Glycogen Storage Disease Type IV

Preferred Label : Glycogen Storage Disease Type IV;

NCIt definition : A rare inherited type of glycogen storage disease caused by deficiency of amylo-1,4-1,6 transglucosidase.;

Details

Origin ID

C84737;

UMLS CUI

C0017923;

Automatic exact mappings (from CISMeF team)
- 1,4-alpha-glucan branching enzyme 1 [ORDO Gene]
- 1,4-alpha-glucan branching enzyme 1 [HGNC gene]
- Glycogenosis IV Andersen [PASCAL descriptor]
Currated CISMeF NLP mapping
- Dilated cardiomyopathy due to glycogen branching enzyme deficiency [ICD-11 More detail]
- 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]
DO Cross reference
- glycogen storage disease IV [DO 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]
- Dilated cardiomyopathy due to glycogen branching enzyme deficiency [ICD-11 More detail]
- 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]
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) :

You can consult :

recommendations
documents concerning education
documents for patients