glycogen storage disease, type i - CISMeF

CISMeF

chu

Glycogen storage disease, type iSNOMED Notion

Preferred Label : glycogen storage disease, type i;

Détails

Origin ID

D6-50310;

UMLS CUI

C0017920;

Automatic exact mappings (from CISMeF team)
- Glycogenosis I Von Gierke [PASCAL descriptor]
- glucose-6-phosphatase catalytic subunit 1 [HGNC gene]
- glycogen storage disease type I [Artificial nutrition thesaurus concept]
- glycogen storage disease type ii [MeSH Descriptor]
- glycogen storage disease type iii [MeSH Descriptor]
Currated CISMeF NLP mapping
- Deficiency of glucose-6-phosphatase (disorder) [SNOMED CT concept]
- Glycogen Storage Disease [NCIt concept]
- Glycogen Storage Disease Type I [NCIt concept]
- Glycogen storage disease [ICD-10 Sub-category]
- Glycogen storage disease [ORDO Disease]
- Glycogen storage disease [ICD-10 Sub-category (who)]
- Glycogen storage disease (disorder) [SNOMED CT concept]
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphate system deficiency [ICD-11 More detail]
- Glycogen storage disease ia [OMIM Phenotype]
- Glycogen storage disease type I [MedDRA Preferred Term]
- Glycogen storage disease, type I (disorder) [SNOMED CT concept]
- Glycogen storage disorder [MedDRA Preferred Term]
- Glycogen storage disorder NOS [MedDRA LLT]
- Glycogenoses [MedDRA LLT]
- Glycogenosis [ICD-9 code]
- Glycogenosis [MedDRA LLT]
- Type I glycogen storage disease [MedDRA LLT]
- Von Gierke's disease [MedDRA LLT]
- glycogen storage disease [Disease (Nov.)]
- glycogen storage disease [DO Concept]
- glycogen storage disease [MeSH concept]
- glycogen storage disease [MeSH Descriptor]
- glycogen storage disease I [DO Concept]
- glycogen storage disease type 1 [Disease (Nov.)]
- glycogen storage disease type I [MeSH concept]
- glycogen storage disease type i [MeSH Descriptor]
ICD-10 exact mapping(s)
- Glycogen storage disease [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib [ORDO Disease]
- Glycogen storage disease type 1c [ORDO Disease]
- Glycogen storage disease type 1d [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Rare metabolic liver disease [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- glucose-6-phosphatase [SNOMED Notion]
- glycogen, nos [SNOMED Notion]
SNOMED CT concept
- Glycogen storage disease, type I (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- glycogen storage disease type 1a [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of glucose-6-phosphatase (disorder) [SNOMED CT concept]
- Glucose-6-phosphatase deficiency [MedDRA LLT]
- Glycogen Storage Disease Type I [NCIt concept]
- Glycogen storage disease ia [OMIM Phenotype]
- Glycogen storage disease type I [MedDRA Preferred Term]
- Glycogen storage disease, type I (disorder) [SNOMED CT concept]
- Type I glycogen storage disease [MedDRA LLT]
- Von Gierke's disease [MedDRA LLT]
- glycogen storage disease I [DO Concept]
- glycogen storage disease type 1 [Disease (Nov.)]
- glycogen storage disease type I [MeSH concept]
- glycogen storage disease type i [MeSH Descriptor]
Validated automatic mappings to BTNT
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ICD-11 More detail]
Validated automatic mappings to NTBT
- Glycogen storage disease [ICD-11 Subcategory]

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31/07/2025

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