glycogenosis; branching enzyme deficiency;

Details

Origin ID

2063377701;

UMLS CUI

C0017923;

Automatic exact mappings (from CISMeF team)
- 1,4-alpha-glucan branching enzyme 1 [HGNC gene]
- Andersen disease [MedDRA LLT]
Currated CISMeF NLP mapping
- Glycogen Storage Disease Type IV [NCIt concept]
- Glycogen storage disease due to glycogen branching enzyme deficiency [ORDO Disease]
- Glycogen storage disease iv [OMIM Phenotype]
- Glycogen storage disease type IV [MedDRA Preferred Term]
- Glycogen storage disease, type IV (disorder) [SNOMED CT concept]
- Glycogenosis type IV [MedDRA LLT]
- glycogen storage disease IV [DO Concept]
- glycogen storage disease type 4 [Disease (Nov.)]
- glycogen storage disease type IV [MeSH concept]
- glycogen storage disease type iv [MeSH Descriptor]
- glycogen storage disease, type iv [SNOMED Notion]
See also inter- (CISMeF)
- 1,4-alpha-glucan branching enzyme 1 [ORDO Gene]
- Deficiency of 1,4-alpha-glucan branching enzyme (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Andersen disease [MedDRA LLT]
- Deficiency of 1,4-alpha-glucan branching enzyme (disorder) [SNOMED CT concept]
- Glycogen Storage Disease Type IV [NCIt concept]
- Glycogen storage disease due to glycogen branching enzyme deficiency [ORDO Disease]
- Glycogen storage disease iv [OMIM Phenotype]
- Glycogen storage disease type IV [MedDRA Preferred Term]
- Glycogen storage disease, type IV (disorder) [SNOMED CT concept]
- Glycogenosis type IV [MedDRA LLT]
- glycogen storage disease IV [DO Concept]
- glycogen storage disease type 4 [Disease (Nov.)]
- glycogen storage disease type IV [MeSH concept]
- glycogen storage disease type iv [MeSH Descriptor]
- glycogen storage disease, type iv [SNOMED Notion]
Validated automatic mappings to BTNT
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form [ORDO Disease]

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